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P30504

- 1C04_HUMAN

UniProt

P30504 - 1C04_HUMAN

Protein

HLA class I histocompatibility antigen, Cw-4 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 124 (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 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. innate immune response Source: Reactome
    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_147694. DAP12 interactions.
    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-4 alpha chain
    Alternative name(s):
    MHC class I antigen Cw*4
    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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Add
    BLAST
    Chaini25 – 366342HLA class I histocompatibility antigen, Cw-4 alpha chainPRO_0000018871Add
    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

    PaxDbiP30504.
    PRIDEiP30504.

    Expressioni

    Gene expression databases

    CleanExiHS_HLA-C.
    GenevestigatoriP30504.

    Interactioni

    Subunit structurei

    Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein By similarity. Interacts with HTLV-1 p12I accessory protein.By similarity1 Publication

    Protein-protein interaction databases

    IntActiP30504. 12 interactions.
    MINTiMINT-101019.

    Structurei

    Secondary structure

    1
    366
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi27 – 3711
    Beta strandi45 – 528
    Beta strandi55 – 6612
    Beta strandi70 – 734
    Helixi74 – 774
    Helixi81 – 10828
    Beta strandi113 – 1153
    Beta strandi117 – 12711
    Beta strandi129 – 14214
    Beta strandi145 – 1506
    Beta strandi157 – 1615
    Helixi162 – 17312
    Helixi176 – 18510
    Helixi187 – 19812
    Helixi200 – 2034
    Beta strandi210 – 2178
    Beta strandi219 – 2213
    Beta strandi223 – 23513
    Beta strandi238 – 2436
    Helixi249 – 2513
    Beta strandi252 – 2543
    Beta strandi261 – 2633
    Beta strandi265 – 2739
    Helixi278 – 2803
    Beta strandi281 – 2866
    Beta strandi290 – 2923
    Beta strandi294 – 2963

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1IM9X-ray2.80A/E25-299[»]
    1QQDX-ray2.70A26-298[»]
    ProteinModelPortaliP30504.
    SMRiP30504. Positions 26-298.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP30504.

    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.

    P30504-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRVMAPRTLI LLLSGALALT ETWAGSHSMR YFSTSVSWPG RGEPRFIAVG    50
    YVDDTQFVRF DSDAASPRGE PREPWVEQEG PEYWDRETQK YKRQAQADRV 100
    NLRKLRGYYN QSEDGSHTLQ RMFGCDLGPD GRLLRGYNQF AYDGKDYIAL 150
    NEDLRSWTAA DTAAQITQRK WEAAREAEQR RAYLEGTCVE WLRRYLENGK 200
    ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQWDGEDQTQ 250
    DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWKP 300
    SSQPTIPIVG IVAGLAVLAV LAVLGAMVAV VMCRRKSSGG KGGSCSQAAS 350
    SNSAQGSDES LIACKA 366
    Length:366
    Mass (Da):40,995
    Last modified:April 1, 1993 - v1
    Checksum:iE883EB3968658DCB
    GO

    Polymorphismi

    The following alleles of Cw-4 are known: Cw*04:01 Cw*04:03, Cw*04:04, Cw*04:05 and Cw*04:06. The sequence shown is that of Cw*04:01.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331S → Y in allele Cw*04:03 and allele Cw*04:06.
    VAR_016571
    Natural varianti35 – 351S → A in allele Cw*04:03 and allele Cw*04:06.
    VAR_016572
    Natural varianti38 – 381W → R in allele Cw*04:03 and allele Cw*04:06.
    VAR_016573
    Natural varianti40 – 401G → S in allele Cw*04:03 and allele Cw*04:06.
    VAR_016574
    Natural varianti45 – 451R → H in allele Cw*04:03 and allele Cw*04:06.
    VAR_016575
    Natural varianti52 – 521V → L in allele Cw*04:05.
    VAR_016576
    Natural varianti73 – 731E → A in allele Cw*04:03 and allele Cw*04:06.
    VAR_016577
    Natural varianti76 – 761V → M.
    Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
    VAR_056464
    Natural varianti90 – 901K → N.
    Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
    VAR_056465
    Natural varianti97 – 971A → T.
    Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
    VAR_056466
    Natural varianti180 – 1801R → L in allele Cw*04:04 and allele Cw*04:06.
    VAR_016578
    Natural varianti182 – 1821A → V.
    Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
    VAR_056467
    Natural varianti201 – 2011E → K.
    Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
    VAR_056468
    Natural varianti272 – 2721V → M.
    Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
    VAR_056469
    Natural varianti327 – 3271M → V in allele Cw*04:03 and allele Cw*04:06.
    VAR_016579

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84386 mRNA. Translation: AAA59705.1.
    X58536 mRNA. Translation: CAA41427.1.
    AJ278494 Genomic DNA. Translation: CAB95011.1.
    AJ238694 Genomic DNA. Translation: CAB41889.2.
    L54059 Genomic DNA. Translation: AAB04639.1.
    AH006129 Genomic DNA. Translation: AAC17719.1.
    AH006130 Genomic DNA. Translation: AAC17720.1.
    AF076476 Genomic DNA. Translation: AAC27626.1.
    AH006107 Genomic DNA. Translation: AAC16245.1.
    PIRiA59028.
    JH0526.
    UniGeneiHs.656020.
    Hs.743218.
    Hs.77961.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi231433.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84386 mRNA. Translation: AAA59705.1 .
    X58536 mRNA. Translation: CAA41427.1 .
    AJ278494 Genomic DNA. Translation: CAB95011.1 .
    AJ238694 Genomic DNA. Translation: CAB41889.2 .
    L54059 Genomic DNA. Translation: AAB04639.1 .
    AH006129 Genomic DNA. Translation: AAC17719.1 .
    AH006130 Genomic DNA. Translation: AAC17720.1 .
    AF076476 Genomic DNA. Translation: AAC27626.1 .
    AH006107 Genomic DNA. Translation: AAC16245.1 .
    PIRi A59028.
    JH0526.
    UniGenei Hs.656020.
    Hs.743218.
    Hs.77961.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1IM9 X-ray 2.80 A/E 25-299 [» ]
    1QQD X-ray 2.70 A 26-298 [» ]
    ProteinModelPortali P30504.
    SMRi P30504. Positions 26-298.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi P30504. 12 interactions.
    MINTi MINT-101019.

    Polymorphism databases

    DMDMi 231433.

    Proteomic databases

    PaxDbi P30504.
    PRIDEi P30504.

    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_P30504.
    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_147694. DAP12 interactions.
    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.
    EvolutionaryTracei P30504.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_HLA-C.
    Genevestigatori P30504.

    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. Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*04:01).
    2. "Human immunodeficiency virus type 1 gp120 mimics a hidden monomorphic epitope borne by class I major histocompatibility complex heavy chains."
      Grassi F., Meneveri R., Gullberg M., Lopalco L., Rossi G.B., Lanza P., de Santis C., Brattsand G., Butto S., Ginelli E., Beretta A., Siccardi A.G.
      J. Exp. Med. 174:53-62(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*04:01).
    3. Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*04:01).
      Tissue: Blood.
    4. "A sequencing strategy for the rapid sequencing of HLA class I genes using random in vitro DNA transposition."
      Dunn P.P., van Dam M., Crosby I., Carter V.
      Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE OF 1-365 (ALLELE CW*04:01).
    5. "HLA-C typing of eleven Papua New Guineans: identification of an HLA-Cw4/Cw2 hybrid allele."
      Little A.-M., Mason A., Marsh S.G.E., Parham P.
      Tissue Antigens 48:113-117(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*04:03).
      Tissue: B-cell.
    6. "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 (ALLELES CW*04:04 AND CW*04:05).
    7. "Identification of a novel HLA-C allele, Cw*0406, in a Singapore Malay."
      Ren E.C., Haniff F., Loh M.T., Chan S.H., Petersdorf E., Hansen J.
      Tissue Antigens 53:198-200(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*04:06).
    8. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*04:06).
    9. "Free major histocompatibility complex class I heavy chain is preferentially targeted for degradation by human T-cell leukemia/lymphotropic virus type 1 p12(I) protein."
      Johnson J.M., Nicot C., Fullen J., Ciminale V., Casareto L., Mulloy J.C., Jacobson S., Franchini G.
      J. Virol. 75:6086-6094(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HTLV-1 ACCESSORY PROTEIN P12I.

    Entry informationi

    Entry namei1C04_HUMAN
    AccessioniPrimary (citable) accession number: P30504
    Secondary accession number(s): O78067
    , O78072, O78090, O78149, Q29921, Q9UM42
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: April 1, 1993
    Last modified: October 1, 2014
    This is version 124 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

    3D-structure, 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3