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P30510 (1C14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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-14 alpha chain
Alternative name(s):
MHC class I antigen Cw*14
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 transcript 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.

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-14 are known: Cw*14:02 (CB-1), Cw*14:03 (CX44) and Cw*14:04. The sequence shown is that of Cw*14:02.

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 termComplete 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

immune response

Non-traceable author statement Ref.1. Source: UniProtKB

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 apparatus

Inferred from sequence or structural similarity. Source: UniProt

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

endoplasmic reticulum

Inferred from sequence or structural similarity. Source: UniProt

integral component of lumenal side of endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of plasma membrane

Non-traceable author statement Ref.1. Source: UniProtKB

phagocytic vesicle membrane

Traceable author statement. Source: Reactome

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionpeptide 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-14 alpha chain
PRO_0000018877

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 variant451R → H in allele Cw*14:03.
VAR_016636
Natural variant731A → E.
Corresponds to variant rs1050409 [ dbSNP | Ensembl ].
VAR_056493
Natural variant761V → M.
Corresponds to variant rs1065382 [ dbSNP | Ensembl ].
VAR_056494
Natural variant901K → N.
Corresponds to variant rs28626310 [ dbSNP | Ensembl ].
VAR_056495
Natural variant971T → A in allele Cw*14:04.
VAR_016637
Natural variant1011S → N in allele Cw*14:03.
VAR_016638
Natural variant1371Y → H.
Corresponds to variant rs2308574 [ dbSNP | Ensembl ].
VAR_056496
Natural variant1821A → V.
Corresponds to variant rs1059539 [ dbSNP | Ensembl ].
VAR_056497
Natural variant2011E → K.
Corresponds to variant rs1131103 [ dbSNP | Ensembl ].
VAR_056498
Natural variant2721V → M. Ref.1
Corresponds to variant rs1050276 [ dbSNP | Ensembl ].
VAR_056499

Experimental info

Sequence conflict161A → T in AAA92994. Ref.2
Sequence conflict431E → G in AAA92994. Ref.2
Sequence conflict2021T → S in AAA59669. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P30510 [UniParc].

Last modified August 29, 2003. Version 2.
Checksum: 792D335D12D6547E

FASTA36640,838
        10         20         30         40         50         60 
MRVMAPRTLI LLLSGALALT ETWACSHSMR YFSTSVSRPG RGEPRFIAVG YVDDTQFVRF 

        70         80         90        100        110        120 
DSDAASPRGE PRAPWVEQEG PEYWDRETQK YKRQAQTDRV SLRNLRGYYN QSEAGSHTLQ 

       130        140        150        160        170        180 
WMFGCDLGPD GRLLRGYDQS 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 PEPLTLRWEP 

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


LIACKA 

« Hide

References

[1]"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*14:02), VARIANT MET-272.
[2]"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*14:02).
Tissue: Blood.
[3]Zhang L., Ellexson M.E., Hildebrand W.H.
Submitted (NOV-1995) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE (ALLELE CW*14:02).
[4]"DNA typing of Cw*14 alleles in Japanese and the corrected sequence of Cw*1402."
Wang H., Tokunaga K., Ogawa A., Akaza T., Tadokoro K., Takiguchi M., Shibata Y., Juji T.
Tissue Antigens 47:442-446(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 26-298 (ALLELE CW*14:02).
Tissue: Blood.
[5]"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 (ALLELE CW*14:02).
[6]"A new HLA-C allele, Cw*1403, associated with HLA-B44 in Japanese."
Wang H., Tokunaga K., Ishikawa Y., Lin L., Kashiwase K., Nakajima F., Ogawa A., Kuwata S., Akaza T., Tadokoro K., Shibata Y., Yoshikura H., Juji T.
Hum. Immunol. 43:295-300(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CW*14:03).
Tissue: Blood.
[7]"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*14:03).
[8]"HLA-Cw*1404: a new HLA-C allele with a hybrid 77Asn-80Asn NK motif."
Santos S., Vicario J.L., Aviles M.J., Garcia-Sanchez F., Balas A.
Immunogenetics 51:610-612(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-206 (ALLELE CW*14:04).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M28171 Genomic DNA. Translation: AAA59669.1.
U06487 mRNA. Translation: AAA92994.1.
U41386 mRNA. Translation: AAC32743.1.
D49820 mRNA. Translation: BAA89793.1.
AH006136 Genomic DNA. Translation: AAC17726.1.
D31817 mRNA. Translation: BAA06604.1.
AJ420249 Genomic DNA. Translation: CAD12434.1.
AH007516 Genomic DNA. Translation: AAD21014.1.
PIRI56034.
UniGeneHs.656020.
Hs.743218.
Hs.77961.

3D structure databases

ProteinModelPortalP30510.
SMRP30510. Positions 26-298.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActP30510. 1 interaction.

Proteomic databases

PRIDEP30510.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000438171; ENSP00000393374; ENSG00000237022.

Organism-specific databases

GeneCardsGC06M031236.
GC06Ml31280.
HGNCHGNC:4933. HLA-C.
MIM142840. gene.
neXtProtNX_P30510.
GenAtlasSearch...

Phylogenomic databases

HOVERGENHBG016709.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

CleanExHS_HLA-C.
GenevestigatorP30510.

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.
SOURCESearch...

Entry information

Entry name1C14_HUMAN
AccessionPrimary (citable) accession number: P30510
Secondary accession number(s): O62879 expand/collapse secondary AC list , O78178, Q29641, Q30192, Q9MY35, Q9TQJ5
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: August 29, 2003
Last modified: July 9, 2014
This is version 117 of the entry and version 2 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

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