InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AP1S2

Summary

InnateDB Protein

IDBP-47031.6

Last Modified

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

Gene Symbol

AP1S2

Protein Name

adaptor-related protein complex 1, sigma 2 subunit

Synonyms

MGC:1902; MRX59; MRXS21; MRXS5; MRXSF; PGS; SIGMA1B;

Species

Homo sapiens

Ensembl Protein

ENSP00000328789

InnateDB Gene

IDBG-47029 (AP1S2)

Protein Structure

UniProt Annotation

Function

Subunit of clathrin-associated adaptor protein complex 1 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.

Subcellular Localization

Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.

Disease Associations

Mental retardation, X-linked 59 (MRX59) [MIM:300630]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX59 consists of a mild-to-profound mental retardation. Other features includes hypotonia early in life and delay in walking. {ECO:0000269PubMed:17186471}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008565	protein transporter activity

Biological Process

GO:0006810	transport
GO:0006886	intracellular protein transport
GO:0006892	post-Golgi vesicle-mediated transport
GO:0015031	protein transport
GO:0016032	viral process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0050690	regulation of defense response to virus by virus
GO:0061024	membrane organization

Cellular Component

GO:0000139	Golgi membrane
GO:0005765	lysosomal membrane
GO:0005829	cytosol
GO:0005905	coated pit
GO:0030119	AP-type membrane coat adaptor complex
GO:0030659	cytoplasmic vesicle membrane
GO:0032588	trans-Golgi network membrane