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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
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    Ig-like_fold    Ig/MHC_CS    Ig_C1-set    MHC_I-like_Ag-recog    MHC_I/II-like_Ag-recog    MHC_I_a    MHC_I_a_a1/a2    MHC_I_a_C   
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
Peptide AtlasQ9TNN7
HPRD00829
Protein Interaction databases
DIP (DOE-UCLA)Q9TNN7
IntAct (EBI)Q9TNN7
FunCoupENSG00000204525
BioGRIDHLA-C
IntegromeDBHLA-C
STRING (EMBL)HLA-C
Ontologies - Pathways
QuickGOQ9TNN7
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  antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent  extracellular region  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  plasma membrane  integral component of plasma membrane  immune response  cell surface  cell surface  ER to Golgi transport vesicle membrane  viral process  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  MHC class I protein complex  innate immune response  TAP binding  regulation of immune response  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  extracellular vesicular exosome  integral component of 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  antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent  extracellular region  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  plasma membrane  integral component of plasma membrane  immune response  cell surface  cell surface  ER to Golgi transport vesicle membrane  viral process  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  MHC class I protein complex  innate immune response  TAP binding  regulation of immune response  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  extracellular vesicular exosome  integral component of 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
SNP (GeneSNP Utah)HLA-C
SNP : HGBaseHLA-C
Genetic variants : HAPMAPHLA-C
1000_GenomesHLA-C 
ICGC programENSG00000204525 
CONAN: Copy Number AnalysisHLA-C 
Somatic Mutations in Cancer : COSMICHLA-C 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DECIPHER (Syndromes)6:31236526-31239913
Mutations and Diseases : HGMDHLA-C
OMIM142840    177900    609423   
MedgenHLA-C
GENETestsHLA-C
Disease Genetic AssociationHLA-C
Huge Navigator HLA-C [HugePedia]  HLA-C [HugeCancerGEM]
Genomic VariantsHLA-C  HLA-C [DGVbeta]
Exome VariantHLA-C
dbVarHLA-C
ClinVarHLA-C
snp3D : Map Gene to Disease3107
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
GoPubMedHLA-C
iHOPHLA-C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:31:36 CET 2014

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