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Protein

HLA class I histocompatibility antigen, Cw-17 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-17 alpha chain
Alternative name(s):
MHC class I antigen Cw*17
Gene namesi
Name:HLA-C
Synonyms:D6S204, HLA-JY3, HLAC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:4933 HLA-C
MIMi142840 gene
neXtProtiNX_Q95604

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 – 317ExtracellularSequence analysisAdd BLAST293
Transmembranei318 – 338HelicalSequence analysisAdd BLAST21
Topological domaini339 – 372CytoplasmicSequence analysisAdd BLAST34

Keywords - Cellular componenti

Membrane, MHC I

Pathology & Biotechi

Organism-specific databases

DisGeNETi3107
MalaCardsiHLA-C

Polymorphism and mutation databases

DMDMi34395506

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Add BLAST24
ChainiPRO_000001888025 – 372HLA class I histocompatibility antigen, Cw-17 alpha chainAdd BLAST348

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...) asparagine1 Publication1
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

EPDiQ95604
MaxQBiQ95604
PeptideAtlasiQ95604
PRIDEiQ95604

PTM databases

iPTMnetiQ95604
SwissPalmiQ95604

Expressioni

Gene expression databases

CleanExiHS_HLA-C

Interactioni

Subunit structurei

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

IntActiQ95604, 7 interactors

Structurei

3D structure databases

ProteinModelPortaliQ95604
SMRiQ95604
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 – 317Connecting peptideAdd BLAST19

Sequence similaritiesi

Belongs to the MHC class I family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

HOVERGENiHBG016709
InParanoidiQ95604
PhylomeDBiQ95604

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.iShow all

Q95604-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRVMAPQALL LLLSGALALI ETWAGSHSMR YFYTAVSRPG RGEPRFIAVG
60 70 80 90 100
YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQADRV
110 120 130 140 150
NLRKLRGYYN QSEAGSHTIQ RMYGCDLGPD GRLLRGYNQF AYDGKDYIAL
160 170 180 190 200
NEDLRSWTAA DTAAQISQRK LEAAREAEQL RAYLEGECVE WLRGYLENGK
210 220 230 240 250
ETLQRAERPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ
260 270 280 290 300
DTELVETRPA GDGTFQKWAA VVVPSGQEQR YTCHVQHEGL QEPCTLRWKP
310 320 330 340 350
SSQPTIPNLG IVSGPAVLAV LAVLAVLAVL GAVVAAVIHR RKSSGGKGGS
360 370
CSQAASSNSA QGSDESLIAC KA
Length:372
Mass (Da):41,238
Last modified:February 1, 1997 - v1
Checksum:iD5DDCE6361D93AA2
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:
Q070001C15_HUMAN
HLA class I histocompatibility anti...
HLA-C HLAC
366Annotation score:
P305081C12_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

Polymorphismi

Cw*17 appears at low frequencies in Caucasoid and Mongoloid populations (gene frequency 0.41 % in English Caucasoids, 0% in Japanese), but seems to be a common specificity in populations of African origin (PubMed:9098935). The following alleles of Cw-17 are known: Cw*17:01, Cw*17:02 and Cw*17:03. The sequence shown is that of Cw*17:01.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0166487 – 8QA → RT in allele Cw*17:02. 2
Natural variantiVAR_01664910L → I in allele Cw*17:02. 1
Natural variantiVAR_01665024A → T in allele Cw*17:03. 1
Natural variantiVAR_05651273A → E. Corresponds to variant dbSNP:rs1050409Ensembl.1
Natural variantiVAR_05651376V → M. Corresponds to variant dbSNP:rs1065382Ensembl.1
Natural variantiVAR_05651490K → N. Corresponds to variant dbSNP:rs28626310Ensembl.1
Natural variantiVAR_05651597A → T. Corresponds to variant dbSNP:rs41543814Ensembl.1
Natural variantiVAR_056516272V → M. Corresponds to variant dbSNP:rs1050276Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U62824 mRNA Translation: AAB67322.1
X98742 mRNA Translation: CAA67294.1
Y10520 mRNA Translation: CAA71531.1
AJ420252 Genomic DNA Translation: CAD12437.1
D64149 mRNA Translation: BAA20857.1
Y18537
, Y18538, Y18539, Y18540, Y18541 Genomic DNA Translation: CAB71837.1
U06835 mRNA Translation: AAA17674.1
PIRiA59028
UniGeneiHs.656020
Hs.743218

Genome annotation databases

EnsembliENST00000400341; ENSP00000383195; ENSG00000206435
ENST00000400394; ENSP00000383244; ENSG00000206452

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry namei1C17_HUMAN
AccessioniPrimary (citable) accession number: Q95604
Secondary accession number(s): O02864
, O02958, Q29643, Q9MY30
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: February 1, 1997
Last modified: September 12, 2018
This is version 141 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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