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DLGAP1 DLG associated protein 1 [ Homo sapiens (human) ]

Gene ID: 9229, updated on 7-Jun-2020

Summary

Official Symbol
DLGAP1provided by HGNC
Official Full Name
DLG associated protein 1provided by HGNC
Primary source
HGNC:HGNC:2905
See related
Ensembl:ENSG00000170579 MIM:605445
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DAP1; GKAP; DAP-1; SAPAP1; DLGAP1A; DLGAP1B; DAP-1-BETA; DAP-1-ALPHA
Expression
Biased expression in brain (RPKM 19.8), testis (RPKM 1.7) and 2 other tissues See more
Orthologs

Genomic context

See DLGAP1 in Genome Data Viewer
Location:
18p11.31
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (3496032..4455441, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3496030..4455310, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371965 Neighboring gene biorientation of chromosomes in cell division 1 pseudogene 1 Neighboring gene TGFB induced factor homeobox 1 Neighboring gene gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA Neighboring gene zinc finger protein 592 pseudogene Neighboring gene DLGAP1 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 39, pseudogene Neighboring gene DLGAP1 antisense RNA 2 Neighboring gene uncharacterized LOC105371967 Neighboring gene Sharpr-MPRA regulatory region 10669 Neighboring gene uncharacterized LOC107985137 Neighboring gene DLGAP1 antisense RNA 3 Neighboring gene RNA, U6 small nuclear 831, pseudogene Neighboring gene microRNA 6718 Neighboring gene DLGAP1 antisense RNA 4 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 66 Neighboring gene DLGAP1 antisense RNA 5 Neighboring gene Sharpr-MPRA regulatory region 437 Neighboring gene uncharacterized LOC105371968 Neighboring gene elongin C pseudogene 27

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
NHGRI GWA Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
The genetic architecture of economic and political preferences.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of discs, large (Drosophila) homolog-associated protein 1 (DLGAP1; LOC284214) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38442, MGC88156

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
chemical synaptic transmission NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
disks large-associated protein 1
Names
PSD-95/SAP90 binding protein 1
SAP90/PSD-95-associated protein 1
discs large homolog associated protein 1
guanylate kinase-associated protein

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001003809.3NP_001003809.1  disks large-associated protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001003809.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB000276, AK095761, AK294747, AK316099, AP002472, BC136453, CR743383
    Consensus CDS
    CCDS42406.1
    UniProtKB/Swiss-Prot
    O14490
    Related
    ENSP00000383011.2, ENST00000400147.6
    Conserved Domains (1) summary
    pfam03359
    Location:343675
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  2. NM_001242761.1NP_001229690.1  disks large-associated protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001229690.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region which results in a frameshift, compared to variant 1. The resulting isoform (3) has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK316099, AP005241, U67988
    Consensus CDS
    CCDS56053.1
    UniProtKB/Swiss-Prot
    O14490
    Related
    ENSP00000463864.1, ENST00000581527.5
    Conserved Domains (1) summary
    pfam03359
    Location:645911
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  3. NM_001242762.2NP_001229691.1  disks large-associated protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001229691.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks a portion of the 5' UTR and 5' coding region, initiates translation at an alternate start codon, and has multiple coding region differences, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB000277, AK095761, AK294717, AP002472, CR743383
    Consensus CDS
    CCDS56052.1
    UniProtKB/Swiss-Prot
    O14490
    Related
    ENSP00000437817.1, ENST00000534970.5
    Conserved Domains (1) summary
    pfam03359
    Location:329661
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  4. NM_001242763.1NP_001229692.1  disks large-associated protein 1 isoform 5

    See identical proteins and their annotated locations for NP_001229692.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks a portion of the 5' UTR and 5' coding region, initiates translation at an alternate start codon, and has multiple coding region differences, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB000276, AK095761, AK294717, AK294777, AP002472, AP002478, CR743383
    Consensus CDS
    CCDS74191.1
    UniProtKB/Swiss-Prot
    O14490
    UniProtKB/TrEMBL
    A0A0A0MTP4, B7Z2J5
    Related
    ENSP00000445973.2, ENST00000515196.6
    Conserved Domains (1) summary
    pfam03359
    Location:367699
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  5. NM_001242764.2NP_001229693.1  disks large-associated protein 1 isoform 6

    See identical proteins and their annotated locations for NP_001229693.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB000276, AK095761, AK299880, AP002472, AP005204, BC136453, CR743383
    Consensus CDS
    CCDS56051.1
    UniProtKB/Swiss-Prot
    O14490
    Related
    ENSP00000383019.1, ENST00000400155.5
    Conserved Domains (1) summary
    pfam03359
    Location:351683
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  6. NM_001242765.1NP_001229694.1  disks large-associated protein 1 isoform 7

    See identical proteins and their annotated locations for NP_001229694.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks a portion of the 5' UTR and 5' coding region, initiates translation at an alternate start codon, and uses an alternate splice site in the 3' coding region which results in a frameshift, compared to variant 1. The resulting isoform (7) has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK294747, U67988
    Consensus CDS
    CCDS56049.1
    UniProtKB/Swiss-Prot
    O14490
    Related
    ENSP00000383010.2, ENST00000400145.6
    Conserved Domains (1) summary
    pfam03359
    Location:343609
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  7. NM_001242766.2NP_001229695.1  disks large-associated protein 1 isoform 8

    See identical proteins and their annotated locations for NP_001229695.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks a portion of the 5' UTR and 5' coding region, initiates translation at an alternate start codon, and has multiple coding region differences, compared to variant 1. The encoded isoform (8) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB000276, AK095761, AK294747, AP002472, BC136453, CR743383
    Consensus CDS
    CCDS56050.1
    UniProtKB/Swiss-Prot
    O14490
    Related
    ENSP00000446312.1, ENST00000539435.5
    Conserved Domains (1) summary
    pfam03359
    Location:353685
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  8. NM_001308390.2NP_001295319.1  disks large-associated protein 1 isoform 9

    See identical proteins and their annotated locations for NP_001295319.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (9) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AP002472, AP002478, AP005204
    Consensus CDS
    CCDS77146.1
    UniProtKB/TrEMBL
    A8MXQ8
    Related
    ENSP00000383014.3, ENST00000400150.7
    Conserved Domains (1) summary
    pfam03359
    Location:361693
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  9. NM_004746.4NP_004737.2  disks large-associated protein 1 isoform 1

    See identical proteins and their annotated locations for NP_004737.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest variant and encodes the longest isoform (1).
    Source sequence(s)
    AK095761, AK316099, AP002472, AP005241, AP005403, BC136453, CR743383
    Consensus CDS
    CCDS11836.1
    UniProtKB/Swiss-Prot
    O14490
    Related
    ENSP00000316377.3, ENST00000315677.8
    Conserved Domains (1) summary
    pfam03359
    Location:645977
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    3496032..4455441 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451288.1XP_024307056.1  disks large-associated protein 1 isoform X1

    Conserved Domains (1) summary
    pfam03359
    Location:655987
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  2. XM_005258171.3XP_005258228.1  disks large-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005258228.1

    Conserved Domains (1) summary
    pfam03359
    Location:655987
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  3. XM_005258172.1XP_005258229.1  disks large-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005258229.1

    Conserved Domains (1) summary
    pfam03359
    Location:655987
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  4. XM_005258173.3XP_005258230.2  disks large-associated protein 1 isoform X2

  5. XM_017026081.1XP_016881570.1  disks large-associated protein 1 isoform X5

  6. XM_006722367.3XP_006722430.1  disks large-associated protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006722430.1

    Conserved Domains (1) summary
    pfam03359
    Location:399731
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  7. XM_017026080.1XP_016881569.1  disks large-associated protein 1 isoform X4

  8. XM_005258174.4XP_005258231.1  disks large-associated protein 1 isoform X7

    See identical proteins and their annotated locations for XP_005258231.1

    Related
    ENSP00000383013.3, ENST00000400149.7
    Conserved Domains (1) summary
    pfam03359
    Location:363695
    GKAP; Guanylate-kinase-associated protein (GKAP) protein
  9. XM_017026083.1XP_016881572.1  disks large-associated protein 1 isoform X8

  10. XM_017026082.1XP_016881571.1  disks large-associated protein 1 isoform X6

  11. XM_017026084.1XP_016881573.1  disks large-associated protein 1 isoform X9

  12. XM_017026085.2XP_016881574.1  disks large-associated protein 1 isoform X10

  13. XM_011525771.3XP_011524073.1  disks large-associated protein 1 isoform X12

    See identical proteins and their annotated locations for XP_011524073.1

    UniProtKB/TrEMBL
    Q6IS01
    Related
    ENSP00000491005.1, ENST00000639615.1
  14. XM_011525770.3XP_011524072.1  disks large-associated protein 1 isoform X11

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