AP3B1

Last updated
AP3B1
Identifiers
Aliases AP3B1 , ADTB3, ADTB3A, HPS, HPS2, PE, adaptor related protein complex 3 beta 1 subunit, adaptor related protein complex 3 subunit beta 1
External IDs OMIM: 603401; MGI: 1333879; HomoloGene: 68125; GeneCards: AP3B1; OMA:AP3B1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001271769
NM_003664

NM_009680

RefSeq (protein)

NP_001258698
NP_003655

NP_033810

Location (UCSC) Chr 5: 78 – 78.29 Mb Chr 13: 94.5 – 94.7 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene. [5] [6] [7]

Contents

Function

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 2. [7]

Interactions

AP3B1 has been shown to interact with AP3S2. [5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000132842 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021686 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. 1 2 Dell'Angelica EC, Ooi CE, Bonifacino JS (Jun 1997). "Beta3A-adaptin, a subunit of the adaptor-like complex AP-3". The Journal of Biological Chemistry. 272 (24): 15078–84. doi: 10.1074/jbc.272.24.15078 . PMID   9182526.
  6. Simpson F, Peden AA, Christopoulou L, Robinson MS (May 1997). "Characterization of the adaptor-related protein complex, AP-3". The Journal of Cell Biology. 137 (4): 835–45. doi:10.1083/jcb.137.4.835. PMC   2139840 . PMID   9151686.
  7. 1 2 "Entrez Gene: AP3B1 adaptor-related protein complex 3, beta 1 subunit".

Further reading