Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HES1 (hes family bHLH transcription factor 1)

Identity

Alias_namesHRY
hairy homolog (Drosophila)
hairy and enhancer of split 1, (Drosophila)
Alias_symbol (synonym)FLJ20408
HES-1
Hes1
bHLHb39
Other aliasHHL
HGNC (Hugo) HES1
LocusID (NCBI) 3280
Atlas_Id 47103
Location 3q29  [Link to chromosome band 3q29]
Location_base_pair Starts at 194136142 and ends at 194138612 bp from pter ( according to hg38-Dec_2013)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Neuro-Endocrine/Endocrine System: Carcinoid tumors


External links

Nomenclature
HGNC (Hugo)HES1   5192
Cards
Entrez_Gene (NCBI)HES1  3280  hes family bHLH transcription factor 1
AliasesHES-1; HHL; HRY; bHLHb39
GeneCards (Weizmann)HES1
Ensembl hg19 (Hinxton)ENSG00000114315 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114315 [Gene_View]  chr3:194136142-194138612 [Contig_View]  HES1 [Vega]
ICGC DataPortalENSG00000114315
TCGA cBioPortalHES1
AceView (NCBI)HES1
Genatlas (Paris)HES1
WikiGenes3280
SOURCE (Princeton)HES1
Genetics Home Reference (NIH)HES1
Genomic and cartography
GoldenPath hg38 (UCSC)HES1  -     chr3:194136142-194138612 +  3q29   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HES1  -     3q29   [Description]    (hg19-Feb_2009)
EnsemblHES1 - 3q29 [CytoView hg19]  HES1 - 3q29 [CytoView hg38]
Mapping of homologs : NCBIHES1 [Mapview hg19]  HES1 [Mapview hg38]
OMIM139605   
Gene and transcription
Genbank (Entrez)AF264785 AI370424 AK000415 AK300482 BC005178
RefSeq transcript (Entrez)NM_005524
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HES1
Cluster EST : UnigeneHs.250666 [ NCBI ]
CGAP (NCI)Hs.250666
Alternative Splicing GalleryENSG00000114315
Gene ExpressionHES1 [ NCBI-GEO ]   HES1 [ EBI - ARRAY_EXPRESS ]   HES1 [ SEEK ]   HES1 [ MEM ]
Gene Expression Viewer (FireBrowse)HES1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3280
GTEX Portal (Tissue expression)HES1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14469   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14469  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14469
Splice isoforms : SwissVarQ14469
PhosPhoSitePlusQ14469
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    ORANGE (PS51054)   
Domains : Interpro (EBI)bHLH_dom    Orange_dom   
Domain families : Pfam (Sanger)Hairy_orange (PF07527)    HLH (PF00010)   
Domain families : Pfam (NCBI)pfam07527    pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  ORANGE (SM00511)  
Conserved Domain (NCBI)HES1
DMDM Disease mutations3280
Blocks (Seattle)HES1
PDB (SRS)2MH3   
PDB (PDBSum)2MH3   
PDB (IMB)2MH3   
PDB (RSDB)2MH3   
Structural Biology KnowledgeBase2MH3   
SCOP (Structural Classification of Proteins)2MH3   
CATH (Classification of proteins structures)2MH3   
SuperfamilyQ14469
Human Protein AtlasENSG00000114315
Peptide AtlasQ14469
HPRD00770
IPIIPI00030964   IPI00815685   
Protein Interaction databases
DIP (DOE-UCLA)Q14469
IntAct (EBI)Q14469
FunCoupENSG00000114315
BioGRIDHES1
STRING (EMBL)HES1
ZODIACHES1
Ontologies - Pathways
QuickGOQ14469
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  liver development  embryonic heart tube morphogenesis  outflow tract morphogenesis  regulation of secondary heart field cardioblast proliferation  ventricular septum development  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  transcription, DNA-templated  protein complex assembly  cell adhesion  Notch signaling pathway  Notch signaling pathway  smoothened signaling pathway  STAT protein import into nucleus  nervous system development  transcription factor binding  positive regulation of cell proliferation  cell migration  telencephalon development  midbrain-hindbrain boundary morphogenesis  oculomotor nerve development  trochlear nerve development  hindbrain morphogenesis  forebrain radial glial cell differentiation  adenohypophysis development  lung development  positive regulation of BMP signaling pathway  midbrain development  pancreas development  somatic stem cell population maintenance  ascending aorta morphogenesis  positive regulation of T cell proliferation  auditory receptor cell fate determination  protein homodimerization activity  histone deacetylase binding  positive regulation of DNA binding  sequence-specific DNA binding  regulation of fat cell differentiation  negative regulation of auditory receptor cell differentiation  positive regulation of Notch signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of mitotic cell cycle, embryonic  lateral inhibition  positive regulation of JAK-STAT cascade  cell maturation  thymus development  cell morphogenesis involved in neuron differentiation  positive regulation of astrocyte differentiation  negative regulation of oligodendrocyte differentiation  artery morphogenesis  regulation of epithelial cell proliferation  chaperone binding  inner ear receptor stereocilium organization  regulation of timing of neuron differentiation  negative regulation of glial cell proliferation  ventricular septum morphogenesis  ureteric bud morphogenesis  labyrinthine layer blood vessel development  common bile duct development  negative regulation of stomach neuroendocrine cell differentiation  cardiac neural crest cell development involved in outflow tract morphogenesis  pharyngeal arch artery morphogenesis  N-box binding  glomerulus vasculature development  comma-shaped body morphogenesis  S-shaped body morphogenesis  renal interstitial fibroblast development  metanephric nephron tubule morphogenesis  cochlea development  establishment of epithelial cell polarity  vascular smooth muscle cell development  neuronal stem cell population maintenance  positive regulation of protein targeting to mitochondrion  negative regulation of pancreatic A cell differentiation  negative regulation of stem cell differentiation  negative regulation of pro-B cell differentiation  negative regulation of forebrain neuron differentiation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  liver development  embryonic heart tube morphogenesis  outflow tract morphogenesis  regulation of secondary heart field cardioblast proliferation  ventricular septum development  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  transcription, DNA-templated  protein complex assembly  cell adhesion  Notch signaling pathway  Notch signaling pathway  smoothened signaling pathway  STAT protein import into nucleus  nervous system development  transcription factor binding  positive regulation of cell proliferation  cell migration  telencephalon development  midbrain-hindbrain boundary morphogenesis  oculomotor nerve development  trochlear nerve development  hindbrain morphogenesis  forebrain radial glial cell differentiation  adenohypophysis development  lung development  positive regulation of BMP signaling pathway  midbrain development  pancreas development  somatic stem cell population maintenance  ascending aorta morphogenesis  positive regulation of T cell proliferation  auditory receptor cell fate determination  protein homodimerization activity  histone deacetylase binding  positive regulation of DNA binding  sequence-specific DNA binding  regulation of fat cell differentiation  negative regulation of auditory receptor cell differentiation  positive regulation of Notch signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of mitotic cell cycle, embryonic  lateral inhibition  positive regulation of JAK-STAT cascade  cell maturation  thymus development  cell morphogenesis involved in neuron differentiation  positive regulation of astrocyte differentiation  negative regulation of oligodendrocyte differentiation  artery morphogenesis  regulation of epithelial cell proliferation  chaperone binding  inner ear receptor stereocilium organization  regulation of timing of neuron differentiation  negative regulation of glial cell proliferation  ventricular septum morphogenesis  ureteric bud morphogenesis  labyrinthine layer blood vessel development  common bile duct development  negative regulation of stomach neuroendocrine cell differentiation  cardiac neural crest cell development involved in outflow tract morphogenesis  pharyngeal arch artery morphogenesis  N-box binding  glomerulus vasculature development  comma-shaped body morphogenesis  S-shaped body morphogenesis  renal interstitial fibroblast development  metanephric nephron tubule morphogenesis  cochlea development  establishment of epithelial cell polarity  vascular smooth muscle cell development  neuronal stem cell population maintenance  positive regulation of protein targeting to mitochondrion  negative regulation of pancreatic A cell differentiation  negative regulation of stem cell differentiation  negative regulation of pro-B cell differentiation  negative regulation of forebrain neuron differentiation  
Pathways : BIOCARTASegmentation Clock [Genes]   
Pathways : KEGGFanconi anemia pathway    Notch signaling pathway    Maturity onset diabetes of the young   
NDEx NetworkHES1
Atlas of Cancer Signalling NetworkHES1
Wikipedia pathwaysHES1
Orthology - Evolution
OrthoDB3280
GeneTree (enSembl)ENSG00000114315
Phylogenetic Trees/Animal Genes : TreeFamHES1
HOVERGENQ14469
HOGENOMQ14469
Homologs : HomoloGeneHES1
Homology/Alignments : Family Browser (UCSC)HES1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHES1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HES1
dbVarHES1
ClinVarHES1
1000_GenomesHES1 
Exome Variant ServerHES1
ExAC (Exome Aggregation Consortium)HES1 (select the gene name)
Genetic variants : HAPMAP3280
Genomic Variants (DGV)HES1 [DGVbeta]
DECIPHERHES1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHES1 
Mutations
ICGC Data PortalHES1 
TCGA Data PortalHES1 
Broad Tumor PortalHES1
OASIS PortalHES1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHES1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHES1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HES1
DgiDB (Drug Gene Interaction Database)HES1
DoCM (Curated mutations)HES1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HES1 (select a term)
intoGenHES1
Cancer3DHES1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM139605   
Orphanet
MedgenHES1
Genetic Testing Registry HES1
NextProtQ14469 [Medical]
TSGene3280
GENETestsHES1
Target ValidationHES1
Huge Navigator HES1 [HugePedia]
snp3D : Map Gene to Disease3280
BioCentury BCIQHES1
ClinGenHES1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3280
Chemical/Pharm GKB GenePA29465
Clinical trialHES1
Miscellaneous
canSAR (ICR)HES1 (select the gene name)
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHES1
EVEXHES1
GoPubMedHES1
iHOPHES1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:36:40 CEST 2017

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