P30499 (1C01_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HLA class I histocompatibility antigen, Cw-1 alpha chain

Alternative name(s):
MHC class I antigen Cw*1

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-1 are known: Cw*01:01 (Cw1.1), Cw*01:02 (Cw1.2), Cw*01:03 and Cw*01:04. The sequence shown is that of Cw*01:01.
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 integral to plasma membrane Non-traceable author statement Ref.4. 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-1 alpha chain		PRO_0000018868
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	5	1	E → A in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.		VAR_016544
	Natural variant	43	1	E → K. Corresponds to variant rs1050438 [ dbSNP | Ensembl ].		VAR_056454
	Natural variant	48	1	S → A. Corresponds to variant rs707911 [ dbSNP | Ensembl ].		VAR_061444
	Natural variant	48	1	S → P. Corresponds to variant rs707911 [ dbSNP | Ensembl ].		VAR_061445
	Natural variant	48	1	S → T. Corresponds to variant rs707911 [ dbSNP | Ensembl ].		VAR_061446
	Natural variant	73	1	A → E. Corresponds to variant rs1050409 [ dbSNP | Ensembl ].		VAR_056455
	Natural variant	76	1	V → M. Corresponds to variant rs1065382 [ dbSNP | Ensembl ].		VAR_056456
	Natural variant	90	1	K → N. Corresponds to variant rs28626310 [ dbSNP | Ensembl ].		VAR_056457
	Natural variant	92	1	N → K in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.		VAR_016545
	Natural variant	138	1	D → N in allele Cw*01:03.		VAR_016546
	Natural variant	140	1	Y → F in allele Cw*01:03.		VAR_016547
	Natural variant	140	1	Y → S in allele Cw*01:04.		VAR_016548
	Natural variant	179	1	E → Q in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.		VAR_016549
	Natural variant	180	1	R → W in allele Cw*01:04.		VAR_016550
	Natural variant	201	1	E → K. Corresponds to variant rs1131103 [ dbSNP | Ensembl ].		VAR_056458
	Natural variant	202	1	S → T in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.		VAR_016551
	Natural variant	243	1	W → R in allele Cw*01:04.		VAR_016552
	Natural variant	272	1	M → V in allele Cw*01:04.		VAR_016553
	Natural variant	328	1	V → M in allele Cw*01:04.		VAR_016554
	Natural variant	364	1	S → C in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.		VAR_016555

Sequences

	Sequence		Length	Mass (Da)
	P30499 [UniParc]. Last modified April 1, 1993. Version 1. Checksum: 285CCFCB92788744	FASTA	366	40,965
	10 20 30 40 50 60 MRVMEPRTLI LLLSGALALT ETWACSHSMK YFFTSVSRPG RGEPRFISVG YVDDTQFVRF 70 80 90 100 110 120 DSDAASPRGE PRAPWVEQEG PEYWDRETQK YNRQAQTDRV SLRNLRGYYN QSEAGSHTLQ 130 140 150 160 170 180 WMCGCDLGPD GRLLRGYDQY AYDGKDYIAL NEDLRSWTAA DTAAQITQRK WEAAREAEER 190 200 210 220 230 240 RAYLEGTCVE WLRRYLENGK ESLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT 250 260 270 280 290 300 WQWDGEDQTQ DTELVETRPA GDGTFQKWAA VMVPSGEEQR YTCHVQHEGL PEPLTLRWEP 310 320 330 340 350 360 SSQPTIPIVG IVAGLAVLAV LAVLGAVVAV VMCRRKSSGG KGGSCSQAAS SNSAQGSDES LIASKA

References

[1]	"Complete nucleotide sequence of a unique HLA class I C locus product expressed on the human choriocarcinoma cell line BeWo." Ellis S.A., Strachan T., Palmer M.S., McMichael A.J. J. Immunol. 142:3281-3285(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:01).
[2]	"Isolation, expression, and the primary structure of HLA-Cw1 and HLA-Cw2 genes: evolutionary aspects." Gussow D., Rein R.S., Meijer I., de Hoog W., Seemann G.H., Hochstenbach F.M., Ploegh H.L. Immunogenetics 25:313-322(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*01:02).
[3]	Erratum Gussow D., Rein R.S., Meijer I., de Hoog W., Seemann G.H., Hochstenbach F.M., Ploegh H.L. Immunogenetics 27:158-158(1988)
[4]	"The molecular basis for reactivity of anti-Cw1 and anti-Cw3 alloantisera with HLA-B46 haplotypes." Zemmour J., Gumperz J.E., Hildebrand W.H., Ward F.E., Marsh S.G.E., Williams R.C., Parham P. Tissue Antigens 39:249-257(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:02).
[5]	"HLA class I alleles of LCL 721 and 174 x CEM.T2 (T2)." Steinle A., Schendel D.J. Tissue Antigens 44:268-270(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-206 (ALLELE CW*01:02).
[6]	"Cw*0103, a new allele encoding for a novel HLA-Cw1 split in the Japanese population." Wang H., Nakajima F., Tokunaga K., Kashiwase K., Ishikawa Y., Juji T. Tissue Antigens 51:571-573(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:03). Tissue: Peripheral blood.
[7]	"Full length sequencing of a new Cw*01 variant allele." Day S. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*01:04).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M26429 mRNA. Translation: AAA59701.1. M16272 Genomic DNA. Translation: AAA59700.1. M84171 mRNA. Translation: AAA59685.1. Z46809 mRNA. Translation: CAA86839.1. D64145 mRNA. Translation: BAA19531.1. AJ133100 Genomic DNA. Translation: CAB38942.1.
IPI	IPI00026650.
PIR	I37528. I54430. I59622.
UniGene	Hs.654404. Hs.656020.
3D structure databases
ProteinModelPortal	P30499.
ModBase	Search...
Polymorphism databases
DMDM	231423.
Proteomic databases
PaxDb	P30499.
PRIDE	P30499.
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_P30499.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG42056.
HOVERGEN	HBG016709.
OrthoDB	EOG4F4SBG.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	P30499.
CleanEx	HS_HLA-C.
Genevestigator	P30499.
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

1C01_HUMAN

Accession

Primary (citable) accession number: P30499
Secondary accession number(s): O02865 , O19676, P30500, Q29986, Q9UQS9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1993
Last sequence update:	April 1, 1993
Last modified:	May 1, 2013
This is version 105 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.