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

    Gene ID: 3107, updated on 3-Nov-2024

    Summary

    Official Symbol
    HLA-Cprovided by HGNC
    Official Full Name
    major histocompatibility complex, class I, Cprovided by HGNC
    Primary source
    HGNC:HGNC:4933
    See related
    Ensembl:ENSG00000204525 MIM:142840; AllianceGenome:HGNC:4933
    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
    MHC; HLAC; HLC-C; D6S204; PSORS1; HLA-JY3
    Summary
    HLA-C 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 endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, 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. About 6000 HLA-C 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
    Broad expression in lung (RPKM 536.7), bone marrow (RPKM 302.4) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HLA-C in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31268749..31272092, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31134915..31138292, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31236526..31239869, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene POU5F1 5' regulatory region Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31142488-31143384 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31145628-31146222 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31146755-31147256 Neighboring gene psoriasis susceptibility 1 candidate 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31148363-31148906 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31153427-31154016 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31154017-31154604 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31158168-31158669 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31163380-31164262 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31166400-31167283 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31167284-31168166 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31169734-31170274 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31170275-31170813 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31170972-31171692 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31171693-31172412 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31172413-31173132 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31173133-31173851 Neighboring gene HLA complex group 27 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31178749-31179743 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:31180245-31180430 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31183567-31184468 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31190777-31191278 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31192075-31192697 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31192791-31193386 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31196240-31196741 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31197314-31197823 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31203152-31203653 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31207427-31207928 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:31212376-31213125 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31213660-31214161 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31217950-31218451 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31220759-31221378 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31221379-31221998 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31222367-31223043 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31227633-31228239 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31228743-31229244 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31234264-31235207 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31235343-31235902 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31236021-31236522 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31237308-31237809 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31246711-31247212 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31247287-31248172 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31248173-31249056 Neighboring gene USP8 pseudogene 1 Neighboring gene ribosomal protein L3 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Psoriasis 1, susceptibility to
    MedGen: C1867449 OMIM: 177900 GeneReviews: Not available
    Compare labs
    Susceptibility to HIV infection
    MedGen: C1836230 OMIM: 609423 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    EBI GWAS Catalog
    A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.
    EBI GWAS Catalog
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    EBI GWAS Catalog
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    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 psoriasis and psoriatic arthritis identifies new disease loci.
    EBI GWAS Catalog
    A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
    EBI GWAS Catalog
    Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls.
    EBI GWAS Catalog
    Common genetic variation and the control of HIV-1 in humans.
    EBI GWAS Catalog
    Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
    EBI GWAS Catalog
    Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.
    EBI GWAS Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.
    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 for vitiligo identifies susceptibility loci at 6q27 and the MHC.
    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 identifies a psoriasis susceptibility locus at TRAF3IP2.
    EBI GWAS Catalog
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
    EBI GWAS Catalog
    Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog
    New loci associated with chronic hepatitis B virus infection in Han Chinese.
    EBI GWAS Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    EBI GWAS Catalog
    The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
    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

    Protein interactions

    Protein Gene Interaction Pubs
    Asp 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 The presence of HLA-C and HLA-E molecules on HIV-infected cells facilitates evasion of NK-mediated killing of anti-gp120-coated HIV-infected cells PubMed
    env HLA-C positive cells co-expressing HIV-1 gp120/gp41 fuse more rapidly and produce larger syncytia than HLA-C negative cells 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
    env A highly conserved region of HIV-1 gp120 (amino acids 376 to 383) is recognized by an HLA-C molecule, Cw4 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
    Envelope transmembrane glycoprotein gp41 env HLA-C positive cells co-expressing HIV-1 gp120/gp41 fuse more rapidly and produce larger syncytia than HLA-C negative 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 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 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 Nef downregulates HLA-A/B/C, which moderately requires the CPG-motif in Nef 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 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 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 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 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-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 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 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 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 MHC-I is found in the Rab7(+) vesicles and is targeted for degradation via the activity of the Nef-interacting protein, beta-COP 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
    Pr55(Gag) 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 HIV-1 Gag peptides (Gag144-152, Gag163-171 and Gag295-304) enhance binding of KIR2DL2 to HLA-C03:04 and result in inhibition of KIR2DL2+ primary NK cells 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 HLA-C/HIV-1 Gag209-218 peptide complexes bind KIR2DL2, which results in functional inhibition of primary NK cells PubMed
    gag Specific HIV-1 residues in Vpr, Gag, and Rev and HLA alleles (particularly B and C) confer susceptibility to the CTL response in HIV-1 infected patients PubMed
    gag Targeting HIV-1 Gag into the defective ribosomal product pathway enhances MHC class I antigen presentation and CD8+ T cell activation PubMed
    Rev rev Specific HIV-1 residues in Vpr, Gag, and Rev and HLA alleles (particularly B and C) confer susceptibility to the CTL response in HIV-1 infected patients 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 Specific HIV-1 residues in Vpr, Gag, and Rev and HLA alleles (particularly B and C) confer susceptibility to the CTL response in HIV-1 infected patients 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

    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

    • FLJ27082

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables TAP binding IDA
    Inferred from Direct Assay
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    HLA class I histocompatibility antigen, C alpha chain
    Names
    HLA-C antigen
    MHC class I antigen heavy chain HLA-C
    human leukocyte antigen-C alpha chain
    major histocompatibility antigen HLA-C

    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_029422.3 RefSeqGene

      Range
      5000..8343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243042.1NP_001229971.1  HLA class I histocompatibility antigen, C alpha chain precursor

      See identical proteins and their annotated locations for NP_001229971.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the C*07:01:01:01 allele of the HLA-C gene, as represented in the alternate locus group ALT_REF_LOCI_2 of the reference genome.
      Source sequence(s)
      AL662833
      UniProtKB/TrEMBL
      A0A090KFT5, A0A090KMD8, A0A0C7U0X1, A0A0D6K9L4, A0A0K8K5V0, A0A0S4T4A3, A0A160YIT6, A0A1C3PHS8, A0A1V0EFG8, A0A1V0EFI7, A0A223PY87, A0A286MC73, A0A2K4N7V7, A0A2U8RNM0, A0A383S213, A0A383S3X9, A0A3S6RFX5, A0A3S6RG45, A0A455JVL9, A0A4P2SSY5, A0A5H2UZ96, A0A6B7IGK1, A0A7S5L7T9, A0A858LJL2, A0A858LKD1, A6Q0R3, O19617
      Conserved Domains (3) summary
      pfam00129
      Location:26203
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:347361
      MHC_I_C; MHC_I C-terminus
      cd07698
      Location:207298
      IgC1_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain, alpha3 immunoglobulin domain; member of the C1-set of Ig superfamily (IgSF) domains
    2. NM_002117.6NP_002108.4  HLA class I histocompatibility antigen, C alpha chain precursor

      See identical proteins and their annotated locations for NP_002108.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the C*07:02:01 allele of the HLA-C gene, as represented in the assembled chromosome 6 in the primary assembly of the reference genome.
      Source sequence(s)
      AL671883, BC007814
      Consensus CDS
      CCDS34393.1
      UniProtKB/Swiss-Prot
      O02863, O02864, O02865, O02866, O02958, O19505, O19652, O19676, O62879, O62882, O62883, O62888, O78060, O78061, O78062, O78063, O78067, O78068, O78069, O78072, O78083, O78090, O78091, O78149, O78165, O78166, O78178, O78202, O78203, O78211, O78214, P04222, P10321, P30499, P30500, P30501, P30502, P30503, P30504, P30505, P30506, P30507, P30508, P30509, P30510, P79498, Q07000, Q29631, Q29641, Q29643, Q29652, Q29743, Q29768, Q29862, Q29864, Q29865, Q29867, Q29921, Q29959, Q29960, Q29963, Q29986, Q29989, Q29990, Q29991, Q29992, Q29993, Q30192, Q31605, Q31627, Q860R1, Q860R2, Q95463, Q95603, Q95604, Q99528, Q9BD28, Q9GIK4, Q9GIK8, Q9GJ33, Q9MY30, Q9MY31, Q9MY35, Q9MY49, Q9MY74, Q9MYI3, Q9TNN7, Q9TNZ8, Q9TPS4, Q9TPV8, Q9TPX2, Q9TQB4, Q9TQJ5, Q9TQP9, Q9UM32, Q9UM33, Q9UM42, Q9UQS9
      UniProtKB/TrEMBL
      A0A0S4T485, A0A160YHC2, A0A1W1RN42, A0A2H4UK11, A0A2K4XGI6, A0A2L1DGK1, A0A2P9G7W2, A0A345F0V6, A0A383S294, A0A3S6RG40, A0A493QP77, A0A5H2UJ21, A0A678ZID0, A0A6B7FVF4, A0A6B7IJW7, A0A6M8DQ94, A0A7L7TV11, A0A7R8C2A6, A4Q9R6, B0JF23, B5BLP2, C1K0X7, F5CL10, Q5C9P9, Q6R739
      Related
      ENSP00000365402.5, ENST00000376228.10
      Conserved Domains (3) summary
      pfam00129
      Location:26203
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:347361
      MHC_I_C; MHC_I C-terminus
      cd07698
      Location:207298
      IgC1_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain, alpha3 immunoglobulin domain; 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
      31268749..31272092 complement
      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
      2749675..2753062 complement
      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
      2526549..2529880 complement
      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
      2577801..2581132 complement
      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
      2611478..2614809 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2524181..2527512 complement
      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
      2570707..2574038 complement
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    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31134915..31138292 complement
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      GenBank, FASTA, Sequence Viewer (Graphics)