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HLA class I histocompatibility antigen, Cw-14 alpha chain (MHC class I antigen Cw*14)

 1C14_HUMAN              Reviewed;         366 AA.
P30510; O62879; O78178; Q29641; Q30192; Q9MY35; Q9TQJ5;
01-APR-1993, integrated into UniProtKB/Swiss-Prot.
29-AUG-2003, sequence version 2.
30-AUG-2017, entry version 138.
RecName: Full=HLA class I histocompatibility antigen, Cw-14 alpha chain;
AltName: Full=MHC class I antigen Cw*14;
Flags: Precursor;
Name=HLA-C; Synonyms=HLAC;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*14:02), AND VARIANT
MET-272.
PubMed=2787363;
Takiguchi M., Nishimura I., Hayashi H., Karaki S., Kariyone A.,
Kano K.;
"The structure and expression of genes encoding serologically
undetected HLA-C locus antigens.";
J. Immunol. 143:1372-1378(1989).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*14:02).
TISSUE=Blood;
PubMed=7839353; DOI=10.1111/j.1399-0039.1994.tb02379.x;
Cereb N., Choi J.W., Lee S., Maye P., Kong Y., Yang S.Y.;
"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.";
Tissue Antigens 44:193-195(1994).
[3]
NUCLEOTIDE SEQUENCE (ALLELE CW*14:02).
Zhang L., Ellexson M.E., Hildebrand W.H.;
Submitted (NOV-1995) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 26-298 (ALLELE CW*14:02).
TISSUE=Blood;
PubMed=8795149; DOI=10.1111/j.1399-0039.1996.tb02584.x;
Wang H., Tokunaga K., Ogawa A., Akaza T., Tadokoro K., Takiguchi M.,
Shibata Y., Juji T.;
"DNA typing of Cw*14 alleles in Japanese and the corrected sequence of
Cw*1402.";
Tissue Antigens 47:442-446(1996).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*14:02).
PubMed=9686604;
Turner S., Ellexson M.E., Hickman H.D., Sidebottom D.A.,
Fernandez-Vina M., Confer D.L., Hildebrand W.H.;
"Sequence-based typing provides a new look at HLA-C diversity.";
J. Immunol. 161:1406-1413(1998).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*14:03).
TISSUE=Blood;
PubMed=7499177; DOI=10.1016/0198-8859(95)00041-2;
Wang H., Tokunaga K., Ishikawa Y., Lin L., Kashiwase K., Nakajima F.,
Ogawa A., Kuwata S., Akaza T., Tadokoro K., Shibata Y., Yoshikura H.,
Juji T.;
"A new HLA-C allele, Cw*1403, associated with HLA-B44 in Japanese.";
Hum. Immunol. 43:295-300(1995).
[7]
NUCLEOTIDE SEQUENCE (ALLELE CW*14:03).
PubMed=12622774; DOI=10.1034/j.1399-0039.2003.610103.x;
Cox S.T., McWhinnie A.J., Robinson J., Marsh S.G.E., Parham P.,
Madrigal J.A., Little A.-M.;
"Cloning and sequencing full-length HLA-B and -C genes.";
Tissue Antigens 61:20-48(2003).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*14:04).
PubMed=10912513; DOI=10.1007/s002510000178;
Santos S., Vicario J.L., Aviles M.J., Garcia-Sanchez F., Balas A.;
"HLA-Cw*1404: a new HLA-C allele with a hybrid 77Asn-80Asn NK motif.";
Immunogenetics 51:610-612(2000).
[9]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[10]
VARIANT [LARGE SCALE ANALYSIS] MET-272, AND IDENTIFICATION BY MASS
SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=25944712; DOI=10.1002/pmic.201400617;
Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
"N-terminome analysis of the human mitochondrial proteome.";
Proteomics 15:2519-2524(2015).
-!- FUNCTION: Involved in the presentation of foreign antigens to the
immune system.
-!- SUBUNIT: Heterodimer of an alpha chain and a beta chain (beta-2-
microglobulin). Interacts with human herpesvirus 8 MIR1 protein
(By similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
protein.
-!- PTM: 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).
{ECO:0000250}.
-!- POLYMORPHISM: The following alleles of Cw-14 are known: Cw*14:02
(CB-1), Cw*14:03 (CX44) and Cw*14:04. The sequence shown is that
of Cw*14:02.
-!- SIMILARITY: Belongs to the MHC class I family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; M28171; AAA59669.1; -; Genomic_DNA.
EMBL; U06487; AAA92994.1; -; mRNA.
EMBL; U41386; AAC32743.1; -; mRNA.
EMBL; D49820; BAA89793.1; -; mRNA.
EMBL; AH006136; AAC17726.1; -; Genomic_DNA.
EMBL; D31817; BAA06604.1; -; mRNA.
EMBL; AJ420249; CAD12434.1; -; Genomic_DNA.
EMBL; AH007516; AAD21014.1; -; Genomic_DNA.
PIR; I56034; I56034.
UniGene; Hs.656020; -.
UniGene; Hs.743218; -.
ProteinModelPortal; P30510; -.
SMR; P30510; -.
IntAct; P30510; 4.
SwissPalm; P30510; -.
MaxQB; P30510; -.
PeptideAtlas; P30510; -.
PRIDE; P30510; -.
Ensembl; ENST00000438171; ENSP00000393374; ENSG00000237022.
DisGeNET; 3107; -.
GeneCards; HLA-C; -.
HGNC; HGNC:4933; HLA-C.
MalaCards; HLA-C; -.
MIM; 142840; gene.
neXtProt; NX_P30510; -.
HOVERGEN; HBG016709; -.
Reactome; R-HSA-1236974; ER-Phagosome pathway.
Reactome; R-HSA-1236977; Endosomal/Vacuolar pathway.
Reactome; R-HSA-198933; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
Reactome; R-HSA-877300; Interferon gamma signaling.
Reactome; R-HSA-909733; Interferon alpha/beta signaling.
Reactome; R-HSA-983170; Antigen Presentation: Folding, assembly and peptide loading of class I MHC.
ChiTaRS; HLA-C; human.
Proteomes; UP000005640; Chromosome 6.
CleanEx; HS_HLA-C; -.
GO; GO:0009986; C:cell surface; ISS:UniProtKB.
GO; GO:0031901; C:early endosome membrane; TAS:Reactome.
GO; GO:0005783; C:endoplasmic reticulum; ISS:UniProtKB.
GO; GO:0012507; C:ER to Golgi transport vesicle membrane; TAS:Reactome.
GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
GO; GO:0000139; C:Golgi membrane; TAS:Reactome.
GO; GO:0071556; C:integral component of lumenal side of endoplasmic reticulum membrane; TAS:Reactome.
GO; GO:0005887; C:integral component of plasma membrane; NAS:UniProtKB.
GO; GO:0042612; C:MHC class I protein complex; ISS:UniProtKB.
GO; GO:0030670; C:phagocytic vesicle membrane; TAS:Reactome.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0055038; C:recycling endosome membrane; TAS:Reactome.
GO; GO:0042605; F:peptide antigen binding; ISS:UniProtKB.
GO; GO:0002479; P:antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; TAS:Reactome.
GO; GO:0002480; P:antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; TAS:Reactome.
GO; GO:0002474; P:antigen processing and presentation of peptide antigen via MHC class I; TAS:Reactome.
GO; GO:0006955; P:immune response; NAS:UniProtKB.
GO; GO:0060333; P:interferon-gamma-mediated signaling pathway; TAS:Reactome.
GO; GO:0050776; P:regulation of immune response; TAS:Reactome.
GO; GO:0060337; P:type I interferon signaling pathway; TAS:Reactome.
GO; GO:0016032; P:viral process; IEA:UniProtKB-KW.
Gene3D; 2.60.40.10; -; 1.
Gene3D; 3.30.500.10; -; 1.
InterPro; IPR007110; Ig-like_dom.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR003006; Ig/MHC_CS.
InterPro; IPR003597; Ig_C1-set.
InterPro; IPR011161; MHC_I-like_Ag-recog.
InterPro; IPR011162; MHC_I/II-like_Ag-recog.
InterPro; IPR001039; MHC_I_a_a1/a2.
InterPro; IPR010579; MHC_I_a_C.
Pfam; PF07654; C1-set; 1.
Pfam; PF00129; MHC_I; 1.
Pfam; PF06623; MHC_I_C; 1.
PRINTS; PR01638; MHCCLASSI.
SMART; SM00407; IGc1; 1.
SUPFAM; SSF48726; SSF48726; 1.
SUPFAM; SSF54452; SSF54452; 1.
PROSITE; PS50835; IG_LIKE; 1.
PROSITE; PS00290; IG_MHC; 1.
1: Evidence at protein level;
Complete proteome; Disulfide bond; Glycoprotein;
Host-virus interaction; Immunity; Membrane; MHC I; Polymorphism;
Reference proteome; Signal; Transmembrane; Transmembrane helix;
Ubl conjugation.
SIGNAL 1 24
CHAIN 25 366 HLA class I histocompatibility antigen,
Cw-14 alpha chain.
/FTId=PRO_0000018877.
TOPO_DOM 25 308 Extracellular. {ECO:0000255}.
TRANSMEM 309 333 Helical. {ECO:0000255}.
TOPO_DOM 334 366 Cytoplasmic. {ECO:0000255}.
DOMAIN 209 297 Ig-like C1-type.
REGION 25 114 Alpha-1.
REGION 115 206 Alpha-2.
REGION 207 298 Alpha-3.
REGION 299 308 Connecting peptide.
CARBOHYD 110 110 N-linked (GlcNAc...) asparagine.
{ECO:0000250}.
DISULFID 125 188 {ECO:0000255|PROSITE-ProRule:PRU00114}.
DISULFID 227 283 {ECO:0000255|PROSITE-ProRule:PRU00114}.
VARIANT 45 45 R -> H (in allele Cw*14:03).
/FTId=VAR_016636.
VARIANT 73 73 A -> E (in dbSNP:rs1050409).
/FTId=VAR_056493.
VARIANT 76 76 V -> M (in dbSNP:rs1065382).
/FTId=VAR_056494.
VARIANT 90 90 K -> N (in dbSNP:rs28626310).
/FTId=VAR_056495.
VARIANT 97 97 T -> A (in allele Cw*14:04).
/FTId=VAR_016637.
VARIANT 101 101 S -> N (in allele Cw*14:03).
/FTId=VAR_016638.
VARIANT 137 137 Y -> H (in dbSNP:rs2308574).
/FTId=VAR_056496.
VARIANT 182 182 A -> V (in dbSNP:rs1059539).
/FTId=VAR_056497.
VARIANT 201 201 E -> K (in dbSNP:rs1131103).
/FTId=VAR_056498.
VARIANT 272 272 V -> M (in dbSNP:rs1050276).
{ECO:0000244|PubMed:25944712,
ECO:0000269|PubMed:2787363}.
/FTId=VAR_056499.
CONFLICT 16 16 A -> T (in Ref. 2; AAA92994).
{ECO:0000305}.
CONFLICT 43 43 E -> G (in Ref. 2; AAA92994).
{ECO:0000305}.
CONFLICT 202 202 T -> S (in Ref. 1; AAA59669).
{ECO:0000305}.
SEQUENCE 366 AA; 40838 MW; 792D335D12D6547E CRC64;
MRVMAPRTLI LLLSGALALT ETWACSHSMR YFSTSVSRPG RGEPRFIAVG YVDDTQFVRF
DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQTDRV SLRNLRGYYN QSEAGSHTLQ
WMFGCDLGPD GRLLRGYDQS AYDGKDYIAL NEDLRSWTAA DTAAQITQRK WEAAREAEQR
RAYLEGTCVE WLRRYLENGK ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT
WQWDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWEP
SSQPTIPIVG IVAGLAVLAV LAVLGAVVAV VMCRRKSSGG KGGSCSQAAS SNSAQGSDES
LIACKA


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