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Protein

HLA class I histocompatibility antigen, Cw-7 alpha chain

Gene

HLA-C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the presentation of foreign antigens to the immune system.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processHost-virus interaction, Immunity

Enzyme and pathway databases

ReactomeiR-HSA-1236974. ER-Phagosome pathway.
R-HSA-1236977. Endosomal/Vacuolar pathway.
R-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
R-HSA-6798695. Neutrophil degranulation.
R-HSA-877300. Interferon gamma signaling.
R-HSA-909733. Interferon alpha/beta signaling.
R-HSA-983170. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

Names & Taxonomyi

Protein namesi
Recommended name:
HLA class I histocompatibility antigen, Cw-7 alpha chain
Alternative name(s):
MHC class I antigen Cw*7
Gene namesi
Name:HLA-C
Synonyms:HLAC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000204525.15.
HGNCiHGNC:4933. HLA-C.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini25 – 308ExtracellularSequence analysisAdd BLAST284
Transmembranei309 – 333HelicalSequence analysisAdd BLAST25
Topological domaini334 – 366CytoplasmicSequence analysisAdd BLAST33

Keywords - Cellular componenti

Membrane, MHC I

Pathology & Biotechi

Organism-specific databases

DisGeNETi3107.
MalaCardsiHLA-C.
OpenTargetsiENSG00000204525.
PharmGKBiPA35057.

Polymorphism and mutation databases

BioMutaiTET2.
DMDMi84028168.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Add BLAST24
ChainiPRO_000001887425 – 366HLA class I histocompatibility antigen, Cw-7 alpha chainAdd BLAST342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...) asparagineBy similarity1
Disulfide bondi125 ↔ 188PROSITE-ProRule annotation
Disulfide bondi227 ↔ 283PROSITE-ProRule annotation

Post-translational modificationi

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).By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Ubl conjugation

Proteomic databases

EPDiP10321.
PaxDbiP10321.
PeptideAtlasiP10321.
PRIDEiP10321.

PTM databases

iPTMnetiP10321.
SwissPalmiP10321.

Expressioni

Gene expression databases

BgeeiENSG00000204525.
CleanExiHS_HLA-C.
ExpressionAtlasiP10321. baseline and differential.
GenevisibleiP10321. HS.

Interactioni

Subunit structurei

Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
KIR2DL3P436282EBI-9978491,EBI-8632435

Protein-protein interaction databases

BioGridi109352. 112 interactors.
IntActiP10321. 4 interactors.
STRINGi9606.ENSP00000365402.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BZFX-ray2.50P/Q3-11[»]
5VGEX-ray2.60A26-300[»]
ProteinModelPortaliP10321.
SMRiP10321.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP10321.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini209 – 297Ig-like C1-typeAdd BLAST89

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni25 – 114Alpha-1Add BLAST90
Regioni115 – 206Alpha-2Add BLAST92
Regioni207 – 298Alpha-3Add BLAST92
Regioni299 – 308Connecting peptide10

Sequence similaritiesi

Belongs to the MHC class I family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II5V. Eukaryota.
ENOG4111K8F. LUCA.
GeneTreeiENSGT00760000118960.
HOVERGENiHBG016709.
KOiK06751.
PhylomeDBiP10321.
TreeFamiTF336617.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProiView protein in InterPro
IPR007110. Ig-like_dom.
IPR036179. Ig-like_dom_sf.
IPR013783. Ig-like_fold.
IPR003597. Ig_C1-set.
IPR011161. MHC_I-like_Ag-recog.
IPR037055. MHC_I-like_Ag-recog_sf.
IPR011162. MHC_I/II-like_Ag-recog.
IPR001039. MHC_I_a_a1/a2.
IPR010579. MHC_I_a_C.
PfamiView protein in Pfam
PF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
PRINTSiPR01638. MHCCLASSI.
SMARTiView protein in SMART
SM00407. IGc1. 1 hit.
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF54452. SSF54452. 1 hit.
PROSITEiView protein in PROSITE
PS50835. IG_LIKE. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P10321-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRVMAPRALL LLLSGGLALT ETWACSHSMR YFDTAVSRPG RGEPRFISVG
60 70 80 90 100
YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV
110 120 130 140 150
SLRNLRGYYN QSEDGSHTLQ RMSGCDLGPD GRLLRGYDQS AYDGKDYIAL
160 170 180 190 200
NEDLRSWTAA DTAAQITQRK LEAARAAEQL RAYLEGTCVE WLRRYLENGK
210 220 230 240 250
ETLQRAEPPK THVTHHPLSD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ
260 270 280 290 300
DTELVETRPA GDGTFQKWAA VVVPSGQEQR YTCHMQHEGL QEPLTLSWEP
310 320 330 340 350
SSQPTIPIMG IVAGLAVLVV LAVLGAVVTA MMCRRKSSGG KGGSCSQAAC
360
SNSAQGSDES LITCKA
Length:366
Mass (Da):40,649
Last modified:December 20, 2005 - v3
Checksum:i59C23D95FD1D0BC8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti15 – 16GG → AA in AAA50217 (Ref. 7) Curated2
Sequence conflicti41R → A in AAA52665 (PubMed:3863816).Curated1
Sequence conflicti309M → V in AAA53259 (PubMed:2714852).Curated1

Polymorphismi

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.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05950610L → I. Corresponds to variant dbSNP:rs2308527Ensembl.1
Natural variantiVAR_05034543E → K. Corresponds to variant dbSNP:rs1050438Ensembl.1
Natural variantiVAR_06145048S → A. Corresponds to variant dbSNP:rs707911Ensembl.1
Natural variantiVAR_06145148S → P. Corresponds to variant dbSNP:rs707911Ensembl.1
Natural variantiVAR_06145248S → T. Corresponds to variant dbSNP:rs707911Ensembl.1
Natural variantiVAR_05034673A → E. Corresponds to variant dbSNP:rs1050409Ensembl.1
Natural variantiVAR_05034776V → M. Corresponds to variant dbSNP:rs1065382Ensembl.1
Natural variantiVAR_01659090K → N in allele Cw*07:01. Corresponds to variant dbSNP:rs28626310Ensembl.1
Natural variantiVAR_05034897A → T. Corresponds to variant dbSNP:rs41543814Ensembl.1
Natural variantiVAR_016591101S → N in allele Cw*07:09. Corresponds to variant dbSNP:rs2308557Ensembl.1
Natural variantiVAR_016592104N → K in allele Cw*07:09. Corresponds to variant dbSNP:rs17408553Ensembl.1
Natural variantiVAR_016593119L → F in allele Cw*07:04 and allele Cw*07:11. Corresponds to variant dbSNP:rs1071649Ensembl.1
Natural variantiVAR_059507123S → C. Corresponds to variant dbSNP:rs1131115Ensembl.1
Natural variantiVAR_059508123S → F. Corresponds to variant dbSNP:rs1131115Ensembl.1
Natural variantiVAR_016594123S → Y in allele Cw*07:01. Corresponds to variant dbSNP:rs1131115Ensembl.1
Natural variantiVAR_050349137Y → H. Corresponds to variant dbSNP:rs2308574Ensembl.1
Natural variantiVAR_016595140S → F in allele Cw*07:04 and allele Cw*07:11. Corresponds to variant dbSNP:rs713032Ensembl.1
Natural variantiVAR_016646171L → W in allele Cw*07:03. Corresponds to variant dbSNP:rs1050366Ensembl.1
Natural variantiVAR_016596180L → D in allele Cw*07:04 and allele Cw*07:11; requires 2 nucleotide substitutions. 1
Natural variantiVAR_050350182A → V. Corresponds to variant dbSNP:rs1059539Ensembl.1
Natural variantiVAR_016647187T → L in allele Cw*07:03; requires 2 nucleotide substitutions. 1
Natural variantiVAR_016597201E → K in allele Cw*07:04 and allele Cw0711. Corresponds to variant dbSNP:rs1131103Ensembl.1
Natural variantiVAR_061453208P → H. Corresponds to variant dbSNP:rs1131096Ensembl.1
Natural variantiVAR_061454208P → R. Corresponds to variant dbSNP:rs1131096Ensembl.1
Natural variantiVAR_050351272V → M. Corresponds to variant dbSNP:rs1050276Ensembl.1
Natural variantiVAR_050352328V → I. Corresponds to variant dbSNP:rs1050118Ensembl.1
Natural variantiVAR_050353330A → V. Corresponds to variant dbSNP:rs1050105Ensembl.1
Natural variantiVAR_016598331M → K in allele Cw*07:06. Corresponds to variant dbSNP:rs41542414Ensembl.1
Natural variantiVAR_050354331M → V. Corresponds to variant dbSNP:rs1130935Ensembl.1
Natural variantiVAR_016599348A → V in allele Cw*07:06. Corresponds to variant dbSNP:rs41559915Ensembl.1
Natural variantiVAR_061455350C → SCombined sourcesCorresponds to variant dbSNP:rs35708511Ensembl.1
Natural variantiVAR_016600363T → A in allele Cw*07:11. Corresponds to variant dbSNP:rs1130838Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS34393.1.
PIRiA24512. HLHUC4.
I37078.
I37529.
I68750.
RefSeqiNP_002108.4. NM_002117.5.
UniGeneiHs.656020.
Hs.743218.

Genome annotation databases

EnsembliENST00000376228; ENSP00000365402; ENSG00000204525.
GeneIDi3107.
KEGGihsa:3107.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry namei1C07_HUMAN
AccessioniPrimary (citable) accession number: P10321
Secondary accession number(s): O78061
, O78083, Q29631, Q29652, Q29867, Q29990, Q95463, Q95603, Q9MY31, Q9TQP9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: December 20, 2005
Last modified: November 22, 2017
This is version 171 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families