Synonyms:CDA12, ENTREZ:3134, HGNC:4963, HLA-5.4, HLA-CDA12, HLA-F, HLAF, MIM:143110, NM_001098478, NM_001098479, NM_018950, NP_001091948, NP_001091949, NP_061823, XM_011514564, XM_017010810, XM_017010811, XM_017010812, XM_017010813, XM_017010814, XM_017010815, XP_011512866, XP_016866299, XP_016866300, XP_016866301, XP_016866302, XP_016866303, XP_016866304, XR_001743373, XR_001743374, XR_001743376, major histocompatibility complex, class I, F
Id:ENSG00000137403
Description:major histocompatibility complex, class I, F [Source:HGNC Symbol;Acc:HGNC:4963]
This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008]