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HLA class I histocompatibility antigen, Cw-17 alpha chain (MHC class I antigen Cw*17)

 1C17_HUMAN              Reviewed;         372 AA.
Q95604; O02864; O02958; Q29643; Q9MY30;
29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
01-FEB-1997, sequence version 1.
13-FEB-2019, entry version 145.
RecName: Full=HLA class I histocompatibility antigen, Cw-17 alpha chain;
AltName: Full=MHC class I antigen Cw*17;
Flags: Precursor;
Name=HLA-C; Synonyms=D6S204, HLA-JY3, HLAC;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*17:01).
PubMed=9211742; DOI=10.1007/s002510050259;
Wells R.S., Seielstad M.T., Bunce M., Tyan D.B., Bekele E., Parham P.;
"Cw*1701 defines a divergent african HLA-C allelic lineage.";
Immunogenetics 46:173-180(1997).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*17:01).
PubMed=9098935; DOI=10.1111/j.1399-0039.1997.tb02749.x;
Herrero M.J., Vilches C., de Pablo R., Puente S., Kreisler M.;
"The complete primary structure of Cw*1701 reveals a highly divergent
HLA class I molecule.";
Tissue Antigens 49:267-270(1997).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*17:01).
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).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-289 (ALLELE CW*17:02).
TISSUE=Peripheral blood;
Wang H., Tokunaga K.;
"HLA-C locus polymorphisms in Japanese.";
Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-338 (ALLELE CW*17:03).
PubMed=10488744; DOI=10.1034/j.1399-0039.1999.540208.x;
van der Vlies S.A., Voorter C.E., van den Berg-Loonen E.M.;
"There is more to HLA -C than exons 2 and 3: sequencing exons 1, 4 and
5.";
Tissue Antigens 54:169-177(1999).
[6]
NUCLEOTIDE SEQUENCE [MRNA] OF 26-298 (ALLELE CW*17:01).
TISSUE=Blood;
Yang S., Cereb N.;
"Nucleotide sequence analysis of HLA-Cw blank alleles from seven B
cell lines.";
Submitted (APR-1994) to the EMBL/GenBank/DDBJ databases.
[7]
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-110.
TISSUE=Liver;
PubMed=19159218; DOI=10.1021/pr8008012;
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
"Glycoproteomics analysis of human liver tissue by combination of
multiple enzyme digestion and hydrazide chemistry.";
J. Proteome Res. 8:651-661(2009).
[8]
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).
[9]
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). {ECO:0000250|UniProtKB:P01892}.
-!- INTERACTION:
P43626:KIR2DL1; NbExp=2; IntAct=EBI-6163558, EBI-8684277;
Q14953:KIR2DS5; NbExp=6; IntAct=EBI-6163558, EBI-16823921;
-!- 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: 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 (PubMed:9098935). 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. {ECO:0000269|PubMed:9098935}.
-!- SIMILARITY: Belongs to the MHC class I family. {ECO:0000305}.
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
Distributed under the Creative Commons Attribution (CC BY 4.0) License
-----------------------------------------------------------------------
EMBL; U62824; AAB67322.1; -; mRNA.
EMBL; X98742; CAA67294.1; -; mRNA.
EMBL; Y10520; CAA71531.1; -; mRNA.
EMBL; AJ420252; CAD12437.1; -; Genomic_DNA.
EMBL; D64149; BAA20857.1; -; mRNA.
EMBL; Y18537; CAB71837.1; -; Genomic_DNA.
EMBL; Y18538; CAB71837.1; JOINED; Genomic_DNA.
EMBL; Y18539; CAB71837.1; JOINED; Genomic_DNA.
EMBL; Y18540; CAB71837.1; JOINED; Genomic_DNA.
EMBL; Y18541; CAB71837.1; JOINED; Genomic_DNA.
EMBL; U06835; AAA17674.1; -; mRNA.
PIR; A59028; A59028.
UniGene; Hs.656020; -.
UniGene; Hs.743218; -.
ProteinModelPortal; Q95604; -.
SMR; Q95604; -.
IntAct; Q95604; 7.
GlyConnect; 1356; -.
iPTMnet; Q95604; -.
SwissPalm; Q95604; -.
BioMuta; HLA-C; -.
DMDM; 34395506; -.
EPD; Q95604; -.
jPOST; Q95604; -.
MaxQB; Q95604; -.
PeptideAtlas; Q95604; -.
PRIDE; Q95604; -.
Ensembl; ENST00000400341; ENSP00000383195; ENSG00000206435.
Ensembl; ENST00000400394; ENSP00000383244; ENSG00000206452.
DisGeNET; 3107; -.
GeneCards; HLA-C; -.
HGNC; HGNC:4933; HLA-C.
MalaCards; HLA-C; -.
MIM; 142840; gene.
neXtProt; NX_Q95604; -.
HOVERGEN; HBG016709; -.
InParanoid; Q95604; -.
PhylomeDB; Q95604; -.
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.
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:0009897; C:external side of plasma membrane; IBA:GO_Central.
GO; GO:0005615; C:extracellular space; IBA:GO_Central.
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:0042612; C:MHC class I protein complex; ISS:UniProtKB.
GO; GO:0030670; C:phagocytic vesicle membrane; TAS:Reactome.
GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
GO; GO:0055038; C:recycling endosome membrane; TAS:Reactome.
GO; GO:0042605; F:peptide antigen binding; ISS:UniProtKB.
GO; GO:0005102; F:signaling receptor binding; IBA:GO_Central.
GO; GO:0002486; P:antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent; IBA:GO_Central.
GO; GO:0002476; P:antigen processing and presentation of endogenous peptide antigen via MHC class Ib; IBA:GO_Central.
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; IBA:GO_Central.
GO; GO:0060333; P:interferon-gamma-mediated signaling pathway; TAS:Reactome.
GO; GO:0001916; P:positive regulation of T cell mediated cytotoxicity; IBA:GO_Central.
GO; GO:0050776; P:regulation of immune response; TAS:Reactome.
GO; GO:0060337; P:type I interferon signaling pathway; TAS:Reactome.
Gene3D; 2.60.40.10; -; 1.
Gene3D; 3.30.500.10; -; 1.
InterPro; IPR007110; Ig-like_dom.
InterPro; IPR036179; Ig-like_dom_sf.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR003006; Ig/MHC_CS.
InterPro; IPR003597; Ig_C1-set.
InterPro; IPR011161; MHC_I-like_Ag-recog.
InterPro; IPR037055; MHC_I-like_Ag-recog_sf.
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; Immunity; Membrane;
MHC I; Polymorphism; Reference proteome; Signal; Transmembrane;
Transmembrane helix; Ubl conjugation.
SIGNAL 1 24
CHAIN 25 372 HLA class I histocompatibility antigen,
Cw-17 alpha chain.
/FTId=PRO_0000018880.
TOPO_DOM 25 317 Extracellular. {ECO:0000255}.
TRANSMEM 318 338 Helical. {ECO:0000255}.
TOPO_DOM 339 372 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 299 317 Connecting peptide.
CARBOHYD 110 110 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19159218}.
DISULFID 125 188 {ECO:0000255|PROSITE-ProRule:PRU00114}.
DISULFID 227 283 {ECO:0000255|PROSITE-ProRule:PRU00114}.
VARIANT 7 8 QA -> RT (in allele Cw*17:02).
/FTId=VAR_016648.
VARIANT 10 10 L -> I (in allele Cw*17:02).
/FTId=VAR_016649.
VARIANT 24 24 A -> T (in allele Cw*17:03).
/FTId=VAR_016650.
VARIANT 73 73 A -> E (in dbSNP:rs1050409).
/FTId=VAR_056512.
VARIANT 76 76 V -> M (in dbSNP:rs1065382).
/FTId=VAR_056513.
VARIANT 90 90 K -> N (in dbSNP:rs28626310).
/FTId=VAR_056514.
VARIANT 97 97 A -> T (in dbSNP:rs41543814).
/FTId=VAR_056515.
VARIANT 272 272 V -> M (in dbSNP:rs1050276).
/FTId=VAR_056516.
SEQUENCE 372 AA; 41238 MW; D5DDCE6361D93AA2 CRC64;
MRVMAPQALL LLLSGALALI ETWAGSHSMR YFYTAVSRPG RGEPRFIAVG YVDDTQFVRF
DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV NLRKLRGYYN QSEAGSHTIQ
RMYGCDLGPD GRLLRGYNQF AYDGKDYIAL NEDLRSWTAA DTAAQISQRK LEAAREAEQL
RAYLEGECVE WLRGYLENGK ETLQRAERPK THVTHHPVSD HEATLRCWAL GFYPAEITLT
WQRDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGQEQR YTCHVQHEGL QEPCTLRWKP
SSQPTIPNLG IVSGPAVLAV LAVLAVLAVL GAVVAAVIHR RKSSGGKGGS CSQAASSNSA
QGSDESLIAC KA


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Related Genes :
[HLA-C HLAC] HLA class I histocompatibility antigen, Cw-5 alpha chain (MHC class I antigen Cw*5)
[HLA-E HLA-6.2 HLAE] HLA class I histocompatibility antigen, alpha chain E (MHC class I antigen E) [Cleaved into: Soluble HLA class I histocompatibility antigen, alpha chain E (sHLA-E)]
[HLA-DPB1 HLA-DP1B] HLA class II histocompatibility antigen, DP beta 1 chain (HLA class II histocompatibility antigen, DP(W4) beta chain) (MHC class II antigen DPB1)
[HLA-DQA2 HLA-DXA] HLA class II histocompatibility antigen, DQ alpha 2 chain (DX alpha chain) (HLA class II histocompatibility antigen, DQ(6) alpha chain) (HLA-DQA1) (MHC class II DQA2)
[HLA-F HLA-5.4 HLAF] HLA class I histocompatibility antigen, alpha chain F (CDA12) (HLA F antigen) (Leukocyte antigen F) (MHC class I antigen F)
[HLA-DPA1 HLA-DP1A HLASB] HLA class II histocompatibility antigen, DP alpha 1 chain (DP(W3)) (DP(W4)) (HLA-SB alpha chain) (MHC class II DP3-alpha) (MHC class II DPA1)
[HLA-DRA HLA-DRA1] HLA class II histocompatibility antigen, DR alpha chain (MHC class II antigen DRA)
[HLA-DQB1 HLA-DQB] HLA class II histocompatibility antigen, DQ beta 1 chain (MHC class II antigen DQB1)
[HLA-DQB2 HLA-DXB] HLA class II histocompatibility antigen, DQ beta 2 chain (HLA class II histocompatibility antigen, DX beta chain) (MHC class II antigen DQB2)
[HLA-DQA1] HLA class II histocompatibility antigen, DQ alpha 1 chain (DC-1 alpha chain) (DC-alpha) (HLA-DCA) (MHC class II DQA1)
[HLA-A HLAA] HLA class I histocompatibility antigen, A-1 alpha chain (MHC class I antigen A*1)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-14 beta chain (MHC class II antigen DRB1*14) (DR-14) (DR14)
[HLA-B HLAB] HLA class I histocompatibility antigen, B-27 alpha chain (MHC class I antigen B*27)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-4 beta chain (MHC class II antigen DRB1*4) (DR-4) (DR4)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-12 beta chain (MHC class II antigen DRB1*12) (DR-12) (DR12)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-1 beta chain (MHC class II antigen DRB1*1) (DR-1) (DR1)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-13 beta chain (MHC class II antigen DRB1*13) (DR-13) (DR13)
[HLA-B HLAB] HLA class I histocompatibility antigen, B-51 alpha chain (MHC class I antigen B*51)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-7 beta chain (MHC class II antigen DRB1*7) (DR-7) (DR7)
[HLA-B HLAB] HLA class I histocompatibility antigen, B-48 alpha chain (Bw-48) (MHC class I antigen B*48)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-3 chain (Clone P2-beta-3) (MHC class II antigen DRB1*3)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-8 beta chain (MHC class II antigen DRB1*8) (DR-8) (DR8) (DRw8)
[HLA-DRB1 HLA-DRB2] HLA class II histocompatibility antigen, DRB1-15 beta chain (DW2.2/DR2.2) (MHC class II antigen DRB1*15)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-11 beta chain (DR-5) (DR5) (DRw11) (MHC class II antigen DRB1*11)
[HLA-DRB3] HLA class II histocompatibility antigen, DR beta 3 chain (MHC class II antigen DRB3)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-10 beta chain (DRw10) (MHC class II antigen DRB1*10)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-9 beta chain (MHC class II antigen DRB1*9) (DR-9) (DR9)
[HLA-DRB5] HLA class II histocompatibility antigen, DR beta 5 chain (DR beta-5) (DR2-beta-2) (Dw2) (MHC class II antigen DRB5)
[HLA-DRB1] HLA class II histocompatibility antigen, DRB1-16 beta chain (MHC class II antigen DRB1*16) (DR-16) (DR16)
[HLA-DRB4] HLA class II histocompatibility antigen, DR beta 4 chain (MHC class II antigen DRB4)

Bibliography :
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