DLG1 discs large MAGUK scaffold protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DLG1provided by HGNC
Official Full Name: discs large MAGUK scaffold protein 1provided by HGNC
Primary source: HGNC:HGNC:2900
See related: Ensembl:ENSG00000075711 MIM:601014; AllianceGenome:HGNC:2900
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: hdlg; DLGH1; SAP97; SAP-97
Summary: This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]
Expression: Ubiquitous expression in thyroid (RPKM 13.8), brain (RPKM 11.7) and 25 other tissues See more
Orthologs: all
: Try the new Gene page
Try the new Transcripts and proteins table

Genomic context

Location:: 3q29

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (197042560..197299321, complement)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (199768533..200020586, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (196769431..197026192, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NONO promotes gallbladder cancer cell proliferation by enhancing oncogenic RNA splicing of DLG1 through interaction with IGF2BP3/RBM14.
Title: NONO promotes gallbladder cancer cell proliferation by enhancing oncogenic RNA splicing of DLG1 through interaction with IGF2BP3/RBM14.
Genetic contribution of synapse-associated protein 97 to cerebellar functional connectivity changes in first-episode schizophrenia.
Title: Genetic contribution of synapse-associated protein 97 to cerebellar functional connectivity changes in first-episode schizophrenia.
The human discs large protein 1 interacts with and maintains connexin 43 at the plasma membrane in keratinocytes.
Title: The human discs large protein 1 interacts with and maintains connexin 43 at the plasma membrane in keratinocytes.
Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development.
Title: Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development.
PDZ Proteins SCRIB and DLG1 Regulate Myeloma Cell Surface CD86 Expression, Growth, and Survival.
Title: PDZ Proteins SCRIB and DLG1 Regulate Myeloma Cell Surface CD86 Expression, Growth, and Survival.
The SF3B1(R625H) mutation promotes prolactinoma tumor progression through aberrant splicing of DLG1.
Title: The SF3B1(R625H) mutation promotes prolactinoma tumor progression through aberrant splicing of DLG1.
Application of quantitative immunofluorescence assays to analyze the expression of cell contact proteins during Zika virus infections.
Title: Application of quantitative immunofluorescence assays to analyze the expression of cell contact proteins during Zika virus infections.
The circular RNA circDLG1 promotes gastric cancer progression and anti-PD-1 resistance through the regulation of CXCL12 by sponging miR-141-3p.
Title: The circular RNA circDLG1 promotes gastric cancer progression and anti-PD-1 resistance through the regulation of CXCL12 by sponging miR-141-3p.
Analysis of mRNA and Protein Levels of CAP2, DLG1 and ADAM10 Genes in Post-Mortem Brain of Schizophrenia, Parkinson's and Alzheimer's Disease Patients.
Title: Analysis of mRNA and Protein Levels of CAP2, DLG1 and ADAM10 Genes in Post-Mortem Brain of Schizophrenia, Parkinson's and Alzheimer's Disease Patients.
Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy.
Title: Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy.

Submit: New GeneRIF Correction See all GeneRIFs (109)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	DLG1 knockdown enhances the amount of Env in producer cells and virions. DLG1 knockdown is associated with the redistribution and colocalization of Env toward CD63 and CD82 positive vesicle-like structures	PubMed
Pr55(Gag)	gag	DLG1 knockdown is associated with the redistribution and colocalization of Gag toward CD63 and CD82 positive vesicle-like structures	PubMed
	gag	Endogenous DLG1 interacts with HIV-1 Gag in HIV-1-infected T cells. The NC domain of Gag is required for the interaction with DLG1	PubMed
nucleocapsid	gag	Endogenous DLG1 interacts with HIV-1 Gag in HIV-1-infected T cells. The NC domain of Gag is required for the interaction with DLG1	PubMed

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

A009W05 (e-PCR)
- UniSTS:35844

SHGC-64259 (e-PCR)
- UniSTS:77590

SHGC-77698 (e-PCR)
- UniSTS:32032

STS-R83329 (e-PCR)
- UniSTS:26936

RH101988 (e-PCR)
- UniSTS:96322

RH76431 (e-PCR)
- UniSTS:87113

D3S3326 (e-PCR)
- UniSTS:39508

RH12686 (e-PCR)
- UniSTS:14174

D3S1272 (e-PCR), detects polymorphism
- UniSTS:64372

SHGC-82362 (e-PCR)
- UniSTS:104322

D13S1553 (e-PCR)
- UniSTS:473482

SHGC-77702 (e-PCR)
- UniSTS:65162

D3S1311 (e-PCR), detects polymorphism
- UniSTS:39579

G62059 (e-PCR)
- UniSTS:139173

G30445 (e-PCR)
- UniSTS:17328

D3S2855E (e-PCR)
- UniSTS:7089

RH93848 (e-PCR)
- UniSTS:87731

D3S4117 (e-PCR)
- UniSTS:32695

RH46943 (e-PCR)
- UniSTS:5077

G32903 (e-PCR)
- UniSTS:117482

SHGC-78890 (e-PCR)
- UniSTS:95728

D3S1311 (e-PCR), detects polymorphism
- UniSTS:51449

D3S1272 (e-PCR), detects polymorphism
- UniSTS:59903

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GMP kinase activity	TAS Traceable Author Statement more info	PubMed
enables L27 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables cytoskeletal protein binding	TAS Traceable Author Statement more info	PubMed
enables ionotropic glutamate receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables kinase binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	IEA Inferred from Electronic Annotation more info
enables phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphoprotein phosphatase activity	TAS Traceable Author Statement more info	PubMed
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel regulator activity	IEA Inferred from Electronic Annotation more info
enables potassium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables potassium channel regulator activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of postsynaptic density	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in GMP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in astral microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bicellular tight junction assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in cortical actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in cortical microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of centrosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment or maintenance of cell polarity	TAS Traceable Author Statement more info	PubMed
involved_in establishment or maintenance of epithelial cell apical/basal polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of epithelial cell apical/basal polarity	NAS Non-traceable Author Statement more info	PubMed
involved_in maintenance of postsynaptic density structure	IEA Inferred from Electronic Annotation more info
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of p38MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to cell periphery	IEA Inferred from Electronic Annotation more info
involved_in protein localization to membrane	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	TAS Traceable Author Statement more info	PubMed
involved_in protein localization to synapse	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein-containing complex localization	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor clustering	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor localization to synapse	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane potential	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of potassium ion export across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in regulation of potassium ion export across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of potassium ion import	IEA Inferred from Electronic Annotation more info
involved_in regulation of potassium ion import	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization to synapse	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein localization to synapse	IEA Inferred from Electronic Annotation more info
involved_in regulation of sodium ion transmembrane transport	TAS Traceable Author Statement more info	PubMed
involved_in regulation of ventricular cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info
involved_in regulation of ventricular cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
part_of MPP7-DLG1-LIN7 complex	IDA Inferred from Direct Assay more info	PubMed
located_in adherens junction	NAS Non-traceable Author Statement more info	PubMed
located_in anchoring junction	EXP Inferred from Experiment more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	EXP Inferred from Experiment more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	EXP Inferred from Experiment more info	PubMed
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IEA Inferred from Electronic Annotation more info
located_in cell projection membrane	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	EXP Inferred from Experiment more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in immunological synapse	IDA Inferred from Direct Assay more info	PubMed
located_in immunological synapse	IEA Inferred from Electronic Annotation more info
located_in immunological synapse	TAS Traceable Author Statement more info	PubMed
located_in intercalated disc	TAS Traceable Author Statement more info	PubMed
located_in lateral loop	IEA Inferred from Electronic Annotation more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in myelin sheath abaxonal region	IEA Inferred from Electronic Annotation more info
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in node of Ranvier	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	EXP Inferred from Experiment more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic density membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: disks large homolog 1

Names: dJ1061C18.1.1; discs large homolog 1, scribble cell polarity complex component; presynaptic protein SAP97; synapse-associated protein 97

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029099.1 RefSeqGene

Range

4965..261017

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001098424.1 → NP_001091894.1 disks large homolog 1 isoform 1

See identical proteins and their annotated locations for NP_001091894.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC068302, AC092937, U13897

Consensus CDS

CCDS43194.1

UniProtKB/Swiss-Prot

A5YKK7, B4DGU1, B4DGZ8, B7ZMM0, B9EIQ5, D3DXB8, D3DXB9, E7EWL7, E9PG21, Q12958, Q12959

UniProtKB/TrEMBL

A0ACI8UKH3

Related

ENSP00000391732.2, ENST00000448528.7

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:713 → 891

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001204386.1 → NP_001191315.1 disks large homolog 1 isoform 3

See identical proteins and their annotated locations for NP_001191315.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) is missing an in-frame coding exon, and contains an alternate in-frame coding exon compared to variant 1. This results in a shorter isoform (3) compared to isoform 1.

Source sequence(s)

AA837080, AC068302, AI223994, AK293967, BC042118, BC144651, BM728664, EF553524, U13897

Consensus CDS

CCDS75072.1

UniProtKB/TrEMBL

A0A0C4DFT3, A0A590UJC5

Related

ENSP00000499584.1, ENST00000656944.1

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:701 → 879

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001204387.2 → NP_001191316.1 disks large homolog 1 isoform 4

See identical proteins and their annotated locations for NP_001191316.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate 5' terminal exon, missing an in-frame coding exon, and contains an additional in-frame coding exon compared to variant 1. This results in a shorter isoform (4) with an unique N-terminus compared to isoform 1.

Source sequence(s)

AA837080, AC068302, AI223994, AK293967, AK294772, AK294855, BC042118, BM728664, EF553524

Consensus CDS

CCDS56301.1

UniProtKB/TrEMBL

A0A590UJR4

Related

ENSP00000396658.1, ENST00000443183.6

Conserved Domains (6) summary

cd12031
Location:466 → 532

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:347 → 431

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:108 → 192

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:609 → 787

Guanylate_kin; Guanylate kinase

pfam10600
Location:288 → 349

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:21 → 107

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001204388.2 → NP_001191317.1 disks large homolog 1 isoform 5

See identical proteins and their annotated locations for NP_001191317.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate 5' terminal exon and is missing an in-frame coding exon compared to variant 1. This results in a shorter isoform (5) with an unique N-terminus compared to isoform 1.

Source sequence(s)

AA837080, AC068302, AI223994, AK294855, BC042118, BC144651, BM728664, EF553524

Consensus CDS

CCDS56300.1

UniProtKB/TrEMBL

A0A590UJR4

Related

ENSP00000398939.1, ENST00000452595.6

Conserved Domains (6) summary

cd12031
Location:466 → 532

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:347 → 431

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:108 → 192

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:597 → 775

Guanylate_kin; Guanylate kinase

pfam10600
Location:288 → 349

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:21 → 107

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001290983.2 → NP_001277912.1 disks large homolog 1 isoform 1

See identical proteins and their annotated locations for NP_001277912.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Both variants 1 and 6 encode the same isoform (1).

Source sequence(s)

AA837080, AC068302, AC092937, EF553524, U13897

Consensus CDS

CCDS43194.1

UniProtKB/Swiss-Prot

A5YKK7, B4DGU1, B4DGZ8, B7ZMM0, B9EIQ5, D3DXB8, D3DXB9, E7EWL7, E9PG21, Q12958, Q12959

UniProtKB/TrEMBL

A0ACI8UKH3

Related

ENSP00000407531.1, ENST00000419354.6

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:713 → 891

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001363865.1 → NP_001350794.1 disks large homolog 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS87192.1

UniProtKB/TrEMBL

A0A590UJC5

Related

ENSP00000350303.6, ENST00000357674.10

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:702 → 880

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366203.1 → NP_001353132.1 disks large homolog 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93450.1

UniProtKB/TrEMBL

A0A590UJ68, A0ACI8UHC8

Related

ENSP00000499313.1, ENST00000667104.2

Conserved Domains (7) summary

cd12031
Location:531 → 597

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:412 → 496

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:173 → 257

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:674 → 852

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:353 → 414

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 172

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366204.1 → NP_001353133.1 disks large homolog 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93452.1

UniProtKB/TrEMBL

A0A590UJR5

Related

ENSP00000499602.1, ENST00000659716.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:680 → 858

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366205.1 → NP_001353134.1 disks large homolog 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS75072.1

UniProtKB/TrEMBL

A0A0C4DFT3, A0A590UJC5

Related

ENSP00000499507.1, ENST00000657381.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:701 → 879

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366206.1 → NP_001353135.1 disks large homolog 1 isoform 9

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93451.1

UniProtKB/TrEMBL

A0A590UJ08, A0ACI8UHD9

Related

ENSP00000499229.1, ENST00000661336.2

Conserved Domains (7) summary

cd12031
Location:531 → 597

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:412 → 496

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:173 → 257

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:684 → 862

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:353 → 414

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 172

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366207.1 → NP_001353136.1 disks large homolog 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS87192.1

UniProtKB/TrEMBL

A0A590UJC5

Related

ENSP00000499414.1, ENST00000667157.1

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:702 → 880

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366208.1 → NP_001353137.1 disks large homolog 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93452.1

UniProtKB/TrEMBL

A0A590UJR5

Related

ENSP00000499657.1, ENST00000655488.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:680 → 858

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366209.1 → NP_001353138.1 disks large homolog 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93452.1

UniProtKB/TrEMBL

A0A590UJR5

Related

ENSP00000499580.1, ENST00000671185.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:680 → 858

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366210.1 → NP_001353139.1 disks large homolog 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS87192.1

UniProtKB/TrEMBL

A0A590UJC5

Related

ENSP00000499413.1, ENST00000669565.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:702 → 880

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366211.1 → NP_001353140.1 disks large homolog 1 isoform 10

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93453.1

UniProtKB/TrEMBL

A0A590UJR5, A0A590UKA8

Related

ENSP00000499723.1, ENST00000656087.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:692 → 870

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366212.1 → NP_001353141.1 disks large homolog 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93452.1

UniProtKB/TrEMBL

A0A590UJR5

Related

ENSP00000499514.1, ENST00000661453.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:680 → 858

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366213.1 → NP_001353142.1 disks large homolog 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS75072.1

UniProtKB/TrEMBL

A0A0C4DFT3, A0A590UJC5

Related

ENSP00000499269.1, ENST00000659221.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:701 → 879

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366214.1 → NP_001353143.1 disks large homolog 1 isoform 11

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93454.1

UniProtKB/TrEMBL

A0A590UJD9, A0ACI8UKH3

Related

ENSP00000499363.1, ENST00000660898.2

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:734 → 912

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366215.1 → NP_001353144.1 disks large homolog 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS87192.1

UniProtKB/TrEMBL

A0A590UJC5

Related

ENSP00000499542.1, ENST00000670455.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:702 → 880

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366216.1 → NP_001353145.1 disks large homolog 1 isoform 12

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93449.1

UniProtKB/TrEMBL

A0ACI8UHC8

Related

ENSP00000413238.1, ENST00000422288.7

Conserved Domains (7) summary

cd12031
Location:531 → 597

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:412 → 496

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:173 → 257

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:662 → 840

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:353 → 414

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 172

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366217.1 → NP_001353146.1 disks large homolog 1 isoform 10

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93453.1

UniProtKB/TrEMBL

A0A590UJR5, A0A590UKA8

Related

ENSP00000499774.1, ENST00000662727.2

Conserved Domains (7) summary

cd12031
Location:549 → 615

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:430 → 514

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:191 → 275

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:692 → 870

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:371 → 432

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 190

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366218.1 → NP_001353147.1 disks large homolog 1 isoform 1

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS43194.1

UniProtKB/Swiss-Prot

A5YKK7, B4DGU1, B4DGZ8, B7ZMM0, B9EIQ5, D3DXB8, D3DXB9, E7EWL7, E9PG21, Q12958, Q12959

UniProtKB/TrEMBL

A0ACI8UKH3

Related

ENSP00000499437.1, ENST00000670935.2

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:713 → 891

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366219.1 → NP_001353148.1 disks large homolog 1 isoform 12

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93449.1

UniProtKB/TrEMBL

A0ACI8UHC8

Related

ENSP00000499793.1, ENST00000666007.2

Conserved Domains (7) summary

cd12031
Location:531 → 597

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:412 → 496

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:173 → 257

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:662 → 840

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:353 → 414

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 172

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366220.1 → NP_001353149.1 disks large homolog 1 isoform 13

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

UniProtKB/TrEMBL

A0ACI8SXB4, A0ACI8UHD9

Related

ENSP00000588358.1, ENST00000918299.2

Conserved Domains (7) summary

cd12031
Location:531 → 597

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:412 → 496

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:173 → 257

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:683 → 861

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:353 → 414

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 172

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366221.1 → NP_001353150.1 disks large homolog 1 isoform 14

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93448.1

UniProtKB/TrEMBL

A0A590UJR4, A0A590UJX2

Related

ENSP00000499599.1, ENST00000653795.2

Conserved Domains (6) summary

cd12031
Location:499 → 565

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:380 → 464

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:141 → 225

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:642 → 820

Guanylate_kin; Guanylate kinase

pfam10600
Location:321 → 382

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:102 → 140

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001366222.1 → NP_001353151.1 disks large homolog 1 isoform 15

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Consensus CDS

CCDS93447.1

UniProtKB/TrEMBL

A0A590UJR4, A0A590UK48

Related

ENSP00000499692.1, ENST00000671246.1

Conserved Domains (6) summary

cd12031
Location:499 → 565

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:380 → 464

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:141 → 225

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:630 → 808

Guanylate_kin; Guanylate kinase

pfam10600
Location:321 → 382

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:102 → 140

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_004087.2 → NP_004078.2 disks large homolog 1 isoform 2

See identical proteins and their annotated locations for NP_004078.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate in-frame coding exon compared to variant 1, resulting in a longer isoform (2) compared to isoform 1.

Source sequence(s)

AC068302, AC092937, U13896

Consensus CDS

CCDS3327.1

UniProtKB/TrEMBL

A0ACI8UKH3

Related

ENSP00000345731.2, ENST00000346964.7

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:735 → 913

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK

RNA

NR_158764.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Related

ENST00001060824.1
NR_158765.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Related

ENST00001035270.1
NR_158766.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068302, AC092937
NR_158767.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068302, AC092937

Related

ENST00000653331.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

197042560..197299321 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017005803.2 → XP_016861292.1 disks large homolog 1 isoform X1

UniProtKB/TrEMBL

A0ACI8UKH3

Related

ENSP00000557967.1, ENST00000887908.2

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:735 → 913

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_017005801.2 → XP_016861290.1 disks large homolog 1 isoform X1

UniProtKB/TrEMBL

A0ACI8UKH3

Related

ENSP00000588349.1, ENST00000918290.2

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:735 → 913

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_017005811.3 → XP_016861300.1 disks large homolog 1 isoform X3

UniProtKB/TrEMBL

A0A590UJ08, A0ACI8UHD9

Related

ENSP00000588354.1, ENST00000918295.2

Conserved Domains (7) summary

cd12031
Location:531 → 597

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:412 → 496

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:173 → 257

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:684 → 862

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:353 → 414

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 172

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_011512502.4 → XP_011510804.1 disks large homolog 1 isoform X2

See identical proteins and their annotated locations for XP_011510804.1

UniProtKB/Swiss-Prot

A5YKK7, B4DGU1, B4DGZ8, B7ZMM0, B9EIQ5, D3DXB8, D3DXB9, E7EWL7, E9PG21, Q12958, Q12959

UniProtKB/TrEMBL

A0ACI8UKH3

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:713 → 891

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_005269289.5 → XP_005269346.1 disks large homolog 1 isoform X1

See identical proteins and their annotated locations for XP_005269346.1

UniProtKB/TrEMBL

A0ACI8UKH3

Related

ENSP00000618548.1, ENST00000948489.2

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:735 → 913

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_017005800.2 → XP_016861289.1 disks large homolog 1 isoform X1

UniProtKB/TrEMBL

A0ACI8UKH3

Related

ENSP00000588355.1, ENST00000918296.2

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:735 → 913

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_017005802.2 → XP_016861291.1 disks large homolog 1 isoform X1

UniProtKB/TrEMBL

A0ACI8UKH3

Conserved Domains (7) summary

cd12031
Location:582 → 648

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00228
Location:463 → 547

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:224 → 308

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:735 → 913

Guanylate_kin; Guanylate kinase

pfam09058
Location:2 → 62

L27_1

pfam10600
Location:404 → 465

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:106 → 223

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_017005823.3 → XP_016861312.1 disks large homolog 1 isoform X5

UniProtKB/TrEMBL

A0A590UJR4
XM_017005821.3 → XP_016861310.1 disks large homolog 1 isoform X4

UniProtKB/TrEMBL

A0A590UJR4

Conserved Domains (7) summary

cd12031
Location:499 → 565

SH3_DLG1; Src Homology 3 domain of Disks Large homolog 1

smart00072
Location:663 → 830

GuKc; Guanylate kinase homologues

smart00228
Location:380 → 464

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:141 → 225

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:652 → 830

Guanylate_kin; Guanylate kinase

pfam10600
Location:321 → 382

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:102 → 140

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_047447592.1 → XP_047303548.1 disks large homolog 1 isoform X6

UniProtKB/TrEMBL

A0A590UJ64

Related

ENSP00000499280.1, ENST00000661229.1
XM_047447593.1 → XP_047303549.1 disks large homolog 1 isoform X7

UniProtKB/TrEMBL

E7EQD7

Related

ENSP00000376186.3, ENST00000392381.7
XM_047447594.1 → XP_047303550.1 disks large homolog 1 isoform X8

UniProtKB/TrEMBL

E7EQD7

RNA

XR_007095643.1 RNA Sequence
XR_007095642.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

199768533..200020586 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054345495.1 → XP_054201470.1 disks large homolog 1 isoform X1

UniProtKB/TrEMBL

A0ACI8UKH3
XM_054345492.1 → XP_054201467.1 disks large homolog 1 isoform X1

UniProtKB/TrEMBL

A0ACI8UKH3
XM_054345497.1 → XP_054201472.1 disks large homolog 1 isoform X3

UniProtKB/TrEMBL

A0ACI8UHD9
XM_054345496.1 → XP_054201471.1 disks large homolog 1 isoform X2

UniProtKB/TrEMBL

A0ACI8UKH3
XM_054345491.1 → XP_054201466.1 disks large homolog 1 isoform X1

UniProtKB/TrEMBL

A0ACI8UKH3
XM_054345493.1 → XP_054201468.1 disks large homolog 1 isoform X1

UniProtKB/TrEMBL

A0ACI8UKH3
XM_054345494.1 → XP_054201469.1 disks large homolog 1 isoform X1

UniProtKB/TrEMBL

A0ACI8UKH3
XM_054345499.1 → XP_054201474.1 disks large homolog 1 isoform X5

UniProtKB/TrEMBL

A0A590UJR4
XM_054345498.1 → XP_054201473.1 disks large homolog 1 isoform X4

UniProtKB/TrEMBL

A0A590UJR4
XM_054345500.1 → XP_054201475.1 disks large homolog 1 isoform X6

UniProtKB/TrEMBL

A0A590UJ64
XM_054345501.1 → XP_054201476.1 disks large homolog 1 isoform X7

UniProtKB/TrEMBL

E7EQD7
XM_054345502.1 → XP_054201477.1 disks large homolog 1 isoform X8

UniProtKB/TrEMBL

E7EQD7