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
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]

Related Research Articles

Vesicular transport adaptor protein

Vesicular transport adaptor proteins are proteins involved in forming complexes that function in the trafficking of molecules from one subcellular location to another. These complexes concentrate the correct cargo molecules in vesicles that bud or extrude off of one organelle and travel to another location, where the cargo is delivered. While some of the details of how these adaptor proteins achieve their trafficking specificity has been worked out, there is still much to be learned.

AP1M1 Protein-coding gene in the species Homo sapiens

AP-1 complex subunit mu-1 is a protein that in humans is encoded by the AP1M1 gene.

AP1G1 Protein-coding gene in the species Homo sapiens

AP-1 complex subunit gamma-1 is a protein that in humans is encoded by the AP1G1 gene.

AP1B1 Protein-coding gene in the species Homo sapiens

AP-1 complex subunit beta-1 is a protein that in humans is encoded by the AP1B1 gene.

AP3D1

AP-3 complex subunit delta-1 is a protein that in humans is encoded by the AP3D1 gene.

AP1M2

AP-1 complex subunit mu-2 is a protein that in humans is encoded by the AP1M2 gene.

AP1S1 Protein-coding gene in the species Homo sapiens

AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.

SNAPAP

SNARE-associated protein Snapin is a protein that in humans is encoded by the SNAPIN gene.

PLDN

Pallidin is a protein that in humans is encoded by the PLDN gene.

HPS1 Protein-coding gene in the species Homo sapiens

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

AP3M1

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.

HPS4

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.

AP3S2

AP-3 complex subunit sigma-2 is a protein that in humans is encoded by the AP3S2 gene.

HPS3

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.

AP3S1

AP-3 complex subunit sigma-1 is a protein that in humans is encoded by the AP3S1 gene.

BLOC1S2 Protein-coding gene in the species Homo sapiens

Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.

AP4M1

AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.

MUTED

Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.

CNO (gene) Protein-coding gene in the species Homo sapiens

Protein cappuccino homolog is a protein that in humans is encoded by the CNO gene.

BLOC-3 or biogenesis of lysosome-related organelles complex 3 is a ubiquitously expressed multisubunit protein complex.

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