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Q29963 (1C06_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
HLA class I histocompatibility antigen, Cw-6 alpha chain
Alternative name(s):
MHC class I antigen Cw*6
Gene names
Name:HLA-C
Synonyms:HLAC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length366 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subunit structure

Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein By similarity.

Subcellular location

Membrane; Single-pass type I membrane protein.

Post-translational modification

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.

Polymorphism

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.

Involvement in disease

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the MHC class I family.

Contains 1 Ig-like C1-type (immunoglobulin-like) domain.

Ontologies

Keywords
   Biological processHost-virus interaction
Immunity
   Cellular componentMembrane
MHC I
   Coding sequence diversityPolymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processantigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent

Traceable author statement. Source: Reactome

antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent

Traceable author statement. Source: Reactome

interferon-gamma-mediated signaling pathway

Traceable author statement. Source: Reactome

positive regulation of T cell mediated cytotoxicity

Inferred from electronic annotation. Source: InterPro

regulation of immune response

Traceable author statement. Source: Reactome

type I interferon signaling pathway

Traceable author statement. Source: Reactome

viral process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentER to Golgi transport vesicle membrane

Traceable author statement. Source: Reactome

Golgi membrane

Traceable author statement. Source: Reactome

MHC class I protein complex

Inferred from sequence or structural similarity. Source: UniProt

cell surface

Inferred from sequence or structural similarity. Source: UniProt

early endosome membrane

Traceable author statement. Source: Reactome

integral component of lumenal side of endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

phagocytic vesicle membrane

Traceable author statement. Source: Reactome

   Molecular_functionpeptide antigen binding

Inferred from sequence or structural similarity. Source: UniProt

receptor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424
Chain25 – 366342HLA class I histocompatibility antigen, Cw-6 alpha chain
PRO_0000018873

Regions

Topological domain25 – 308284Extracellular Potential
Transmembrane309 – 33325Helical; Potential
Topological domain334 – 36633Cytoplasmic Potential
Domain209 – 29789Ig-like C1-type
Region25 – 11490Alpha-1
Region115 – 20692Alpha-2
Region207 – 29892Alpha-3
Region299 – 30810Connecting peptide

Amino acid modifications

Glycosylation1101N-linked (GlcNAc...) By similarity
Disulfide bond125 ↔ 188 By similarity
Disulfide bond227 ↔ 283 By similarity

Natural variations

Natural variant331D → Y in allele Cw*06:03.
VAR_016620
Natural variant431E → K.
Corresponds to variant rs1050438 [ dbSNP | Ensembl ].
VAR_056474
Natural variant481S → A.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061447
Natural variant481S → P.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061448
Natural variant481S → T.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061449
Natural variant731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_056475
Natural variant761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056476
Natural variant901K → N.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_056477
Natural variant971A → T.
Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
VAR_056478
Natural variant1371Y → H.
Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
VAR_056479
Natural variant1801W → L in allele Cw*06:04.
VAR_016621
Natural variant1821A → V.
Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
VAR_056480
Natural variant2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056481
Natural variant2721V → M.
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_056482

Experimental info

Sequence conflict331D → C in AAA57258. Ref.3
Sequence conflict2021T → S in AAA36235. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q29963 [UniParc].

Last modified August 22, 2003. Version 2.
Checksum: 45876CB22256DE80

FASTA36640,969
        10         20         30         40         50         60 
MRVMAPRTLI LLLSGALALT ETWACSHSMR YFDTAVSRPG RGEPRFISVG YVDDTQFVRF 

        70         80         90        100        110        120 
DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV NLRKLRGYYN QSEDGSHTLQ 

       130        140        150        160        170        180 
WMYGCDLGPD GRLLRGYDQS AYDGKDYIAL NEDLRSWTAA DTAAQITQRK WEAAREAEQW 

       190        200        210        220        230        240 
RAYLEGTCVE WLRRYLENGK ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT 

       250        260        270        280        290        300 
WQRDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWEP 

       310        320        330        340        350        360 
SSQPTIPIVG IVAGLAVLAV LAVLGAVMAV VMCRRKSSGG KGGSCSQAAS SNSAQGSDES 


LIACKA 

« Hide

References

[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]"HLA-C and guttate psoriasis."
Mallon E., Bunce M., Savoie H., Rowe A., Newson R., Gotch F., Bunker C.B.
Br. J. Dermatol. 143:1177-1182(2000) [PubMed] [Europe PMC] [Abstract]
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]"Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene."
Nair R.P., Stuart P.E., Nistor I., Hiremagalore R., Chia N.V.C., Jenisch S., Weichenthal M., Abecasis G.R., Lim H.W., Christophers E., Voorhees J.J., Elder J.T.
Am. J. Hum. Genet. 78:827-851(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PSORS1.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRI68749.
UniGeneHs.656020.
Hs.743218.
Hs.77961.

3D structure databases

ProteinModelPortalQ29963.
SMRQ29963. Positions 26-298.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ29963. 1 interaction.

Polymorphism databases

DMDM34305706.

Proteomic databases

PRIDEQ29963.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000420206; ENSP00000410214; ENSG00000228299.
UCSCuc011gas.2. human.

Organism-specific databases

GeneCardsGC06M031236.
GC06Mk31228.
HGNCHGNC:4933. HLA-C.
MIM142840. gene.
177900. phenotype.
neXtProtNX_Q29963.
GenAtlasSearch...

Phylogenomic databases

HOVERGENHBG016709.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

CleanExHS_HLA-C.
GenevestigatorQ29963.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProIPR007110. 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]
PfamPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
[Graphical view]
PRINTSPR01638. MHCCLASSI.
SMARTSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMSSF54452. SSF54452. 1 hit.
PROSITEPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHLA-C. human.
SOURCESearch...

Entry information

Entry name1C06_HUMAN
AccessionPrimary (citable) accession number: Q29963
Secondary accession number(s): O19505, O78063, Q29989
Entry history
Integrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: August 22, 2003
Last modified: March 19, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM