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Protein

HLA class I histocompatibility antigen, Cw-12 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

Complete GO annotation...

Keywords - Biological processi

Host-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-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-12 alpha chain
Alternative name(s):
MHC class I antigen Cw*12
Gene namesi
Name:HLA-C
Synonyms:HLAC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:4933. HLA-C.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, MHC I

Pathology & Biotechi

Organism-specific databases

MalaCardsiHLA-C.

Polymorphism and mutation databases

DMDMi34223723.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Add BLAST24
ChainiPRO_000001887625 – 366HLA class I histocompatibility antigen, Cw-12 alpha chainAdd BLAST342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...)By 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

EPDiP30508.
MaxQBiP30508.
PeptideAtlasiP30508.
PRIDEiP30508.

PTM databases

SwissPalmiP30508.

Expressioni

Gene expression databases

BgeeiENSG00000228299.
CleanExiHS_HLA-C.

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

Protein-protein interaction databases

IntActiP30508. 15 interactors.

Structurei

3D structure databases

ProteinModelPortaliP30508.
SMRiP30508.
ModBaseiSearch...
MobiDBiSearch...

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

HOVERGENiHBG016709.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProiIPR007110. 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]
PfamiPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
[Graphical view]
PRINTSiPR01638. MHCCLASSI.
SMARTiSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF54452. SSF54452. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P30508-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRVMAPRTLI LLLSGALALT ETWACSHSMR YFYTAVSRPG RGEPRFIAVG
60 70 80 90 100
YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV
110 120 130 140 150
SLRNLRGYYN QSEAGSHTLQ RMYGCDLGPD GRLLRGYDQS AYDGKDYIAL
160 170 180 190 200
NEDLRSWTAA DTAAQITQRK WEAAREAEQW RAYLEGTCVE WLRRYLENGK
210 220 230 240 250
ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ
260 270 280 290 300
DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWEP
310 320 330 340 350
SSQPTIPIVG IVAGLAVLAV LAVLGAVMAV VMCRRKSSGG KGGSCSQAAS
360
SNSAQGSDES LIACKA
Length:366
Mass (Da):40,886
Last modified:August 22, 2003 - v2
Checksum:i598C8795CD033FB7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti25C → G (PubMed:2843461).Curated1
Sequence conflicti140S → V in AAA59847 (PubMed:2843461).Curated1

Polymorphismi

The following alleles of Cw-12 are known: Cw*12:02, Cw*12:03, Cw*12:04, Cw*12:05, Cw*12:06, Cw*12:07, Cw*12:08 and Cw*12:09. The sequence shown is that of Cw*12:02.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05648773A → E.Corresponds to variant rs1050409dbSNPEnsembl.1
Natural variantiVAR_05648876V → M.Corresponds to variant rs1065382dbSNPEnsembl.1
Natural variantiVAR_01662290K → N in allele Cw*12:08. Corresponds to variant rs28626310dbSNPEnsembl.1
Natural variantiVAR_01662397A → T in allele Cw*12:05 and allele Cw*12:09. Corresponds to variant rs41543814dbSNPEnsembl.1
Natural variantiVAR_016624101S → G in allele Cw*12:07. 1
Natural variantiVAR_016625101S → N in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09. Corresponds to variant rs2308557dbSNPEnsembl.1
Natural variantiVAR_016626104N → K in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09. Corresponds to variant rs17408553dbSNPEnsembl.1
Natural variantiVAR_016627121R → W in allele Cw*12:03, allele Cw*12:04, allele Cw*12:05, allele Cw*12:06, allele Cw*12:07 and allele Cw*12:09. 1
Natural variantiVAR_056489137Y → H.Corresponds to variant rs2308574dbSNPEnsembl.1
Natural variantiVAR_016628144G → V in allele Cw*12:06. 1
Natural variantiVAR_016629180W → R in allele Cw*12:09. 1
Natural variantiVAR_056490182A → V.Corresponds to variant rs1059539dbSNPEnsembl.1
Natural variantiVAR_056491201E → K.Corresponds to variant rs1131103dbSNPEnsembl.1
Natural variantiVAR_054155208H → P.1 Publication1
Natural variantiVAR_056492272V → M.Combined sourcesCorresponds to variant rs1050276dbSNPEnsembl.1
Natural variantiVAR_054156363A → T.1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M21963 mRNA. Translation: AAA59847.1.
M28172 Genomic DNA. Translation: AAA59670.1.
X70856 mRNA. Translation: CAA50209.1.
X70857 mRNA. Translation: CAA50210.1.
D64152 mRNA. Translation: BAA19537.1.
D83741 mRNA. Translation: BAA32615.1.
AH008326 Genomic DNA. Translation: AAF04581.1.
U06695 mRNA. Translation: AAA92995.1.
U06696 mRNA. Translation: AAA92996.1.
X82122 mRNA. Translation: CAA57634.1.
AJ420248 Genomic DNA. Translation: CAD12433.1.
D64146 mRNA. Translation: BAA19532.1.
Y11843 mRNA. Translation: CAA72592.1.
X99704 mRNA. Translation: CAA68035.1.
AH006134 Genomic DNA. Translation: AAC17724.1.
AH006135 Genomic DNA. Translation: AAC17725.1.
Z83247 mRNA. Translation: CAB05845.1.
Z80228 Genomic DNA. Translation: CAB02409.1.
AJ249163 Genomic DNA. Translation: CAB53538.1.
AJ249164 Genomic DNA. Translation: CAB53539.1.
AJ304496 Genomic DNA. Translation: CAC19018.1.
AJ550622 Genomic DNA. Translation: CAD79471.1.
AJ550623 Genomic DNA. Translation: CAD79472.1.
PIRiA59028.
I37526.
I38507.
I54449.
I72113.
UniGeneiHs.656020.
Hs.743218.

Genome annotation databases

EnsembliENST00000420206; ENSP00000410214; ENSG00000228299.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M21963 mRNA. Translation: AAA59847.1.
M28172 Genomic DNA. Translation: AAA59670.1.
X70856 mRNA. Translation: CAA50209.1.
X70857 mRNA. Translation: CAA50210.1.
D64152 mRNA. Translation: BAA19537.1.
D83741 mRNA. Translation: BAA32615.1.
AH008326 Genomic DNA. Translation: AAF04581.1.
U06695 mRNA. Translation: AAA92995.1.
U06696 mRNA. Translation: AAA92996.1.
X82122 mRNA. Translation: CAA57634.1.
AJ420248 Genomic DNA. Translation: CAD12433.1.
D64146 mRNA. Translation: BAA19532.1.
Y11843 mRNA. Translation: CAA72592.1.
X99704 mRNA. Translation: CAA68035.1.
AH006134 Genomic DNA. Translation: AAC17724.1.
AH006135 Genomic DNA. Translation: AAC17725.1.
Z83247 mRNA. Translation: CAB05845.1.
Z80228 Genomic DNA. Translation: CAB02409.1.
AJ249163 Genomic DNA. Translation: CAB53538.1.
AJ249164 Genomic DNA. Translation: CAB53539.1.
AJ304496 Genomic DNA. Translation: CAC19018.1.
AJ550622 Genomic DNA. Translation: CAD79471.1.
AJ550623 Genomic DNA. Translation: CAD79472.1.
PIRiA59028.
I37526.
I38507.
I54449.
I72113.
UniGeneiHs.656020.
Hs.743218.

3D structure databases

ProteinModelPortaliP30508.
SMRiP30508.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP30508. 15 interactors.

PTM databases

SwissPalmiP30508.

Polymorphism and mutation databases

DMDMi34223723.

Proteomic databases

EPDiP30508.
MaxQBiP30508.
PeptideAtlasiP30508.
PRIDEiP30508.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000420206; ENSP00000410214; ENSG00000228299.

Organism-specific databases

GeneCardsiHLA-C.
HGNCiHGNC:4933. HLA-C.
MalaCardsiHLA-C.
MIMi142840. gene.
neXtProtiNX_P30508.
GenAtlasiSearch...

Phylogenomic databases

HOVERGENiHBG016709.

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-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.

Miscellaneous databases

ChiTaRSiHLA-C. human.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000228299.
CleanExiHS_HLA-C.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProiIPR007110. 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]
PfamiPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
[Graphical view]
PRINTSiPR01638. MHCCLASSI.
SMARTiSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF54452. SSF54452. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry namei1C12_HUMAN
AccessioniPrimary (citable) accession number: P30508
Secondary accession number(s): O02863
, O19652, O62882, O78062, O78166, O78211, O78214, P30509, Q29768, Q31627, Q860R1, Q860R2, Q99528, Q9GIK4, Q9TPS4, Q9UM32, Q9UM33
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: August 22, 2003
Last modified: November 2, 2016
This is version 142 of the entry and version 2 of the sequence. [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

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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.