Primary Identifier | MGI:95933 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 15015 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including TAP complex binding activity; beta-2-microglobulin binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent; antigen processing and presentation of endogenous peptide antigen via MHC class Ib; and positive regulation of T cell mediated cytotoxicity. Predicted to be located in several cellular components, including Golgi medial cisterna; cell surface; and endoplasmic reticulum exit site. Predicted to be part of MHC class I peptide loading complex; MHC class I protein complex; and MHC class Ib protein complex. Predicted to be active in external side of plasma membrane and extracellular space. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and small intestine. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); asthma (multiple); autoimmune disease (multiple); eye disease (multiple); and inner ear disease (multiple). Orthologous to several human genes including HLA-B (major histocompatibility complex, class I, B); HLA-C (major histocompatibility complex, class I, C); and HLA-E (major histocompatibility complex, class I, E). PHENOTYPE: This locus controls an antigen on peripheral T-cells of spleen, lymph node and bone marrow, but not on thymocytes. Strain distribution patterns vary by assay, measuring presence/absence of antigen, protein acidic/basic qualities and molecular polymorphisms. [provided by MGI curators] |