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AP3B1

From Wikipedia, the free encyclopedia
AP3B1
Identifiers
AliasesAP3B1, ADTB3, ADTB3A, HPS, HPS2, PE, adaptor related protein complex 3 beta 1 subunit, adaptor related protein complex 3 subunit beta 1
External IDsOMIM: 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 MbChr 13: 94.5 – 94.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000132842Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021686Ensembl, 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. ^ a b 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. ^ a b "Entrez Gene: AP3B1 adaptor-related protein complex 3, beta 1 subunit".
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Further reading

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