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Aliases for DLGAP3 Gene

Aliases for DLGAP3 Gene

  • Discs Large Homolog Associated Protein 3 2 3
  • Discs, Large (Drosophila) Homolog-Associated Protein 3 2 3 5
  • SAP90/PSD-95-Associated Protein 3 3 4
  • PSD-95/SAP90-Binding Protein 3 3 4
  • SAPAP3 3 4
  • DAP-3 3 4
  • DAP3 3 4
  • SAP90/PSD 95 Associated Protein 3 3

External Ids for DLGAP3 Gene

Previous GeneCards Identifiers for DLGAP3 Gene

  • GC01M034759
  • GC01M035000
  • GC01M035103
  • GC01M035331
  • GC01M033448

Summaries for DLGAP3 Gene

GeneCards Summary for DLGAP3 Gene

DLGAP3 (Discs Large Homolog Associated Protein 3) is a Protein Coding gene. Diseases associated with DLGAP3 include trichotillomania and impulse control disorder. GO annotations related to this gene include beta-amyloid binding. An important paralog of this gene is DLGAP1.

UniProtKB/Swiss-Prot for DLGAP3 Gene

  • May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLGAP3 Gene

Genomics for DLGAP3 Gene

Regulatory Elements for DLGAP3 Gene

Enhancers for DLGAP3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DLGAP3 on UCSC Golden Path with GeneCards custom track

Promoters for DLGAP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DLGAP3 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLGAP3 Gene

Chromosome:
1
Start:
34,862,120 bp from pter
End:
34,929,585 bp from pter
Size:
67,466 bases
Orientation:
Minus strand

Genomic View for DLGAP3 Gene

Genes around DLGAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLGAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLGAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLGAP3 Gene

Proteins for DLGAP3 Gene

  • Protein details for DLGAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95886-DLGP3_HUMAN
    Recommended name:
    Disks large-associated protein 3
    Protein Accession:
    O95886
    Secondary Accessions:
    • Q5TDD5
    • Q9H3X7

    Protein attributes for DLGAP3 Gene

    Size:
    979 amino acids
    Molecular mass:
    106040 Da
    Quaternary structure:
    • Interacts with DLG4/PSD-95.
    SequenceCaution:
    • Sequence=AAD20042.1; Type=Frameshift; Positions=833; Evidence={ECO:0000305};

neXtProt entry for DLGAP3 Gene

Proteomics data for DLGAP3 Gene at MOPED

Post-translational modifications for DLGAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLGAP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DLGAP3 Gene

Domains & Families for DLGAP3 Gene

Protein Domains for DLGAP3 Gene

Suggested Antigen Peptide Sequences for DLGAP3 Gene

Graphical View of Domain Structure for InterPro Entry

O95886

UniProtKB/Swiss-Prot:

DLGP3_HUMAN :
  • Belongs to the SAPAP family.
Family:
  • Belongs to the SAPAP family.
genes like me logo Genes that share domains with DLGAP3: view

No data available for Gene Families for DLGAP3 Gene

Function for DLGAP3 Gene

Molecular function for DLGAP3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.

Gene Ontology (GO) - Molecular Function for DLGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IEA --
genes like me logo Genes that share ontologies with DLGAP3: view
genes like me logo Genes that share phenotypes with DLGAP3: view

Animal Models for DLGAP3 Gene

MGI Knock Outs for DLGAP3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLGAP3 Gene

Localization for DLGAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLGAP3 Gene

Cell membrane; Peripheral membrane protein. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Note=Postsynaptic density of neuronal cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DLGAP3 Gene COMPARTMENTS Subcellular localization image for DLGAP3 gene
Compartment Confidence
nucleus 3
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for DLGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014069 postsynaptic density IEA --
GO:0030054 cell junction IEA --
GO:0043025 neuronal cell body IEA --
GO:0045202 synapse IEA --
GO:0045211 postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with DLGAP3: view

Pathways & Interactions for DLGAP3 Gene

SuperPathways for DLGAP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DLGAP3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DLGAP3 Gene

Drugs & Compounds for DLGAP3 Gene

No Compound Related Data Available

Transcripts for DLGAP3 Gene

Unigene Clusters for DLGAP3 Gene

Discs, large (Drosophila) homolog-associated protein 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DLGAP3 Gene

No ASD Table

Relevant External Links for DLGAP3 Gene

GeneLoc Exon Structure for
DLGAP3
ECgene alternative splicing isoforms for
DLGAP3

Expression for DLGAP3 Gene

mRNA expression in normal human tissues for DLGAP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLGAP3 Gene

This gene is overexpressed in Brain - Cortex (x5.6), Brain - Nucleus accumbens (basal ganglia) (x5.4), Brain - Putamen (basal ganglia) (x5.4), Brain - Hippocampus (x5.0), Brain - Caudate (basal ganglia) (x4.9), Brain - Frontal Cortex (BA9) (x4.7), Brain - Anterior cingulate cortex (BA24) (x4.7), and Brain - Amygdala (x4.4).

Protein differential expression in normal tissues from HIPED for DLGAP3 Gene

This gene is overexpressed in Brain (43.1) and Frontal cortex (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DLGAP3 Gene



SOURCE GeneReport for Unigene cluster for DLGAP3 Gene Hs.733945

genes like me logo Genes that share expression patterns with DLGAP3: view

Protein tissue co-expression partners for DLGAP3 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for DLGAP3 Gene

Orthologs for DLGAP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLGAP3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DLGAP3 35
  • 94.11 (n)
  • 97.75 (a)
DLGAP3 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLGAP3 35
  • 93.18 (n)
  • 96.2 (a)
DLGAP3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dlgap3 35
  • 92.38 (n)
  • 95.29 (a)
Dlgap3 16
Dlgap3 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DLGAP3 35
  • 99.71 (n)
  • 99.87 (a)
DLGAP3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dlgap3 35
  • 92.69 (n)
  • 95.39 (a)
oppossum
(Monodelphis domestica)
Mammalia DLGAP3 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLGAP3 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLGAP3 35
  • 75.48 (n)
  • 73.11 (a)
SMIM12 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLGAP3 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlgap3 35
  • 66.63 (n)
  • 67 (a)
zebrafish
(Danio rerio)
Actinopterygii dlgap3 35
  • 60.88 (n)
  • 57.91 (a)
dlgap3 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vlc 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2669 36
  • 21 (a)
OneToMany
Species with no ortholog for DLGAP3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DLGAP3 Gene

ENSEMBL:
Gene Tree for DLGAP3 (if available)
TreeFam:
Gene Tree for DLGAP3 (if available)

Paralogs for DLGAP3 Gene

Paralogs for DLGAP3 Gene

(3) SIMAP similar genes for DLGAP3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DLGAP3: view

Variants for DLGAP3 Gene

Sequence variations from dbSNP and Humsavar for DLGAP3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs3587 -- 34,907,773(+) TACCA(C/T)AAGCA intron-variant
rs1001616 -- 34,867,325(-) GTCCC(C/G)CTGTC intron-variant
rs944920 -- 34,915,691(+) GTTCA(C/T)GTCGT intron-variant
rs1931058 -- 34,908,745(+) GAGGA(A/C)AAGGT intron-variant
rs1931059 -- 34,900,455(-) ATGAC(A/G)AGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DLGAP3 Gene

Variant ID Type Subtype PubMed ID
esv2670062 CNV Deletion 23128226

Variation tolerance for DLGAP3 Gene

Residual Variation Intolerance Score: 2.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLGAP3 Gene

HapMap Linkage Disequilibrium report
DLGAP3
Human Gene Mutation Database (HGMD)
DLGAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLGAP3 Gene

Disorders for DLGAP3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DLGAP3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
trichotillomania
  • hair-pulling syndrome
impulse control disorder
  • disruptive, impulse control, and conduct disorders
obsessive-compulsive disorder
  • obsessive-compulsive disorder, protection against
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DLGAP3

Genetic Association Database (GAD)
DLGAP3
Human Genome Epidemiology (HuGE) Navigator
DLGAP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLGAP3
genes like me logo Genes that share disorders with DLGAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLGAP3 Gene

Publications for DLGAP3 Gene

  1. Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study. (PMID: 19051237) Bienvenu O.J. … Nestadt G. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 23 48 67
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  4. Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia. (PMID: 23414653) Li J.M. … Chen C.H. (Psychiatry Res 2013) 3
  5. Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation. (PMID: 22761992) Chua J.J. … Kindler S. (Sci Rep 2012) 3

Products for DLGAP3 Gene

Sources for DLGAP3 Gene

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