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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: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the presentation of foreign antigens to the immune system.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Host-virus interaction, Immunity

Enzyme and pathway databases

ReactomeiR-HSA-1236974. ER-Phagosome pathway.
R-HSA-1236977. Endosomal/Vacuolar pathway.
R-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
R-HSA-877300. Interferon gamma signaling.
R-HSA-909733. Interferon alpha/beta signaling.
R-HSA-983170. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:4933. HLA-C.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini25 – 308ExtracellularSequence analysisAdd BLAST284
Transmembranei309 – 333HelicalSequence analysisAdd BLAST25
Topological domaini334 – 366CytoplasmicSequence analysisAdd BLAST33

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, MHC I

Pathology & Biotechi

Involvement in diseasei

Psoriasis 1 (PSORS1)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:177900

Organism-specific databases

MalaCardsiHLA-C.
MIMi177900. phenotype.
OpenTargetsiENSG00000228299.

Polymorphism and mutation databases

DMDMi34305706.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Add BLAST24
ChainiPRO_000001887325 – 366HLA class I histocompatibility antigen, Cw-6 alpha chainAdd BLAST342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...)By similarity1
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

EPDiQ29963.
PeptideAtlasiQ29963.
PRIDEiQ29963.

PTM databases

SwissPalmiQ29963.

Expressioni

Gene expression databases

BgeeiENSG00000228299.
CleanExiHS_HLA-C.

Organism-specific databases

HPAiHPA031454.

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. 2 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ29963.
SMRiQ29963.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini209 – 297Ig-like C1-typeAdd BLAST89

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni25 – 114Alpha-1Add BLAST90
Regioni115 – 206Alpha-2Add BLAST92
Regioni207 – 298Alpha-3Add BLAST92
Regioni299 – 308Connecting peptide10

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.
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]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF54452. 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)DescriptionActionsGraphical viewLength
Sequence conflicti33D → C in AAA57258 (PubMed:2714852).Curated1
Sequence conflicti202T → S in AAA36235 (PubMed:2714853).Curated1

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01662033D → Y in allele Cw*06:03. Corresponds to variant rs9264668dbSNPEnsembl.1
Natural variantiVAR_05647443E → K.Corresponds to variant rs1050438dbSNPEnsembl.1
Natural variantiVAR_06144748S → A.Corresponds to variant rs707911dbSNPEnsembl.1
Natural variantiVAR_06144848S → P.Corresponds to variant rs707911dbSNPEnsembl.1
Natural variantiVAR_06144948S → T.Corresponds to variant rs707911dbSNPEnsembl.1
Natural variantiVAR_05647573A → E.Corresponds to variant rs1050409dbSNPEnsembl.1
Natural variantiVAR_05647676V → M.Corresponds to variant rs1065382dbSNPEnsembl.1
Natural variantiVAR_05647790K → N.Corresponds to variant rs28626310dbSNPEnsembl.1
Natural variantiVAR_05647897A → T.Corresponds to variant rs41543814dbSNPEnsembl.1
Natural variantiVAR_056479137Y → H.Corresponds to variant rs2308574dbSNPEnsembl.1
Natural variantiVAR_016621180W → L in allele Cw*06:04. Corresponds to variant rs79636386dbSNPEnsembl.1
Natural variantiVAR_056480182A → V.Corresponds to variant rs1059539dbSNPEnsembl.1
Natural variantiVAR_056481201E → K.Corresponds to variant rs1131103dbSNPEnsembl.1
Natural variantiVAR_056482272V → M.Combined sourcesCorresponds to variant rs1050276dbSNPEnsembl.1

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.

Genome annotation databases

EnsembliENST00000420206; ENSP00000410214; ENSG00000228299.

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.
PIRiI68749.
UniGeneiHs.656020.
Hs.743218.

3D structure databases

ProteinModelPortaliQ29963.
SMRiQ29963.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ29963. 2 interactors.

PTM databases

SwissPalmiQ29963.

Polymorphism and mutation databases

DMDMi34305706.

Proteomic databases

EPDiQ29963.
PeptideAtlasiQ29963.
PRIDEiQ29963.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000420206; ENSP00000410214; ENSG00000228299.

Organism-specific databases

GeneCardsiHLA-C.
HGNCiHGNC:4933. HLA-C.
HPAiHPA031454.
MalaCardsiHLA-C.
MIMi142840. gene.
177900. phenotype.
neXtProtiNX_Q29963.
OpenTargetsiENSG00000228299.
GenAtlasiSearch...

Phylogenomic databases

HOVERGENiHBG016709.

Enzyme and pathway databases

ReactomeiR-HSA-1236974. ER-Phagosome pathway.
R-HSA-1236977. Endosomal/Vacuolar pathway.
R-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
R-HSA-877300. Interferon gamma signaling.
R-HSA-909733. Interferon alpha/beta signaling.
R-HSA-983170. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

Miscellaneous databases

ChiTaRSiHLA-C. human.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000228299.
CleanExiHS_HLA-C.

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.
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]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF54452. SSF54452. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 139 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.