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P30504 (1C04_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
HLA class I histocompatibility antigen, Cw-4 alpha chain
Alternative name(s):
MHC class I antigen Cw*4
Gene names
Name:HLA-C
Synonyms:HLAC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length366 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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. Ref.9

Subcellular location

Membrane; Single-pass type I membrane protein.

Post-translational modification

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.

Polymorphism

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.

Sequence similarities

Belongs to the MHC class I family.

Contains 1 Ig-like C1-type (immunoglobulin-like) domain.

Ontologies

Keywords
   Biological processHost-virus interaction
Immunity
   Cellular componentMembrane
MHC I
   Coding sequence diversityPolymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Ubl conjugation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processantigen processing and presentation of exogenous peptide antigen via MHC class I

Traceable author statement. Source: Reactome

antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent

Traceable author statement. Source: Reactome

antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent

Traceable author statement. Source: Reactome

antigen processing and presentation of peptide antigen via MHC class I

Traceable author statement. Source: Reactome

cytokine-mediated signaling pathway

Traceable author statement. Source: Reactome

innate immune response

Traceable author statement. Source: Reactome

interferon-gamma-mediated signaling pathway

Traceable author statement. Source: Reactome

positive regulation of T cell mediated cytotoxicity

Inferred from electronic annotation. Source: InterPro

regulation of immune response

Traceable author statement. Source: Reactome

type I interferon signaling pathway

Traceable author statement. Source: Reactome

viral process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentER to Golgi transport vesicle membrane

Traceable author statement. Source: Reactome

Golgi membrane

Traceable author statement. Source: Reactome

MHC class I protein complex

Inferred from sequence or structural similarity. Source: UniProt

cell surface

Inferred from sequence or structural similarity. Source: UniProt

early endosome membrane

Traceable author statement. Source: Reactome

integral component of lumenal side of endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

phagocytic vesicle membrane

Traceable author statement. Source: Reactome

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionTAP binding

Inferred from direct assay PubMed 8617941. Source: UniProt

peptide antigen binding

Inferred from sequence or structural similarity. Source: UniProt

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424
Chain25 – 366342HLA class I histocompatibility antigen, Cw-4 alpha chain
PRO_0000018871

Regions

Topological domain25 – 308284Extracellular Potential
Transmembrane309 – 33325Helical; Potential
Topological domain334 – 36633Cytoplasmic Potential
Domain209 – 29789Ig-like C1-type
Region25 – 11490Alpha-1
Region115 – 20692Alpha-2
Region207 – 29892Alpha-3
Region299 – 30810Connecting peptide

Amino acid modifications

Glycosylation1101N-linked (GlcNAc...) By similarity
Disulfide bond125 ↔ 188 By similarity
Disulfide bond227 ↔ 283 By similarity

Natural variations

Natural variant331S → Y in allele Cw*04:03 and allele Cw*04:06.
VAR_016571
Natural variant351S → A in allele Cw*04:03 and allele Cw*04:06.
VAR_016572
Natural variant381W → R in allele Cw*04:03 and allele Cw*04:06.
VAR_016573
Natural variant401G → S in allele Cw*04:03 and allele Cw*04:06.
VAR_016574
Natural variant451R → H in allele Cw*04:03 and allele Cw*04:06.
VAR_016575
Natural variant521V → L in allele Cw*04:05.
VAR_016576
Natural variant731E → A in allele Cw*04:03 and allele Cw*04:06.
VAR_016577
Natural variant761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056464
Natural variant901K → N.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_056465
Natural variant971A → T.
Corresponds to variant rs41543814 [ dbSNP | Ensembl ].
VAR_056466
Natural variant1801R → L in allele Cw*04:04 and allele Cw*04:06.
VAR_016578
Natural variant1821A → V.
Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
VAR_056467
Natural variant2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056468
Natural variant2721V → M.
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_056469
Natural variant3271M → V in allele Cw*04:03 and allele Cw*04:06.
VAR_016579

Secondary structure

................................................... 366
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P30504 [UniParc].

Last modified April 1, 1993. Version 1.
Checksum: E883EB3968658DCB

FASTA36640,995
        10         20         30         40         50         60 
MRVMAPRTLI LLLSGALALT ETWAGSHSMR YFSTSVSWPG RGEPRFIAVG YVDDTQFVRF 

        70         80         90        100        110        120 
DSDAASPRGE PREPWVEQEG PEYWDRETQK YKRQAQADRV NLRKLRGYYN QSEDGSHTLQ 

       130        140        150        160        170        180 
RMFGCDLGPD GRLLRGYNQF AYDGKDYIAL NEDLRSWTAA DTAAQITQRK WEAAREAEQR 

       190        200        210        220        230        240 
RAYLEGTCVE WLRRYLENGK ETLQRAEHPK THVTHHPVSD HEATLRCWAL GFYPAEITLT 

       250        260        270        280        290        300 
WQWDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWKP 

       310        320        330        340        350        360 
SSQPTIPIVG IVAGLAVLAV LAVLGAMVAV VMCRRKSSGG KGGSCSQAAS SNSAQGSDES 


LIACKA 

« Hide

References

[1]"Unusual HLA-B alleles in two tribes of Brazilian Indians."
Belich M.P., Madrigal J.A., Hildebrand W.H., Zemmour J., Williams R.C., Luz R., Petzl-Erler M.L., Parham P.
Nature 357:326-329(1992) [PubMed] [Europe PMC] [Abstract]
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]"Cloning and sequencing full-length HLA-B and -C genes."
Cox S.T., McWhinnie A.J., Robinson J., Marsh S.G.E., Parham P., Madrigal J.A., Little A.-M.
Tissue Antigens 61:20-48(2003) [PubMed] [Europe PMC] [Abstract]
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]"Characterization of a novel HLA-Cw*04 variant in a Laotian family: HLA-Cw*0406."
Carbonnelle E., Poirier J.C., Fortier C., Marzais F., Visser C.J.T., Borie C., Toubert A., Raffoux C., Charron D., Tamouza R.
Tissue Antigens 53:601-603(1999) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA59028.
JH0526.
UniGeneHs.656020.
Hs.743218.
Hs.77961.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1IM9X-ray2.80A/E25-299[»]
1QQDX-ray2.70A26-298[»]
ProteinModelPortalP30504.
SMRP30504. Positions 26-298.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActP30504. 12 interactions.
MINTMINT-101019.

Polymorphism databases

DMDM231433.

Proteomic databases

PaxDbP30504.
PRIDEP30504.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000400341; ENSP00000383195; ENSG00000206435.
ENST00000400394; ENSP00000383244; ENSG00000206452.

Organism-specific databases

GeneCardsGC06M031236.
GC06Mn31226.
GC06Mo31229.
HGNCHGNC:4933. HLA-C.
MIM142840. gene.
neXtProtNX_P30504.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42056.
HOVERGENHBG016709.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

CleanExHS_HLA-C.
GenevestigatorP30504.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProIPR007110. 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]
PfamPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
[Graphical view]
PRINTSPR01638. MHCCLASSI.
SMARTSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMSSF54452. SSF54452. 1 hit.
PROSITEPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHLA-C. human.
EvolutionaryTraceP30504.
SOURCESearch...

Entry information

Entry name1C04_HUMAN
AccessionPrimary (citable) accession number: P30504
Secondary accession number(s): O78067 expand/collapse secondary AC list , O78072, O78090, O78149, Q29921, Q9UM42
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: April 16, 2014
This is version 121 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM