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P30508 (1C12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. 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-12 alpha chain
Alternative name(s):
MHC class I antigen Cw*12
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-12 are known: Cw*12:02, Cw*12:03, Cw*12:04, Cw*12:05, Cw*12:06, Cw*12:07, Cw*12:08 and Cw*12:09. The sequence shown is that of Cw*12:02.

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

immune response

Non-traceable author statement Ref.2Ref.1. 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 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

integral component of plasma membrane

Non-traceable author statement Ref.2Ref.1. Source: UniProtKB

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 – 366342HLA class I histocompatibility antigen, Cw-12 alpha chain
PRO_0000018876

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 variant731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_056487
Natural variant761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056488
Natural variant901K → N in allele Cw*12:08.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_016622
Natural variant971A → T in allele Cw*12:05 and allele Cw*12:09.
Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
VAR_016623
Natural variant1011S → G in allele Cw*12:07.
VAR_016624
Natural variant1011S → N in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09.
Corresponds to variant rs2308557 [ dbSNP | Ensembl ].
VAR_016625
Natural variant1041N → K in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09.
Corresponds to variant rs17408553 [ dbSNP | Ensembl ].
VAR_016626
Natural variant1211R → W in allele Cw*12:03, allele Cw*12:04, allele Cw*12:05, allele Cw*12:06, allele Cw*12:07 and allele Cw*12:09.
VAR_016627
Natural variant1371Y → H.
Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
VAR_056489
Natural variant1441G → V in allele Cw*12:06.
VAR_016628
Natural variant1801W → R in allele Cw*12:09.
VAR_016629
Natural variant1821A → V.
Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
VAR_056490
Natural variant2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056491
Natural variant2081H → P. Ref.17
VAR_054155
Natural variant2721V → M.
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_056492
Natural variant3631A → T. Ref.17
VAR_054156

Experimental info

Sequence conflict251C → G Ref.1
Sequence conflict1401S → V in AAA59847. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P30508 [UniParc].

Last modified August 22, 2003. Version 2.
Checksum: 598C8795CD033FB7

FASTA36640,886
        10         20         30         40         50         60 
MRVMAPRTLI LLLSGALALT ETWACSHSMR YFYTAVSRPG RGEPRFIAVG YVDDTQFVRF 

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

       130        140        150        160        170        180 
RMYGCDLGPD 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

« Hide 'large scale' references
[1]"Cloning and analysis of HLA class I cDNA encoding a new HLA-C specificity Cx52."
Takata H., Inoko H., Ando A., Haranaka M., Watanabe B., Tsuji K., Iri H.
Immunogenetics 28:265-270(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:02).
[2]"The structure and expression of genes encoding serologically undetected HLA-C locus antigens."
Takiguchi M., Nishimura I., Hayashi H., Karaki S., Kariyone A., Kano K.
J. Immunol. 143:1372-1378(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*12:02).
[3]"Molecular cloning and polymerase chain reaction-sequence-specific oligonucleotide detection of the allele encoding the novel allospecificity HLA-Cw6.2 (Cw*1502) in Spanish gypsies."
Vilches C., de Pablo R., Herrero M.J., Moreno M.E., Kreisler M.
Hum. Immunol. 37:259-263(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:02).
[4]"HLA-C alleles in Japanese and a novel allele from a non-Japanese individual."
Wang H., Tokunaga K.
Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE OF 1-298 (ALLELE CW*12:02).
Tissue: Peripheral blood.
[5]"An HLA-Cw allele detected by PCR-SSO."
Greville W.D., Ng G., Kennedy A., Kennedy C.T., Le T., Dodd R., Wallace R., Dunckley H.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*12:02).
[6]"Identification of two new HLA-C alleles, Cw*1203 and Cw*1402, from the sequence analysis of seven HLA homozygous cell lines carrying HLA-C blank."
Cereb N., Choi J.W., Lee S., Maye P., Kong Y., Yang S.Y.
Tissue Antigens 44:193-195(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:03).
Tissue: Blood.
[7]Pablo R.
Submitted (OCT-1994) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*12:03).
[8]"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 (ALLELE CW*12:03).
[9]"HLA-C locus polymorphisms in Japanese."
Wang H., Tokunaga K.
Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE OF 1-298 (ALLELE CW*12:03).
Tissue: Peripheral blood.
[10]"A new pair of HLA-C alleles, Cw*12042 and Cw*1203, differing at the KIR-related dimorphism of codons 77-80."
Vilches C., Bunce M., van Dam M., de Pablo R.
Tissue Antigens 51:101-105(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:04).
[11]Tatari Z.
Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE OF 1-227 (ALLELE CW*12:04).
[12]"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 (ALLELES CW*12:04 AND CW*12:06).
[13]"Sequence of four new HLA-Cw alleles: a possible role of interallelic recombination."
Grundschober C., Labonne M., Javaux F., Steiner Q.G., Gebuhrer L., Tiercy J.-M.
Tissue Antigens 51:72-79(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ALLELE CW*12:05).
[14]"Nucleotide sequence of an HLA-Cw*1203 variant allele with a new polymorphic position in exon 2."
Davey S., Dunn P.P.
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*12:07).
[15]"Sequence of two new HLA-Cw alleles: HLA-Cw*0313 and HLA-Cw*1208."
Cox S.T., Ogilvie H., Bohan E.M., Holman R., Prentice H.G., Potter M., Madrigal J.A., Little A.-M.
Tissue Antigens 59:49-51(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*12:08).
[16]"Identification of confirmatory sequence of Cw*1209."
Day S., Carter V.
Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*12:09).
[17]"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. expand/collapse author list , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K.
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-208 AND THR-363.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M21963 mRNA. Translation: AAA59847.1.
M28172 Genomic DNA. Translation: AAA59670.1.
X70856 mRNA. Translation: CAA50209.1.
X70857 mRNA. Translation: CAA50210.1.
D64152 mRNA. Translation: BAA19537.1.
D83741 mRNA. Translation: BAA32615.1.
AH008326 Genomic DNA. Translation: AAF04581.1.
U06695 mRNA. Translation: AAA92995.1.
U06696 mRNA. Translation: AAA92996.1.
X82122 mRNA. Translation: CAA57634.1.
AJ420248 Genomic DNA. Translation: CAD12433.1.
D64146 mRNA. Translation: BAA19532.1.
Y11843 mRNA. Translation: CAA72592.1.
X99704 mRNA. Translation: CAA68035.1.
AH006134 Genomic DNA. Translation: AAC17724.1.
AH006135 Genomic DNA. Translation: AAC17725.1.
Z83247 mRNA. Translation: CAB05845.1.
Z80228 Genomic DNA. Translation: CAB02409.1.
AJ249163 Genomic DNA. Translation: CAB53538.1.
AJ249164 Genomic DNA. Translation: CAB53539.1.
AJ304496 Genomic DNA. Translation: CAC19018.1.
AJ550622 Genomic DNA. Translation: CAD79471.1.
AJ550623 Genomic DNA. Translation: CAD79472.1.
PIRA59028.
I37526.
I38507.
I54449.
I72113.
UniGeneHs.656020.
Hs.743218.
Hs.77961.

3D structure databases

ProteinModelPortalP30508.
SMRP30508. Positions 26-302.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActP30508. 7 interactions.

Polymorphism databases

DMDM34223723.

Proteomic databases

MaxQBP30508.
PaxDbP30508.
PRIDEP30508.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000420206; ENSP00000410214; ENSG00000228299.

Organism-specific databases

GeneCardsGC06M031236.
GC06Mk31228.
HGNCHGNC:4933. HLA-C.
MIM142840. gene.
neXtProtNX_P30508.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42056.
HOVERGENHBG016709.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

CleanExHS_HLA-C.
GenevestigatorP30508.

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 name1C12_HUMAN
AccessionPrimary (citable) accession number: P30508
Secondary accession number(s): O02863 expand/collapse secondary AC list , O19652, O62882, O78062, O78166, O78211, O78214, P30509, Q29768, Q31627, Q860R1, Q860R2, Q99528, Q9GIK4, Q9TPS4, Q9UM32, Q9UM33
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: August 22, 2003
Last modified: July 9, 2014
This is version 124 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