HLA-F (major histocompatibility complex, class I, F)

2013-12-01  

Identity

HGNC
LOCATION
6p22.1
LOCUSID
ALIAS
CDA12,HLA-5.4,HLA-CDA12,HLAF
FUSION GENES

Other Information

Locus ID:

NCBI: 3134
MIM: 143110
HGNC: 4963
Ensembl: ENSG00000204642

Variants:

dbSNP: 3134
ClinVar: 3134
TCGA: ENSG00000204642
COSMIC: HLA-F

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204642ENST00000259951P30511
ENSG00000204642ENST00000259951Q5JZ48
ENSG00000204642ENST00000334668P30511
ENSG00000204642ENST00000334668Q5JZ47
ENSG00000204642ENST00000376861P30511
ENSG00000204642ENST00000376861Q5JZ47
ENSG00000204642ENST00000434407P30511
ENSG00000204642ENST00000444621H0Y4J4
ENSG00000204642ENST00000465459A0A0D9SFW8
ENSG00000204642ENST00000475996A0A0D9SF55

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Antigen processing and presentationKEGGko04612
Type I diabetes mellitusKEGGko04940
Autoimmune thyroid diseaseKEGGko05320
Allograft rejectionKEGGko05330
Graft-versus-host diseaseKEGGko05332
Cell adhesion molecules (CAMs)KEGGhsa04514
Antigen processing and presentationKEGGhsa04612
Type I diabetes mellitusKEGGhsa04940
Autoimmune thyroid diseaseKEGGhsa05320
Allograft rejectionKEGGhsa05330
Graft-versus-host diseaseKEGGhsa05332
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Viral myocarditisKEGGhsa05416
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974
Endosomal/Vacuolar pathwayREACTOMER-HSA-1236977
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon alpha/beta signalingREACTOMER-HSA-909733
Interferon gamma signalingREACTOMER-HSA-877300

References

Pubmed IDYearTitleCitations
128742282003Protein expression and peptide binding suggest unique and interacting functional roles for HLA-E, F, and G in maternal-placental immune recognition.68
274554212016Open conformers of HLA-F are high-affinity ligands of the activating NK-cell receptor KIR3DS1.61
196647462009Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.53
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
240182702013HLA-F and MHC class I open conformers are ligands for NK cell Ig-like receptors.48
269284642016Major histocompatibility complex class I molecules protect motor neurons from astrocyte-induced toxicity in amyotrophic lateral sclerosis.36
204837832010HLA-F complex without peptide binds to MHC class I protein in the open conformer form.30
167098032006Selective export of HLA-F by its cytoplasmic tail.29
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
281853622017Definitive class I human leukocyte antigen expression in gestational placentation: HLA-F, HLA-E, HLA-C, and HLA-G in extravillous trophoblast invasion on placentation, pregnancy, and parturition.26

Citation

Dessen P

HLA-F (major histocompatibility complex, class I, F)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53636/hla-f