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P30508

- 1C12_HUMAN

UniProt

P30508 - 1C12_HUMAN

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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: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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

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. immune response Source: UniProtKB
  7. interferon-gamma-mediated signaling pathway Source: Reactome
  8. positive regulation of T cell mediated cytotoxicity Source: InterPro
  9. regulation of immune response Source: Reactome
  10. type I interferon signaling pathway Source: Reactome
  11. 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-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
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:4933. HLA-C.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 308284ExtracellularSequence AnalysisAdd
BLAST
Transmembranei309 – 33325HelicalSequence AnalysisAdd
BLAST
Topological domaini334 – 36633CytoplasmicSequence AnalysisAdd
BLAST

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 vesicular exosome Source: UniProt
  6. Golgi apparatus Source: UniProt
  7. Golgi membrane Source: Reactome
  8. integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
  9. integral component of plasma membrane Source: UniProtKB
  10. MHC class I protein complex Source: UniProt
  11. phagocytic vesicle membrane Source: Reactome
  12. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane, MHC I

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Add
BLAST
Chaini25 – 366342HLA class I histocompatibility antigen, Cw-12 alpha chainPRO_0000018876Add
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

MaxQBiP30508.
PaxDbiP30508.
PRIDEiP30508.

Expressioni

Gene expression databases

CleanExiHS_HLA-C.
GenevestigatoriP30508.

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. 7 interactions.

Structurei

3D structure databases

ProteinModelPortaliP30508.
SMRiP30508. Positions 26-302.
ModBaseiSearch...
MobiDBiSearch...

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

eggNOGiNOG42056.
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]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti25 – 251C → G(PubMed:2843461)Curated
Sequence conflicti140 – 1401S → V in AAA59847. (PubMed:2843461)Curated

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_056487
Natural varianti76 – 761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056488
Natural varianti90 – 901K → N in allele Cw*12:08.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_016622
Natural varianti97 – 971A → T in allele Cw*12:05 and allele Cw*12:09.
Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
VAR_016623
Natural varianti101 – 1011S → G in allele Cw*12:07.
VAR_016624
Natural varianti101 – 1011S → N in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09.
Corresponds to variant rs2308557 [ dbSNP | Ensembl ].
VAR_016625
Natural varianti104 – 1041N → K in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09.
Corresponds to variant rs17408553 [ dbSNP | Ensembl ].
VAR_016626
Natural varianti121 – 1211R → 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.
VAR_016627
Natural varianti137 – 1371Y → H.
Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
VAR_056489
Natural varianti144 – 1441G → V in allele Cw*12:06.
VAR_016628
Natural varianti180 – 1801W → R in allele Cw*12:09.
VAR_016629
Natural varianti182 – 1821A → V.
Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
VAR_056490
Natural varianti201 – 2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056491
Natural varianti208 – 2081H → P.1 Publication
VAR_054155
Natural varianti272 – 2721V → M.
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_056492
Natural varianti363 – 3631A → T.1 Publication
VAR_054156

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.
Hs.77961.

Genome annotation databases

EnsembliENST00000420206; ENSP00000410214; ENSG00000228299.

Polymorphism databases

DMDMi34223723.

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 .
PIRi A59028.
I37526.
I38507.
I54449.
I72113.
UniGenei Hs.656020.
Hs.743218.
Hs.77961.

3D structure databases

ProteinModelPortali P30508.
SMRi P30508. Positions 26-302.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi P30508. 7 interactions.

Polymorphism databases

DMDMi 34223723.

Proteomic databases

MaxQBi P30508.
PaxDbi P30508.
PRIDEi P30508.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000420206 ; ENSP00000410214 ; ENSG00000228299 .

Organism-specific databases

GeneCardsi GC06M031236.
GC06Mk31228.
HGNCi HGNC:4933. HLA-C.
MIMi 142840. gene.
neXtProti NX_P30508.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42056.
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 P30508.

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

« Hide 'large scale' publications
  1. "Cloning and analysis of HLA class I cDNA encoding a new HLA-C specificity Cx52."
    Takata H., Inoko H., Ando A., Haranaka M., Watanabe B., Tsuji K., Iri H.
    Immunogenetics 28:265-270(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:02).
  2. "The structure and expression of genes encoding serologically undetected HLA-C locus antigens."
    Takiguchi M., Nishimura I., Hayashi H., Karaki S., Kariyone A., Kano K.
    J. Immunol. 143:1372-1378(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*12:02).
  3. "Molecular cloning and polymerase chain reaction-sequence-specific oligonucleotide detection of the allele encoding the novel allospecificity HLA-Cw6.2 (Cw*1502) in Spanish gypsies."
    Vilches C., de Pablo R., Herrero M.J., Moreno M.E., Kreisler M.
    Hum. Immunol. 37:259-263(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:02).
  4. "HLA-C alleles in Japanese and a novel allele from a non-Japanese individual."
    Wang H., Tokunaga K.
    Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE OF 1-298 (ALLELE CW*12:02).
    Tissue: Peripheral blood.
  5. "An HLA-Cw allele detected by PCR-SSO."
    Greville W.D., Ng G., Kennedy A., Kennedy C.T., Le T., Dodd R., Wallace R., Dunckley H.
    Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*12:02).
  6. "Identification of two new HLA-C alleles, Cw*1203 and Cw*1402, from the sequence analysis of seven HLA homozygous cell lines carrying HLA-C blank."
    Cereb N., Choi J.W., Lee S., Maye P., Kong Y., Yang S.Y.
    Tissue Antigens 44:193-195(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:03).
    Tissue: Blood.
  7. Pablo R.
    Submitted (OCT-1994) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*12:03).
  8. Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*12:03).
  9. "HLA-C locus polymorphisms in Japanese."
    Wang H., Tokunaga K.
    Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE OF 1-298 (ALLELE CW*12:03).
    Tissue: Peripheral blood.
  10. "A new pair of HLA-C alleles, Cw*12042 and Cw*1203, differing at the KIR-related dimorphism of codons 77-80."
    Vilches C., Bunce M., van Dam M., de Pablo R.
    Tissue Antigens 51:101-105(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*12:04).
  11. Tatari Z.
    Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE OF 1-227 (ALLELE CW*12:04).
  12. "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 [GENOMIC DNA] OF 26-206 (ALLELES CW*12:04 AND CW*12:06).
  13. "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 / MRNA] (ALLELE CW*12:05).
  14. "Nucleotide sequence of an HLA-Cw*1203 variant allele with a new polymorphic position in exon 2."
    Davey S., Dunn P.P.
    Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*12:07).
  15. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*12:08).
  16. "Identification of confirmatory sequence of Cw*1209."
    Day S., Carter V.
    Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE CW*12:09).
  17. Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-208 AND THR-363.

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: October 1, 2014
This is version 126 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

External Data

Dasty 3