AP3B1

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Adaptor-related protein complex 3, beta 1 subunit
Identifiers
Symbols AP3B1 ; ADTB3; ADTB3A; HPS; HPS2; PE
External IDs OMIM603401 MGI1333879 HomoloGene68125 GeneCards: AP3B1 Gene
RNA expression pattern
PBB GE AP3B1 203142 s at tn.png
PBB GE AP3B1 203141 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8546 11774
Ensembl ENSG00000132842 ENSMUSG00000021686
UniProt O00203 Q9Z1T1
RefSeq (mRNA) NM_001271769 NM_009680
RefSeq (protein) NP_001258698 NP_033810
Location (UCSC) Chr 5:
77.3 – 77.59 Mb
Chr 13:
94.36 – 94.57 Mb
PubMed search [1] [2]

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.[1][2][3]

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.[3]

Interactions[edit]

AP3B1 has been shown to interact with AP3S2.[1]

References[edit]

  1. ^ a b Dell'Angelica EC, Ooi CE, Bonifacino JS (Jul 1997). "Beta3A-adaptin, a subunit of the adaptor-like complex AP-3". J Biol Chem 272 (24): 15078–84. doi:10.1074/jbc.272.24.15078. PMID 9182526. 
  2. ^ Simpson F, Peden AA, Christopoulou L, Robinson MS (Jun 1997). "Characterization of the Adaptor-related Protein Complex, AP-3". J Cell Biol 137 (4): 835–45. doi:10.1083/jcb.137.4.835. PMC 2139840. PMID 9151686. 
  3. ^ a b "Entrez Gene: AP3B1 adaptor-related protein complex 3, beta 1 subunit". 

External links[edit]

Further reading[edit]