DLGAP3

Disks large-associated protein 3 (DAP-3) also known as SAP90/PSD-95-associated protein 3 (SAPAP-3) is a protein that in humans is encoded by the DLGAP3 gene.

DLGAP3
Identifiers
AliasesDLGAP3, DAP3, SAPAP3, discs large homolog associated protein 3, DLG associated protein 3, SPAPA3
External IDsOMIM: 611413 MGI: 3039563 HomoloGene: 18276 GeneCards: DLGAP3
Orthologs
SpeciesHumanMouse
Entrez

58512

242667

Ensembl

ENSG00000116544

ENSMUSG00000042388

UniProt

O95886

Q6PFD5

RefSeq (mRNA)

NM_001080418

NM_001302081
NM_198618

RefSeq (protein)

NP_001073887

NP_001289010
NP_941020

Location (UCSC)Chr 1: 34.87 – 34.93 MbChr 4: 127.06 – 127.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

Mutations in DLGAP3 have been associated with trichotillomania.[5]

References

  1. GRCh38: Ensembl release 89: ENSG00000116544 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000042388 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Züchner S, Wendland JR, Ashley-Koch AE, Collins AL, Tran-Viet KN, Quinn K, et al. (January 2009). "Multiple rare SAPAP3 missense variants in trichotillomania and OCD". Molecular Psychiatry. 14 (1): 6–9. doi:10.1038/mp.2008.83. PMC 2803344. PMID 19096451.


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