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Q95604 (1C17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. 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-17 alpha chain
Alternative name(s):
MHC class I antigen Cw*17
Gene names
Name:HLA-C
Synonyms:D6S204, HLA-JY3, HLAC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length372 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein 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

Cw*17 appears at low frequencies in Caucasoid and Mongoloid populations (gene frequency 0.41 % in English Caucasoids, 0% in Japanese), but seems to be a common specificity in populations of African origin (Ref.2). The following alleles of Cw-17 are known: Cw*17:01, Cw*17:02 and Cw*17:03. The sequence shown is that of Cw*17:01.

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

Traceable author statement. Source: Reactome

antigen 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

antigen processing and presentation of peptide antigen via MHC class I

Traceable author statement. Source: Reactome

cytokine-mediated signaling pathway

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 apparatus

Inferred from sequence or structural similarity. Source: UniProt

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

endoplasmic reticulum

Inferred from sequence or structural similarity. Source: UniProt

integral component of lumenal side of endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

phagocytic vesicle membrane

Traceable author statement. Source: Reactome

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionpeptide antigen binding

Inferred from sequence or structural similarity. Source: UniProt

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424
Chain25 – 372348HLA class I histocompatibility antigen, Cw-17 alpha chain
PRO_0000018880

Regions

Topological domain25 – 317293Extracellular Potential
Transmembrane318 – 33821Helical; Potential
Topological domain339 – 37234Cytoplasmic Potential
Domain209 – 29789Ig-like C1-type
Region25 – 11490Alpha-1
Region115 – 20692Alpha-2
Region207 – 29892Alpha-3
Region299 – 31719Connecting peptide

Amino acid modifications

Glycosylation1101N-linked (GlcNAc...) Ref.7
Disulfide bond125 ↔ 188 By similarity
Disulfide bond227 ↔ 283 By similarity

Natural variations

Natural variant7 – 82QA → RT in allele Cw*17:02.
VAR_016648
Natural variant101L → I in allele Cw*17:02.
VAR_016649
Natural variant241A → T in allele Cw*17:03.
VAR_016650
Natural variant731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_056512
Natural variant761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056513
Natural variant901K → N.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_056514
Natural variant971A → T.
Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
VAR_056515
Natural variant2721V → M.
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_056516

Sequences

Sequence LengthMass (Da)Tools
Q95604 [UniParc].

Last modified February 1, 1997. Version 1.
Checksum: D5DDCE6361D93AA2

FASTA37241,238
        10         20         30         40         50         60 
MRVMAPQALL LLLSGALALI ETWAGSHSMR YFYTAVSRPG RGEPRFIAVG YVDDTQFVRF 

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

       130        140        150        160        170        180 
RMYGCDLGPD GRLLRGYNQF AYDGKDYIAL NEDLRSWTAA DTAAQISQRK LEAAREAEQL 

       190        200        210        220        230        240 
RAYLEGECVE WLRGYLENGK ETLQRAERPK THVTHHPVSD HEATLRCWAL GFYPAEITLT 

       250        260        270        280        290        300 
WQRDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGQEQR YTCHVQHEGL QEPCTLRWKP 

       310        320        330        340        350        360 
SSQPTIPNLG IVSGPAVLAV LAVLAVLAVL GAVVAAVIHR RKSSGGKGGS CSQAASSNSA 

       370 
QGSDESLIAC KA 

« Hide

References

« Hide 'large scale' references
[1]"Cw*1701 defines a divergent african HLA-C allelic lineage."
Wells R.S., Seielstad M.T., Bunce M., Tyan D.B., Bekele E., Parham P.
Immunogenetics 46:173-180(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*17:01).
[2]"The complete primary structure of Cw*1701 reveals a highly divergent HLA class I molecule."
Herrero M.J., Vilches C., de Pablo R., Puente S., Kreisler M.
Tissue Antigens 49:267-270(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*17:01).
[3]"Cloning and sequencing full-length HLA-B and -C genes."
Cox S.T., McWhinnie A.J., Robinson J., Marsh S.G.E., Parham P., Madrigal J.A., Little A.-M.
Tissue Antigens 61:20-48(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*17:01).
[4]"HLA-C locus polymorphisms in Japanese."
Wang H., Tokunaga K.
Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-289 (ALLELE CW*17:02).
Tissue: Peripheral blood.
[5]"There is more to HLA -C than exons 2 and 3: sequencing exons 1, 4 and 5."
van der Vlies S.A., Voorter C.E., van den Berg-Loonen E.M.
Tissue Antigens 54:169-177(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-338 (ALLELE CW*17:03).
[6]"Nucleotide sequence analysis of HLA-Cw blank alleles from seven B cell lines."
Yang S., Cereb N.
Submitted (APR-1994) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 26-298 (ALLELE CW*17:01).
Tissue: Blood.
[7]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-110.
Tissue: Liver.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U62824 mRNA. Translation: AAB67322.1.
X98742 mRNA. Translation: CAA67294.1.
Y10520 mRNA. Translation: CAA71531.1.
AJ420252 Genomic DNA. Translation: CAD12437.1.
D64149 mRNA. Translation: BAA20857.1.
Y18537 expand/collapse EMBL AC list , Y18538, Y18539, Y18540, Y18541 Genomic DNA. Translation: CAB71837.1.
U06835 mRNA. Translation: AAA17674.1.
PIRA59028.
UniGeneHs.656020.
Hs.743218.
Hs.77961.

3D structure databases

ProteinModelPortalQ95604.
SMRQ95604. Positions 26-298.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ95604. 1 interaction.

Polymorphism databases

DMDM34395506.

Proteomic databases

MaxQBQ95604.
PaxDbQ95604.
PRIDEQ95604.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000400341; ENSP00000383195; ENSG00000206435.
ENST00000400394; ENSP00000383244; ENSG00000206452.

Organism-specific databases

GeneCardsGC06M031236.
GC06Mn31226.
GC06Mo31229.
HGNCHGNC:4933. HLA-C.
MIM142840. gene.
neXtProtNX_Q95604.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42056.
HOVERGENHBG016709.
PhylomeDBQ95604.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

CleanExHS_HLA-C.
GenevestigatorQ95604.

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 name1C17_HUMAN
AccessionPrimary (citable) accession number: Q95604
Secondary accession number(s): O02864 expand/collapse secondary AC list , O02958, Q29643, Q9MY30
Entry history
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: February 1, 1997
Last modified: July 9, 2014
This is version 112 of the entry and version 1 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