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Q29960

- 1C16_HUMAN

UniProt

Q29960 - 1C16_HUMAN

Protein

HLA class I histocompatibility antigen, Cw-16 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 114 (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.By similarity

    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-16 alpha chain
    Alternative name(s):
    MHC class I antigen Cw*16
    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. extracellular region Source: UniProtKB-SubCell
    6. Golgi apparatus Source: UniProt
    7. Golgi membrane Source: Reactome
    8. integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
    9. MHC class I protein complex Source: UniProt
    10. phagocytic vesicle membrane Source: Reactome
    11. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane, MHC I, Secreted

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Add
    BLAST
    Chaini25 – 366342HLA class I histocompatibility antigen, Cw-16 alpha chainPRO_0000018879Add
    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

    PRIDEiQ29960.

    Expressioni

    Gene expression databases

    CleanExiHS_HLA-C.
    GenevestigatoriQ29960.

    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

    IntActiQ29960. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ29960.
    SMRiQ29960. Positions 26-302.
    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]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q29960-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MRVMAPRTLI LLLSGALALT ETWACSHSMR YFYTAVSRPG RGEPRFIAVG    50
    YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQTDRV 100
    SLRNLRGYYN QSEAGSHTLQ WMYGCDLGPD GRLLRGYDQS AYDGKDYIAL 150
    NEHLRSCTAA DTAAQITQRK WEAARAAEQQ RAYLEGTCVE WLRRYLENGK 200
    ETLQRAEHPK THVTHHLVSD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ 250
    DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWEP 300
    SSQPTIPIVG IVAGLAVLAV LAVLGAVVAV VMCRRKSSGG KGGSCSQAAS 350
    SNSAQGSDES LIACKA 366
    Length:366
    Mass (Da):40,753
    Last modified:November 1, 1996 - v1
    Checksum:i5F8001BB016F1610
    GO
    Isoform 2 (identifier: Q29960-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         299-338: Missing.

    Show »
    Length:326
    Mass (Da):36,798
    Checksum:i36D4589A9670C0B5
    GO

    Polymorphismi

    The following alleles of Cw-16 are known: Cw*16:01, Cw*16:02 (CW*CL10V) and Cw*16:04. The sequence shown is that of Cw*16:01.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti73 – 731A → E.
    Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
    VAR_056505
    Natural varianti76 – 761V → M.
    Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
    VAR_056506
    Natural varianti90 – 901K → N.
    Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
    VAR_056507
    Natural varianti101 – 1011S → N in allele Cw*16:02.
    VAR_016630
    Natural varianti104 – 1041N → K in allele Cw*16:02.
    VAR_016631
    Natural varianti137 – 1371Y → H.
    Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
    VAR_056508
    Natural varianti153 – 1531H → D in allele Cw*16:02 and allele Cw*16:04.
    VAR_016632
    Natural varianti157 – 1571C → W in allele Cw*16:02 and allele Cw*16:04.
    VAR_016633
    Natural varianti180 – 1801Q → W in allele Cw*16:04; requires 2 nucleotide substitutions.
    VAR_016634
    Natural varianti182 – 1821A → V.
    Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
    VAR_056509
    Natural varianti201 – 2011E → K.
    Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
    VAR_056510
    Natural varianti272 – 2721V → M.
    Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
    VAR_056511

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei299 – 33840Missing in isoform 2. CuratedVSP_008096Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M24097 mRNA. Translation: AAA59656.1.
    M24097 mRNA. Translation: AAA59657.1.
    X76189 mRNA. Translation: CAA53783.1.
    AJ011883 Genomic DNA. Translation: CAB65547.1.
    Y18657, Y18658, Y18659 Genomic DNA. Translation: CAB72095.1.
    Y18139 Genomic DNA. Translation: CAB71932.1.
    AH006138 Genomic DNA. Translation: AAC17728.1.
    Z75172 Genomic DNA. Translation: CAA99487.1.
    PIRiA59028.
    S42823.
    UniGeneiHs.656020.
    Hs.743218.
    Hs.77961.

    Genome annotation databases

    EnsembliENST00000438171; ENSP00000393374; ENSG00000237022.

    Polymorphism databases

    DMDMi34305705.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M24097 mRNA. Translation: AAA59656.1 .
    M24097 mRNA. Translation: AAA59657.1 .
    X76189 mRNA. Translation: CAA53783.1 .
    AJ011883 Genomic DNA. Translation: CAB65547.1 .
    Y18657 , Y18658 , Y18659 Genomic DNA. Translation: CAB72095.1 .
    Y18139 Genomic DNA. Translation: CAB71932.1 .
    AH006138 Genomic DNA. Translation: AAC17728.1 .
    Z75172 Genomic DNA. Translation: CAA99487.1 .
    PIRi A59028.
    S42823.
    UniGenei Hs.656020.
    Hs.743218.
    Hs.77961.

    3D structure databases

    ProteinModelPortali Q29960.
    SMRi Q29960. Positions 26-302.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q29960. 1 interaction.

    Polymorphism databases

    DMDMi 34305705.

    Proteomic databases

    PRIDEi Q29960.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000438171 ; ENSP00000393374 ; ENSG00000237022 .

    Organism-specific databases

    GeneCardsi GC06M031236.
    GC06Ml31280.
    H-InvDB HIX0078594.
    HGNCi HGNC:4933. HLA-C.
    MIMi 142840. gene.
    neXtProti NX_Q29960.
    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 Q29960.

    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. "Three new class I HLA alleles: structure of mRNAs and alternative mechanisms of processing."
      Cianetti L., Testa U., Scotto L., la Valle R., Simeone A., Boccoli G., Giannella G., Peschle C., Boncinelli E.
      Immunogenetics 29:80-91(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*16:01), ALTERNATIVE SPLICING.
    2. "Molecular characterization of a novel, serologically detectable, HLA-C allele: Cw*1602."
      Vilches C., Herrero M.J., de Pablo R., Moreno M.E., Bunce M., Kreisler M.
      Hum. Immunol. 41:167-170(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*16:02).
    3. "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*16:04).
    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 OF 26-206 (ALLELE CW*16:04).
    5. "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*16:04).

    Entry informationi

    Entry namei1C16_HUMAN
    AccessioniPrimary (citable) accession number: Q29960
    Secondary accession number(s): O78091
    , O78202, Q29862, Q29959, Q9MY74, Q9MYI3, Q9TNZ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 22, 2003
    Last sequence update: November 1, 1996
    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