InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Ap3b1

Summary

InnateDB Protein

IDBP-173350.6

Last Modified

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

Gene Symbol

Ap3b1

Protein Name

adaptor-related protein complex 3, beta 1 subunit

Synonyms

AP-3; AU015684; beta3A; C78395; Hps2; pe; pearl; rim2;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000022196

InnateDB Gene

IDBG-173348 (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. {ECO:0000269PubMed:21998198}.

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

Note=Defects in Ap3b1 are the cause of the autosomal recessive phenotype 'pearl' (pe). Pearl mice exhibit hypopigmentation, lysosomal secretion abnormalities, and platelet- dense granules with reduced levels of adenine nucleotides and serotonin. The changes in platelets lead to prolonged bleeding. Additionally, pearl mice exhibit reduced sensitivity in the dark- adapted state (PubMed:9931340). {ECO:0000269PubMed:9931340}.

Tissue Specificity

Ubiquitously expressed.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	15 [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:0006829	zinc ion transport
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:0005802	trans-Golgi network
GO:0016020	membrane
GO:0030117	membrane coat
GO:0030123	AP-3 adaptor complex
GO:0030665	clathrin-coated vesicle membrane