ENSMUSG00000051251


Mus musculus

Features
Gene ID: ENSMUSG00000051251
  
Biological name :Nhlh1
  
Synonyms : nescient helix loop helix 1 / Nhlh1 / Q02576
  
Possible biological names infered from orthology : Q02575
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: H3
Gene start: 172052292
Gene end: 172057573
  
Corresponding Affymetrix probe sets: 10360202 (MoGene1.0st)   1419533_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000057489
NCBI entrez gene - 18071     See in Manteia.
MGI - MGI:98481
RefSeq - NM_010916
RefSeq Peptide - NP_035046
swissprot - Q02576
Ensembl - ENSMUSG00000051251
  

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
 nhlh2ENSDARG00000025495Danio rerio
 NHLH1ENSGALG00000025817Gallus gallus
 NHLH1ENSG00000171786Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nhlh2 / Q64221 / nescient helix loop helix 2 / Q02577*ENSMUSG0000004854067
Tal1 / P22091 / T cell acute lymphocytic leukemia 1 / P17542* / TAL bHLH transcription factor 1, erythroid differentiation factor*ENSMUSG0000002871734
Lyl1 / P27792 / Protein lyl-1 / P12980* / LYL1, basic helix-loop-helix family member*ENSMUSG0000003404132
Scx / Q64124 / scleraxis / Q7RTU7* / scleraxis bHLH transcription factor*ENSMUSG0000003416132
P26687 / Twist1 / twist basic helix-loop-helix transcription factor 1 / Q15672* / twist family bHLH transcription factor 1*ENSMUSG0000003579929
Tcf15 / Q60756 / Transcription factor 15 / Q12870*ENSMUSG0000006807928
Twist2 / twist basic helix-loop-helix transcription factor 2 / Q8WVJ9* / twist family bHLH transcription factor 2*ENSMUSG0000000780527
Hand1 / Q64279 / Heart- and neural crest derivatives-expressed protein 1 / O96004* / heart and neural crest derivatives expressed 1*ENSMUSG0000003733526
Tal2 / Q62282 / T cell acute lymphocytic leukemia 2 / Q16559* / TAL bHLH transcription factor 2*ENSMUSG0000002841725
Hand2 / Q61039 / Heart- and neural crest derivatives-expressed protein 2 / P61296* / heart and neural crest derivatives expressed 2*ENSMUSG0000003819324


Protein motifs (from Interpro)
Interpro ID Name
 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:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 cellular_componentGO:0005634 nucleus IBA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
Show

Allelic Composition: Crebbptm2Pkb/Crebbp+,Ep300tm3Pkb/Ep300tm3Pkb
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

Allelic Composition: Nhlh1tm1Irk/Nhlh1tm1Irk,Nhlh2tm1Irk/Nhlh2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Nhlh1tm1Irk/Nhlh1tm1Irk,Nhlh2tm1Irk/Nhlh2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: Crebbptm2Pkb/Crebbp+,Ep300tm3Pkb/Ep300tm3Pkb
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

Allelic Composition: Nhlh1tm1Irk/Nhlh1tm1Irk,Nhlh2tm1Irk/Nhlh2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0003929 decreased heart rate variability "reduced variation of beat-to-beat intervals of the heart, usually indicitive of cardiac disease" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Crebbptm2Pkb/Crebbp+,Ep300tm3Pkb/Ep300tm3Pkb
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

Allelic Composition: Nhlh1tm1Irk/Nhlh1tm1Irk,Nhlh2tm1Irk/Nhlh2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004156 abnormal QT variability "anomaly in the index of beat-to-beat QT interval fluctuations (temporal QT interval variability), normally expressed as a unitless negative number reflecting beat-to-beat changes in ventricular repolarization; an increased, positive QTVI number indicates significant repolarization abnormalities" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Crebbptm2Pkb/Crebbp+,Ep300tm3Pkb/Ep300tm3Pkb
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

Allelic Composition: Nhlh1tm1Irk/Nhlh1tm1Irk,Nhlh2tm1Irk/Nhlh2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0006110 ventricular fibrillation "asynchronous contraction or quivering of individual cardiac muscle fibers in the ventricles" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Nhlh1tm1Irk/Nhlh1tm1Irk,Nhlh2tm1Irk/Nhlh2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0006277 abnormal parasympathetic nervous system physiology "anomaly in the function of the craniosacral portion of the autonomic nervous system" [Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:78031]
Show

Allelic Composition: Crebbptm2Pkb/Crebbp+,Ep300tm3Pkb/Ep300tm3Pkb
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

Allelic Composition: Nhlh1tm1Irk/Nhlh1tm1Irk,Nhlh2tm1Irk/Nhlh2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008948 decreased neuron number "fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0009732 ventricular premature beat "a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Crebbptm2Pkb/Crebbp+,Ep300tm3Pkb/Ep300tm3Pkb
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

Allelic Composition: Nhlh1tm1Irk/Nhlh1tm1Irk,Nhlh2tm1Irk/Nhlh2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr