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

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length366 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 processHost-virus interaction
Immunity
   Cellular componentMembrane
MHC I
   Coding sequence diversityPolymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Ubl conjugation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processantigen processing and presentation of exogenous peptide antigen via MHC class I

Traceable author statement. Source: Reactome

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

antigen processing and presentation of peptide antigen via MHC class I

Traceable author statement. Source: Reactome

cytokine-mediated signaling pathway

Traceable author statement. Source: Reactome

interferon-gamma-mediated signaling pathway

Traceable author statement. Source: Reactome

positive regulation of T cell mediated cytotoxicity

Inferred from electronic annotation. Source: InterPro

regulation of immune response

Traceable author statement. Source: Reactome

type I interferon signaling pathway

Traceable author statement. Source: Reactome

viral process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentER to Golgi transport vesicle membrane

Traceable author statement. Source: Reactome

Golgi apparatus

Inferred from sequence or structural similarity. Source: UniProt

Golgi membrane

Traceable author statement. Source: Reactome

MHC class I protein complex

Inferred from sequence or structural similarity. Source: UniProt

cell surface

Inferred from direct assay PubMed 9754572. Source: UniProt

early endosome membrane

Traceable author statement. Source: Reactome

endoplasmic reticulum

Inferred from sequence or structural similarity. Source: UniProt

extracellular vesicular exosome

Inferred from direct assay PubMed 20458337. Source: UniProt

integral component of 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

   Molecular_functionpeptide antigen binding

Inferred from sequence or structural similarity. Source: UniProt

receptor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424
Chain25 – 366342HLA class I histocompatibility antigen, Cw-7 alpha chain
PRO_0000018874

Regions

Topological domain25 – 308284Extracellular Potential
Transmembrane309 – 33325Helical; Potential
Topological domain334 – 36633Cytoplasmic Potential
Domain209 – 29789Ig-like C1-type
Region25 – 11490Alpha-1
Region115 – 20692Alpha-2
Region207 – 29892Alpha-3
Region299 – 30810Connecting peptide

Amino acid modifications

Glycosylation1101N-linked (GlcNAc...) By similarity
Disulfide bond125 ↔ 188 By similarity
Disulfide bond227 ↔ 283 By similarity

Natural variations

Natural variant101L → I.
Corresponds to variant rs2308527 [ dbSNP | Ensembl ].
VAR_059506
Natural variant431E → K.
Corresponds to variant rs1050438 [ dbSNP | Ensembl ].
VAR_050345
Natural variant481S → A.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061450
Natural variant481S → P.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061451
Natural variant481S → T.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061452
Natural variant731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_050346
Natural variant761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_050347
Natural variant901K → N in allele Cw*07:01.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_016590
Natural variant971A → T.
Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
VAR_050348
Natural variant1011S → N in allele Cw*07:09.
Corresponds to variant rs2308557 [ dbSNP | Ensembl ].
VAR_016591
Natural variant1041N → K in allele Cw*07:09.
Corresponds to variant rs17408553 [ dbSNP | Ensembl ].
VAR_016592
Natural variant1191L → F in allele Cw*07:04 and allele Cw*07:11.
Corresponds to variant rs1071649 [ dbSNP | Ensembl ].
VAR_016593
Natural variant1231S → C.
Corresponds to variant rs1131115 [ dbSNP | Ensembl ].
VAR_059507
Natural variant1231S → F.
Corresponds to variant rs1131115 [ dbSNP | Ensembl ].
VAR_059508
Natural variant1231S → Y in allele Cw*07:01.
Corresponds to variant rs1131115 [ dbSNP | Ensembl ].
VAR_016594
Natural variant1371Y → H.
Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
VAR_050349
Natural variant1401S → F in allele Cw*07:04 and allele Cw*07:11.
Corresponds to variant rs713032 [ dbSNP | Ensembl ].
VAR_016595
Natural variant1711L → W in allele Cw*07:03.
Corresponds to variant rs1050366 [ dbSNP | Ensembl ].
VAR_016646
Natural variant1801L → D in allele Cw*07:04 and allele Cw*07:11; requires 2 nucleotide substitutions.
VAR_016596
Natural variant1821A → V.
Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
VAR_050350
Natural variant1871T → L in allele Cw*07:03; requires 2 nucleotide substitutions.
VAR_016647
Natural variant2011E → K in allele Cw*07:04 and allele Cw0711.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_016597
Natural variant2081P → H.
Corresponds to variant rs1131096 [ dbSNP | Ensembl ].
VAR_061453
Natural variant2081P → R.
Corresponds to variant rs1131096 [ dbSNP | Ensembl ].
VAR_061454
Natural variant2721V → M.
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_050351
Natural variant3281V → I.
Corresponds to variant rs1050118 [ dbSNP | Ensembl ].
VAR_050352
Natural variant3301A → V.
Corresponds to variant rs1050105 [ dbSNP | Ensembl ].
VAR_050353
Natural variant3311M → K in allele Cw*07:06.
Corresponds to variant rs41542414 [ dbSNP | Ensembl ].
VAR_016598
Natural variant3311M → V.
Corresponds to variant rs1130935 [ dbSNP | Ensembl ].
VAR_050354
Natural variant3481A → V in allele Cw*07:06.
Corresponds to variant rs41559915 [ dbSNP | Ensembl ].
VAR_016599
Natural variant3501C → S.
Corresponds to variant rs35708511 [ dbSNP | Ensembl ].
VAR_061455
Natural variant3631T → A in allele Cw*07:11.
Corresponds to variant rs1130838 [ dbSNP | Ensembl ].
VAR_016600

Experimental info

Sequence conflict15 – 162GG → AA in AAA50217. Ref.7
Sequence conflict411R → A in AAA52665. Ref.10
Sequence conflict3091M → V in AAA53259. Ref.13

Sequences

Sequence LengthMass (Da)Tools
P10321 [UniParc].

Last modified December 20, 2005. Version 3.
Checksum: 59C23D95FD1D0BC8

FASTA36640,649
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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 expand/collapse EMBL AC list , Y18534, Y18535, Y18536 Genomic DNA. Translation: CAB71800.1.
M28207 mRNA. Translation: AAA53259.1.
CCDSCCDS34393.1.
PIRHLHUC4. A24512.
I37078.
I37529.
I68750.
RefSeqNP_002108.4. NM_002117.5.
UniGeneHs.656020.
Hs.743218.
Hs.77961.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3BZFX-ray2.50P/Q3-11[»]
ProteinModelPortalP10321.
SMRP10321. Positions 26-298.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109352. 22 interactions.

Polymorphism databases

DMDM84028168.

Proteomic databases

MaxQBP10321.
PRIDEP10321.

Protocols and materials databases

DNASU3107.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376228; ENSP00000365402; ENSG00000204525.
GeneID3107.
KEGGhsa:3107.
UCSCuc003nsy.3. human.

Organism-specific databases

CTD3107.
GeneCardsGC06M031236.
HGNCHGNC:4933. HLA-C.
MIM142840. gene.
neXtProtNX_P10321.
PharmGKBPA35057.
GenAtlasSearch...

Phylogenomic databases

HOVERGENHBG016709.
KOK06751.
OrthoDBEOG7JT6WQ.
PhylomeDBP10321.
TreeFamTF336617.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

ArrayExpressP10321.
BgeeP10321.
CleanExHS_HLA-C.
GenevestigatorP10321.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003597. Ig_C1-set.
IPR011161. MHC_I-like_Ag-recog.
IPR011162. MHC_I/II-like_Ag-recog.
IPR027648. MHC_I_a.
IPR001039. MHC_I_a_a1/a2.
IPR010579. MHC_I_a_C.
[Graphical view]
PfamPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
[Graphical view]
PRINTSPR01638. MHCCLASSI.
SMARTSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMSSF54452. SSF54452. 1 hit.
PROSITEPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHLA-C. human.
EvolutionaryTraceP10321.
GeneWikiHLA-C.
GenomeRNAi3107.
NextBio12327.
SOURCESearch...

Entry information

Entry name1C07_HUMAN
AccessionPrimary (citable) accession number: P10321
Secondary accession number(s): O78061 expand/collapse secondary AC list , 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: July 9, 2014
This is version 139 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM