DLGAP3 DLG associated protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DLGAP3provided by HGNC
Official Full Name: DLG associated protein 3provided by HGNC
Primary source: HGNC:HGNC:30368
See related: Ensembl:ENSG00000116544 MIM:611413; AllianceGenome:HGNC:30368
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: DAP3; SAPAP3; SPAPA3
Summary: Predicted to enable PDZ domain binding activity; molecular adaptor activity; and scaffold protein binding activity. Predicted to be involved in protein-containing complex assembly. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including cholinergic synapse; glutamatergic synapse; and neuromuscular junction. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 6.5) and testis (RPKM 1.3) See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (34865436..34929650, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (34728067..34792309, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (35331037..35395251, complement)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Valence processing alterations in SAPAP3 knockout mice and human OCD.
Title: Valence processing alterations in SAPAP3 knockout mice and human OCD.
SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities.
Title: SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities.
several rare variants of the DLGAP3 gene were found in this study which may be associated with schizophrenia.
Title: Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia.
This study provides suggestive evidence that DLGAP3 and its interactive effect with SLC1A1 might be involved in susceptibility to developing OC symptoms in schizophrenia patients receiving AAP treatment.
Title: Interaction between genetic variants of DLGAP3 and SLC1A1 affecting the risk of atypical antipsychotics-induced obsessive-compulsive symptoms.
This study generated preliminary evidence to link SAPAP3 variants to the development of earlier onset obsessive-compulsive disorder.
Title: Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population.
DLGAP3 remains a promising candidate gene for Tourette Syndrome.
Title: Family-based genetic association study of DLGAP3 in Tourette Syndrome.
Sapap3 is a promising functional candidate gene for human grooming disorder (obsessive compulsive disorder).
Title: Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.
Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
Title: Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
Observational study of gene-disease association. (HuGE Navigator)
Title: Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in modification of postsynaptic structure	IEA Inferred from Electronic Annotation more info
involved_in modulation of chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in signaling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cholinergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in neuromuscular junction	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
is_active_in postsynaptic specialization	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: disks large-associated protein 3

Names: DAP-3; PSD-95/SAP90-binding protein 3; SAP90/PSD-95-associated protein 3; discs large homolog associated protein 3

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_001080418.3 → NP_001073887.1 disks large-associated protein 3

See identical proteins and their annotated locations for NP_001073887.1

Status: VALIDATED

Source sequence(s)

AC114490, AL122010

Consensus CDS

CCDS30670.1

UniProtKB/Swiss-Prot

O95886, Q5TDD5, Q9H3X7

Related

ENSP00000362444.1, ENST00000373347.6

Conserved Domains (1) summary

pfam03359
Location:628 → 979

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

34865436..34929650 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541879.3 → XP_011540181.1 disks large-associated protein 3 isoform X1

See identical proteins and their annotated locations for XP_011540181.1

UniProtKB/Swiss-Prot

O95886, Q5TDD5, Q9H3X7

Conserved Domains (1) summary

pfam03359
Location:628 → 979

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_047426631.1 → XP_047282587.1 disks large-associated protein 3 isoform X1

UniProtKB/Swiss-Prot

O95886, Q5TDD5, Q9H3X7
XM_011541880.3 → XP_011540182.1 disks large-associated protein 3 isoform X2

Conserved Domains (1) summary

pfam03359
Location:131 → 482

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