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Q29960

- 1C16_HUMAN

UniProt

Q29960 - 1C16_HUMAN

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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: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. peptide antigen binding Source: UniProt

GO - Biological processi

  1. antigen processing and presentation of exogenous peptide antigen via MHC class I Source: Reactome
  2. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
  3. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent Source: Reactome
  4. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
  5. cytokine-mediated signaling pathway Source: Reactome
  6. interferon-gamma-mediated signaling pathway Source: Reactome
  7. positive regulation of T cell mediated cytotoxicity Source: InterPro
  8. regulation of immune response Source: Reactome
  9. type I interferon signaling pathway Source: Reactome
  10. viral process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Host-virus interaction, Immunity

Enzyme and pathway databases

ReactomeiREACT_111168. Endosomal/Vacuolar pathway.
REACT_111178. ER-Phagosome pathway.
REACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
REACT_25078. Interferon gamma signaling.
REACT_25162. Interferon alpha/beta signaling.
REACT_75795. 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
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:4933. HLA-C.

Subcellular locationi

GO - Cellular componenti

  1. cell surface Source: UniProt
  2. early endosome membrane Source: Reactome
  3. endoplasmic reticulum Source: UniProt
  4. ER to Golgi transport vesicle membrane Source: Reactome
  5. extracellular region Source: UniProtKB-KW
  6. Golgi apparatus Source: UniProt
  7. Golgi membrane Source: Reactome
  8. integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
  9. MHC class I protein complex Source: UniProt
  10. phagocytic vesicle membrane Source: Reactome
  11. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, MHC I, Secreted

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Add
BLAST
Chaini25 – 366342HLA class I histocompatibility antigen, Cw-16 alpha chainPRO_0000018879Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi110 – 1101N-linked (GlcNAc...)By similarity
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.
PRIDEiQ29960.

Expressioni

Gene expression databases

CleanExiHS_HLA-C.
GenevestigatoriQ29960.

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

IntActiQ29960. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ29960.
SMRiQ29960. Positions 26-302.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 308284ExtracellularSequence AnalysisAdd
BLAST
Topological domaini334 – 36633CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei309 – 33325HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini209 – 29789Ig-like C1-typeAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni25 – 11490Alpha-1Add
BLAST
Regioni115 – 20692Alpha-2Add
BLAST
Regioni207 – 29892Alpha-3Add
BLAST
Regioni299 – 30810Connecting peptide

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.
IPR027648. MHC_I_a.
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]
SUPFAMiSSF54452. SSF54452. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]

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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_056505
Natural varianti76 – 761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056506
Natural varianti90 – 901K → N.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_056507
Natural varianti101 – 1011S → N in allele Cw*16:02.
VAR_016630
Natural varianti104 – 1041N → K in allele Cw*16:02.
VAR_016631
Natural varianti137 – 1371Y → H.
Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
VAR_056508
Natural varianti153 – 1531H → D in allele Cw*16:02 and allele Cw*16:04.
VAR_016632
Natural varianti157 – 1571C → W in allele Cw*16:02 and allele Cw*16:04.
VAR_016633
Natural varianti180 – 1801Q → W in allele Cw*16:04; requires 2 nucleotide substitutions.
VAR_016634
Natural varianti182 – 1821A → V.
Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
VAR_056509
Natural varianti201 – 2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056510
Natural varianti272 – 2721V → M.
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_056511

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei299 – 33840Missing in isoform 2. CuratedVSP_008096Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
Hs.77961.

Genome annotation databases

EnsembliENST00000438171; ENSP00000393374; ENSG00000237022.

Polymorphism databases

DMDMi34305705.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
PIRi A59028.
S42823.
UniGenei Hs.656020.
Hs.743218.
Hs.77961.

3D structure databases

ProteinModelPortali Q29960.
SMRi Q29960. Positions 26-302.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q29960. 1 interaction.

Polymorphism databases

DMDMi 34305705.

Proteomic databases

MaxQBi Q29960.
PRIDEi Q29960.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000438171 ; ENSP00000393374 ; ENSG00000237022 .

Organism-specific databases

GeneCardsi GC06M031236.
GC06Ml31280.
H-InvDB HIX0078594.
HGNCi HGNC:4933. HLA-C.
MIMi 142840. gene.
neXtProti NX_Q29960.
GenAtlasi Search...

Phylogenomic databases

HOVERGENi HBG016709.

Enzyme and pathway databases

Reactomei REACT_111168. Endosomal/Vacuolar pathway.
REACT_111178. ER-Phagosome pathway.
REACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
REACT_25078. Interferon gamma signaling.
REACT_25162. Interferon alpha/beta signaling.
REACT_75795. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

Miscellaneous databases

ChiTaRSi HLA-C. human.
SOURCEi Search...

Gene expression databases

CleanExi HS_HLA-C.
Genevestigatori Q29960.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProi 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.
IPR027648. MHC_I_a.
IPR001039. MHC_I_a_a1/a2.
IPR010579. MHC_I_a_C.
[Graphical view ]
Pfami PF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
[Graphical view ]
PRINTSi PR01638. MHCCLASSI.
SMARTi SM00407. IGc1. 1 hit.
[Graphical view ]
SUPFAMi SSF54452. SSF54452. 1 hit.
PROSITEi PS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Three new class I HLA alleles: structure of mRNAs and alternative mechanisms of processing."
    Cianetti L., Testa U., Scotto L., la Valle R., Simeone A., Boccoli G., Giannella G., Peschle C., Boncinelli E.
    Immunogenetics 29:80-91(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*16:01), ALTERNATIVE SPLICING.
  2. "Molecular characterization of a novel, serologically detectable, HLA-C allele: Cw*1602."
    Vilches C., Herrero M.J., de Pablo R., Moreno M.E., Bunce M., Kreisler M.
    Hum. Immunol. 41:167-170(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*16:02).
  3. "There is more to HLA -C than exons 2 and 3: sequencing exons 1, 4 and 5."
    van der Vlies S.A., Voorter C.E., van den Berg-Loonen E.M.
    Tissue Antigens 54:169-177(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-338 (ALLELE CW*16:04).
  4. "Sequence-based typing provides a new look at HLA-C diversity."
    Turner S., Ellexson M.E., Hickman H.D., Sidebottom D.A., Fernandez-Vina M., Confer D.L., Hildebrand W.H.
    J. Immunol. 161:1406-1413(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*16:04).
  5. "Sequence of four new HLA-Cw alleles: a possible role of interallelic recombination."
    Grundschober C., Labonne M., Javaux F., Steiner Q.G., Gebuhrer L., Tiercy J.-M.
    Tissue Antigens 51:72-79(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*16:04).

Entry informationi

Entry namei1C16_HUMAN
AccessioniPrimary (citable) accession number: Q29960
Secondary accession number(s): O78091
, O78202, Q29862, Q29959, Q9MY74, Q9MYI3, Q9TNZ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: November 1, 1996
Last modified: October 29, 2014
This is version 115 of the entry and version 1 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

External Data

Dasty 3