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P30499 (1C01_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. 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-1 alpha chain
Alternative name(s):
MHC class I antigen Cw*1
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-1 are known: Cw*01:01 (Cw1.1), Cw*01:02 (Cw1.2), Cw*01:03 and Cw*01:04. The sequence shown is that of Cw*01:01.

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 endogenous peptide antigen via MHC class I via ER pathway, TAP-independent

Inferred from direct assay PubMed 22031944. Source: UniProt

antigen 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

immune response

Non-traceable author statement Ref.4. Source: UniProtKB

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 direct assay PubMed 22031944. Source: UniProt

cell surface

Inferred from direct assay PubMed 22031944. 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

integral component of plasma membrane

Non-traceable author statement Ref.4. Source: UniProtKB

phagocytic vesicle membrane

Traceable author statement. Source: Reactome

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionTAP binding

Inferred from direct assay PubMed 8617941. Source: UniProt

peptide antigen binding

Inferred from direct assay PubMed 22031944. Source: UniProt

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424
Chain25 – 366342HLA class I histocompatibility antigen, Cw-1 alpha chain
PRO_0000018868

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 variant51E → A in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016544
Natural variant431E → K.
Corresponds to variant rs1050438 [ dbSNP | Ensembl ].
VAR_056454
Natural variant481S → A.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061444
Natural variant481S → P.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061445
Natural variant481S → T.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061446
Natural variant731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_056455
Natural variant761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056456
Natural variant901K → N.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_056457
Natural variant921N → K in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016545
Natural variant1381D → N in allele Cw*01:03.
VAR_016546
Natural variant1401Y → F in allele Cw*01:03.
VAR_016547
Natural variant1401Y → S in allele Cw*01:04.
VAR_016548
Natural variant1791E → Q in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016549
Natural variant1801R → W in allele Cw*01:04.
VAR_016550
Natural variant2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056458
Natural variant2021S → T in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016551
Natural variant2431W → R in allele Cw*01:04.
VAR_016552
Natural variant2721M → V in allele Cw*01:04.
VAR_016553
Natural variant3281V → M in allele Cw*01:04.
VAR_016554
Natural variant3641S → C in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016555

Sequences

Sequence LengthMass (Da)Tools
P30499 [UniParc].

Last modified April 1, 1993. Version 1.
Checksum: 285CCFCB92788744

FASTA36640,965
        10         20         30         40         50         60 
MRVMEPRTLI LLLSGALALT ETWACSHSMK YFFTSVSRPG RGEPRFISVG YVDDTQFVRF 

        70         80         90        100        110        120 
DSDAASPRGE PRAPWVEQEG PEYWDRETQK YNRQAQTDRV SLRNLRGYYN QSEAGSHTLQ 

       130        140        150        160        170        180 
WMCGCDLGPD GRLLRGYDQY AYDGKDYIAL NEDLRSWTAA DTAAQITQRK WEAAREAEER 

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

       250        260        270        280        290        300 
WQWDGEDQTQ DTELVETRPA GDGTFQKWAA VMVPSGEEQR YTCHVQHEGL PEPLTLRWEP 

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


LIASKA 

« Hide

References

[1]"Complete nucleotide sequence of a unique HLA class I C locus product expressed on the human choriocarcinoma cell line BeWo."
Ellis S.A., Strachan T., Palmer M.S., McMichael A.J.
J. Immunol. 142:3281-3285(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:01).
[2]"Isolation, expression, and the primary structure of HLA-Cw1 and HLA-Cw2 genes: evolutionary aspects."
Gussow D., Rein R.S., Meijer I., de Hoog W., Seemann G.H., Hochstenbach F.M., Ploegh H.L.
Immunogenetics 25:313-322(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*01:02).
[3]Erratum
Gussow D., Rein R.S., Meijer I., de Hoog W., Seemann G.H., Hochstenbach F.M., Ploegh H.L.
Immunogenetics 27:158-158(1988)
[4]"The molecular basis for reactivity of anti-Cw1 and anti-Cw3 alloantisera with HLA-B46 haplotypes."
Zemmour J., Gumperz J.E., Hildebrand W.H., Ward F.E., Marsh S.G.E., Williams R.C., Parham P.
Tissue Antigens 39:249-257(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:02).
[5]"HLA class I alleles of LCL 721 and 174 x CEM.T2 (T2)."
Steinle A., Schendel D.J.
Tissue Antigens 44:268-270(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-206 (ALLELE CW*01:02).
[6]"Cw*0103, a new allele encoding for a novel HLA-Cw1 split in the Japanese population."
Wang H., Nakajima F., Tokunaga K., Kashiwase K., Ishikawa Y., Juji T.
Tissue Antigens 51:571-573(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:03).
Tissue: Peripheral blood.
[7]"Full length sequencing of a new Cw*01 variant allele."
Day S.
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*01:04).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M26429 mRNA. Translation: AAA59701.1.
M16272 Genomic DNA. Translation: AAA59700.1.
M84171 mRNA. Translation: AAA59685.1.
Z46809 mRNA. Translation: CAA86839.1.
D64145 mRNA. Translation: BAA19531.1.
AJ133100 Genomic DNA. Translation: CAB38942.1.
PIRI37528.
I54430.
I59622.
UniGeneHs.656020.
Hs.743218.
Hs.77961.

3D structure databases

ProteinModelPortalP30499.
SMRP30499. Positions 26-298.
ModBaseSearch...
MobiDBSearch...

Polymorphism databases

DMDM231423.

Proteomic databases

PaxDbP30499.
PRIDEP30499.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000438171; ENSP00000393374; ENSG00000237022.

Organism-specific databases

GeneCardsGC06M031236.
GC06Ml31280.
HGNCHGNC:4933. HLA-C.
MIM142840. gene.
neXtProtNX_P30499.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42056.
HOVERGENHBG016709.
PhylomeDBP30499.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

CleanExHS_HLA-C.
GenevestigatorP30499.

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 name1C01_HUMAN
AccessionPrimary (citable) accession number: P30499
Secondary accession number(s): O02865 expand/collapse secondary AC list , O19676, P30500, Q29986, Q9UQS9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: July 9, 2014
This is version 115 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