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

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	366 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 process	Host-virus interaction Immunity
Cellular component	MHC I Membrane
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	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 interferon-gamma-mediated signaling pathway Traceable author statement. Source: Reactome regulation of immune response Traceable author statement. Source: Reactome type I interferon-mediated signaling pathway Traceable author statement. Source: Reactome virus-host interaction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	ER to Golgi transport vesicle membrane Traceable author statement. Source: Reactome Golgi membrane Traceable author statement. Source: Reactome MHC class I protein complex Inferred from electronic annotation. Source: UniProtKB-KW early endosome membrane Traceable author statement. Source: Reactome integral to lumenal side of endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to plasma membrane Non-traceable author statement Ref.2Ref.1. Source: UniProtKB phagocytic vesicle membrane Traceable author statement. Source: Reactome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24
	Chain	25 – 366	342	HLA class I histocompatibility antigen, Cw-12 alpha chain		PRO_0000018876
Regions
	Topological domain	25 – 308	284	Extracellular Potential
	Transmembrane	309 – 333	25	Helical; Potential
	Topological domain	334 – 366	33	Cytoplasmic Potential
	Domain	209 – 297	89	Ig-like C1-type
	Region	25 – 114	90	Alpha-1
	Region	115 – 206	92	Alpha-2
	Region	207 – 298	92	Alpha-3
	Region	299 – 308	10	Connecting peptide
Amino acid modifications
	Glycosylation	110	1	N-linked (GlcNAc...) By similarity
	Disulfide bond	125 ↔ 188		By similarity
	Disulfide bond	227 ↔ 283		By similarity
Natural variations
	Natural variant	73	1	A → E. Corresponds to variant rs1050409 [ dbSNP | Ensembl ].		VAR_056487
	Natural variant	76	1	V → M. Corresponds to variant rs1065382 [ dbSNP | Ensembl ].		VAR_056488
	Natural variant	90	1	K → N in allele Cw*12:08. Corresponds to variant rs28626310 [ dbSNP | Ensembl ].		VAR_016622
	Natural variant	97	1	A → T in allele Cw*12:05 and allele Cw*12:09. Corresponds to variant rs41543814 [ dbSNP | Ensembl ].		VAR_016623
	Natural variant	101	1	S → G in allele Cw*12:07.		VAR_016624
	Natural variant	101	1	S → N in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09. Corresponds to variant rs2308557 [ dbSNP | Ensembl ].		VAR_016625
	Natural variant	104	1	N → K in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09. Corresponds to variant rs17408553 [ dbSNP | Ensembl ].		VAR_016626
	Natural variant	121	1	R → 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 variant	137	1	Y → H. Corresponds to variant rs2308574 [ dbSNP | Ensembl ].		VAR_056489
	Natural variant	144	1	G → V in allele Cw*12:06.		VAR_016628
	Natural variant	180	1	W → R in allele Cw*12:09.		VAR_016629
	Natural variant	182	1	A → V. Corresponds to variant rs1059539 [ dbSNP | Ensembl ].		VAR_056490
	Natural variant	201	1	E → K. Corresponds to variant rs1131103 [ dbSNP | Ensembl ].		VAR_056491
	Natural variant	208	1	H → P. Ref.17		VAR_054155
	Natural variant	272	1	V → M. Corresponds to variant rs1050276 [ dbSNP | Ensembl ].		VAR_056492
	Natural variant	363	1	A → T. Ref.17		VAR_054156
Experimental info
	Sequence conflict	25	1	C → G Ref.1
	Sequence conflict	140	1	S → V in AAA59847. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P30508 [UniParc]. Last modified August 22, 2003. Version 2. Checksum: 598C8795CD033FB7	FASTA	366	40,886
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00743716.
PIR	A59028. I37526. I38507. I54449. I72113.
UniGene	Hs.654404. Hs.656020.
3D structure databases
ProteinModelPortal	P30508.
ModBase	Search...
Protein-protein interaction databases
IntAct	P30508. 7 interactions.
Polymorphism databases
DMDM	34223723.
Proteomic databases
PaxDb	P30508.
PRIDE	P30508.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000420206; ENSP00000410214; ENSG00000228299.
Organism-specific databases
GeneCards	GC06M031236. GC06Mk31228.
HGNC	HGNC:4933. HLA-C.
MIM	142840. gene.
neXtProt	NX_P30508.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG42056.
HOVERGEN	HBG016709.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	P30508.
CleanEx	HS_HLA-C.
Genevestigator	P30508.
Family and domain databases
Gene3D	2.60.40.10. 1 hit. 3.30.500.10. 1 hit.
InterPro	IPR007110. 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]
Pfam	PF07654. C1-set. 1 hit. PF00129. MHC_I. 1 hit. PF06623. MHC_I_C. 1 hit. [Graphical view]
PRINTS	PR01638. MHCCLASSI.
SMART	SM00407. IGc1. 1 hit. [Graphical view]
SUPFAM	SSF54452. MHC_I/II-like_Ag-recog. 1 hit.
PROSITE	PS50835. IG_LIKE. 1 hit. PS00290. IG_MHC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	HLA-C. human.
SOURCE	Search...

Entry information

Entry name

1C12_HUMAN

Accession

Primary (citable) accession number: P30508
Secondary accession number(s): O02863 , 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:	May 1, 2013
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.