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Q29963

- 1C06_HUMAN

UniProt

Q29963 - 1C06_HUMAN

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Protein

HLA class I histocompatibility antigen, Cw-6 alpha chain

Gene

HLA-C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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-6 alpha chain
Alternative name(s):
MHC class I antigen Cw*6
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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 308284ExtracellularSequence AnalysisAdd
BLAST
Transmembranei309 – 33325HelicalSequence AnalysisAdd
BLAST
Topological domaini334 – 36633CytoplasmicSequence AnalysisAdd
BLAST

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
Complete GO annotation...

Keywords - Cellular componenti

Membrane, MHC I

Pathology & Biotechi

Involvement in diseasei

Psoriasis 1 (PSORS1) [MIM:177900]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Organism-specific databases

MIMi177900. phenotype.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Add
BLAST
Chaini25 – 366342HLA class I histocompatibility antigen, Cw-6 alpha chainPRO_0000018873Add
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

MaxQBiQ29963.
PRIDEiQ29963.

Expressioni

Gene expression databases

CleanExiHS_HLA-C.
GenevestigatoriQ29963.

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

IntActiQ29963. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ29963.
SMRiQ29963. Positions 26-298.
ModBaseiSearch...
MobiDBiSearch...

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]

Sequencei

Sequence statusi: Complete.

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

Q29963-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MRVMAPRTLI LLLSGALALT ETWACSHSMR YFDTAVSRPG RGEPRFISVG
60 70 80 90 100
YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV
110 120 130 140 150
NLRKLRGYYN QSEDGSHTLQ WMYGCDLGPD GRLLRGYDQS AYDGKDYIAL
160 170 180 190 200
NEDLRSWTAA DTAAQITQRK WEAAREAEQW RAYLEGTCVE WLRRYLENGK
210 220 230 240 250
ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ
260 270 280 290 300
DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWEP
310 320 330 340 350
SSQPTIPIVG IVAGLAVLAV LAVLGAVMAV VMCRRKSSGG KGGSCSQAAS
360
SNSAQGSDES LIACKA
Length:366
Mass (Da):40,969
Last modified:August 22, 2003 - v2
Checksum:i45876CB22256DE80
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 331D → C in AAA57258. (PubMed:2714852)Curated
Sequence conflicti202 – 2021T → S in AAA36235. (PubMed:2714853)Curated

Polymorphismi

The following alleles of Cw-6 are known: Cw*06:02 Cw*06:03 and Cw*06:04. Allele Cw*062 is a risk factor that confers susceptibility to psoriasis. The sequence shown is that of Cw*06:02.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331D → Y in allele Cw*06:03.
VAR_016620
Natural varianti43 – 431E → K.
Corresponds to variant rs1050438 [ dbSNP | Ensembl ].
VAR_056474
Natural varianti48 – 481S → A.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061447
Natural varianti48 – 481S → P.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061448
Natural varianti48 – 481S → T.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061449
Natural varianti73 – 731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_056475
Natural varianti76 – 761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056476
Natural varianti90 – 901K → N.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_056477
Natural varianti97 – 971A → T.
Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
VAR_056478
Natural varianti137 – 1371Y → H.
Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
VAR_056479
Natural varianti180 – 1801W → L in allele Cw*06:04.
VAR_016621
Natural varianti182 – 1821A → V.
Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
VAR_056480
Natural varianti201 – 2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056481
Natural varianti272 – 2721V → M.
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_056482

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M28160 mRNA. Translation: AAA36235.1.
Z22752, Z22753, Z22754 Genomic DNA. Translation: CAA80437.1.
M28206 mRNA. Translation: AAA57258.1.
AF019568, AF019567 Genomic DNA. Translation: AAC17721.1.
AB008136 Genomic DNA. Translation: BAA22919.1.
PIRiI68749.
UniGeneiHs.656020.
Hs.743218.
Hs.77961.

Genome annotation databases

EnsembliENST00000420206; ENSP00000410214; ENSG00000228299.
UCSCiuc011gas.2. human.

Polymorphism databases

DMDMi34305706.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M28160 mRNA. Translation: AAA36235.1 .
Z22752 , Z22753 , Z22754 Genomic DNA. Translation: CAA80437.1 .
M28206 mRNA. Translation: AAA57258.1 .
AF019568 , AF019567 Genomic DNA. Translation: AAC17721.1 .
AB008136 Genomic DNA. Translation: BAA22919.1 .
PIRi I68749.
UniGenei Hs.656020.
Hs.743218.
Hs.77961.

3D structure databases

ProteinModelPortali Q29963.
SMRi Q29963. Positions 26-298.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q29963. 1 interaction.

Polymorphism databases

DMDMi 34305706.

Proteomic databases

MaxQBi Q29963.
PRIDEi Q29963.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000420206 ; ENSP00000410214 ; ENSG00000228299 .
UCSCi uc011gas.2. human.

Organism-specific databases

GeneCardsi GC06M031236.
GC06Mk31228.
HGNCi HGNC:4933. HLA-C.
MIMi 142840. gene.
177900. phenotype.
neXtProti NX_Q29963.
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 Q29963.

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. "Isolation and expression of a cDNA clone encoding HLA-CW6: unique characteristics of HLA-C encoded gene products."
    Mizuno S., Kang S.H., Lee H.W., Trapani J.A., Dupont B., Yang S.Y.
    Immunogenetics 29:323-330(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*06:02).
  2. "Isolation and characterization of a genomic HLA-Cw6 clone."
    Steinle A., Noessner E., Schendel D.J.
    Tissue Antigens 39:134-137(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*06:02).
  3. "Allelic variation in HLA-B and HLA-C sequences and the evolution of the HLA-B alleles."
    Pohla H., Kuon W., Tabaczewski P., Doerner C., Weiss E.H.
    Immunogenetics 29:297-307(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 22-366 (ALLELE CW*06:02).
  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 [GENOMIC DNA] OF 26-206 (ALLELE CW*06:03).
  5. "Diversity of HLA-B17 alleles and haplotypes in East Asians and a novel Cw6 allele (Cw*0604) associated with B*5701."
    Inoue T., Ogawa A., Tokunaga K., Ishikawa Y., Kashiwase K., Tanaka H., Park M.H., Jia G.J., Chimge N.-O., Sideltseva E.W., Akaza T., Tadokoro K., Takahashi T., Juji T.
    Tissue Antigens 53:534-544(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*06:04).
    Tissue: Blood.
  6. Cited for: ASSOCIATION OF ALLELE CW*06:02 WITH PSORIASIS.
  7. "Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR."
    Helms C., Saccone N.L., Cao L., Daw J.A.W., Cao K., Hsu T.M., Taillon-Miller P., Duan S., Gordon D., Pierce B., Ott J., Rice J., Fernandez-Vina M.A., Kwok P.-Y., Menter A., Bowcock A.M.
    Hum. Genet. 118:466-476(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION OF ALLELE CW*06:02 WITH PSORIASIS.
  8. Cited for: INVOLVEMENT IN PSORS1.

Entry informationi

Entry namei1C06_HUMAN
AccessioniPrimary (citable) accession number: Q29963
Secondary accession number(s): O19505, O78063, Q29989
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: August 22, 2003
Last modified: October 1, 2014
This is version 124 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