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Protein

HLA class I histocompatibility antigen, Cw-16 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.By similarity

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-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-16 alpha chain
Alternative name(s):
MHC class I antigen Cw*16
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

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

Cell membrane, Membrane, MHC I, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi3107.
MalaCardsiHLA-C.

Polymorphism and mutation databases

DMDMi34305705.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Add BLAST24
ChainiPRO_000001887925 – 366HLA class I histocompatibility antigen, Cw-16 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

MaxQBiQ29960.
PeptideAtlasiQ29960.
PRIDEiQ29960.

PTM databases

SwissPalmiQ29960.

Expressioni

Gene expression databases

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

Binary interactionsi

WithEntry#Exp.IntActNotes
KIR2DL3P436282EBI-6163576,EBI-8632435

Protein-protein interaction databases

IntActiQ29960. 5 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ29960.
SMRiQ29960.
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.
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.
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.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q29960-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRVMAPRTLI LLLSGALALT ETWACSHSMR YFYTAVSRPG RGEPRFIAVG
60 70 80 90 100
YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQTDRV
110 120 130 140 150
SLRNLRGYYN QSEAGSHTLQ WMYGCDLGPD GRLLRGYDQS AYDGKDYIAL
160 170 180 190 200
NEHLRSCTAA DTAAQITQRK WEAARAAEQQ RAYLEGTCVE WLRRYLENGK
210 220 230 240 250
ETLQRAEHPK THVTHHLVSD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ
260 270 280 290 300
DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWEP
310 320 330 340 350
SSQPTIPIVG IVAGLAVLAV LAVLGAVVAV VMCRRKSSGG KGGSCSQAAS
360
SNSAQGSDES LIACKA
Length:366
Mass (Da):40,753
Last modified:November 1, 1996 - v1
Checksum:i5F8001BB016F1610
GO
Isoform 2 (identifier: Q29960-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     299-338: Missing.

Show »
Length:326
Mass (Da):36,798
Checksum:i36D4589A9670C0B5
GO

Polymorphismi

The following alleles of Cw-16 are known: Cw*16:01, Cw*16:02 (CW*CL10V) and Cw*16:04. The sequence shown is that of Cw*16:01.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05650573A → E. Corresponds to variant dbSNP:rs1050409Ensembl.1
Natural variantiVAR_05650676V → M. Corresponds to variant dbSNP:rs1065382Ensembl.1
Natural variantiVAR_05650790K → N. Corresponds to variant dbSNP:rs28626310Ensembl.1
Natural variantiVAR_016630101S → N in allele Cw*16:02. 1
Natural variantiVAR_016631104N → K in allele Cw*16:02. 1
Natural variantiVAR_056508137Y → H. Corresponds to variant dbSNP:rs2308574Ensembl.1
Natural variantiVAR_016632153H → D in allele Cw*16:02 and allele Cw*16:04. 1
Natural variantiVAR_016633157C → W in allele Cw*16:02 and allele Cw*16:04. 1
Natural variantiVAR_016634180Q → W in allele Cw*16:04; requires 2 nucleotide substitutions. 1
Natural variantiVAR_056509182A → V. Corresponds to variant dbSNP:rs1059539Ensembl.1
Natural variantiVAR_056510201E → K. Corresponds to variant dbSNP:rs1131103Ensembl.1
Natural variantiVAR_056511272V → MCombined sourcesCorresponds to variant dbSNP:rs1050276Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008096299 – 338Missing in isoform 2. CuratedAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M24097 mRNA. Translation: AAA59656.1.
M24097 mRNA. Translation: AAA59657.1.
X76189 mRNA. Translation: CAA53783.1.
AJ011883 Genomic DNA. Translation: CAB65547.1.
Y18657, Y18658, Y18659 Genomic DNA. Translation: CAB72095.1.
Y18139 Genomic DNA. Translation: CAB71932.1.
AH006138 Genomic DNA. Translation: AAC17728.1.
Z75172 Genomic DNA. Translation: CAA99487.1.
PIRiA59028.
S42823.
UniGeneiHs.656020.
Hs.743218.

Genome annotation databases

EnsembliENST00000438171; ENSP00000393374; ENSG00000237022.
UCSCiuc063wnd.1. human. [Q29960-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry namei1C16_HUMAN
AccessioniPrimary (citable) accession number: Q29960
Secondary accession number(s): O78091
, O78202, Q29862, Q29959, Q9MY74, Q9MYI3, Q9TNZ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: November 1, 1996
Last modified: August 30, 2017
This is version 134 of the entry and version 1 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. 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