Dlgap4 DLG associated protein 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dlgap4provided by MGI
Official Full Name: DLG associated protein 4provided by MGI
Primary source: MGI:MGI:2138865
See related: Ensembl:ENSMUSG00000061689 AllianceGenome:MGI:2138865
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DAP4; DAP-4; WBP16; Sapap4; SAPAP-4
Summary: This gene encodes a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. The encoded protein may play a role in synapse organization and neuronal signalling. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 22.1), CNS E18 (RPKM 21.6) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2; 2 H1

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (156455431..156606283)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (156613633..156764363)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sapap4 deficiency leads to postsynaptic defects and abnormal behaviors relevant to hyperkinetic neuropsychiatric disorder in mice.
Title: Sapap4 deficiency leads to postsynaptic defects and abnormal behaviors relevant to hyperkinetic neuropsychiatric disorder in mice.
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
Title: Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
The behavioural alterations of SAPAP4-deficient mice are associated with dramatic changes in synapse morphology, function and plasticity, indicating that SAPAP4 is critical for the development of functional neuronal networks
Title: Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.
The findings demonstrate that SAPAP4 plays a critical role in in the synaptic function of the nucleus accumbens.
Title: SAPAP4 Deletion Causes Synaptic Dysfunction in the nucleus accumbens.
Detection of significantly increased postsynaptic density-95 induced by behavioral training at the protein level per se is intriguing and supports the proposed importance of this molecule for neuronal information storage.
Title: Behavioral testing upregulates pCaMKII, BDNF, PSD-95 and egr-1 in hippocampus of FVB/N mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH135981 (e-PCR)
- UniSTS:209977

N28159 (e-PCR)
- UniSTS:125503

Homology

Homologs of the Dlgap4 gene: The Dlgap4 gene is conserved in human, chimpanzee, Rhesus monkey, dog, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 339 organisms have orthologs with human gene Dlgap4
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in regulation of postsynaptic neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in signaling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cholinergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in cholinergic synapse	IEP Inferred from Expression Pattern more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IEP Inferred from Expression Pattern more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic specialization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in postsynaptic specialization	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic specialization	IEP Inferred from Expression Pattern more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: disks large-associated protein 4

Names: PSD-95/SAP90-binding protein 4; SAP90/PSD-95-associated protein 4; WW domain-binding protein 16; discs, large homolog-associated protein 4

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001042487.1 → NP_001035952.1 disks large-associated protein 4 isoform b

See identical proteins and their annotated locations for NP_001035952.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks several 5' coding exons, and initiates translation at an alternate start codon, compared to variant 1. It represents use of an alternate promoter. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

BC058948, BC085475, CF725232

Consensus CDS

CCDS38299.1

UniProtKB/Swiss-Prot

B1AZP2

Related

ENSMUSP00000096749.6, ENSMUST00000099145.6

Conserved Domains (1) summary

pfam03359
Location:121 → 453

GKAP; Guanylate-kinase-associated protein (GKAP) protein
NM_001042488.2 → NP_001035953.1 disks large-associated protein 4 isoform c

See identical proteins and their annotated locations for NP_001035953.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks several 5' coding exons, and initiates translation at a downstream in-frame start codon, compared to variant 1. It represents use of an alternate promoter. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AK150554, BC058948, BX004793, BY298512

Consensus CDS

CCDS38300.1

UniProtKB/Swiss-Prot

B1AZP2

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2, Q3UCF7

Related

ENSMUSP00000105194.3, ENSMUST00000109566.9

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
NM_001277186.1 → NP_001264115.1 disks large-associated protein 4 isoform d

See identical proteins and their annotated locations for NP_001264115.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon and contains an alternate in-frame exon, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

BC058948, BX004793, BX571766, BY122638, CJ111046, CJ117510, CX210973

Consensus CDS

CCDS71171.1

UniProtKB/Swiss-Prot

B1AZP2

Related

ENSMUSP00000105195.4, ENSMUST00000109567.10

Conserved Domains (1) summary

pfam03359
Location:647 → 989

GKAP; Guanylate-kinase-associated protein (GKAP) protein
NM_001277187.1 → NP_001264116.1 disks large-associated protein 4 isoform e

See identical proteins and their annotated locations for NP_001264116.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (e) is shorter than isoform a.

Source sequence(s)

BC058948, BX004793, BY122638, CJ111046, CJ117510, CX210973

Consensus CDS

CCDS71172.1

UniProtKB/Swiss-Prot

B1AZP2

UniProtKB/TrEMBL

B7ZNS2

Related

ENSMUSP00000105196.4, ENSMUST00000109568.10

Conserved Domains (1) summary

pfam03359
Location:643 → 975

GKAP; Guanylate-kinase-associated protein (GKAP) protein
NM_146128.6 → NP_666240.4 disks large-associated protein 4 isoform a

See identical proteins and their annotated locations for NP_666240.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

BC058948, BX004793, BY122638, CJ111046, CJ117510, CX210973

Consensus CDS

CCDS16968.1

UniProtKB/Swiss-Prot

B1AZP2, Q8R3U9

Related

ENSMUSP00000126980.3, ENSMUST00000169464.9

Conserved Domains (1) summary

pfam03359
Location:660 → 992

GKAP; Guanylate-kinase-associated protein (GKAP) protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

156455431..156606283

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161542.1 → XP_036017435.1 disks large-associated protein 4 isoform X1

UniProtKB/Swiss-Prot

Q8R3U9

Conserved Domains (1) summary

pfam03359
Location:660 → 992

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_017317840.3 → XP_017173329.1 disks large-associated protein 4 isoform X4

Conserved Domains (1) summary

pfam03359
Location:650 → 917

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499341.4 → XP_006499404.1 disks large-associated protein 4 isoform X3

Conserved Domains (1) summary

pfam03359
Location:660 → 920

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_036161546.1 → XP_036017439.1 disks large-associated protein 4 isoform X2

Conserved Domains (1) summary

pfam03359
Location:647 → 989

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499340.5 → XP_006499403.1 disks large-associated protein 4 isoform X1

See identical proteins and their annotated locations for XP_006499403.1

UniProtKB/Swiss-Prot

B1AZP2, Q8R3U9

Conserved Domains (1) summary

pfam03359
Location:660 → 992

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_030250649.1 → XP_030106509.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_036161568.1 → XP_036017461.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499350.5 → XP_006499413.1 disks large-associated protein 4 isoform X9

See identical proteins and their annotated locations for XP_006499413.1

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_030250650.2 → XP_030106510.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499343.5 → XP_006499406.1 disks large-associated protein 4 isoform X8

See identical proteins and their annotated locations for XP_006499406.1

Conserved Domains (1) summary

pfam03359
Location:17 → 298

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499348.5 → XP_006499411.1 disks large-associated protein 4 isoform X9

See identical proteins and their annotated locations for XP_006499411.1

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_017317843.2 → XP_017173332.1 disks large-associated protein 4 isoform X7

Conserved Domains (1) summary

pfam03359
Location:111 → 450

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_017317848.2 → XP_017173337.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_036161580.1 → XP_036017473.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_036161581.1 → XP_036017474.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_036161571.1 → XP_036017464.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499346.5 → XP_006499409.1 disks large-associated protein 4 isoform X8

See identical proteins and their annotated locations for XP_006499409.1

Conserved Domains (1) summary

pfam03359
Location:17 → 298

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_030250653.2 → XP_030106513.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499349.3 → XP_006499412.1 disks large-associated protein 4 isoform X9

See identical proteins and their annotated locations for XP_006499412.1

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_030250652.2 → XP_030106512.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499344.4 → XP_006499407.1 disks large-associated protein 4 isoform X8

See identical proteins and their annotated locations for XP_006499407.1

Conserved Domains (1) summary

pfam03359
Location:17 → 298

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_030250651.2 → XP_030106511.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_036161559.1 → XP_036017452.1 disks large-associated protein 4 isoform X8

Conserved Domains (1) summary

pfam03359
Location:17 → 298

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_036161553.1 → XP_036017446.1 disks large-associated protein 4 isoform X6

Conserved Domains (1) summary

pfam03359
Location:149 → 491

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499342.5 → XP_006499405.1 disks large-associated protein 4 isoform X5

Conserved Domains (1) summary

pfam03359
Location:162 → 494

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_006499345.5 → XP_006499408.1 disks large-associated protein 4 isoform X8

See identical proteins and their annotated locations for XP_006499408.1

Conserved Domains (1) summary

pfam03359
Location:17 → 298

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_017317850.3 → XP_017173339.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_036161569.1 → XP_036017462.1 disks large-associated protein 4 isoform X9

UniProtKB/TrEMBL

A0A6P5QSM0, E9PUF2

Conserved Domains (1) summary

pfam03359
Location:1 → 285

GKAP; Guanylate-kinase-associated protein (GKAP) protein