AP3B1
Sign in to saveAlso known as ADTB3, ADTB3A, HPS, HPS2, PE, adaptor related protein complex 3 beta 1 subunit, adaptor related protein complex 3 subunit beta 1
AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.
Gene data
AP3B1- Name
- adaptor related protein complex 3 subunit beta 1
- Type
- protein-coding
- Aliases
- ADTB3, ADTB3A, HPS, HPS2, PE
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012].
via MyGene.info
Gene · Ensembl
adaptor related protein complex 3 subunit beta 1
- Symbol
- AP3B1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 5:77,991,640-78,294,762
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 68125
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/8546
- genomic end
- 78294762
- genomic start
- 78000522
- chromosome
- human chromosome 5
- cytogenetic location
- 5q14.1
- expressed in
- smooth muscle tissue
Sources (7)
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Interactions
- References
- External links
- Further reading
AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.
== Function ==
Excerpted from Wikipedia’s “AP3B1” article, available under the CC BY-SA 4.0 licence.