• Gene id: 3134

Gene Summary

• Gene Symbol: HLA-F   Gene   UCSC   Ensembl
• Aliases: CDA12, HLA-5.4, HLA-CDA12, HLAF
• Gene name: major histocompatibility complex, class I, F
• Alternate names: HLA class I histocompatibility antigen, alpha chain F, HLA F antigen, MHC class I antigen F, leukocyte antigen F,
• Gene location: 6p22.1 (29723339: 29740354)     Exons: 13     NC_000006.12
• Gene summary(Entrez): 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 m
• OMIM: 600986

Protein Summary

• Protein general information: P30511  
  • Name: HLA class I histocompatibility antigen, alpha chain F (CDA12) (HLA F antigen) (Leukocyte antigen F) (MHC class I antigen F)
  • Length: 346  
  • Mass: 39062
  • Tissue specificity: Expressed in resting B cells (at protein level). Expressed in secondary lymphoid organs rich in B and T cells such as the tonsils, spleen, and thymus (at protein level) (PubMed
• Sequence:

  MAPRSLLLLLSGALALTDTWAGSHSLRYFSTAVSRPGRGEPRYIAVEYVDDTQFLRFDSDAAIPRMEPREPWVEQ
  EGPQYWEWTTGYAKANAQTDRVALRNLLRRYNQSEAGSHTLQGMNGCDMGPDGRLLRGYHQHAYDGKDYISLNED
  LRSWTAADTVAQITQRFYEAEEYAEEFRTYLEGECLELLRRYLENGKETLQRADPPKAHVAHHPISDHEATLRCW
  ALGFYPAEITLTWQRDGEEQTQDTELVETRPAGDGTFQKWAAVVVPPGEEQRYTCHVQHEGLPQPLILRWEQSPQ
  PTIPIVGIVAGLVVLGAVVTGAVVAAVMWRKKSSDRNRGSYSQAAV

• Structural information:
  • Protein Domains: (206..29-)
    (/note="Ig-like-C1-type)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003006  IPR003597   IPR011161  IPR037055  IPR011162  IPR001039  
  • Prosite: PS50835 PS00290
  • PDB: 5IUE 5KNM
  • PDBsum: 5IUE 5KNM
  • STRING: ENSP00000259951
• Other Databases: GeneCards:  HLA-F  Malacards:  HLA-F

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0002476	antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0002476	antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IDA	biological process
GO:1901215	negative regulation of neuron death	IDA	biological process
GO:0045953	negative regulation of natural killer cell mediated cytotoxicity	IDA	biological process
GO:0000139	Golgi membrane	IDA	cellular component
GO:0071889	14-3-3 protein binding	IDA	molecular function
GO:0002728	negative regulation of natural killer cell cytokine production	IDA	biological process
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0031901	early endosome membrane	IDA	cellular component
GO:0002729	positive regulation of natural killer cell cytokine production	IDA	biological process
GO:0030881	beta-2-microglobulin binding	IDA	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0002477	antigen processing and presentation of exogenous peptide antigen via MHC class Ib	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0002725	negative regulation of T cell cytokine production	IDA	biological process
GO:0043322	negative regulation of natural killer cell degranulation	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043323	positive regulation of natural killer cell degranulation	IDA	biological process
GO:0032398	MHC class Ib protein complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001916	positive regulation of T cell mediated cytotoxicity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0055038	recycling endosome membrane	TAS	cellular component
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0046978	TAP1 binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0046979	TAP2 binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05165	Human papillomavirus infection
hsa04144	Endocytosis
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05203	Viral carcinogenesis
hsa05169	Epstein-Barr virus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04145	Phagosome
hsa04218	Cellular senescence
hsa04514	Cell adhesion molecules
hsa04612	Antigen processing and presentation
hsa05416	Viral myocarditis
hsa05320	Autoimmune thyroid disease
hsa04940	Type I diabetes mellitus
hsa05332	Graft-versus-host disease
hsa05330	Allograft rejection

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R