InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AP3B1

Summary

InnateDB Protein

IDBP-30471.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AP3B1

Protein Name

adaptor-related protein complex 3, beta 1 subunit

Synonyms

ADTB3; ADTB3A; HPS; HPS2; PE;

Species

Homo sapiens

Ensembl Protein

ENSP00000255194

InnateDB Gene

IDBG-30467 (AP3B1)

Protein Structure

UniProt Annotation

Function

Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.

Subcellular Localization

Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus {ECO:0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.

Disease Associations

Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. {ECO:0000269PubMed:10024875}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:9151686, ECO:0000269PubMed:9182526}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	24 [view]
Protein-Protein	22 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0019903	protein phosphatase binding
GO:0030742	GTP-dependent protein binding

Biological Process

GO:0006622	protein targeting to lysosome
GO:0006886	intracellular protein transport
GO:0007596	blood coagulation
GO:0008089	anterograde axon cargo transport
GO:0016192	vesicle-mediated transport
GO:0019882	antigen processing and presentation
GO:0032438	melanosome organization
GO:0045087	innate immune response (InnateDB)
GO:0048007	antigen processing and presentation, exogenous lipid antigen via MHC class Ib
GO:0048490	anterograde synaptic vesicle transport
GO:0051138	positive regulation of NK T cell differentiation

Cellular Component

GO:0005765	lysosomal membrane
GO:0005794	Golgi apparatus
GO:0016020	membrane
GO:0030117	membrane coat
GO:0030123	AP-3 adaptor complex
GO:0030665	clathrin-coated vesicle membrane