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Q95604

- 1C17_HUMAN

UniProt

Q95604 - 1C17_HUMAN

Protein

HLA class I histocompatibility antigen, Cw-17 alpha chain

Gene

HLA-C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      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-17 alpha chain
    Alternative name(s):
    MHC class I antigen Cw*17
    Gene namesi
    Name:HLA-C
    Synonyms:D6S204, HLA-JY3, 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 – 372348HLA class I histocompatibility antigen, Cw-17 alpha chainPRO_0000018880Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi110 – 1101N-linked (GlcNAc...)1 Publication
    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

    MaxQBiQ95604.
    PaxDbiQ95604.
    PRIDEiQ95604.

    Expressioni

    Gene expression databases

    CleanExiHS_HLA-C.
    GenevestigatoriQ95604.

    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

    IntActiQ95604. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ95604.
    SMRiQ95604. Positions 26-298.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini25 – 317293ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini339 – 37234CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei318 – 33821HelicalSequence 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 – 31719Connecting peptideAdd
    BLAST

    Sequence similaritiesi

    Belongs to the MHC class I family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG42056.
    HOVERGENiHBG016709.
    PhylomeDBiQ95604.

    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.

    Q95604-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRVMAPQALL LLLSGALALI ETWAGSHSMR YFYTAVSRPG RGEPRFIAVG    50
    YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV 100
    NLRKLRGYYN QSEAGSHTIQ RMYGCDLGPD GRLLRGYNQF AYDGKDYIAL 150
    NEDLRSWTAA DTAAQISQRK LEAAREAEQL RAYLEGECVE WLRGYLENGK 200
    ETLQRAERPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ 250
    DTELVETRPA GDGTFQKWAA VVVPSGQEQR YTCHVQHEGL QEPCTLRWKP 300
    SSQPTIPNLG IVSGPAVLAV LAVLAVLAVL GAVVAAVIHR RKSSGGKGGS 350
    CSQAASSNSA QGSDESLIAC KA 372
    Length:372
    Mass (Da):41,238
    Last modified:February 1, 1997 - v1
    Checksum:iD5DDCE6361D93AA2
    GO

    Polymorphismi

    Cw*17 appears at low frequencies in Caucasoid and Mongoloid populations (gene frequency 0.41 % in English Caucasoids, 0% in Japanese), but seems to be a common specificity in populations of African origin (PubMed:9098935). The following alleles of Cw-17 are known: Cw*17:01, Cw*17:02 and Cw*17:03. The sequence shown is that of Cw*17:01.1 Publication

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 82QA → RT in allele Cw*17:02.
    VAR_016648
    Natural varianti10 – 101L → I in allele Cw*17:02.
    VAR_016649
    Natural varianti24 – 241A → T in allele Cw*17:03.
    VAR_016650
    Natural varianti73 – 731A → E.
    Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
    VAR_056512
    Natural varianti76 – 761V → M.
    Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
    VAR_056513
    Natural varianti90 – 901K → N.
    Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
    VAR_056514
    Natural varianti97 – 971A → T.
    Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
    VAR_056515
    Natural varianti272 – 2721V → M.
    Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
    VAR_056516

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U62824 mRNA. Translation: AAB67322.1.
    X98742 mRNA. Translation: CAA67294.1.
    Y10520 mRNA. Translation: CAA71531.1.
    AJ420252 Genomic DNA. Translation: CAD12437.1.
    D64149 mRNA. Translation: BAA20857.1.
    Y18537
    , Y18538, Y18539, Y18540, Y18541 Genomic DNA. Translation: CAB71837.1.
    U06835 mRNA. Translation: AAA17674.1.
    PIRiA59028.
    UniGeneiHs.656020.
    Hs.743218.
    Hs.77961.

    Genome annotation databases

    EnsembliENST00000400341; ENSP00000383195; ENSG00000206435.
    ENST00000400394; ENSP00000383244; ENSG00000206452.

    Polymorphism databases

    DMDMi34395506.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U62824 mRNA. Translation: AAB67322.1 .
    X98742 mRNA. Translation: CAA67294.1 .
    Y10520 mRNA. Translation: CAA71531.1 .
    AJ420252 Genomic DNA. Translation: CAD12437.1 .
    D64149 mRNA. Translation: BAA20857.1 .
    Y18537
    , Y18538 , Y18539 , Y18540 , Y18541 Genomic DNA. Translation: CAB71837.1 .
    U06835 mRNA. Translation: AAA17674.1 .
    PIRi A59028.
    UniGenei Hs.656020.
    Hs.743218.
    Hs.77961.

    3D structure databases

    ProteinModelPortali Q95604.
    SMRi Q95604. Positions 26-298.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q95604. 1 interaction.

    Polymorphism databases

    DMDMi 34395506.

    Proteomic databases

    MaxQBi Q95604.
    PaxDbi Q95604.
    PRIDEi Q95604.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000400341 ; ENSP00000383195 ; ENSG00000206435 .
    ENST00000400394 ; ENSP00000383244 ; ENSG00000206452 .

    Organism-specific databases

    GeneCardsi GC06M031236.
    GC06Mn31226.
    GC06Mo31229.
    HGNCi HGNC:4933. HLA-C.
    MIMi 142840. gene.
    neXtProti NX_Q95604.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42056.
    HOVERGENi HBG016709.
    PhylomeDBi Q95604.

    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 Q95604.

    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. "Cw*1701 defines a divergent african HLA-C allelic lineage."
      Wells R.S., Seielstad M.T., Bunce M., Tyan D.B., Bekele E., Parham P.
      Immunogenetics 46:173-180(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*17:01).
    2. "The complete primary structure of Cw*1701 reveals a highly divergent HLA class I molecule."
      Herrero M.J., Vilches C., de Pablo R., Puente S., Kreisler M.
      Tissue Antigens 49:267-270(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*17:01).
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*17:01).
    4. "HLA-C locus polymorphisms in Japanese."
      Wang H., Tokunaga K.
      Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-289 (ALLELE CW*17:02).
      Tissue: Peripheral blood.
    5. "There is more to HLA -C than exons 2 and 3: sequencing exons 1, 4 and 5."
      van der Vlies S.A., Voorter C.E., van den Berg-Loonen E.M.
      Tissue Antigens 54:169-177(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-338 (ALLELE CW*17:03).
    6. "Nucleotide sequence analysis of HLA-Cw blank alleles from seven B cell lines."
      Yang S., Cereb N.
      Submitted (APR-1994) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 26-298 (ALLELE CW*17:01).
      Tissue: Blood.
    7. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-110.
      Tissue: Liver.

    Entry informationi

    Entry namei1C17_HUMAN
    AccessioniPrimary (citable) accession number: Q95604
    Secondary accession number(s): O02864
    , O02958, Q29643, Q9MY30
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 29, 2003
    Last sequence update: February 1, 1997
    Last modified: October 1, 2014
    This is version 114 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