ENSMUSG00000047171


Mus musculus

Features
Gene ID: ENSMUSG00000047171
  
Biological name :Helt
  
Synonyms : Hairy and enhancer of split-related protein HELT / Helt / Q7TS99
  
Possible biological names infered from orthology : A6NFD8 / helt bHLH transcription factor
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: B1.1
Gene start: 46292039
Gene end: 46294671
  
Corresponding Affymetrix probe sets: 10578547 (MoGene1.0st)   
  
Cross references: Ensembl peptide - ENSMUSP00000054823
Ensembl peptide - ENSMUSP00000147465
NCBI entrez gene - 234219     See in Manteia.
MGI - MGI:3040955
RefSeq - XM_011242213
RefSeq - NM_173789
RefSeq - XM_006509389
RefSeq Peptide - NP_776150
swissprot - Q8BRJ9
swissprot - Q7TS99
Ensembl - ENSMUSG00000047171
  

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


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 heltENSDARG00000056400Danio rerio
 HELTENSG00000187821Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hey1 / hes related family bHLH transcription factor with YRPW motif 1 / Q9Y5J3*ENSMUSG0000004028929
Hey2 / Q9QUS4 / Hairy/enhancer-of-split related with YRPW motif protein 2 / Q9UBP5* / hes related family bHLH transcription factor with YRPW motif 2*ENSMUSG0000001978925
Heyl / Q9DBX7 / Hairy/enhancer-of-split related with YRPW motif-like protein / Q9NQ87* / hes related family bHLH transcription factor with YRPW motif-like*ENSMUSG0000003274424


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:0001967 suckling behavior IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007417 central nervous system development IMP
 biological_processGO:0009791 post-embryonic development IMP
 biological_processGO:0010259 multicellular organism aging IMP
 biological_processGO:0010467 gene expression IMP
 biological_processGO:0021858 GABAergic neuron differentiation in basal ganglia IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030182 neuron differentiation IGI
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005667 transcription factor complex IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Smad2tm1.1Epb/Smad2tm1.1Epb,Smad3tm1Cxd/Smad3tm1Cxd,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * DBA * SJL

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
Show

Allelic Composition: Smad2tm1.1Epb/Smad2tm1.1Epb,Smad3tm1Cxd/Smad3tm1Cxd,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * DBA * SJL

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Smad2tm1.1Epb/Smad2tm1.1Epb,Smad3tm1Cxd/Smad3tm1Cxd,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * DBA * SJL

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Smad2tm1.1Epb/Smad2tm1.1Epb,Smad3tm1Cxd/Smad3tm1Cxd,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * DBA * SJL

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad2tm1.1Epb/Smad2tm1.1Epb,Smad3tm1Cxd/Smad3tm1Cxd,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * DBA * SJL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad2tm1.1Epb/Smad2tm1.1Epb,Smad3tm1Cxd/Smad3tm1Cxd,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * DBA * SJL

 MP:0003246 loss of GABA neurons "loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Smad2tm1.1Epb/Smad2tm1.1Epb,Smad3tm1Cxd/Smad3tm1Cxd,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * DBA * SJL

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0003247 abnormal glutaminergic neuron "malformation or absence of the neurons that utilize glutamate as a neurotransmitter " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Hhextm1Cwb/Hhextm2Cwb,Tg(Foxa3-cre)1Khk/?
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA * SJL

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad2tm1.1Epb/Smad2tm1.1Epb,Smad3tm1Cxd/Smad3tm1Cxd,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * DBA * SJL

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Smad2tm1.1Epb/Smad2tm1.1Epb,Smad3tm1Cxd/Smad3tm1Cxd,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * DBA * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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