Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HLA-C (major histocompatibility complex, class I, C)

Identity

Other namesD6S204
HLA-JY3
HLC-C
PSORS1
HGNC (Hugo) HLA-C
LocusID (NCBI) 3107
Location 6p21.33
Location_base_pair Starts at 31236526 and ends at 31239913 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)HLA-C   4933
Cards
Entrez_Gene (NCBI)HLA-C  3107  major histocompatibility complex, class I, C
GeneCards (Weizmann)HLA-C
Ensembl (Hinxton)ENSG00000204525 [Gene_View]  chr6:31236526-31239913 [Contig_View]  HLA-C [Vega]
ICGC DataPortalENSG00000204525
cBioPortalHLA-C
AceView (NCBI)HLA-C
Genatlas (Paris)HLA-C
WikiGenes3107
SOURCE (Princeton)NM_001243042 NM_002117
Genomic and cartography
GoldenPath (UCSC)HLA-C  -  6p21.33   chr6:31236526-31239913 -  6p21.33   [Description]    (hg19-Feb_2009)
EnsemblHLA-C - 6p21.33 [CytoView]
Mapping of homologs : NCBIHLA-C [Mapview]
OMIM142840   177900   609423   
Gene and transcription
Genbank (Entrez)AF168611 AF196489 AF405691 AJ005199 AJ010748
RefSeq transcript (Entrez)NM_001243042 NM_002117
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_029422 NT_007592 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249 NW_001838980 NW_004929326
Consensus coding sequences : CCDS (NCBI)HLA-C
Cluster EST : UnigeneHs.743218 [ NCBI ]
CGAP (NCI)Hs.743218
Alternative Splicing : Fast-db (Paris)GSHG0026461
Alternative Splicing GalleryENSG00000204525
Gene ExpressionHLA-C [ NCBI-GEO ]     HLA-C [ SEEK ]   HLA-C [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9TNN7 (Uniprot)
NextProtQ9TNN7  [Medical]
With graphics : InterProQ9TNN7
Splice isoforms : SwissVarQ9TNN7 (Swissvar)
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)Ig-like_dom [organisation]   Ig-like_fold [organisation]   Ig/MHC_CS [organisation]   Ig_C1-set [organisation]   MHC_I-like_Ag-recog [organisation]   MHC_I/II-like_Ag-recog [organisation]   MHC_I_a [organisation]   MHC_I_a_a1/a2 [organisation]   MHC_I_a_C [organisation]  
Related proteins : CluSTrQ9TNN7
Domain families : Pfam (Sanger)C1-set (PF07654)    MHC_I (PF00129)    MHC_I_C (PF06623)   
Domain families : Pfam (NCBI)pfam07654    pfam00129    pfam06623   
Domain families : Smart (EMBL)IGc1 (SM00407)  
DMDM Disease mutations3107
Blocks (Seattle)Q9TNN7
Human Protein AtlasENSG00000204525 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9TNN7
HPRD00829
Protein Interaction databases
DIP (DOE-UCLA)Q9TNN7
IntAct (EBI)Q9TNN7
FunCoupENSG00000204525
BioGRIDHLA-C
InParanoidQ9TNN7
Interologous Interaction database Q9TNN7
IntegromeDBHLA-C
STRING (EMBL)HLA-C
Ontologies - Pathways
Ontology : AmiGOGolgi membrane  positive regulation of T cell mediated cytotoxicity  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent  receptor binding  extracellular region  plasma membrane  integral to plasma membrane  immune response  ER to Golgi transport vesicle membrane  modulation by virus of host morphology or physiology  cytokine-mediated signaling pathway  phagocytic vesicle membrane  early endosome membrane  antigen processing and presentation of exogenous peptide antigen via MHC class I  peptide antigen binding  peptide antigen binding  MHC class I protein complex  innate immune response  regulation of immune response  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  integral to lumenal side of endoplasmic reticulum membrane  
Ontology : EGO-EBIGolgi membrane  positive regulation of T cell mediated cytotoxicity  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent  receptor binding  extracellular region  plasma membrane  integral to plasma membrane  immune response  ER to Golgi transport vesicle membrane  modulation by virus of host morphology or physiology  cytokine-mediated signaling pathway  phagocytic vesicle membrane  early endosome membrane  antigen processing and presentation of exogenous peptide antigen via MHC class I  peptide antigen binding  peptide antigen binding  MHC class I protein complex  innate immune response  regulation of immune response  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  integral to lumenal side of endoplasmic reticulum membrane  
Pathways : KEGGEndocytosis    Phagosome    Cell adhesion molecules (CAMs)    Antigen processing and presentation    Natural killer cell mediated cytotoxicity    Type I diabetes mellitus    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Viral carcinogenesis    Autoimmune thyroid disease    Allograft rejection    Graft-versus-host disease    Viral myocarditis   
Protein Interaction DatabaseHLA-C
Wikipedia pathwaysHLA-C
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HLA-C
snp3D : Map Gene to Disease3107
SNP (GeneSNP Utah)HLA-C
SNP : HGBaseHLA-C
Genetic variants : HAPMAPHLA-C
Exome VariantHLA-C
1000_GenomesHLA-C 
ICGC programENSG00000204525 
Somatic Mutations in Cancer : COSMICHLA-C 
CONAN: Copy Number AnalysisHLA-C 
Mutations and Diseases : HGMDHLA-C
Genomic VariantsHLA-C  HLA-C [DGVbeta]
dbVarHLA-C
ClinVarHLA-C
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM142840    177900    609423   
MedgenHLA-C
GENETestsHLA-C
Disease Genetic AssociationHLA-C
Huge Navigator HLA-C [HugePedia]  HLA-C [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneHLA-C
Homology/Alignments : Family Browser (UCSC)HLA-C
Phylogenetic Trees/Animal Genes : TreeFamHLA-C
Chemical/Protein Interactions : CTD3107
Chemical/Pharm GKB GenePA35057
Clinical trialHLA-C
Cancer Resource (Charite)ENSG00000204525
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineHLA-C
iHOPHLA-C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:58:48 CEST 2014

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