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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: -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 processImmunity

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
MIMi142840 gene
neXtProtiNX_P30508

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

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...) 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

EPDiP30508
MaxQBiP30508
PeptideAtlasiP30508
PRIDEiP30508

PTM databases

GlyConnecti1352
SwissPalmiP30508

Expressioni

Gene expression databases

CleanExiHS_HLA-C

Interactioni

Subunit structurei

Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin).By similarity

Protein-protein interaction databases

IntActiP30508, 18 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
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
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
PS00290 IG_MHC, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 54 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 54 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
P103211C07_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
P304991C01_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
Q299631C06_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
P305041C04_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
P042221C03_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
P305011C02_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
Q956041C17_HUMAN
HLA class I histocompatibility anti...
HLA-C D6S204, HLA-JY3, HLAC
372Annotation score:
Q070001C15_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
Q9TNN71C05_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
Q299601C16_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
There are more potential isoformsShow all

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 dbSNP:rs1050409Ensembl.1
Natural variantiVAR_05648876V → M. Corresponds to variant dbSNP:rs1065382Ensembl.1
Natural variantiVAR_01662290K → N in allele Cw*12:08. Corresponds to variant dbSNP:rs28626310Ensembl.1
Natural variantiVAR_01662397A → T in allele Cw*12:05 and allele Cw*12:09. Corresponds to variant dbSNP:rs41543814Ensembl.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 dbSNP:rs2308557Ensembl.1
Natural variantiVAR_016626104N → K in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09. Corresponds to variant dbSNP:rs17408553Ensembl.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 dbSNP:rs2308574Ensembl.1
Natural variantiVAR_016628144G → V in allele Cw*12:06. 1
Natural variantiVAR_016629180W → R in allele Cw*12:09. 1
Natural variantiVAR_056491201E → K. Corresponds to variant dbSNP:rs1131103Ensembl.1
Natural variantiVAR_054155208H → P1 Publication1
Natural variantiVAR_056492272V → MCombined sourcesCorresponds to variant dbSNP:rs1050276Ensembl.1
Natural variantiVAR_054156363A → T1 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

Similar proteinsi

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, 18 interactors

PTM databases

GlyConnecti1352
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

DisGeNETi3107
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

CleanExiHS_HLA-C

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
IPR003006 Ig/MHC_CS
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
PS00290 IG_MHC, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: August 22, 2003
Last modified: October 10, 2018
This is version 154 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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