| Primary Identifier | MGI:1201689 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 21356 |
| 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 MHC class I protein complex binding activity; TAP binding activity; and TAP complex binding activity. Involved in antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent and peptide antigen stabilization. Acts upstream of or within defense response. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be part of Tapasin-ERp57 complex. Is expressed in several structures, including genitourinary system; hemolymphoid system; nervous system; notochord; and retina. Human ortholog(s) of this gene implicated in severe combined immunodeficiency. Orthologous to human TAPBP (TAP binding protein). PHENOTYPE: Homozygous inactivation of this gene leads to reduced and thermolabile MHC class I surface expression due to impaired peptide loading with stabilizing peptides, impaired T cell selection, altered NK repertoire, lower CD8+ T cell numbers, and impaired responses to select class I-restricted antigens. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
