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P30499

- 1C01_HUMAN

UniProt

P30499 - 1C01_HUMAN

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Protein

HLA class I histocompatibility antigen, Cw-1 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
  2. TAP binding Source: UniProt

GO - Biological processi

  1. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent Source: UniProt
  2. antigen processing and presentation of exogenous peptide antigen via MHC class I Source: Reactome
  3. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
  4. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent Source: Reactome
  5. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
  6. cytokine-mediated signaling pathway Source: Reactome
  7. immune response Source: UniProtKB
  8. interferon-gamma-mediated signaling pathway Source: Reactome
  9. positive regulation of T cell mediated cytotoxicity Source: InterPro
  10. regulation of immune response Source: Reactome
  11. type I interferon signaling pathway Source: Reactome
  12. 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-1 alpha chain
Alternative name(s):
MHC class I antigen Cw*1
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. Golgi apparatus Source: UniProt
  6. Golgi membrane Source: Reactome
  7. integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
  8. integral component of plasma membrane Source: UniProtKB
  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

Membrane, MHC I

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Add
BLAST
Chaini25 – 366342HLA class I histocompatibility antigen, Cw-1 alpha chainPRO_0000018868Add
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

PaxDbiP30499.
PRIDEiP30499.

Expressioni

Gene expression databases

CleanExiHS_HLA-C.
GenevestigatoriP30499.

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

Structurei

3D structure databases

ProteinModelPortaliP30499.
SMRiP30499. Positions 26-298.
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

eggNOGiNOG42056.
HOVERGENiHBG016709.
PhylomeDBiP30499.

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.

P30499-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MRVMEPRTLI LLLSGALALT ETWACSHSMK YFFTSVSRPG RGEPRFISVG
60 70 80 90 100
YVDDTQFVRF DSDAASPRGE PRAPWVEQEG PEYWDRETQK YNRQAQTDRV
110 120 130 140 150
SLRNLRGYYN QSEAGSHTLQ WMCGCDLGPD GRLLRGYDQY AYDGKDYIAL
160 170 180 190 200
NEDLRSWTAA DTAAQITQRK WEAAREAEER RAYLEGTCVE WLRRYLENGK
210 220 230 240 250
ESLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQWDGEDQTQ
260 270 280 290 300
DTELVETRPA GDGTFQKWAA VMVPSGEEQR YTCHVQHEGL PEPLTLRWEP
310 320 330 340 350
SSQPTIPIVG IVAGLAVLAV LAVLGAVVAV VMCRRKSSGG KGGSCSQAAS
360
SNSAQGSDES LIASKA
Length:366
Mass (Da):40,965
Last modified:April 1, 1993 - v1
Checksum:i285CCFCB92788744
GO

Polymorphismi

The following alleles of Cw-1 are known: Cw*01:01 (Cw1.1), Cw*01:02 (Cw1.2), Cw*01:03 and Cw*01:04. The sequence shown is that of Cw*01:01.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51E → A in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016544
Natural varianti43 – 431E → K.
Corresponds to variant rs1050438 [ dbSNP | Ensembl ].
VAR_056454
Natural varianti48 – 481S → A.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061444
Natural varianti48 – 481S → P.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061445
Natural varianti48 – 481S → T.
Corresponds to variant rs707911 [ dbSNP | Ensembl ].
VAR_061446
Natural varianti73 – 731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_056455
Natural varianti76 – 761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056456
Natural varianti90 – 901K → N.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_056457
Natural varianti92 – 921N → K in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016545
Natural varianti138 – 1381D → N in allele Cw*01:03.
VAR_016546
Natural varianti140 – 1401Y → F in allele Cw*01:03.
VAR_016547
Natural varianti140 – 1401Y → S in allele Cw*01:04.
VAR_016548
Natural varianti179 – 1791E → Q in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016549
Natural varianti180 – 1801R → W in allele Cw*01:04.
VAR_016550
Natural varianti201 – 2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056458
Natural varianti202 – 2021S → T in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016551
Natural varianti243 – 2431W → R in allele Cw*01:04.
VAR_016552
Natural varianti272 – 2721M → V in allele Cw*01:04.
VAR_016553
Natural varianti328 – 3281V → M in allele Cw*01:04.
VAR_016554
Natural varianti364 – 3641S → C in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04.
VAR_016555

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M26429 mRNA. Translation: AAA59701.1.
M16272 Genomic DNA. Translation: AAA59700.1.
M84171 mRNA. Translation: AAA59685.1.
Z46809 mRNA. Translation: CAA86839.1.
D64145 mRNA. Translation: BAA19531.1.
AJ133100 Genomic DNA. Translation: CAB38942.1.
PIRiI37528.
I54430.
I59622.
UniGeneiHs.656020.
Hs.743218.
Hs.77961.

Genome annotation databases

EnsembliENST00000438171; ENSP00000393374; ENSG00000237022.

Polymorphism databases

DMDMi231423.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M26429 mRNA. Translation: AAA59701.1 .
M16272 Genomic DNA. Translation: AAA59700.1 .
M84171 mRNA. Translation: AAA59685.1 .
Z46809 mRNA. Translation: CAA86839.1 .
D64145 mRNA. Translation: BAA19531.1 .
AJ133100 Genomic DNA. Translation: CAB38942.1 .
PIRi I37528.
I54430.
I59622.
UniGenei Hs.656020.
Hs.743218.
Hs.77961.

3D structure databases

ProteinModelPortali P30499.
SMRi P30499. Positions 26-298.
ModBasei Search...
MobiDBi Search...

Polymorphism databases

DMDMi 231423.

Proteomic databases

PaxDbi P30499.
PRIDEi P30499.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000438171 ; ENSP00000393374 ; ENSG00000237022 .

Organism-specific databases

GeneCardsi GC06M031236.
GC06Ml31280.
HGNCi HGNC:4933. HLA-C.
MIMi 142840. gene.
neXtProti NX_P30499.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42056.
HOVERGENi HBG016709.
PhylomeDBi P30499.

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 P30499.

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. "Complete nucleotide sequence of a unique HLA class I C locus product expressed on the human choriocarcinoma cell line BeWo."
    Ellis S.A., Strachan T., Palmer M.S., McMichael A.J.
    J. Immunol. 142:3281-3285(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:01).
  2. "Isolation, expression, and the primary structure of HLA-Cw1 and HLA-Cw2 genes: evolutionary aspects."
    Gussow D., Rein R.S., Meijer I., de Hoog W., Seemann G.H., Hochstenbach F.M., Ploegh H.L.
    Immunogenetics 25:313-322(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CW*01:02).
  3. "The molecular basis for reactivity of anti-Cw1 and anti-Cw3 alloantisera with HLA-B46 haplotypes."
    Zemmour J., Gumperz J.E., Hildebrand W.H., Ward F.E., Marsh S.G.E., Williams R.C., Parham P.
    Tissue Antigens 39:249-257(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:02).
  4. "HLA class I alleles of LCL 721 and 174 x CEM.T2 (T2)."
    Steinle A., Schendel D.J.
    Tissue Antigens 44:268-270(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-206 (ALLELE CW*01:02).
  5. "Cw*0103, a new allele encoding for a novel HLA-Cw1 split in the Japanese population."
    Wang H., Nakajima F., Tokunaga K., Kashiwase K., Ishikawa Y., Juji T.
    Tissue Antigens 51:571-573(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*01:03).
    Tissue: Peripheral blood.
  6. "Full length sequencing of a new Cw*01 variant allele."
    Day S.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*01:04).

Entry informationi

Entry namei1C01_HUMAN
AccessioniPrimary (citable) accession number: P30499
Secondary accession number(s): O02865
, O19676, P30500, Q29986, Q9UQS9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: October 1, 2014
This is version 117 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