AP1S3 gene

adaptor related protein complex 1 sigma 3 subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

From UniProt:

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. Involved in TLR3 trafficking (PubMed:24791904).

From NCBI Gene:

  • Psoriasis 15, pustular, susceptibility to

From UniProt:

Psoriasis 15, pustular (PSORS15): A form of pustular psoriasis, a life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high-grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein. [MIM:616106]

Cytogenetic Location: 2q36.1, which is the long (q) arm of chromosome 2 at position 36.1

Molecular Location: base pairs 223,755,330 to 223,837,602 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q36.1, which is the long (q) arm of chromosome 2 at position 36.1
  • PSORS15