ENSG00000123095


Homo sapiens

Features
Gene ID: ENSG00000123095
  
Biological name :BHLHE41
  
Synonyms : basic helix-loop-helix family member e41 / BHLHE41 / Q9C0J9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p12.1
Gene start: 26120026
Gene end: 26125127
  
Corresponding Affymetrix probe sets: 221530_s_at (Human Genome U133 Plus 2.0 Array)   223185_s_at (Human Genome U133 Plus 2.0 Array)   231242_at (Human Genome U133 Plus 2.0 Array)   231243_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000242728
NCBI entrez gene - 79365     See in Manteia.
OMIM - 606200
RefSeq - NM_030762
RefSeq Peptide - NP_110389
swissprot - A0A024RAV8
swissprot - Q9C0J9
Ensembl - ENSG00000123095
  
Related genetic diseases (OMIM): 612975 - [Short sleeper], 612975

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bhlhe41ENSDARG00000041691Danio rerio
 BHLHE41ENSGALG00000041414Gallus gallus
 Q99PV5ENSMUSG00000030256Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O14503 / BHLHE40 / basic helix-loop-helix family member e40ENSG0000013410734


Protein motifs (from Interpro)
Interpro ID Name
 IPR003650  Orange domain
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0008283 cell proliferation NAS
 biological_processGO:0009887 animal organ morphogenesis NAS
 biological_processGO:0010832 negative regulation of myotube differentiation ISS
 biological_processGO:0010944 negative regulation of transcription by competitive promoter binding ISS
 biological_processGO:0030154 cell differentiation NAS
 biological_processGO:0032922 circadian regulation of gene expression IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated ISS
 biological_processGO:0048511 rhythmic process IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding ISS
 molecular_functionGO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding ISS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding ISS
 molecular_functionGO:0003714 transcription corepressor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0042826 histone deacetylase binding ISS
 molecular_functionGO:0043425 bHLH transcription factor binding ISS
 molecular_functionGO:0043426 MRF binding ISS
 molecular_functionGO:0046982 protein heterodimerization activity ISS
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0070888 E-box binding ISS


Pathways (from Reactome)
Pathway description
BMAL1:CLOCK,NPAS2 activates circadian gene expression
Circadian Clock


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000165030 NFIL3 / Q16649 / nuclear factor, interleukin 3 regulated  / complex






 

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