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

    Gene ID: 3105, updated on 3-Dec-2024

    Summary

    Official Symbol
    HLA-Aprovided by HGNC
    Official Full Name
    major histocompatibility complex, class I, Aprovided by HGNC
    Primary source
    HGNC:HGNC:4931
    See related
    Ensembl:ENSG00000206503 MIM:142800; AllianceGenome:HGNC:4931
    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
    HLAA
    Summary
    HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in colon (RPKM 288.9), lung (RPKM 280.7) and 25 other tissues See more
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    Genomic context

    See HLA-A in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (29942532..29945870)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (29806459..29809798)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (29910309..29913647)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901298 Neighboring gene major histocompatibility complex, class I, U (pseudogene) Neighboring gene HLA complex group 4 pseudogene 5 Neighboring gene HLA complex group 4 pseudogene 4 Neighboring gene major histocompatibility complex, class I, W (pseudogene)

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Carbamazepine response
    MedGen: CN077964 GeneReviews: Not available
    Compare labs
    Susceptibility to severe cutaneous adverse reaction
    MedGen: C1840548 OMIM: 608579 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.
    EBI GWAS Catalog
    A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
    EBI GWAS Catalog
    A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
    EBI GWAS Catalog
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Common genetic variation and the control of HIV-1 in humans.
    EBI GWAS Catalog
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    EBI GWAS Catalog
    Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
    EBI GWAS Catalog
    Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.
    EBI GWAS Catalog
    HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.
    EBI GWAS Catalog
    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Capsid expressing (p24+) cells from pleural fluid of HIV-1/TB coinfected patients or in vitro infected PBMC (NL4-3 or NLAD8) downregulate HLA-A/B/C and BST2 (Tetherin) concomitantly with CD4 downregulation PubMed
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of HLA-A PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Asp asp Two ASP peptide sequences, ASP-YL9 (89YLYNSLLQL97) and ASP-TL10 (79TPNGSIFTTL88), show high binding affinity to HLA-A*02 and HLA-B*07 molecules, respectively PubMed
    asp Antisense reading frame-derived cryptic epitopes from the gag, pol, and nef genes are inhibited by the predicted HLA-I alleles, and presented by HIV-1-infected CD8+ T-cells PubMed
    asp Antisense reading frame-derived cryptic epitopes from the env gene are inhibited by the HLA-I alleles in CD8+ T-cells PubMed
    Envelope surface glycoprotein gp120 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
    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
    Envelope surface glycoprotein gp160, precursor 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
    env Epitope Env37-46 from HIV-1 gp160 binds strongly to HLA-A3 molecules and forms very stable complexes PubMed
    Envelope transmembrane glycoprotein gp41 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 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 HIV-1 gp41 selectively enhances MHC class I, ICAM-1, IFN-alpha, IFN-beta, and IFN-omega expression in H9 cells PubMed
    Nef nef HIV-1 (SF2) Nef downregulates MHC-I (HLA-A/B/C); downregulation is dependent upon a proline-rich SH3 binding domain in Nef PubMed
    nef HIV-1 NL4-3 and SK68 Nef downregulates HLA-A (HLA-A*02), which is dependent upon amino acids M20 and S88 PubMed
    nef HIV-1 NL4-3 and subtype B Nef downregulates HLA-A more than HLA-B, which discerned by amino acid 202 in Nef PubMed
    nef HIV-1 NL4-3 Nef downregulates HLA-A/B/C, which moderately requires the CPG-motif in Nef PubMed
    nef A methionine residue at amino acid 20 in the alpha-helix domain of HIV-1 Nef is required for the ability of Nef to downregulate MHC-I expression but not for the downregulation of CD4 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 HIV-1 Nef interacts with HLA-A (MHC1) and this interaction occurs partially within RAB5+ early endosomes PubMed
    nef HIV-1 Nef downregulates cell (CEMT4) surface expression of HLA-A PubMed
    nef Expression of HIV-1 Nef in human T cells inhibits HLA-A2 transport to the cell surface PubMed
    nef In promonocytic cells, Nef/Hck recruits the ZAP-70 homolog Syk to downregulate MHC-I PubMed
    nef Nef/Hck complex recruits and phosphorylates the tyrosine kinase ZAP-70, which binds class I PI3K to trigger MHC-I downregulation in primary CD4+ T cells 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 Dominant active ARF1 (Q71L) potently stabilizes interactions among AP-1 mu1, HIV-1 Nef, and HLA-A2 and that the formation of a static complex sequesters necessary trafficking components PubMed
    nef Knocking down either AP-1 gamma, AP-1 mu1, or clathrin strongly inhibits Nef-induced downregulation of HLA-A2 PubMed
    nef beta-COP as a cellular cofactor is required for HIV-1 Nef-mediated HLA-A2, CD4, and CD8 downregulation PubMed
    nef HIV-1 Nef clones from acute controllers display a lesser ability to downregulate CD4 and HLA class I from the cell surface, and a reduced ability to enhance virion infectivity compared to those from acute progressors PubMed
    nef HIV-1 Nef clones obtained from chronic patients infected with HIV-1 subtypes A, B, C or D show a functional hierarchy of subtype B > A/D > C for Nef-mediated HLA class I downregulation PubMed
    nef HLA supertypes such as HLA B*07, HLA B*58, HLA A*02 and HLA A*03 are most successful in restricting the amino acid positions of epitope dense regions of HIV-1 Nef, CA, and MA with low entropy and hydrophobic property PubMed
    nef Protective HLA alleles have a true preference for HIV-1 Gag protein, while non-protective HLA alleles preferentially interact with HIV-1 Nef PubMed
    nef HIV-1 Nef clones, isolated from plasma of elite controllers (EC) and chronic progressors (CP), show significantly lower HLA class I downregulation activity in EC than that in CP 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 during MHC I downregulation 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 selectively downregulates HLA-A and HLA-B but does not significantly affect HLA-C or HLA-E, which allows HIV-infected cells to avoid NK cell-mediated lysis; this effect is likely mediated by the HIV-1 Nef protein PubMed
    nef The N-terminal alpha helix (17-26), polyproline (72-78), acidic (62-65), and oligomerization (123) domains of HIV-1 Nef are required for Nef-mediated disruption of the transport of HLA-A2 to the cell surface and for Nef to coprecipitate with HLA-A2 PubMed
    nef The ability of HIV-1 Nef to disrupt MHC-I trafficking and inhibit antigen presentation is regulated by the expression of the mu1 subunit of adaptor protein (AP) AP-1A, a cellular protein complex implicated in TGN to endolysosomal pathways PubMed
    nef Different levels of MHC-I modulation are induced by different HIV-1 Nef proteins derived from HIV-1 infected adults and children PubMed
    nef The HIV-1 Nef highly conserved valine-glycine-phenylalanine amino acid triplet (VGF) motif, which links the acidic cluster and the proline-rich motif, is important for downregulation of CXCR4 and MHC-I PubMed
    nef HLA-A2 molecules with HLA-A cytoplasmic domains are more downregulated by HIV-1 Nef than those with HLA-B domains. There is no downregulation of HLA-A2 with HLA-C cytoplasmic domains by Nef PubMed
    nef Asp327 and Tyr320 of MHC-I, Asp123 of Nef, and Arg225, Arg393, Lys396, Arg211, and Arg246 of mu 1 are involved in a crucial three-way electrostatic network, which results in the Nef-MHC-I CD-mu 1 complex formation PubMed
    nef HIV-1 Nef with A84D, Y135F, and G140R mutation impairs to its ability to downregulate MHC-I PubMed
    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 acidic (Glu62-65) and polyproline domains (Pro75/78) stabilize the interaction between the HLA-A2/Nef fusion protein and AP-1 mu1 PubMed
    nef Mutating three amino acids (Y320, A324, and D327) in the cytoplasmic tail of HLA-A2 abrogates Nef-induced downregulation of HLA-A2 through a failuer to recruit the mu1 or gamma subunits of AP-1 PubMed
    nef Knocking down AP-2 enhances Nef activity by causing increased delivery of HLA-A2 to a prelysosomal compartment PubMed
    nef MHC-I is found in the Rab7(+) vesicles and targeted for degradation via the activity of the Nef-interacting protein, beta-COP PubMed
    nef HIV-1 Nef sequesters HLA-I A2 and colocalizes with CD63 and LAMP1 markers in late endosomes and lysosomes PubMed
    nef ARF6(T27N/Q67L) and RAB11(Q67L) mutants induce significant reversal of HLA-I A2 downregulation by HIV-1 Nef through redistributing HLA-I A2 from the perinuclear vesicles to the peripheral punctate vesicles at the plasma membrane 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 Two distinct regions of HIV-1 Nef modulate MHC-I cell surface expression: an N-terminal alpha-helix (residues 17-26) and a proline-rich motif (residues 75-78) PubMed
    nef The HIV-1 Nef 73-82 epitope binds strongly to HLA-A3 molecules and forms very stable complexes PubMed
    nef Mutation of amino acid P78 in HIV-1 Nef affects downregulation of MHC-I molecules from the cell surface, but does not interfere with Nef binding to Src homology 3 (SH3) domains PubMed
    nef HIV-1 Nef induces drastic and moderate downregulation of CD4 and MHC-I in resting CD4(+) T lymphocytes, respectively, but markedly upregulates cell surface levels of the MHC-II invariant chain CD74 PubMed
    nef HIV-1 Nef has been observed to downregulate HLA-A2 on immature dendritic cells from two donors PubMed
    nef HIV-1 Nef-mediated downregulation of HLA class I suppresses the cytolytic activity of HIV-1-specific cytotoxic T-lymphocyte (CTL) clones PubMed
    nef Macrophage-tropic HIV-1 Nef downregulates expression of HLA-A2 on the surface of productively infected macrophages; point mutations in Nef at prolines P74 or P80 abrogate the downregulation of HLA-A2 PubMed
    nef HIV-1 Nef downregulates MHC-I in Jurkat cells in a concentration-dependent manner PubMed
    nef HIV-1 Nef downregulates human MHC-I more efficiently than murine MHC-I molecules in HeLa cells, and Nef does not function efficiently in murine endothelial cells PubMed
    nef HIV-1 Nef alleles derived from perinatally infected children efficiently downregulate both CD4 and MHC-I in HeLa-CD4+ cells PubMed
    nef HIV-1 group N and group O Nef alleles only weakly downregulate CD4, CD28, and class I and II MHC molecules PubMed
    nef HIV-1 Nef disrupts antigen presentation by binding to MHC-I (HLA-A2) hypophosphorylated cytoplasmic tails in the endoplasmic reticulum; this Nef-MHC-I complex migrates normally into the Golgi apparatus but subsequently fails to arrive at the cell surface PubMed
    nef PxxP motifs in HIV-1 Nef induce the accumulation of CCR5 in a perinuclear compartment where both molecules co-localize with MHC-1 PubMed
    nef The HIV-1 Nef mutant NefAAAA, which cannot interact with the endosomal sorting protein PACS-1, increases the number of cells containing long and stable tubules, which allows the internalization of MHC-1 into the tubules from the cell surface PubMed
    nef Downregulation of MHC-I by HIV-1 Nef decreases the incorporation of MHC-I molecules into virions, but does not decrease virion infectivity PubMed
    nef Downregulation of major histocompatibility class I on human dendritic cells by HIV-1 Nef impairs antigen presentation to HIV-specific CD8+ T lymphocytes PubMed
    nef A dominant-negative mutant protein derived from Hck, (composed of the N-terminal region, SH2, and SH3 domains) interacts with HIV-1 Nef and inhibits Nef-induced downregulation of MHC class I 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
    Pol gag-pol The HIV-1 Pol 325-333 epitope binds strongly to HLA-A3 molecules and forms very stable complexes PubMed
    Pr55(Gag) gag HIV-1 p6 Gag mutation affects HLA-A antigen presentation; p6 mutation of Glu residues to Alas impairs Gag processing & virus release and enhances Gag-membrane association with increased polyubiquitation & entry of Gag into the MHC-1 presentation pathway PubMed
    gag Protective HLA alleles have a true preference for HIV-1 Gag protein, while non-protective HLA alleles preferentially interact with HIV-1 Nef PubMed
    gag The S40F mutation in HIV-1 p6 enhances MHC-I antigen presentation of Gag PubMed
    gag HIV-1 Gag virus-like particles efficiently activate human monocyte-derived dendritic cells (MDDC) and induce MDDC maturation with an associated increase in the surface expression of CD80, CD86 and MHC classes I and II PubMed
    gag The PTAP L-domains in the p6 domain of HIV-1 Gag regulates ubiquitination of Gag which controls MHC-I presentation and gag processing in the DRiP pathway. PubMed
    gag The degree of HIV-1 Nef-mediated HLA-A2 downregulation strongly influences recognition of virus-infected cells by the Gag-specific CD8+ cytotoxic T lymphocyte clone PubMed
    gag Targeting HIV-1 Gag into the defective ribosomal product pathway enhances MHC class I antigen presentation and CD8+ T cell activation PubMed
    gag The HIV-1 Gag 20-28 epitope binds strongly to HLA-A3 molecules and forms very stable complexes PubMed
    Tat tat Four mutations (C27S, K51T, R55L, and G79A) on HIV-1 Tat result in the loss of the deleterious effects of Tat on the expression of MHC I, IL-2, and CD25 genes compared with wild-type Tat in Jurkat cells PubMed
    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
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of HLA-A (A-68 alpha chain) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    Vpu vpu Using antibodies specific to MHC class I A, B, and C molecules (clone W6/32), HIV-1 Vpu protein has been shown to downregulate the expression of MHC class I molecules on the surface of HIV-1 infected cells PubMed
    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
    capsid gag HLA supertypes such as HLA B*07, HLA B*58, HLA A*02 and HLA A*03 are most successful in restricting the amino acid positions of epitope dense regions of HIV-1 Nef, CA, and MA with low entropy and hydrophobic property PubMed
    matrix gag HLA supertypes such as HLA B*07, HLA B*58, HLA A*02 and HLA A*03 are most successful in restricting the amino acid positions of epitope dense regions of HIV-1 Nef, CA, and MA with low entropy and hydrophobic property PubMed
    p6 gag The S40F mutation in HIV-1 p6 enhances MHC-I antigen presentation of Gag PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ26655

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CD8 receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables T cell receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables TAP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables TAP complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables beta-2-microglobulin binding IC
    Inferred by Curator
    more info
    PubMed 
    enables beta-2-microglobulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables beta-2-microglobulin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables peptide antigen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptide antigen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptide antigen binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in CD8-positive, alpha-beta T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in T cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in T cell mediated cytotoxicity directed against tumor cell target IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antibacterial humoral response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class Ib IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in antigen processing and presentation of exogenous peptide antigen via MHC class I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptide antigen assembly with MHC class I protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of CD8-positive, alpha-beta T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of CD8-positive, alpha-beta T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of T cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of memory T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of type II interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in protection from natural killer cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protection from natural killer cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi medial cisterna IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    part_of MHC class I peptide loading complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of MHC class I protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum exit site IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lumenal side of endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in recycling endosome membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    HLA class I histocompatibility antigen, A alpha chain
    Names
    HLA class I histocompatibility antigen, A-1 alpha chain
    MHC class I antigen HLA-A heavy chain
    leukocyte antigen class I-A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029217.3 RefSeqGene

      Range
      5002..8340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242758.1NP_001229687.1  HLA class I histocompatibility antigen, A alpha chain isoform A*01:01:01:01 precursor

      See identical proteins and their annotated locations for NP_001229687.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the A*01:01:01:01 allele of the HLA-A gene, as found in the alternate locus group ALT_REF_LOCI_2 of the reference genome and in the RefSeqGene NG_029217.
      Source sequence(s)
      AL645935
      UniProtKB/TrEMBL
      A0A0S2IIT2, A0A0S4XR33, A0A0U5PXL2, A0A0U5PXM5, A0A1G4HPU6, A0A1V0EFF3, A0A1V0EFG6, A0A1W1B5T2, A0A2H4UK40, A0A2S1B6V5, A0A2U3QLL2, A0A493QP44, A0A4P2SR70, A0A5A4LLE3, A0A5A4LTS8, A0A5H2UF95, A0A5H2UIF3, A0A6B7HGN3, A0A6B7HGQ4, A0A6B9KNP2, A0A7L4X795, A0A7R9PSZ4, A0A7S9C280, A0A858LGC0, C5IWX4, Q5SUL5
      Conserved Domains (3) summary
      pfam00129
      Location:25203
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:337362
      MHC_I_C; MHC_I C-terminus
      cd21026
      Location:204299
      IgC1_MHC_Ia_HLA-B; Class Ia major histocompatibility complex (MHC) immunoglobulin domain of human leukocyte antigen (HLA) B and similar proteins; member of the C1-set of Ig superfamily (IgSF) domains
    2. NM_002116.8NP_002107.3  HLA class I histocompatibility antigen, A alpha chain isoform A*03:01:01:01 precursor

      See identical proteins and their annotated locations for NP_002107.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the A*03:01:0:01 allele of the HLA-A gene, as found in the primary assembly of the reference genome.
      Source sequence(s)
      AK313119, BE875389, U32184
      Consensus CDS
      CCDS34373.1
      UniProtKB/Swiss-Prot
      B1PKZ3, O02939, O02954, O02955, O02963, O19509, O19546, O19598, O19605, O19606, O19619, O19647, O19673, O19687, O19695, O19756, O19794, O19795, O43906, O43907, O46874, O62921, O62924, O77937, O77938, O77964, O78073, O78171, O98009, O98010, O98011, O98137, P01891, P01892, P04439, P05534, P06338, P10313, P10314, P10315, P10316, P13746, P16188, P16189, P16190, P18462, P30443, P30444, P30445, P30446, P30447, P30448, P30449, P30450, P30451, P30452, P30453, P30454, P30455, P30456, P30457, P30458, P30459, P30512, P30514, P79505, P79562, P79563, Q09160, Q29680, Q29747, Q29835, Q29837, Q29838, Q29899, Q29908, Q29909, Q29910, Q30208, Q31623, Q5S3G1, Q65A82, Q8MHM1, Q8MHN9, Q95352, Q95355, Q95362, Q95377, Q95380, Q95IZ5, Q9BCN0, Q9BD15, Q9BD19, Q9GJE6, Q9GJE7, Q9GJE8, Q9MW42, Q9MY89, Q9MYA3, Q9MYA5, Q9MYC4, Q9MYE6, Q9MYE9, Q9MYG4, Q9MYG5, Q9MYI5, Q9TP25, Q9TPQ3, Q9TPR8, Q9TPX8, Q9TPX9, Q9TPY0, Q9TQ24, Q9TQE8, Q9TQE9, Q9TQF1, Q9TQF5, Q9TQF8, Q9TQF9, Q9TQG0, Q9TQG5, Q9TQG7, Q9TQH5, Q9TQI3, Q9TQK5, Q9TQM6, Q9TQN5, Q9TQP5, Q9TQP6, Q9TQP7, Q9UIN1, Q9UIN2, Q9UIP7, Q9UQU3, Q9UQU6, Q9UQU7
      UniProtKB/TrEMBL
      A0A0S4XQY1, A0A0S4XRI5, A0A345F0V2, A0A346MPT9, A0A3G4R8Q7, A0A3S6RF59, A0A3S6RFA8, A0A3S6RFH9, A0A3S6RHP3, A0A4V0NP52, A0A5A4LJA0, A0A678ZN67, A0A678ZZD8, A0A678ZZE9, A0A6B7FU34, A0A6C1HWE5, A0A6C1HWN0, A0A7L4X7E9, A0A7R8ND24, A0A7U3K2B1, A0A858B925, A0A858LHP8, A0A8E4J527, B1PKY1, B2R7U3, I0J2M4
      Related
      ENSP00000366005.5, ENST00000376809.10
      Conserved Domains (3) summary
      pfam00129
      Location:25203
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:337362
      MHC_I_C; MHC_I C-terminus
      cd21026
      Location:204299
      IgC1_MHC_Ia_HLA-B; Class Ia major histocompatibility complex (MHC) immunoglobulin domain of human leukocyte antigen (HLA) B and similar proteins; member of the C1-set of Ig superfamily (IgSF) domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      29942532..29945870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1200217..1203632
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1421892..1425307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1198085..1201438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1197074..1200428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1286642..1289974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_041680767.1XP_041536701.1  HLA class I histocompatibility antigen, A alpha chain isoform X1

      UniProtKB/TrEMBL
      A0A140T9I0, A0A7L4X7A9, O78126, Q53Z42
      Conserved Domains (3) summary
      pfam00129
      Location:22200
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:334359
      MHC_I_C; MHC_I C-terminus
      cd21027
      Location:201295
      IgC1_MHC_Ia_HLA-A; Class Ia major histocompatibility complex (MHC) immunoglobulin domain of human leukocyte antigen (HLA) A; member of the C1-set of Ig superfamily (IgSF) domains
    2. XM_041680768.2XP_041536702.1  HLA class I histocompatibility antigen, A alpha chain isoform X2

      UniProtKB/TrEMBL
      A0A9L9PYF9
      Conserved Domains (1) summary
      smart00407
      Location:219290
      IGc1; Immunoglobulin C-Type

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1197429..1200858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1240346..1243700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      29806459..29809798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)