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P30499

- 1C01_HUMAN

UniProt

P30499 - 1C01_HUMAN

Protein

HLA class I histocompatibility antigen, Cw-1 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 117 (01 Oct 2014)
      Sequence version 1 (01 Apr 1993)
      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
    2. TAP binding Source: UniProt

    GO - Biological processi

    1. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent Source: UniProt
    2. antigen processing and presentation of exogenous peptide antigen via MHC class I Source: Reactome
    3. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
    4. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent Source: Reactome
    5. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
    6. cytokine-mediated signaling pathway Source: Reactome
    7. immune response Source: UniProtKB
    8. interferon-gamma-mediated signaling pathway Source: Reactome
    9. positive regulation of T cell mediated cytotoxicity Source: InterPro
    10. regulation of immune response Source: Reactome
    11. type I interferon signaling pathway Source: Reactome
    12. 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-1 alpha chain
    Alternative name(s):
    MHC class I antigen Cw*1
    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. integral component of plasma membrane Source: UniProtKB
    9. MHC class I protein complex Source: UniProt
    10. phagocytic vesicle membrane Source: Reactome
    11. 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-1 alpha chainPRO_0000018868Add
    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

    PaxDbiP30499.
    PRIDEiP30499.

    Expressioni

    Gene expression databases

    CleanExiHS_HLA-C.
    GenevestigatoriP30499.

    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

    ProteinModelPortaliP30499.
    SMRiP30499. 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

    eggNOGiNOG42056.
    HOVERGENiHBG016709.
    PhylomeDBiP30499.

    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.

    P30499-1 [UniParc]FASTAAdd to Basket

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    MRVMEPRTLI LLLSGALALT ETWACSHSMK YFFTSVSRPG RGEPRFISVG    50
    YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YNRQAQTDRV 100
    SLRNLRGYYN QSEAGSHTLQ WMCGCDLGPD GRLLRGYDQY AYDGKDYIAL 150
    NEDLRSWTAA DTAAQITQRK WEAAREAEER RAYLEGTCVE WLRRYLENGK 200
    ESLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQWDGEDQTQ 250
    DTELVETRPA GDGTFQKWAA VMVPSGEEQR YTCHVQHEGL PEPLTLRWEP 300
    SSQPTIPIVG IVAGLAVLAV LAVLGAVVAV VMCRRKSSGG KGGSCSQAAS 350
    SNSAQGSDES LIASKA 366
    Length:366
    Mass (Da):40,965
    Last modified:April 1, 1993 - v1
    Checksum:i285CCFCB92788744
    GO

    Polymorphismi

    The following alleles of Cw-1 are known: Cw*01:01 (Cw1.1), Cw*01:02 (Cw1.2), Cw*01:03 and Cw*01:04. The sequence shown is that of Cw*01:01.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51E → A in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
    VAR_016544
    Natural varianti43 – 431E → K.
    Corresponds to variant rs1050438 [ dbSNP | Ensembl ].
    VAR_056454
    Natural varianti48 – 481S → A.
    Corresponds to variant rs707911 [ dbSNP | Ensembl ].
    VAR_061444
    Natural varianti48 – 481S → P.
    Corresponds to variant rs707911 [ dbSNP | Ensembl ].
    VAR_061445
    Natural varianti48 – 481S → T.
    Corresponds to variant rs707911 [ dbSNP | Ensembl ].
    VAR_061446
    Natural varianti73 – 731A → E.
    Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
    VAR_056455
    Natural varianti76 – 761V → M.
    Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
    VAR_056456
    Natural varianti90 – 901K → N.
    Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
    VAR_056457
    Natural varianti92 – 921N → K in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
    VAR_016545
    Natural varianti138 – 1381D → N in allele Cw*01:03.
    VAR_016546
    Natural varianti140 – 1401Y → F in allele Cw*01:03.
    VAR_016547
    Natural varianti140 – 1401Y → S in allele Cw*01:04.
    VAR_016548
    Natural varianti179 – 1791E → Q in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
    VAR_016549
    Natural varianti180 – 1801R → W in allele Cw*01:04.
    VAR_016550
    Natural varianti201 – 2011E → K.
    Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
    VAR_056458
    Natural varianti202 – 2021S → T in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
    VAR_016551
    Natural varianti243 – 2431W → R in allele Cw*01:04.
    VAR_016552
    Natural varianti272 – 2721M → V in allele Cw*01:04.
    VAR_016553
    Natural varianti328 – 3281V → M in allele Cw*01:04.
    VAR_016554
    Natural varianti364 – 3641S → C in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
    VAR_016555

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M26429 mRNA. Translation: AAA59701.1.
    M16272 Genomic DNA. Translation: AAA59700.1.
    M84171 mRNA. Translation: AAA59685.1.
    Z46809 mRNA. Translation: CAA86839.1.
    D64145 mRNA. Translation: BAA19531.1.
    AJ133100 Genomic DNA. Translation: CAB38942.1.
    PIRiI37528.
    I54430.
    I59622.
    UniGeneiHs.656020.
    Hs.743218.
    Hs.77961.

    Genome annotation databases

    EnsembliENST00000438171; ENSP00000393374; ENSG00000237022.

    Polymorphism databases

    DMDMi231423.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M26429 mRNA. Translation: AAA59701.1 .
    M16272 Genomic DNA. Translation: AAA59700.1 .
    M84171 mRNA. Translation: AAA59685.1 .
    Z46809 mRNA. Translation: CAA86839.1 .
    D64145 mRNA. Translation: BAA19531.1 .
    AJ133100 Genomic DNA. Translation: CAB38942.1 .
    PIRi I37528.
    I54430.
    I59622.
    UniGenei Hs.656020.
    Hs.743218.
    Hs.77961.

    3D structure databases

    ProteinModelPortali P30499.
    SMRi P30499. Positions 26-298.
    ModBasei Search...
    MobiDBi Search...

    Polymorphism databases

    DMDMi 231423.

    Proteomic databases

    PaxDbi P30499.
    PRIDEi P30499.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000438171 ; ENSP00000393374 ; ENSG00000237022 .

    Organism-specific databases

    GeneCardsi GC06M031236.
    GC06Ml31280.
    HGNCi HGNC:4933. HLA-C.
    MIMi 142840. gene.
    neXtProti NX_P30499.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42056.
    HOVERGENi HBG016709.
    PhylomeDBi P30499.

    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 P30499.

    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. "Complete nucleotide sequence of a unique HLA class I C locus product expressed on the human choriocarcinoma cell line BeWo."
      Ellis S.A., Strachan T., Palmer M.S., McMichael A.J.
      J. Immunol. 142:3281-3285(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:01).
    2. "Isolation, expression, and the primary structure of HLA-Cw1 and HLA-Cw2 genes: evolutionary aspects."
      Gussow D., Rein R.S., Meijer I., de Hoog W., Seemann G.H., Hochstenbach F.M., Ploegh H.L.
      Immunogenetics 25:313-322(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*01:02).
    3. "The molecular basis for reactivity of anti-Cw1 and anti-Cw3 alloantisera with HLA-B46 haplotypes."
      Zemmour J., Gumperz J.E., Hildebrand W.H., Ward F.E., Marsh S.G.E., Williams R.C., Parham P.
      Tissue Antigens 39:249-257(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:02).
    4. "HLA class I alleles of LCL 721 and 174 x CEM.T2 (T2)."
      Steinle A., Schendel D.J.
      Tissue Antigens 44:268-270(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-206 (ALLELE CW*01:02).
    5. "Cw*0103, a new allele encoding for a novel HLA-Cw1 split in the Japanese population."
      Wang H., Nakajima F., Tokunaga K., Kashiwase K., Ishikawa Y., Juji T.
      Tissue Antigens 51:571-573(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:03).
      Tissue: Peripheral blood.
    6. "Full length sequencing of a new Cw*01 variant allele."
      Day S.
      Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*01:04).

    Entry informationi

    Entry namei1C01_HUMAN
    AccessioniPrimary (citable) accession number: P30499
    Secondary accession number(s): O02865
    , O19676, P30500, Q29986, Q9UQS9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: April 1, 1993
    Last modified: October 1, 2014
    This is version 117 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