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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]
HLA-F (Major Histocompatibility Complex, Class I, F) is a Protein Coding gene. Among its related pathways are Antigen processing-Cross presentation and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and TAP1 binding. An important paralog of this gene is HLA-A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 10605026 |
GO:0030881 | beta-2-microglobulin binding | IDA | 28636952 |
GO:0042605 | peptide antigen binding | IDA | 23851683 |
GO:0046978 | TAP1 binding | IPI | 10605026 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA,IDA | 23851683 |
GO:0005768 | endosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection |
CTL Mediated Apoptosis
.38
|
|
2 | Human cytomegalovirus infection | ||
3 | Antigen processing-Cross presentation | ||
4 | Class I MHC mediated antigen processing and presentation | ||
5 | Interferon gamma signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001916 | positive regulation of T cell mediated cytotoxicity | IBA,IMP | 23851683 |
GO:0002376 | immune system process | IEA | -- |
GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I | TAS | -- |
GO:0002476 | antigen processing and presentation of endogenous peptide antigen via MHC class Ib | IDA | 28636952 |
GO:0002477 | antigen processing and presentation of exogenous peptide antigen via MHC class Ib | IDA | 23851683 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PATR-F 30 |
|
||
PATR-AL 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | DLA-79 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gm7030 30 17 |
|
||
Gm11127 17 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1736924 | - | p.Pro272Ser | |||
rs17875379 | - | p.Ala13Val | |||
rs17875380 | - | p.Pro71Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv992e201 | CNV | deletion | 23290073 |
esv25966 | CNV | gain+loss | 19812545 |
nsv1074389 | CNV | deletion | 25765185 |
nsv10809 | CNV | gain | 18304495 |
nsv1122126 | CNV | deletion | 24896259 |
nsv1144137 | CNV | deletion | 24896259 |
nsv428139 | CNV | gain | 18775914 |
nsv462673 | CNV | loss | 19166990 |
nsv508397 | CNV | deletion | 20534489 |
nsv601230 | CNV | loss | 21841781 |
nsv970101 | CNV | duplication | 23825009 |
No disorders were found for HLA-F Gene.