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P30504

- 1C04_HUMAN

UniProt

P30504 - 1C04_HUMAN

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Protein
HLA class I histocompatibility antigen, Cw-4 alpha chain
Gene
HLA-C, HLAC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. TAP binding Source: UniProt
  2. peptide antigen binding Source: UniProt
Complete GO annotation...

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. innate immune response Source: Reactome
  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_147694. DAP12 interactions.
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-4 alpha chain
Alternative name(s):
MHC class I antigen Cw*4
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 – 308284Extracellular Reviewed prediction
Add
BLAST
Transmembranei309 – 33325Helical; Reviewed prediction
Add
BLAST
Topological domaini334 – 36633Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. ER to Golgi transport vesicle membrane Source: Reactome
  2. Golgi apparatus Source: UniProt
  3. Golgi membrane Source: Reactome
  4. MHC class I protein complex Source: UniProt
  5. cell surface Source: UniProt
  6. early endosome membrane Source: Reactome
  7. endoplasmic reticulum Source: UniProt
  8. integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
  9. phagocytic vesicle membrane Source: Reactome
  10. 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 – 2424
Add
BLAST
Chaini25 – 366342HLA class I histocompatibility antigen, Cw-4 alpha chain
PRO_0000018871Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi110 – 1101N-linked (GlcNAc...) By similarity
Disulfide bondi125 ↔ 188 By similarity
Disulfide bondi227 ↔ 283 By similarity

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.

Keywords - PTMi

Disulfide bond, Glycoprotein, Ubl conjugation

Proteomic databases

PaxDbiP30504.
PRIDEiP30504.

Expressioni

Gene expression databases

CleanExiHS_HLA-C.
GenevestigatoriP30504.

Interactioni

Subunit structurei

Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein By similarity. Interacts with HTLV-1 p12I accessory protein.1 Publication

Protein-protein interaction databases

IntActiP30504. 12 interactions.
MINTiMINT-101019.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi27 – 3711
Beta strandi45 – 528
Beta strandi55 – 6612
Beta strandi70 – 734
Helixi74 – 774
Helixi81 – 10828
Beta strandi113 – 1153
Beta strandi117 – 12711
Beta strandi129 – 14214
Beta strandi145 – 1506
Beta strandi157 – 1615
Helixi162 – 17312
Helixi176 – 18510
Helixi187 – 19812
Helixi200 – 2034
Beta strandi210 – 2178
Beta strandi219 – 2213
Beta strandi223 – 23513
Beta strandi238 – 2436
Helixi249 – 2513
Beta strandi252 – 2543
Beta strandi261 – 2633
Beta strandi265 – 2739
Helixi278 – 2803
Beta strandi281 – 2866
Beta strandi290 – 2923
Beta strandi294 – 2963

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1IM9X-ray2.80A/E25-299[»]
1QQDX-ray2.70A26-298[»]
ProteinModelPortaliP30504.
SMRiP30504. Positions 26-298.

Miscellaneous databases

EvolutionaryTraceiP30504.

Family & Domainsi

Domains and Repeats

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

Region

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

Sequence similaritiesi

Belongs to the MHC class I family.

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.

P30504-1 [UniParc]FASTAAdd to Basket

« Hide

MRVMAPRTLI LLLSGALALT ETWAGSHSMR YFSTSVSWPG RGEPRFIAVG    50
YVDDTQFVRF DSDAASPRGE PREPWVEQEG PEYWDRETQK YKRQAQADRV 100
NLRKLRGYYN QSEDGSHTLQ RMFGCDLGPD GRLLRGYNQF AYDGKDYIAL 150
NEDLRSWTAA DTAAQITQRK WEAAREAEQR RAYLEGTCVE WLRRYLENGK 200
ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT WQWDGEDQTQ 250
DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWKP 300
SSQPTIPIVG IVAGLAVLAV LAVLGAMVAV VMCRRKSSGG KGGSCSQAAS 350
SNSAQGSDES LIACKA 366
Length:366
Mass (Da):40,995
Last modified:April 1, 1993 - v1
Checksum:iE883EB3968658DCB
GO

Polymorphismi

The following alleles of Cw-4 are known: Cw*04:01 Cw*04:03, Cw*04:04, Cw*04:05 and Cw*04:06. The sequence shown is that of Cw*04:01.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331S → Y in allele Cw*04:03 and allele Cw*04:06.
VAR_016571
Natural varianti35 – 351S → A in allele Cw*04:03 and allele Cw*04:06.
VAR_016572
Natural varianti38 – 381W → R in allele Cw*04:03 and allele Cw*04:06.
VAR_016573
Natural varianti40 – 401G → S in allele Cw*04:03 and allele Cw*04:06.
VAR_016574
Natural varianti45 – 451R → H in allele Cw*04:03 and allele Cw*04:06.
VAR_016575
Natural varianti52 – 521V → L in allele Cw*04:05.
VAR_016576
Natural varianti73 – 731E → A in allele Cw*04:03 and allele Cw*04:06.
VAR_016577
Natural varianti76 – 761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056464
Natural varianti90 – 901K → N.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_056465
Natural varianti97 – 971A → T.
Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
VAR_056466
Natural varianti180 – 1801R → L in allele Cw*04:04 and allele Cw*04:06.
VAR_016578
Natural varianti182 – 1821A → V.
Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
VAR_056467
Natural varianti201 – 2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056468
Natural varianti272 – 2721V → M.
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_056469
Natural varianti327 – 3271M → V in allele Cw*04:03 and allele Cw*04:06.
VAR_016579

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M84386 mRNA. Translation: AAA59705.1.
X58536 mRNA. Translation: CAA41427.1.
AJ278494 Genomic DNA. Translation: CAB95011.1.
AJ238694 Genomic DNA. Translation: CAB41889.2.
L54059 Genomic DNA. Translation: AAB04639.1.
AH006129 Genomic DNA. Translation: AAC17719.1.
AH006130 Genomic DNA. Translation: AAC17720.1.
AF076476 Genomic DNA. Translation: AAC27626.1.
AH006107 Genomic DNA. Translation: AAC16245.1.
PIRiA59028.
JH0526.
UniGeneiHs.656020.
Hs.743218.
Hs.77961.

Genome annotation databases

EnsembliENST00000400341; ENSP00000383195; ENSG00000206435.
ENST00000400394; ENSP00000383244; ENSG00000206452.

Polymorphism databases

DMDMi231433.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M84386 mRNA. Translation: AAA59705.1 .
X58536 mRNA. Translation: CAA41427.1 .
AJ278494 Genomic DNA. Translation: CAB95011.1 .
AJ238694 Genomic DNA. Translation: CAB41889.2 .
L54059 Genomic DNA. Translation: AAB04639.1 .
AH006129 Genomic DNA. Translation: AAC17719.1 .
AH006130 Genomic DNA. Translation: AAC17720.1 .
AF076476 Genomic DNA. Translation: AAC27626.1 .
AH006107 Genomic DNA. Translation: AAC16245.1 .
PIRi A59028.
JH0526.
UniGenei Hs.656020.
Hs.743218.
Hs.77961.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1IM9 X-ray 2.80 A/E 25-299 [» ]
1QQD X-ray 2.70 A 26-298 [» ]
ProteinModelPortali P30504.
SMRi P30504. Positions 26-298.
ModBasei Search...

Protein-protein interaction databases

IntActi P30504. 12 interactions.
MINTi MINT-101019.

Polymorphism databases

DMDMi 231433.

Proteomic databases

PaxDbi P30504.
PRIDEi P30504.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000400341 ; ENSP00000383195 ; ENSG00000206435 .
ENST00000400394 ; ENSP00000383244 ; ENSG00000206452 .

Organism-specific databases

GeneCardsi GC06M031236.
GC06Mn31226.
GC06Mo31229.
HGNCi HGNC:4933. HLA-C.
MIMi 142840. gene.
neXtProti NX_P30504.
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_147694. DAP12 interactions.
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.
EvolutionaryTracei P30504.
SOURCEi Search...

Gene expression databases

CleanExi HS_HLA-C.
Genevestigatori P30504.

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. Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*04:01).
  2. "Human immunodeficiency virus type 1 gp120 mimics a hidden monomorphic epitope borne by class I major histocompatibility complex heavy chains."
    Grassi F., Meneveri R., Gullberg M., Lopalco L., Rossi G.B., Lanza P., de Santis C., Brattsand G., Butto S., Ginelli E., Beretta A., Siccardi A.G.
    J. Exp. Med. 174:53-62(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*04:01).
  3. Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*04:01).
    Tissue: Blood.
  4. "A sequencing strategy for the rapid sequencing of HLA class I genes using random in vitro DNA transposition."
    Dunn P.P., van Dam M., Crosby I., Carter V.
    Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE OF 1-365 (ALLELE CW*04:01).
  5. "HLA-C typing of eleven Papua New Guineans: identification of an HLA-Cw4/Cw2 hybrid allele."
    Little A.-M., Mason A., Marsh S.G.E., Parham P.
    Tissue Antigens 48:113-117(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*04:03).
    Tissue: B-cell.
  6. "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 (ALLELES CW*04:04 AND CW*04:05).
  7. "Identification of a novel HLA-C allele, Cw*0406, in a Singapore Malay."
    Ren E.C., Haniff F., Loh M.T., Chan S.H., Petersdorf E., Hansen J.
    Tissue Antigens 53:198-200(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*04:06).
  8. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*04:06).
  9. "Free major histocompatibility complex class I heavy chain is preferentially targeted for degradation by human T-cell leukemia/lymphotropic virus type 1 p12(I) protein."
    Johnson J.M., Nicot C., Fullen J., Ciminale V., Casareto L., Mulloy J.C., Jacobson S., Franchini G.
    J. Virol. 75:6086-6094(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HTLV-1 ACCESSORY PROTEIN P12I.

Entry informationi

Entry namei1C04_HUMAN
AccessioniPrimary (citable) accession number: P30504
Secondary accession number(s): O78067
, O78072, O78090, O78149, Q29921, Q9UM42
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: September 3, 2014
This is version 123 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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