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Q29865

- 1C18_HUMAN

UniProt

Q29865 - 1C18_HUMAN

Protein

HLA class I histocompatibility antigen, Cw-18 alpha chain

Gene

HLA-C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    Involved in the presentation of foreign antigens to the immune system.

    GO - Molecular functioni

    1. peptide antigen binding Source: UniProt

    GO - Biological processi

    1. antigen processing and presentation of exogenous peptide antigen via MHC class I Source: Reactome
    2. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
    3. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent Source: Reactome
    4. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
    5. cytokine-mediated signaling pathway Source: Reactome
    6. interferon-gamma-mediated signaling pathway Source: Reactome
    7. positive regulation of T cell mediated cytotoxicity Source: InterPro
    8. regulation of immune response Source: Reactome
    9. type I interferon signaling pathway Source: Reactome
    10. viral process Source: UniProtKB-KW

    Keywords - Biological processi

    Host-virus interaction, Immunity

    Enzyme and pathway databases

    ReactomeiREACT_111168. Endosomal/Vacuolar pathway.
    REACT_111178. ER-Phagosome pathway.
    REACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
    REACT_25078. Interferon gamma signaling.
    REACT_25162. Interferon alpha/beta signaling.
    REACT_75795. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    HLA class I histocompatibility antigen, Cw-18 alpha chain
    Alternative name(s):
    MHC class I antigen Cw*18
    Gene namesi
    Name:HLA-C
    Synonyms:HLAC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:4933. HLA-C.

    Subcellular locationi

    GO - Cellular componenti

    1. cell surface Source: UniProt
    2. early endosome membrane Source: Reactome
    3. endoplasmic reticulum Source: UniProt
    4. ER to Golgi transport vesicle membrane Source: Reactome
    5. Golgi apparatus Source: UniProt
    6. Golgi membrane Source: Reactome
    7. integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
    8. MHC class I protein complex Source: UniProt
    9. phagocytic vesicle membrane Source: Reactome
    10. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane, MHC I

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Add
    BLAST
    Chaini25 – 366342HLA class I histocompatibility antigen, Cw-18 alpha chainPRO_0000018881Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi110 – 1101N-linked (GlcNAc...)By similarity
    Disulfide bondi125 ↔ 188PROSITE-ProRule annotation
    Disulfide bondi227 ↔ 283PROSITE-ProRule annotation

    Post-translational modificationi

    Polyubiquitinated in a post ER compartment through interaction with human herpesvirus 8 MIR1 protein. This targets the protein for rapid degradation via the ubiquitin system By similarity.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ29865.
    PRIDEiQ29865.

    Expressioni

    Gene expression databases

    CleanExiHS_HLA-C.
    GenevestigatoriQ29865.

    Interactioni

    Subunit structurei

    Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein By similarity.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliQ29865.
    SMRiQ29865. Positions 26-298.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini25 – 308284ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini334 – 36633CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei309 – 33325HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini209 – 29789Ig-like C1-typeAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni25 – 11490Alpha-1Add
    BLAST
    Regioni115 – 20692Alpha-2Add
    BLAST
    Regioni207 – 29892Alpha-3Add
    BLAST
    Regioni299 – 30810Connecting peptide

    Sequence similaritiesi

    Belongs to the MHC class I family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    HOVERGENiHBG016709.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    3.30.500.10. 1 hit.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003006. Ig/MHC_CS.
    IPR003597. Ig_C1-set.
    IPR011161. MHC_I-like_Ag-recog.
    IPR011162. MHC_I/II-like_Ag-recog.
    IPR027648. MHC_I_a.
    IPR001039. MHC_I_a_a1/a2.
    IPR010579. MHC_I_a_C.
    [Graphical view]
    PfamiPF07654. C1-set. 1 hit.
    PF00129. MHC_I. 1 hit.
    PF06623. MHC_I_C. 1 hit.
    [Graphical view]
    PRINTSiPR01638. MHCCLASSI.
    SMARTiSM00407. IGc1. 1 hit.
    [Graphical view]
    SUPFAMiSSF54452. SSF54452. 1 hit.
    PROSITEiPS50835. IG_LIKE. 1 hit.
    PS00290. IG_MHC. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q29865-1 [UniParc]FASTAAdd to Basket

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    MRVMAPRALL LLLSGGLALT ETWACSHSMR YFDTAVSRPG RGEPRFISVG    50
    YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV 100
    NLRKLRGYYN QSEDGSHTLQ RMFGCDLGPD GRLLRGYNQF AYDGKDYIAL 150
    NEDLRSWTAA DTAAQITQRK WEAAREAEQR RAYLEGTCVE WLRRYLENGK 200
    ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQWDGEDQTQ 250
    DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWKP 300
    SSQPTIPIVG IVAGLAVLVV LAVLGAVVAV VMCRRKSSGG KGGSCSQAAS 350
    SNSAQGSDES LIACKA 366
    Length:366
    Mass (Da):40,933
    Last modified:November 1, 1996 - v1
    Checksum:i67CE7E948E4327D8
    GO

    Polymorphismi

    The following alleles of Cw-18 are known: Cw*18:01 (Cw*04GB) and Cw*18:02 (Cw*18GB). The sequence shown is that of Cw*18:01.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101L → I.
    Corresponds to variant rs2308527 [ dbSNP | Ensembl ].
    VAR_059509
    Natural varianti43 – 431E → K.
    Corresponds to variant rs1050438 [ dbSNP | Ensembl ].
    VAR_056517
    Natural varianti48 – 481S → A.
    Corresponds to variant rs707911 [ dbSNP | Ensembl ].
    VAR_061456
    Natural varianti48 – 481S → P.
    Corresponds to variant rs707911 [ dbSNP | Ensembl ].
    VAR_061457
    Natural varianti48 – 481S → T.
    Corresponds to variant rs707911 [ dbSNP | Ensembl ].
    VAR_061458
    Natural varianti73 – 731A → E.
    Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
    VAR_056518
    Natural varianti76 – 761V → M.
    Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
    VAR_056519
    Natural varianti90 – 901K → N.
    Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
    VAR_056520
    Natural varianti97 – 971A → T.
    Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
    VAR_056521
    Natural varianti182 – 1821A → V.
    Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
    VAR_056522
    Natural varianti201 – 2011E → K.
    Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
    VAR_056523
    Natural varianti272 – 2721V → M.
    Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
    VAR_056524
    Natural varianti319 – 3191V → A in allele Cw*18:02.
    VAR_016635

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X96582 mRNA. Translation: CAA65401.1.
    AJ420253 Genomic DNA. Translation: CAD12438.1.
    Z80227 Genomic DNA. Translation: CAB02408.1.
    Y09156 mRNA. Translation: CAA70354.1.

    Genome annotation databases

    EnsembliENST00000420206; ENSP00000410214; ENSG00000228299.

    Polymorphism databases

    DMDMi34304188.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X96582 mRNA. Translation: CAA65401.1 .
    AJ420253 Genomic DNA. Translation: CAD12438.1 .
    Z80227 Genomic DNA. Translation: CAB02408.1 .
    Y09156 mRNA. Translation: CAA70354.1 .

    3D structure databases

    ProteinModelPortali Q29865.
    SMRi Q29865. Positions 26-298.
    ModBasei Search...
    MobiDBi Search...

    Polymorphism databases

    DMDMi 34304188.

    Proteomic databases

    MaxQBi Q29865.
    PRIDEi Q29865.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000420206 ; ENSP00000410214 ; ENSG00000228299 .

    Organism-specific databases

    GeneCardsi GC06M031236.
    GC06Mk31228.
    HGNCi HGNC:4933. HLA-C.
    MIMi 142840. gene.
    neXtProti NX_Q29865.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG016709.

    Enzyme and pathway databases

    Reactomei REACT_111168. Endosomal/Vacuolar pathway.
    REACT_111178. ER-Phagosome pathway.
    REACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
    REACT_25078. Interferon gamma signaling.
    REACT_25162. Interferon alpha/beta signaling.
    REACT_75795. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

    Miscellaneous databases

    ChiTaRSi HLA-C. human.
    NextBioi 35538328.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_HLA-C.
    Genevestigatori Q29865.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    3.30.500.10. 1 hit.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003006. Ig/MHC_CS.
    IPR003597. Ig_C1-set.
    IPR011161. MHC_I-like_Ag-recog.
    IPR011162. MHC_I/II-like_Ag-recog.
    IPR027648. MHC_I_a.
    IPR001039. MHC_I_a_a1/a2.
    IPR010579. MHC_I_a_C.
    [Graphical view ]
    Pfami PF07654. C1-set. 1 hit.
    PF00129. MHC_I. 1 hit.
    PF06623. MHC_I_C. 1 hit.
    [Graphical view ]
    PRINTSi PR01638. MHCCLASSI.
    SMARTi SM00407. IGc1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54452. SSF54452. 1 hit.
    PROSITEi PS50835. IG_LIKE. 1 hit.
    PS00290. IG_MHC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of two new HLA-C alleles: Cw*1801 and Cw*0706."
      Vilches C., Bunce M., Sanz L., de Pablo R., Puente S., Kreisler M.
      Tissue Antigens 48:698-702(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*18:01).
    2. Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*18:01).
    3. "Sequence of four new HLA-Cw alleles: a possible role of interallelic recombination."
      Grundschober C., Labonne M., Javaux F., Steiner Q.G., Gebuhrer L., Tiercy J.-M.
      Tissue Antigens 51:72-79(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*18:01).
    4. "The novel HLA-Cw*1802 allele is associated with B*5703 in the Bubi population from Equatorial Guinea."
      Vilches C., Bunce M., de Pablo R., Moreno M.E., Puente S., Sanz L., Kreisler M.
      Tissue Antigens 49:644-648(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*18:02).

    Entry informationi

    Entry namei1C18_HUMAN
    AccessioniPrimary (citable) accession number: Q29865
    Secondary accession number(s): O78203, P79498
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 22, 2003
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 105 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3