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    HLA-F major histocompatibility complex, class I, F [ Homo sapiens (human) ]

    Gene ID: 3134, updated on 15-Jun-2013
    Official Symbol
    HLA-Fprovided by HGNC
    Official Full Name
    major histocompatibility complex, class I, Fprovided by HGNC
    Primary source
    HGNC:4963
    Locus tag
    DADB-68M4.2
    See related
    Ensembl:ENSG00000204642; HPRD:00884; MIM:143110; Vega:OTTHUMG00000031156
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HLAF; CDA12; HLA-5.4; HLA-CDA12
    Summary
    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]
    Location :
    6p21.3
    Sequence :
    Chromosome: 6; NC_000006.11 (29691117..29695073)
    See HLA-F in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene zinc finger, DHHC-type containing 20 pseudogene 1 Neighboring gene HLA complex group 4 pseudogene 11 Neighboring gene HLA-F antisense RNA 1 Neighboring gene ribosomal protein L23a pseudogene 1 Neighboring gene MHC class I polypeptide-related sequence E (pseudogene) Neighboring gene HLA complex group 9 pseudogene 5 Neighboring gene interferon induced transmembrane protein 4 pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Modulation of HIV pathogenesis and T-cell signaling by HIV-1 Nef. Saxena SK, et al. Future Virol, 2012 Jun 1. PMID 22844345.
    2. Alteration of HLA-F and HLA I antigen expression in the tumor is associated with survival in patients with esophageal squamous cell carcinoma. Zhang X, et al. Int J Cancer, 2013 Jan 1. PMID 22544725.
    3. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. Udeshi ND, et al. Mol Cell Proteomics, 2012 May. PMID 22505724.
    4. Minor contribution of HLA class I-associated selective pressure to the variability of HIV-1 accessory protein Vpu. Hasan Z, et al. Biochem Biophys Res Commun, 2012 May 4. PMID 22503975.
    5. [Mifepristone inhibits the progesterone-induced expressions of HLA-G, -E, -F genes in trophoblasts during first trimester]. Zeng B, et al. Zhonghua Yi Xue Za Zhi, 2012 Jan 3. PMID 22490650.

    See all (106) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Upregulated HLA-F expression (p = 0.026) and downregulated HLA I expression (p = 0.013) could be an independent unfavorable prognostic factor.
      Title: Alteration of HLA-F and HLA I antigen expression in the tumor is associated with survival in patients with esophageal squamous cell carcinoma.
    2. Mifepristone can inhibit the effects of progesterone by down-regulating the expressions of HLA-G, HLA-E and HLA-F mRNA in trophoblasts during the first trimester.
      Title: [Mifepristone inhibits the progesterone-induced expressions of HLA-G, -E, -F genes in trophoblasts during first trimester].
    3. surface marker on activated lymphocytes
      Title: HLA-F is a surface marker on activated lymphocytes.
    4. These data suggest that HLA-F is expressed independently of peptide and that a physical interaction specific to MHC-I HC plays a role in the function of MHC-I HC expression in activated lymphocytes.
      Title: HLA-F complex without peptide binds to MHC class I protein in the open conformer form.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.
    6. the role of NKG2D and 2B4 is not focussed on trophoblast recognition in normal pregnancy, but is more likely involved in cross-talk among maternal cells of the placental bed
      Title: Natural-killer cell ligands at the maternal-fetal interface: UL-16 binding proteins, MHC class-I chain related molecules, HLA-F and CD48.
    7. Across HIV Gag protein, the rise of polymorphisms from independent origin during the last twenty years of epidemic was related to an association with an HLA allele accumulated in one of either B or F subtypes
      Title: HLA-driven convergence of HIV-1 viral subtypes B and F toward the adaptation to immune responses in human populations.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.
    9. strong positive directional selection is acting for maintaining the observed low polymorphism on HLA-E, -F and -G loci
      Title: HLA-G, -E and -F: allelism, function and evolution.
    10. HLA-F is entirely dependent on its cytoplasmic tail for export from the endoplasmic reticulum.
      Title: Selective export of HLA-F by its cytoplasmic tail.
    Submit: New GeneRIF Correction See all (13)

    Review eQTL and phenotype association data in this region using PheGenI

    Protein Gene Interaction Pubs
    Env, gp160, envelope glycoprotein env HIV-1 gp160-derived peptide p18 presented by H-2Dd class I major histocompatibility complex molecules is processed by angiotensin-1 converting enzyme (ACE) prior to T cell stimulation by the peptide p18 PubMed
    Envelope surface glycoprotein gp120 env Treatment of CD4+ T cells with HIV-1 gp120 significantly increases CD4 association with CD3, CD45RA, CD45RB, CD59, CD38, CD26 and HLA class I, and decreases that with CD45RC PubMed
    env Conformational changes in HIV-1 gp120, including an enhanced expression of the V3 loop of gp120 and of epitopes that are exposed upon CD4 binding, are consistent with the formation of a multimolecular complex between HLA class I and gp120/160 PubMed
    Envelope transmembrane glycoprotein gp41 env Soluble HIV-1 gp41 can selectively enhance MHC class I and II expression on human B cells, but does not increase expression of other cell surface antigens such as CD21 and CD54 (ICAM-1) PubMed
    env Soluble HIV-1 gp41 enhancement effects on MHC class I and II antigen expression can be inhibited by soluble gp41-binding proteins of 45, 49 and 62 kD from human B cells PubMed
    env HIV-1 gp41 selectively enhances MHC class I, ICAM-1, IFN-alpha, IFN-beta, and IFN-omega expression in H9 cells PubMed
    Nef, p27 nef Double (W13A/V16R) and triple (W13A/V16R/M20A) substitution mutants of HIV-1 Nef fail to downregulate MHC-I PubMed
    nef HIV-1 Nef-mediated downregulation of MHC-I requires Nef motif EEEE(65)-dependent binding to the sorting protein PACS-2, which targets Nef to the paranuclear region and enables Nef PXXP(75) to bind and activate a trans-Golgi network localized Src kinase PubMed
    nef HIV-1 Nef-induced downregulation of MHC-I expression and MHC-I targeting to the trans-Golgi network (TGN) require the binding of Nef to PACS-1, a molecule that controls the TGN localization of the cellular protein furin PubMed
    nef HIV-1 Nef downregulates expression of MHC-I by blocking transport of MHC-I molecules to the cell surface through a mechanism that requires phosphoinositide 3-kinase (PI 3-kinase) activity PubMed
    nef Deletion of the 19 N-terminal amino acids including the myristoylation signal from HIV-1 Nef inhibits both MHC-I and CD4 downregulation while preserving most CTL, T-helper and B-cell epitopes PubMed
    nef Interaction of HIV-1 Nef with the mu subunit of AP adaptor complexes requires the recognition of tyrosine-based sorting signals, which likely facilitates the connection between MHC I and the clathrin-dependent sorting machinery PubMed
    nef A methionine residue at amino acid 20 in the alpha-helix domain is required for the ability of HIV-1 Nef to downregulate MHC-I expression but not for the downregulation of CD4 PubMed
    nef Four glutamic acids from position 62 to 65 in the SH3 domain of HIV-1 Nef bind to the cytoplasmic tail at position 320Y of MHC-I, and are required for the Nef-mediated downregulation of MHC-I from the cell surface PubMed
    nef HIV-1 Nef downregulates the expression of MHC-I at the surface of lymphoid, monocytic and epithelial cells, causing MHC-I molecules to be rapidly internalized, accumulated in endosomal vesicles and degraded PubMed
    nef Amino acid residue Y320 in the MHC-I cytoplasmic domain and residues E62-65 and P78 in HIV-1 Nef are required for interaction with the mu subunit of AP-1 PubMed
    nef MHC-I is found in the Rab7(+) vesicles and is targeted for degradation via the activity of the Nef-interacting protein, beta-COP PubMed
    Tat, p14 tat HIV-1 Tat upregulates MHC class I in monocyte-derived dendritic cells and CD8(+) T cells, thereby driving T cell-mediated immune responses PubMed
    tat HIV-1 Tat represses the MHC class I gene promoter by binding to and repressing TAFII250, a component of the general transcription factor TFIID, suggesting a mechanism for HIV-1 to downregulate MHC class I expression and avoid immune surveillance PubMed
    Vpu, p16 vpu HLA class I-associated immune responses have minor effects on Vpu variability, suggesting that Vpu conformation and function are preserved through many possible combinations of primary and secondary polymorphisms PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P30511 P61769 B2M    HPRD  PubMed  
    P30511 P30511 HLA-F    HPRD  PubMed  
    P30511 Q8NHL6 LILRB1    HPRD  PubMed  
    P30511 Q8N423 LILRB2    HPRD  PubMed  
    P30511 Q03518 TAP1    HPRD  PubMed  
    BioGRID:109379 BioGRID:116070 LILRB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109379 BioGRID:115577 LILRB2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109379 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Allograft rejection, organism-specific biosystem (from KEGG)
      Allograft rejection, organism-specific biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Allograft rejection, conserved biosystem (from KEGG)
      Allograft rejection, conserved biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Antigen Presentation: Folding, assembly and peptide loading of class I MHC, organism-specific biosystem (from REACTOME)
      Antigen Presentation: Folding, assembly and peptide loading of class I MHC, organism-specific biosystemUnlike other glycoproteins, correct folding of MHC class I molecules is not sufficient to trigger their exit from the ER, they exit only after peptide loading. Described here is the process of antige...
    • Antigen processing and presentation, organism-specific biosystem (from KEGG)
      Antigen processing and presentation, organism-specific biosystem
      Antigen processing and presentation
    • Antigen processing and presentation, conserved biosystem (from KEGG)
      Antigen processing and presentation, conserved biosystem
      Antigen processing and presentation
    • Antigen processing-Cross presentation, organism-specific biosystem (from REACTOME)
      Antigen processing-Cross presentation, organism-specific biosystemMHC class I molecules generally present peptide antigens derived from proteins synthesized by the cell itself to CD8+ T cells. However, in some circumstances, antigens from extracellular environment ...
    • Autoimmune thyroid disease, organism-specific biosystem (from KEGG)
      Autoimmune thyroid disease, organism-specific biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Autoimmune thyroid disease, conserved biosystem (from KEGG)
      Autoimmune thyroid disease, conserved biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • ER-Phagosome pathway, organism-specific biosystem (from REACTOME)
      ER-Phagosome pathway, organism-specific biosystemThe other TAP-dependent cross-presentation mechanism in phagocytes is the endoplasmic reticulum (ER)-phagosome model. Desjardins proposed that ER is recruited to the cell surface, where it fuses wit...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endosomal/Vacuolar pathway, organism-specific biosystem (from REACTOME)
      Endosomal/Vacuolar pathway, organism-specific biosystemSome antigens are cross-presented through a vacuolar mechanism that involves generation of antigenic peptides and their loading on to MHC-I molecules within the endosomal compartment in a proteasome ...
    • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
      Epstein-Barr virus infection, organism-specific biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • Epstein-Barr virus infection, conserved biosystem (from KEGG)
      Epstein-Barr virus infection, conserved biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • Graft-versus-host disease, organism-specific biosystem (from KEGG)
      Graft-versus-host disease, organism-specific biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • Graft-versus-host disease, conserved biosystem (from KEGG)
      Graft-versus-host disease, conserved biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Herpes simplex infection, organism-specific biosystem (from KEGG)
      Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Herpes simplex infection, conserved biosystem (from KEGG)
      Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
      Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
      Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
    • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
      Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Proteasome Degradation, organism-specific biosystem (from WikiPathways)
      Proteasome Degradation, organism-specific biosystem
      Proteasome Degradation
    • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
      Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Type I diabetes mellitus, conserved biosystem (from KEGG)
      Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Viral carcinogenesis, organism-specific biosystem (from KEGG)
      Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • Viral carcinogenesis, conserved biosystem (from KEGG)
      Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • Viral myocarditis, organism-specific biosystem (from KEGG)
      Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    antigen processing and presentation of exogenous peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
    		  
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
    Traceable Author Statement
    more info
    		  
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
    Traceable Author Statement
    more info
    		  
    antigen processing and presentation of peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
    		  
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    regulation of immune response TAS
    Traceable Author Statement
    more info
    		  
    type I interferon-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    MHC class I protein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    early endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    integral to lumenal side of endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    HLA class I histocompatibility antigen, alpha chain F
    Names
    HLA class I histocompatibility antigen, alpha chain F
    HLA F antigen
    leukocyte antigen F
    HLA class I molecule
    MHC class Ib antigen
    MHC class I antigen F

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012009.1 RefSeqGene

      Range
      5001..8957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001098478.1 → NP_001091948.1  HLA class I histocompatibility antigen, alpha chain F isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame coding exon and uses an alternate 3' exon, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL645939, AY253271, BC062991, BM798587, CA436948
      Consensus CDS
      CCDS43439.1
      UniProtKB/Swiss-Prot
      P30511
      Related
      ENSP00000397376, OTTHUMP00000109210, ENST00000434407, OTTHUMT00000195084
      Conserved Domains (1) summary
      pfam00129
      Location:23 – 200
      Blast Score: 766
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    2. NM_001098479.1 → NP_001091949.1  HLA class I histocompatibility antigen, alpha chain F isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AL645939, BC009260, BM798587, CB528356, CD369507, CT002787
      Consensus CDS
      CCDS43437.1
      UniProtKB/Swiss-Prot
      P30511
      UniProtKB/TrEMBL
      Q5JZ48
      Related
      ENSP00000259951, OTTHUMP00000109211, ENST00000259951, OTTHUMT00000195085
      Conserved Domains (2) summary
      cd07698
      Location:204 – 296
      Blast Score: 368
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:23 – 200
      Blast Score: 786
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    3. NM_018950.2 → NP_061823.2  HLA class I histocompatibility antigen, alpha chain F isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' exon, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL645939, AY253270, BM798587, CA436948, CD365590
      Consensus CDS
      CCDS43438.1
      UniProtKB/Swiss-Prot
      P30511
      Related
      ENSP00000334263, ENST00000334668
      Conserved Domains (2) summary
      cd07698
      Location:204 – 296
      Blast Score: 363
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:23 – 200
      Blast Score: 776
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.2 Reference GRCh37.p10 ALT_REF_LOCI_2

      Range
      1207306..1211258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.1 Reference GRCh37.p10 ALT_REF_LOCI_3

      Range
      991999..995957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.1 Reference GRCh37.p10 ALT_REF_LOCI_4

      Range
      991622..995580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.1 Reference GRCh37.p10 ALT_REF_LOCI_5

      Range
      991651..993881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.1 Reference GRCh37.p10 ALT_REF_LOCI_6

      Range
      991976..995934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.1 Reference GRCh37.p10 ALT_REF_LOCI_7

      Range
      1028897..1032823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      29691117..29695073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      29494781..29498733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      29609133..29613089
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AB011820.1 BAA32747.1
    genomic AB088082.1 BAC54915.1
    genomic AB103588.1 BAF31252.1
    genomic AB201549.1 BAE78596.1
    genomic ABBA01038036.1 (37266..41218) None
    genomic AF055066.1 AAC24827.1
    genomic AF523284.1 AAM74979.1
    genomic AF523285.1 AAM74980.1
    genomic AF523286.1 AAM74981.1
    genomic AF523287.1 AAM74982.1
    genomic AF523288.1 AAM74983.1
    genomic AF523289.1 AAM74984.1
    genomic AF523290.1 AAM74985.1
    genomic AF523291.1 AAM74986.1
    genomic AF523292.1 AAM74987.1
    genomic AF523293.1 AAM74988.1
    genomic AF523294.1 AAM74989.1
    genomic AF523295.1 AAM74990.1
    genomic AF523296.1 AAM74991.1
    genomic AF523297.1 AAM74992.1
    genomic AL022723.4 CAB46623.1
      CAI20359.1
      CAI20360.1
    genomic AL645939.6 (20451..24407) None
    genomic AL669813.6 (51402..55354) None
    genomic AL844851.4 (28633..32591) None
    genomic AMYH01016197.1 (804..4760) None
    genomic AY328516.1 AAP94210.1
    genomic AY645742.1 AAT73225.1
    genomic AY645743.1 AAT73226.1
    genomic AY645744.1 AAT73227.1
    genomic AY645745.1 AAT73228.1
    genomic AY645746.1 AAT73229.1
    genomic AY645747.1 AAT73230.1
    genomic AY645748.1 AAT73231.1
    genomic AY645749.1 AAT73232.1
    genomic AY645750.1 AAT73233.1
    genomic AY645751.1 AAT73234.1
    genomic AY645752.1 AAT73235.1
    genomic AY645753.1 AAT73236.1
    genomic AY645754.1 AAT73237.1
    genomic AY645755.1 AAT73238.1
    genomic AY645756.1 AAT73239.1
    genomic AY645757.1 AAT73240.1
    genomic AY645758.1 AAT73241.1
    genomic AY645759.1 AAT73242.1
    genomic BA000025.2 BAB63337.1
    genomic BX005428.7 (38412..42338) None
    genomic BX927250.5 (70986..74944) None
    genomic CH471081.1 EAX03223.1
      EAX03224.1
      EAX03225.1
      EAX03226.1
      EAX03227.1
    genomic CR753818.5 (10634..14592) None
    genomic CR759790.7 (41403..43633) None
    genomic D78595.1 None
    genomic X17093.1 CAA34947.1
    mRNA AK096962.1 BAG53400.1
    mRNA AK125274.1 BAC86108.1
    mRNA AK225185.1 None
    mRNA AK298704.1 BAG60861.1
    mRNA AK300090.1 BAG61893.1
    mRNA AK301488.1 BAH13496.1
    mRNA AK302420.1 BAG63725.1
    mRNA AK303670.1 BAG64668.1
    mRNA AK309156.1 None
    mRNA AY216682.1 AAO37689.1
    mRNA AY221102.1 AAO34407.1
    mRNA AY253269.1 AAO86773.1
    mRNA AY253270.1 AAO86774.1
    mRNA AY253271.1 AAO86775.1
    mRNA BC009260.2 AAH09260.2
    mRNA BC062991.1 AAH62991.1
    mRNA BM798587.1 None
    mRNA CA436948.1 None
    mRNA CB528356.1 None
    mRNA CD365590.1 None
    mRNA CD369507.1 None
    mRNA CT002787.1 None
    mRNA DQ367723.1 ABD38924.1
    mRNA GQ891552.1 ACX50639.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30511.3 GenPept UniProtKB/Swiss-Prot:P30511

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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