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Q29963

- 1C06_HUMAN

UniProt

Q29963 - 1C06_HUMAN

Protein

HLA class I histocompatibility antigen, Cw-6 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 124 (01 Oct 2014)
      Sequence version 2 (22 Aug 2003)
      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-6 alpha chain
    Alternative name(s):
    MHC class I antigen Cw*6
    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

    Pathology & Biotechi

    Involvement in diseasei

    Psoriasis 1 (PSORS1) [MIM:177900]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi177900. phenotype.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Add
    BLAST
    Chaini25 – 366342HLA class I histocompatibility antigen, Cw-6 alpha chainPRO_0000018873Add
    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 by 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

    MaxQBiQ29963.
    PRIDEiQ29963.

    Expressioni

    Gene expression databases

    CleanExiHS_HLA-C.
    GenevestigatoriQ29963.

    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

    Protein-protein interaction databases

    IntActiQ29963. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ29963.
    SMRiQ29963. 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.

    Q29963-1 [UniParc]FASTAAdd to Basket

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    MRVMAPRTLI LLLSGALALT ETWACSHSMR YFDTAVSRPG RGEPRFISVG    50
    YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV 100
    NLRKLRGYYN QSEDGSHTLQ WMYGCDLGPD GRLLRGYDQS AYDGKDYIAL 150
    NEDLRSWTAA DTAAQITQRK WEAAREAEQW RAYLEGTCVE WLRRYLENGK 200
    ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ 250
    DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWEP 300
    SSQPTIPIVG IVAGLAVLAV LAVLGAVMAV VMCRRKSSGG KGGSCSQAAS 350
    SNSAQGSDES LIACKA 366
    Length:366
    Mass (Da):40,969
    Last modified:August 22, 2003 - v2
    Checksum:i45876CB22256DE80
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti33 – 331D → C in AAA57258. (PubMed:2714852)Curated
    Sequence conflicti202 – 2021T → S in AAA36235. (PubMed:2714853)Curated

    Polymorphismi

    The following alleles of Cw-6 are known: Cw*06:02 Cw*06:03 and Cw*06:04. Allele Cw*062 is a risk factor that confers susceptibility to psoriasis. The sequence shown is that of Cw*06:02.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331D → Y in allele Cw*06:03.
    VAR_016620
    Natural varianti43 – 431E → K.
    Corresponds to variant rs1050438 [ dbSNP | Ensembl ].
    VAR_056474
    Natural varianti48 – 481S → A.
    Corresponds to variant rs707911 [ dbSNP | Ensembl ].
    VAR_061447
    Natural varianti48 – 481S → P.
    Corresponds to variant rs707911 [ dbSNP | Ensembl ].
    VAR_061448
    Natural varianti48 – 481S → T.
    Corresponds to variant rs707911 [ dbSNP | Ensembl ].
    VAR_061449
    Natural varianti73 – 731A → E.
    Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
    VAR_056475
    Natural varianti76 – 761V → M.
    Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
    VAR_056476
    Natural varianti90 – 901K → N.
    Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
    VAR_056477
    Natural varianti97 – 971A → T.
    Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
    VAR_056478
    Natural varianti137 – 1371Y → H.
    Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
    VAR_056479
    Natural varianti180 – 1801W → L in allele Cw*06:04.
    VAR_016621
    Natural varianti182 – 1821A → V.
    Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
    VAR_056480
    Natural varianti201 – 2011E → K.
    Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
    VAR_056481
    Natural varianti272 – 2721V → M.
    Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
    VAR_056482

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M28160 mRNA. Translation: AAA36235.1.
    Z22752, Z22753, Z22754 Genomic DNA. Translation: CAA80437.1.
    M28206 mRNA. Translation: AAA57258.1.
    AF019568, AF019567 Genomic DNA. Translation: AAC17721.1.
    AB008136 Genomic DNA. Translation: BAA22919.1.
    PIRiI68749.
    UniGeneiHs.656020.
    Hs.743218.
    Hs.77961.

    Genome annotation databases

    EnsembliENST00000420206; ENSP00000410214; ENSG00000228299.
    UCSCiuc011gas.2. human.

    Polymorphism databases

    DMDMi34305706.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M28160 mRNA. Translation: AAA36235.1 .
    Z22752 , Z22753 , Z22754 Genomic DNA. Translation: CAA80437.1 .
    M28206 mRNA. Translation: AAA57258.1 .
    AF019568 , AF019567 Genomic DNA. Translation: AAC17721.1 .
    AB008136 Genomic DNA. Translation: BAA22919.1 .
    PIRi I68749.
    UniGenei Hs.656020.
    Hs.743218.
    Hs.77961.

    3D structure databases

    ProteinModelPortali Q29963.
    SMRi Q29963. Positions 26-298.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q29963. 1 interaction.

    Polymorphism databases

    DMDMi 34305706.

    Proteomic databases

    MaxQBi Q29963.
    PRIDEi Q29963.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000420206 ; ENSP00000410214 ; ENSG00000228299 .
    UCSCi uc011gas.2. human.

    Organism-specific databases

    GeneCardsi GC06M031236.
    GC06Mk31228.
    HGNCi HGNC:4933. HLA-C.
    MIMi 142840. gene.
    177900. phenotype.
    neXtProti NX_Q29963.
    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.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_HLA-C.
    Genevestigatori Q29963.

    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. "Isolation and expression of a cDNA clone encoding HLA-CW6: unique characteristics of HLA-C encoded gene products."
      Mizuno S., Kang S.H., Lee H.W., Trapani J.A., Dupont B., Yang S.Y.
      Immunogenetics 29:323-330(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*06:02).
    2. "Isolation and characterization of a genomic HLA-Cw6 clone."
      Steinle A., Noessner E., Schendel D.J.
      Tissue Antigens 39:134-137(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*06:02).
    3. "Allelic variation in HLA-B and HLA-C sequences and the evolution of the HLA-B alleles."
      Pohla H., Kuon W., Tabaczewski P., Doerner C., Weiss E.H.
      Immunogenetics 29:297-307(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 22-366 (ALLELE CW*06:02).
    4. "Sequence-based typing provides a new look at HLA-C diversity."
      Turner S., Ellexson M.E., Hickman H.D., Sidebottom D.A., Fernandez-Vina M., Confer D.L., Hildebrand W.H.
      J. Immunol. 161:1406-1413(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*06:03).
    5. "Diversity of HLA-B17 alleles and haplotypes in East Asians and a novel Cw6 allele (Cw*0604) associated with B*5701."
      Inoue T., Ogawa A., Tokunaga K., Ishikawa Y., Kashiwase K., Tanaka H., Park M.H., Jia G.J., Chimge N.-O., Sideltseva E.W., Akaza T., Tadokoro K., Takahashi T., Juji T.
      Tissue Antigens 53:534-544(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*06:04).
      Tissue: Blood.
    6. Cited for: ASSOCIATION OF ALLELE CW*06:02 WITH PSORIASIS.
    7. "Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR."
      Helms C., Saccone N.L., Cao L., Daw J.A.W., Cao K., Hsu T.M., Taillon-Miller P., Duan S., Gordon D., Pierce B., Ott J., Rice J., Fernandez-Vina M.A., Kwok P.-Y., Menter A., Bowcock A.M.
      Hum. Genet. 118:466-476(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: ASSOCIATION OF ALLELE CW*06:02 WITH PSORIASIS.
    8. Cited for: INVOLVEMENT IN PSORS1.

    Entry informationi

    Entry namei1C06_HUMAN
    AccessioniPrimary (citable) accession number: Q29963
    Secondary accession number(s): O19505, O78063, Q29989
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 22, 2003
    Last sequence update: August 22, 2003
    Last modified: October 1, 2014
    This is version 124 of the entry and version 2 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