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AP-3 complex subunit beta-1; adapter-related protein complex 3 subunit beta-1; adaptor protein complex AP-3 beta-1 subunit; beta3A-adaptin; clathrin assembly protein complex 3 beta-1 large chain (AP3B1, ADTB3A)
Function:
- subunit of non-clathrin- & clathrin-associated adaptor protein complex 3 (AP-3)
- phosphorylated on Ser
Structure:
- belongs to the adaptor complexes large subunit family
Compartment:
- Golgi, cytoplasmic vesicle
- clathrin-coated vesicle membrane
- peripheral membrane, cytoplasmic side
- component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (putative)
Alternative splicing: named isoforms=2
Expression: ubiquitously expressed
Pathology:
- defects in AP3B1 are associated with Hermansky-Pudlak syndrome 2
Related
clathrin (triskelion)
General
beta adaptin (adaptor-related protein complex, beta subunit)
phosphoprotein
Properties
SIZE: entity length = 1094 aa
MW = 121 kD
COMPARTMENT: cytoplasm
golgi
MOTIF: Ser phosphorylation site {S276}
Ser phosphorylation site {S609}
serine-rich region {677-802}
MOTIF: serine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 603401
UniProt O00203
Pfam PF01602
Kegg hsa:8546
References
- UniProt :accession O00203
- AP3B1base; Note: AP3B1 mutation db
http://bioinf.uta.fi/AP3B1base/
- Mutations of the ADTB3A gene
RetinaInternational's Scientific Newsletter
http://www.retina-international.com/sci-news/adtb3mut.htm
- Albinism database (ADB); AP3B1 mutations
http://albinismdb.med.umn.edu/hps2mut.htm
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3B1
Component-of
HA3/AP3 adaptor complex