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P30508

- 1C12_HUMAN

UniProt

P30508 - 1C12_HUMAN

Protein

HLA class I histocompatibility antigen, Cw-12 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 126 (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. immune response Source: UniProtKB
    7. interferon-gamma-mediated signaling pathway Source: Reactome
    8. positive regulation of T cell mediated cytotoxicity Source: InterPro
    9. regulation of immune response Source: Reactome
    10. type I interferon signaling pathway Source: Reactome
    11. 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-12 alpha chain
    Alternative name(s):
    MHC class I antigen Cw*12
    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 vesicular exosome Source: UniProt
    6. Golgi apparatus Source: UniProt
    7. Golgi membrane Source: Reactome
    8. integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
    9. integral component of plasma membrane Source: UniProtKB
    10. MHC class I protein complex Source: UniProt
    11. phagocytic vesicle membrane Source: Reactome
    12. 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-12 alpha chainPRO_0000018876Add
    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

    MaxQBiP30508.
    PaxDbiP30508.
    PRIDEiP30508.

    Expressioni

    Gene expression databases

    CleanExiHS_HLA-C.
    GenevestigatoriP30508.

    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

    IntActiP30508. 7 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliP30508.
    SMRiP30508. 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

    eggNOGiNOG42056.
    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.

    P30508-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRVMAPRTLI LLLSGALALT ETWACSHSMR YFYTAVSRPG RGEPRFIAVG    50
    YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV 100
    SLRNLRGYYN QSEAGSHTLQ RMYGCDLGPD 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):40,886
    Last modified:August 22, 2003 - v2
    Checksum:i598C8795CD033FB7
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti25 – 251C → G(PubMed:2843461)Curated
    Sequence conflicti140 – 1401S → V in AAA59847. (PubMed:2843461)Curated

    Polymorphismi

    The following alleles of Cw-12 are known: Cw*12:02, Cw*12:03, Cw*12:04, Cw*12:05, Cw*12:06, Cw*12:07, Cw*12:08 and Cw*12:09. The sequence shown is that of Cw*12:02.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti73 – 731A → E.
    Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
    VAR_056487
    Natural varianti76 – 761V → M.
    Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
    VAR_056488
    Natural varianti90 – 901K → N in allele Cw*12:08.
    Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
    VAR_016622
    Natural varianti97 – 971A → T in allele Cw*12:05 and allele Cw*12:09.
    Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
    VAR_016623
    Natural varianti101 – 1011S → G in allele Cw*12:07.
    VAR_016624
    Natural varianti101 – 1011S → N in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09.
    Corresponds to variant rs2308557 [ dbSNP | Ensembl ].
    VAR_016625
    Natural varianti104 – 1041N → K in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09.
    Corresponds to variant rs17408553 [ dbSNP | Ensembl ].
    VAR_016626
    Natural varianti121 – 1211R → W in allele Cw*12:03, allele Cw*12:04, allele Cw*12:05, allele Cw*12:06, allele Cw*12:07 and allele Cw*12:09.
    VAR_016627
    Natural varianti137 – 1371Y → H.
    Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
    VAR_056489
    Natural varianti144 – 1441G → V in allele Cw*12:06.
    VAR_016628
    Natural varianti180 – 1801W → R in allele Cw*12:09.
    VAR_016629
    Natural varianti182 – 1821A → V.
    Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
    VAR_056490
    Natural varianti201 – 2011E → K.
    Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
    VAR_056491
    Natural varianti208 – 2081H → P.1 Publication
    VAR_054155
    Natural varianti272 – 2721V → M.
    Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
    VAR_056492
    Natural varianti363 – 3631A → T.1 Publication
    VAR_054156

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M21963 mRNA. Translation: AAA59847.1.
    M28172 Genomic DNA. Translation: AAA59670.1.
    X70856 mRNA. Translation: CAA50209.1.
    X70857 mRNA. Translation: CAA50210.1.
    D64152 mRNA. Translation: BAA19537.1.
    D83741 mRNA. Translation: BAA32615.1.
    AH008326 Genomic DNA. Translation: AAF04581.1.
    U06695 mRNA. Translation: AAA92995.1.
    U06696 mRNA. Translation: AAA92996.1.
    X82122 mRNA. Translation: CAA57634.1.
    AJ420248 Genomic DNA. Translation: CAD12433.1.
    D64146 mRNA. Translation: BAA19532.1.
    Y11843 mRNA. Translation: CAA72592.1.
    X99704 mRNA. Translation: CAA68035.1.
    AH006134 Genomic DNA. Translation: AAC17724.1.
    AH006135 Genomic DNA. Translation: AAC17725.1.
    Z83247 mRNA. Translation: CAB05845.1.
    Z80228 Genomic DNA. Translation: CAB02409.1.
    AJ249163 Genomic DNA. Translation: CAB53538.1.
    AJ249164 Genomic DNA. Translation: CAB53539.1.
    AJ304496 Genomic DNA. Translation: CAC19018.1.
    AJ550622 Genomic DNA. Translation: CAD79471.1.
    AJ550623 Genomic DNA. Translation: CAD79472.1.
    PIRiA59028.
    I37526.
    I38507.
    I54449.
    I72113.
    UniGeneiHs.656020.
    Hs.743218.
    Hs.77961.

    Genome annotation databases

    EnsembliENST00000420206; ENSP00000410214; ENSG00000228299.

    Polymorphism databases

    DMDMi34223723.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M21963 mRNA. Translation: AAA59847.1 .
    M28172 Genomic DNA. Translation: AAA59670.1 .
    X70856 mRNA. Translation: CAA50209.1 .
    X70857 mRNA. Translation: CAA50210.1 .
    D64152 mRNA. Translation: BAA19537.1 .
    D83741 mRNA. Translation: BAA32615.1 .
    AH008326 Genomic DNA. Translation: AAF04581.1 .
    U06695 mRNA. Translation: AAA92995.1 .
    U06696 mRNA. Translation: AAA92996.1 .
    X82122 mRNA. Translation: CAA57634.1 .
    AJ420248 Genomic DNA. Translation: CAD12433.1 .
    D64146 mRNA. Translation: BAA19532.1 .
    Y11843 mRNA. Translation: CAA72592.1 .
    X99704 mRNA. Translation: CAA68035.1 .
    AH006134 Genomic DNA. Translation: AAC17724.1 .
    AH006135 Genomic DNA. Translation: AAC17725.1 .
    Z83247 mRNA. Translation: CAB05845.1 .
    Z80228 Genomic DNA. Translation: CAB02409.1 .
    AJ249163 Genomic DNA. Translation: CAB53538.1 .
    AJ249164 Genomic DNA. Translation: CAB53539.1 .
    AJ304496 Genomic DNA. Translation: CAC19018.1 .
    AJ550622 Genomic DNA. Translation: CAD79471.1 .
    AJ550623 Genomic DNA. Translation: CAD79472.1 .
    PIRi A59028.
    I37526.
    I38507.
    I54449.
    I72113.
    UniGenei Hs.656020.
    Hs.743218.
    Hs.77961.

    3D structure databases

    ProteinModelPortali P30508.
    SMRi P30508. Positions 26-302.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi P30508. 7 interactions.

    Polymorphism databases

    DMDMi 34223723.

    Proteomic databases

    MaxQBi P30508.
    PaxDbi P30508.
    PRIDEi P30508.

    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_P30508.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42056.
    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 P30508.

    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. "Cloning and analysis of HLA class I cDNA encoding a new HLA-C specificity Cx52."
      Takata H., Inoko H., Ando A., Haranaka M., Watanabe B., Tsuji K., Iri H.
      Immunogenetics 28:265-270(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:02).
    2. "The structure and expression of genes encoding serologically undetected HLA-C locus antigens."
      Takiguchi M., Nishimura I., Hayashi H., Karaki S., Kariyone A., Kano K.
      J. Immunol. 143:1372-1378(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*12:02).
    3. "Molecular cloning and polymerase chain reaction-sequence-specific oligonucleotide detection of the allele encoding the novel allospecificity HLA-Cw6.2 (Cw*1502) in Spanish gypsies."
      Vilches C., de Pablo R., Herrero M.J., Moreno M.E., Kreisler M.
      Hum. Immunol. 37:259-263(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:02).
    4. "HLA-C alleles in Japanese and a novel allele from a non-Japanese individual."
      Wang H., Tokunaga K.
      Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE OF 1-298 (ALLELE CW*12:02).
      Tissue: Peripheral blood.
    5. "An HLA-Cw allele detected by PCR-SSO."
      Greville W.D., Ng G., Kennedy A., Kennedy C.T., Le T., Dodd R., Wallace R., Dunckley H.
      Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*12:02).
    6. "Identification of two new HLA-C alleles, Cw*1203 and Cw*1402, from the sequence analysis of seven HLA homozygous cell lines carrying HLA-C blank."
      Cereb N., Choi J.W., Lee S., Maye P., Kong Y., Yang S.Y.
      Tissue Antigens 44:193-195(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:03).
      Tissue: Blood.
    7. Pablo R.
      Submitted (OCT-1994) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*12:03).
    8. Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*12:03).
    9. "HLA-C locus polymorphisms in Japanese."
      Wang H., Tokunaga K.
      Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE OF 1-298 (ALLELE CW*12:03).
      Tissue: Peripheral blood.
    10. "A new pair of HLA-C alleles, Cw*12042 and Cw*1203, differing at the KIR-related dimorphism of codons 77-80."
      Vilches C., Bunce M., van Dam M., de Pablo R.
      Tissue Antigens 51:101-105(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:04).
    11. Tatari Z.
      Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE OF 1-227 (ALLELE CW*12:04).
    12. "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 (ALLELES CW*12:04 AND CW*12:06).
    13. "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 / MRNA] (ALLELE CW*12:05).
    14. "Nucleotide sequence of an HLA-Cw*1203 variant allele with a new polymorphic position in exon 2."
      Davey S., Dunn P.P.
      Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*12:07).
    15. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*12:08).
    16. "Identification of confirmatory sequence of Cw*1209."
      Day S., Carter V.
      Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*12:09).
    17. Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-208 AND THR-363.

    Entry informationi

    Entry namei1C12_HUMAN
    AccessioniPrimary (citable) accession number: P30508
    Secondary accession number(s): O02863
    , O19652, O62882, O78062, O78166, O78211, O78214, P30509, Q29768, Q31627, Q860R1, Q860R2, Q99528, Q9GIK4, Q9TPS4, Q9UM32, Q9UM33
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: August 22, 2003
    Last modified: October 1, 2014
    This is version 126 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