Q95604 (1C17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HLA class I histocompatibility antigen, Cw-17 alpha chain

Alternative name(s):
MHC class I antigen Cw*17

Gene names

Name:	HLA-C
Synonyms:	D6S204, HLA-JY3, 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	372 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein 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-17 are known: Cw*17:01, Cw*17:02 and Cw*17:03. The sequence shown is that of Cw*17:01.
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 phagocytic vesicle membrane Traceable author statement. Source: Reactome plasma 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 – 372	348	HLA class I histocompatibility antigen, Cw-17 alpha chain		PRO_0000018880
Regions
	Topological domain	25 – 317	293	Extracellular Potential
	Transmembrane	318 – 338	21	Helical; Potential
	Topological domain	339 – 372	34	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 – 317	19	Connecting peptide
Amino acid modifications
	Glycosylation	110	1	N-linked (GlcNAc...) Ref.8
	Disulfide bond	125 ↔ 188		By similarity
	Disulfide bond	227 ↔ 283		By similarity
Natural variations
	Natural variant	7 – 8	2	QA → RT in allele Cw*17:02.		VAR_016648
	Natural variant	10	1	L → I in allele Cw*17:02.		VAR_016649
	Natural variant	24	1	A → T in allele Cw*17:03.		VAR_016650
	Natural variant	73	1	A → E. Corresponds to variant rs1050409 [ dbSNP | Ensembl ].		VAR_056512
	Natural variant	76	1	V → M. Corresponds to variant rs1065382 [ dbSNP | Ensembl ].		VAR_056513
	Natural variant	90	1	K → N. Corresponds to variant rs28626310 [ dbSNP | Ensembl ].		VAR_056514
	Natural variant	97	1	A → T. Corresponds to variant rs41543814 [ dbSNP | Ensembl ].		VAR_056515
	Natural variant	272	1	V → M. Corresponds to variant rs1050276 [ dbSNP | Ensembl ].		VAR_056516

Sequences

	Sequence		Length	Mass (Da)
	Q95604 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: D5DDCE6361D93AA2	FASTA	372	41,238
	10 20 30 40 50 60 MRVMAPQALL LLLSGALALI ETWAGSHSMR YFYTAVSRPG RGEPRFIAVG YVDDTQFVRF 70 80 90 100 110 120 DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV NLRKLRGYYN QSEAGSHTIQ 130 140 150 160 170 180 RMYGCDLGPD GRLLRGYNQF AYDGKDYIAL NEDLRSWTAA DTAAQISQRK LEAAREAEQL 190 200 210 220 230 240 RAYLEGECVE WLRGYLENGK ETLQRAERPK THVTHHPVSD HEATLRCWAL GFYPAEITLT 250 260 270 280 290 300 WQRDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGQEQR YTCHVQHEGL QEPCTLRWKP 310 320 330 340 350 360 SSQPTIPNLG IVSGPAVLAV LAVLAVLAVL GAVVAAVIHR RKSSGGKGGS CSQAASSNSA 370 QGSDESLIAC KA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Herrero M.J. Submitted (OCT-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*17:01).
[2]	Wells R.S., Parham P. Submitted (SEP-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*17:01).
[3]	Herrero M.J., Vilches C. Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*17:01).
[4]	"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*17:01).
[5]	"Nucleotide sequence analysis of HLA-Cw blank alleles from seven B cell lines." Yang S., Cereb N. Submitted (APR-1994) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 26-298 (ALLELE CW*17:01). Tissue: Blood.
[6]	"HLA-C locus polymorphisms in Japanese." Wang H., Tokunaga K. Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 1-289 (ALLELE CW*17:02). Tissue: Peripheral blood.
[7]	"There is more to HLA -C than exons 2 and 3: sequencing exons 1, 4 and 5." van der Vlies S.A., Voorter C.E., van den Berg-Loonen E.M. Tissue Antigens 54:169-177(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-338 (ALLELE CW*17:03).
[8]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-110, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X98742 mRNA. Translation: CAA67294.1. U62824 mRNA. Translation: AAB67322.1. Y10520 mRNA. Translation: CAA71531.1. AJ420252 Genomic DNA. Translation: CAD12437.1. U06835 mRNA. Translation: AAA17674.1. D64149 mRNA. Translation: BAA20857.1. Y18537 , Y18538, Y18539, Y18540, Y18541 Genomic DNA. Translation: CAB71837.1.
IPI	IPI00473006.
PIR	A59028.
UniGene	Hs.656020. Hs.743218. Hs.77961.
3D structure databases
ProteinModelPortal	Q95604.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q95604. 1 interaction.
Polymorphism databases
DMDM	34395506.
Proteomic databases
PaxDb	Q95604.
PRIDE	Q95604.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000400341; ENSP00000383195; ENSG00000206435. ENST00000400394; ENSP00000383244; ENSG00000206452.
Organism-specific databases
GeneCards	GC06M031236. GC06Mn31226. GC06Mo31229.
HGNC	HGNC:4933. HLA-C.
MIM	142840. gene.
neXtProt	NX_Q95604.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG42056.
HOVERGEN	HBG016709.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	Q95604.
CleanEx	HS_HLA-C.
Genevestigator	Q95604.
GermOnline	ENSG00000204525. Homo sapiens.
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

1C17_HUMAN

Accession

Primary (citable) accession number: Q95604
Secondary accession number(s): O02864 , O02958, Q29643, Q9MY30

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 29, 2003
Last sequence update:	February 1, 1997
Last modified:	May 29, 2013
This is version 102 of the entry and version 1 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.