P10321 (1C07_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HLA class I histocompatibility antigen, Cw-7 alpha chain

Alternative name(s):
MHC class I antigen Cw*7

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 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-7 are known: Cw*07:01, Cw*07:02, Cw*07:03, Cw*07:04, Cw*07:06, Cw*07:09 and Cw*07:11. The sequence shown is that of Cw*07:02.
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	3D-structure 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 – 366	342	HLA class I histocompatibility antigen, Cw-7 alpha chain		PRO_0000018874
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	10	1	L → I. Corresponds to variant rs2308527 [ dbSNP | Ensembl ].		VAR_059506
	Natural variant	43	1	E → K. Corresponds to variant rs1050438 [ dbSNP | Ensembl ].		VAR_050345
	Natural variant	48	1	S → A. Corresponds to variant rs707911 [ dbSNP | Ensembl ].		VAR_061450
	Natural variant	48	1	S → P. Corresponds to variant rs707911 [ dbSNP | Ensembl ].		VAR_061451
	Natural variant	48	1	S → T. Corresponds to variant rs707911 [ dbSNP | Ensembl ].		VAR_061452
	Natural variant	73	1	A → E. Corresponds to variant rs1050409 [ dbSNP | Ensembl ].		VAR_050346
	Natural variant	76	1	V → M. Corresponds to variant rs1065382 [ dbSNP | Ensembl ].		VAR_050347
	Natural variant	90	1	K → N in allele Cw*07:01. Corresponds to variant rs28626310 [ dbSNP | Ensembl ].		VAR_016590
	Natural variant	97	1	A → T. Corresponds to variant rs41543814 [ dbSNP | Ensembl ].		VAR_050348
	Natural variant	101	1	S → N in allele Cw*07:09. Corresponds to variant rs2308557 [ dbSNP | Ensembl ].		VAR_016591
	Natural variant	104	1	N → K in allele Cw*07:09. Corresponds to variant rs17408553 [ dbSNP | Ensembl ].		VAR_016592
	Natural variant	119	1	L → F in allele Cw*07:04 and allele Cw*07:11.		VAR_016593
	Natural variant	123	1	S → C. Corresponds to variant rs1131115 [ dbSNP | Ensembl ].		VAR_059507
	Natural variant	123	1	S → F. Corresponds to variant rs1131115 [ dbSNP | Ensembl ].		VAR_059508
	Natural variant	123	1	S → Y in allele Cw*07:01. Corresponds to variant rs1131115 [ dbSNP | Ensembl ].		VAR_016594
	Natural variant	137	1	Y → H. Corresponds to variant rs2308574 [ dbSNP | Ensembl ].		VAR_050349
	Natural variant	140	1	S → F in allele Cw*07:04 and allele Cw*07:11.		VAR_016595
	Natural variant	171	1	L → W in allele Cw*07:03. Corresponds to variant rs1050366 [ dbSNP | Ensembl ].		VAR_016646
	Natural variant	180	1	L → D in allele Cw*07:04 and allele Cw*07:11; requires 2 nucleotide substitutions.		VAR_016596
	Natural variant	182	1	A → V. Corresponds to variant rs1059539 [ dbSNP | Ensembl ].		VAR_050350
	Natural variant	187	1	T → L in allele Cw*07:03; requires 2 nucleotide substitutions.		VAR_016647
	Natural variant	201	1	E → K in allele Cw*07:04 and allele Cw0711. Corresponds to variant rs1131103 [ dbSNP | Ensembl ].		VAR_016597
	Natural variant	208	1	P → H. Corresponds to variant rs1131096 [ dbSNP | Ensembl ].		VAR_061453
	Natural variant	208	1	P → R. Corresponds to variant rs1131096 [ dbSNP | Ensembl ].		VAR_061454
	Natural variant	272	1	V → M. Corresponds to variant rs1050276 [ dbSNP | Ensembl ].		VAR_050351
	Natural variant	328	1	V → I. Corresponds to variant rs1050118 [ dbSNP | Ensembl ].		VAR_050352
	Natural variant	330	1	A → V. Corresponds to variant rs1050105 [ dbSNP | Ensembl ].		VAR_050353
	Natural variant	331	1	M → K in allele Cw*07:06.		VAR_016598
	Natural variant	331	1	M → V. Corresponds to variant rs1130935 [ dbSNP | Ensembl ].		VAR_050354
	Natural variant	348	1	A → V in allele Cw*07:06.		VAR_016599
	Natural variant	350	1	C → S. Corresponds to variant rs35708511 [ dbSNP | Ensembl ].		VAR_061455
	Natural variant	363	1	T → A in allele Cw*07:11.		VAR_016600
Experimental info
	Sequence conflict	15 – 16	2	GG → AA in AAA50217. Ref.7
	Sequence conflict	41	1	R → A in AAA52665. Ref.10
	Sequence conflict	309	1	M → V in AAA53259. Ref.13

Sequences

	Sequence		Length	Mass (Da)
	P10321 [UniParc]. Last modified December 20, 2005. Version 3. Checksum: 59C23D95FD1D0BC8	FASTA	366	40,649
	10 20 30 40 50 60 MRVMAPRALL LLLSGGLALT ETWACSHSMR YFDTAVSRPG RGEPRFISVG YVDDTQFVRF 70 80 90 100 110 120 DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV SLRNLRGYYN QSEDGSHTLQ 130 140 150 160 170 180 RMSGCDLGPD GRLLRGYDQS AYDGKDYIAL NEDLRSWTAA DTAAQITQRK LEAARAAEQL 190 200 210 220 230 240 RAYLEGTCVE WLRRYLENGK ETLQRAEPPK THVTHHPLSD HEATLRCWAL GFYPAEITLT 250 260 270 280 290 300 WQRDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGQEQR YTCHMQHEGL QEPLTLSWEP 310 320 330 340 350 360 SSQPTIPIMG IVAGLAVLVV LAVLGAVVTA MMCRRKSSGG KGGSCSQAAC SNSAQGSDES LITCKA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Anchored PCR cloning of the novel HLA-Cw*0704 allele detected by PCR-SSP." Vilches C., Bunce M., de Pablo R., Herrero M.J., Kreisler M. Tissue Antigens 46:19-23(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*07:04).
[2]	"Identification and DNA typing of two Cw7 alleles (Cw*0702 and Cw*0704) in Japanese, with the corrected sequence of Cw*0702." Wang H., Tokunaga K., Ishikawa Y., Asahina A., Kuwata S., Akaza T., Tadokoro K., Shibata Y., Takiguchi M., Juji T. Hum. Immunol. 45:52-58(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELES CW*07:02 AND CW*07:04). Tissue: Blood.
[3]	"Molecular cloning of two new HLA-C alleles: Cw*1801 and Cw*0706." Vilches C., Bunce M., Sanz L., de Pablo R., Puente S., Kreisler M. Tissue Antigens 48:698-702(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*07:06).
[4]	"A major histocompatibility complex class I allele shared by two species of chimpanzee." Cooper S.L., Adams E.J., Wells R.S., Walker C.M., Parham P. Immunogenetics 47:212-217(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*07:02).
[5]	"Correction of HLA-Cw*0501 and identification of HLA-Cw*0711." Baurain J.-F., Coulie P.G. Tissue Antigens 53:510-512(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*07:11).
[6]	"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 [GENOMIC DNA] (ALLELES CW*07:02 AND CW*07:04). Tissue: Blood.
[7]	"Identification of a new HLA-Cw7 allele." Coulie P.G. Submitted (MAY-1994) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*07:04). Tissue: Melanoma.
[8]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"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*07:01).
[10]	"Comparison of HLA class I gene sequences. Derivation of locus-specific oligonucleotide probes specific for HLA-A, HLA-B, and HLA-C genes." Davidson W.F., Kress M., Khoury G., Jay G. J. Biol. Chem. 260:13414-13423(1985) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 25-366 (ALLELE CW*07:03).
[11]	"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*07:09).
[12]	"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 26-338 (ALLELE CW*07:01).
[13]	"Allelic variation in HLA-B and HLA-C sequences and the evolution of the HLA-B alleles." Pohla H., Kuon W., Tabaczewski P., Doerner C., Weiss E.H. Immunogenetics 29:297-307(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 77-309 (ALLELE CW*07:01).
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

X83394 mRNA. Translation: CAA58313.1.
D38526 mRNA. Translation: BAA07531.1.
D49819 mRNA. Translation: BAA08625.1.
D49552 mRNA. Translation: BAA08500.1.
X97321 mRNA. Translation: CAA65986.1.
AJ001977 Genomic DNA. Translation: CAA05125.1. Sequence problems.
AJ010749 mRNA. Translation: CAA09341.1.
AJ293016 Genomic DNA. Translation: CAC04321.1.
AJ293017 Genomic DNA. Translation: CAC04322.1.
AJ291815 Genomic DNA. Translation: CAC19191.1.
U09853 mRNA. Translation: AAA50217.1.
AL671883 Genomic DNA. No translation available.
Z46810 mRNA. Translation: CAA86840.1.
M11886 mRNA. Translation: AAA52665.1.
AH006132 Genomic DNA. Translation: AAC17722.1.
Y18533 , Y18534, Y18535, Y18536 Genomic DNA. Translation: CAB71800.1.
M28207 mRNA. Translation: AAA53259.1.

IPI

IPI00642409.

PIR

HLHUC4. A24512.
I37078.
I37529.
I68750.

RefSeq

NP_002108.4. NM_002117.5.

UniGene

Hs.654404.
Hs.656020.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3BZF	X-ray	2.50	P/Q	3-11	[»]

ProteinModelPortal

P10321.

ModBase

Search...

Polymorphism databases

DMDM

84028168.

Proteomic databases

PRIDE

P10321.

Protocols and materials databases

DNASU

3107.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000376228; ENSP00000365402; ENSG00000204525.

GeneID

3107.

KEGG

hsa:3107.

UCSC

uc003nsy.3. human.

Organism-specific databases

CTD

3107.

GeneCards

GC06M031236.

HGNC

HGNC:4933. HLA-C.

MIM

142840. gene.

neXtProt

NX_P10321.

PharmGKB

PA35057.

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

HBG016709.

KO

K06751.

OrthoDB

EOG4F4SBG.

PhylomeDB

P10321.

Enzyme and pathway databases

Reactome

REACT_6900. Immune System.

Gene expression databases

ArrayExpress

P10321.

Bgee

P10321.

CleanEx

HS_HLA-C.

Genevestigator

P10321.

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.
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. False negative.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

HLA-C. human.

EvolutionaryTrace

P10321.

GenomeRNAi

3107.

NextBio

12327.

SOURCE

Search...

Entry information

Entry name

1C07_HUMAN

Accession

Primary (citable) accession number: P10321
Secondary accession number(s): O78061 , O78083, Q29631, Q29652, Q29867, Q29990, Q95463, Q95603, Q9MY31, Q9TQP9

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1989
Last sequence update:	December 20, 2005
Last modified:	May 1, 2013
This is version 127 of the entry and version 3 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.