Primary Identifier | MGI:95929 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 15007 |
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 14-3-3 protein binding activity; TAP 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. Located in extracellular space. Is expressed in several structures, including brain; hemolymphoid system gland; liver; reproductive system; 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-A (major histocompatibility complex, class I, A); HLA-B (major histocompatibility complex, class I, B); and HLA-C (major histocompatibility complex, class I, C). PHENOTYPE: Unlike other class I genes, this gene is expressed only in liver cells and its product is secreted into the serum. The amount of protein in serum varies among inbred strains with different H2 haplotypes and is completely absent in the H2f strain B10.M. Homozygous knockout affects conventional NK (cNK) cell and gamma-delta T cell development in the liver. [provided by MGI curators] |