P30510 (1C14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HLA class I histocompatibility antigen, Cw-14 alpha chain

Alternative name(s):
MHC class I antigen Cw*14

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-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.
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.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-14 alpha chain		PRO_0000018877
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	45	1	R → H in allele Cw*14:03.		VAR_016636
	Natural variant	73	1	A → E. Corresponds to variant rs1050409 [ dbSNP | Ensembl ].		VAR_056493
	Natural variant	76	1	V → M. Corresponds to variant rs1065382 [ dbSNP | Ensembl ].		VAR_056494
	Natural variant	90	1	K → N. Corresponds to variant rs28626310 [ dbSNP | Ensembl ].		VAR_056495
	Natural variant	97	1	T → A in allele Cw*14:04.		VAR_016637
	Natural variant	101	1	S → N in allele Cw*14:03.		VAR_016638
	Natural variant	137	1	Y → H. Corresponds to variant rs2308574 [ dbSNP | Ensembl ].		VAR_056496
	Natural variant	182	1	A → V. Corresponds to variant rs1059539 [ dbSNP | Ensembl ].		VAR_056497
	Natural variant	201	1	E → K. Corresponds to variant rs1131103 [ dbSNP | Ensembl ].		VAR_056498
	Natural variant	272	1	V → M. Ref.1 Corresponds to variant rs1050276 [ dbSNP | Ensembl ].		VAR_056499
Experimental info
	Sequence conflict	16	1	A → T in AAA92994. Ref.2
	Sequence conflict	43	1	E → G in AAA92994. Ref.2
	Sequence conflict	202	1	T → S in AAA59669. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P30510 [UniParc]. Last modified August 29, 2003. Version 2. Checksum: 792D335D12D6547E	FASTA	366	40,838
	10 20 30 40 50 60 MRVMAPRTLI LLLSGALALT ETWACSHSMR YFSTSVSRPG RGEPRFIAVG YVDDTQFVRF 70 80 90 100 110 120 DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQTDRV SLRNLRGYYN QSEAGSHTLQ 130 140 150 160 170 180 WMFGCDLGPD GRLLRGYDQS AYDGKDYIAL NEDLRSWTAA DTAAQITQRK WEAAREAEQR 190 200 210 220 230 240 RAYLEGTCVE WLRRYLENGK ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT 250 260 270 280 290 300 WQWDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWEP 310 320 330 340 350 360 SSQPTIPIVG IVAGLAVLAV LAVLGAVVAV VMCRRKSSGG KGGSCSQAAS SNSAQGSDES LIACKA

References

[1]	"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*14:02), VARIANT MET-272.
[2]	"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*14:02). Tissue: Blood.
[3]	Zhang L., Ellexson M.E., Hildebrand W.H. Submitted (NOV-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*14:02).
[4]	"DNA typing of Cw*14 alleles in Japanese and the corrected sequence of Cw*1402." Wang H., Tokunaga K., Ogawa A., Akaza T., Tadokoro K., Takiguchi M., Shibata Y., Juji T. Tissue Antigens 47:442-446(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 26-298 (ALLELE CW*14:02). Tissue: Blood.
[5]	"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 (ALLELE CW*14:02).
[6]	"A new HLA-C allele, Cw*1403, associated with HLA-B44 in Japanese." 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. Hum. Immunol. 43:295-300(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*14:03). Tissue: Blood.
[7]	"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*14:03).
[8]	"HLA-Cw*1404: a new HLA-C allele with a hybrid 77Asn-80Asn NK motif." Santos S., Vicario J.L., Aviles M.J., Garcia-Sanchez F., Balas A. Immunogenetics 51:610-612(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*14:04).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M28171 Genomic DNA. Translation: AAA59669.1. U06487 mRNA. Translation: AAA92994.1. U41386 mRNA. Translation: AAC32743.1. D49820 mRNA. Translation: BAA89793.1. AH006136 Genomic DNA. Translation: AAC17726.1. D31817 mRNA. Translation: BAA06604.1. AJ420249 Genomic DNA. Translation: CAD12434.1. AH007516 Genomic DNA. Translation: AAD21014.1.
IPI	IPI00749025.
PIR	I56034.
UniGene	Hs.654404. Hs.656020.
3D structure databases
ProteinModelPortal	P30510.
ModBase	Search...
Protein-protein interaction databases
IntAct	P30510. 1 interaction.
Polymorphism databases
DMDM	34395950.
Proteomic databases
PRIDE	P30510.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000438171; ENSP00000393374; ENSG00000237022.
Organism-specific databases
GeneCards	GC06M031236.
HGNC	HGNC:4933. HLA-C.
MIM	142840. gene.
neXtProt	NX_P30510.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	HBG016709.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	P30510.
CleanEx	HS_HLA-C.
Genevestigator	P30510.
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

1C14_HUMAN

Accession

Primary (citable) accession number: P30510
Secondary accession number(s): O62879 , O78178, Q29641, Q30192, Q9MY35, Q9TQJ5

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1993
Last sequence update:	August 29, 2003
Last modified:	May 1, 2013
This is version 107 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.