ENSMUSG00000032744


Mus musculus

Features
Gene ID: ENSMUSG00000032744
  
Biological name :Heyl
  
Synonyms : Hairy/enhancer-of-split related with YRPW motif-like protein / Heyl / Q9DBX7
  
Possible biological names infered from orthology : hes related family bHLH transcription factor with YRPW motif-like / Q9NQ87
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: D2.2
Gene start: 123233556
Gene end: 123249875
  
Corresponding Affymetrix probe sets: 10507840 (MoGene1.0st)   1419302_at (Mouse Genome 430 2.0 Array)   1419303_at (Mouse Genome 430 2.0 Array)   1438886_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000040576
NCBI entrez gene - 56198     See in Manteia.
MGI - MGI:1860511
RefSeq - NM_013905
RefSeq Peptide - NP_038933
swissprot - Q9DBX7
Ensembl - ENSMUSG00000032744
  

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
 heylENSDARG00000055798Danio rerio
 HEYLENSGALG00000044737Gallus gallus
 HEYLENSG00000163909Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hey1 / hes related family bHLH transcription factor with YRPW motif 1 / Q9Y5J3*ENSMUSG0000004028939
Hey2 / Q9QUS4 / Hairy/enhancer-of-split related with YRPW motif protein 2 / Q9UBP5* / hes related family bHLH transcription factor with YRPW motif 2*ENSMUSG0000001978938
Helt / Q7TS99 / Hairy and enhancer of split-related protein HELT / A6NFD8* / helt bHLH transcription factor*ENSMUSG0000004717117


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 IEA
 biological_processGO:0003151 outflow tract morphogenesis IGI
 biological_processGO:0003181 atrioventricular valve morphogenesis IGI
 biological_processGO:0003184 pulmonary valve morphogenesis IGI
 biological_processGO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation IGI
 biological_processGO:0003203 endocardial cushion morphogenesis IGI
 biological_processGO:0003208 cardiac ventricle morphogenesis IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II ISS
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007219 Notch signaling pathway ISO
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007422 peripheral nervous system development NAS
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0014031 mesenchymal cell development IGI
 biological_processGO:0032835 glomerulus development IEP
 biological_processGO:0035914 skeletal muscle cell differentiation IMP
 biological_processGO:0045666 positive regulation of neuron differentiation IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0060317 cardiac epithelial to mesenchymal transition IGI
 biological_processGO:0060412 ventricular septum morphogenesis IGI
 biological_processGO:0060766 negative regulation of androgen receptor signaling pathway IEA
 biological_processGO:0071773 cellular response to BMP stimulus IEP
 biological_processGO:0072014 proximal tubule development IEP
 biological_processGO:2000824 negative regulation of androgen receptor activity IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex ISS
 cellular_componentGO:0005737 cytoplasm IDA
 molecular_functionGO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000989 transcription factor activity, transcription factor binding IEA
 molecular_functionGO:0001077 transcriptional activator 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 IEA
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0035939 microsatellite binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0050683 AF-1 domain binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000297 abnormal endocardial cushion morphology "malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hey1tm1Gess/Hey1tm1Gess,Heyltm1Gess/Heyltm1Gess
Genetic Background: either: B6.129-Hey1tm1Gess Heyltm1Gess or (involves: 129 * C57BL/6)

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000966 reduced sensory neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Adip1SM/J/?,Capn10tm1Chev/Capn10+
Genetic Background: (B6.129-Capn10tm1Chev x SM/J)F1

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Golga3tm1b(EUCOMM)Hmgu/Golga3tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Golga3tm1b(EUCOMM)Hmgu/H

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Il18tm1Aki/Il18tm1Aki
Genetic Background: B6.129P2-Il18tm1Aki

 MP:0002745 abnormal atrioventricular valve morphology "malformation of the valves that gate the flow of blood from the atria into the ventricles" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Hey1tm1Gess/Hey1tm1Gess,Heyltm1Gess/Heyltm1Gess
Genetic Background: either: B6.129-Hey1tm1Gess Heyltm1Gess or (involves: 129 * C57BL/6)

 MP:0003833 decreased number of satellite cells "less than the normal number of unfused cells in muscle that play a role in muscle regeneration" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0004232 decreased muscle weight "less than average muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0006006 increased sensory neuron number "greater than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Adip1SM/J/?,Capn10tm1Chev/Capn10+
Genetic Background: (B6.129-Capn10tm1Chev x SM/J)F1

 MP:0006128 pulmonary valve stenosis "abnormal narrowing of the pulmonary valve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Hey1tm1Gess/Hey1tm1Gess,Heyltm1Gess/Heyltm1Gess
Genetic Background: either: B6.129-Hey1tm1Gess Heyltm1Gess or (involves: 129 * C57BL/6)

 MP:0008772 enlarged heart ventricle "increased average size of the heart ventricles compared to the average for a particular population" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Hey1tm1Gess/Hey1tm1Gess,Heyltm1Gess/Heyltm1Gess
Genetic Background: either: B6.129-Hey1tm1Gess Heyltm1Gess or (involves: 129 * C57BL/6)

 MP:0008825 abnormal cardiac epithelial to mesenchymal transition "anomaly in the process by which endocardial cells of the atrioventricular canal lose their epithelial characteristics, delaminante from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventaully forming the endocardial cushions reqired for septum and atrioventricular valve formation" [PMID:17303760]
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Allelic Composition: Hey1tm1Gess/Hey1tm1Gess,Heyltm1Gess/Heyltm1Gess
Genetic Background: either: B6.129-Hey1tm1Gess Heyltm1Gess or (involves: 129 * C57BL/6)

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0009406 decreased skeletal muscle fiber number "decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0009410 abnormal skeletal muscle satellite cell proliferation "anomaly in the ability of unfused cells in skeltal muscle to undergo expansion by cell division, usually triggered by injury or disease" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
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Allelic Composition: Hey1tm1Gess/Hey1tm1Gess,Heyltm1Gess/Heyltm1Gess
Genetic Background: either: B6.129-Hey1tm1Gess Heyltm1Gess or (involves: 129 * C57BL/6)

 MP:0010585 abnormal conotruncal ridge morphology "any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:8823298]
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Allelic Composition: Hey1tm1Gess/Hey1tm1Gess,Heyltm1Gess/Heyltm1Gess
Genetic Background: either: B6.129-Hey1tm1Gess Heyltm1Gess or (involves: 129 * C57BL/6)

 MP:0010601 thick pulmonary valve "an increase in the ratio of the pulmonary valve wall thickness to the pulmonary artery wall thickness" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hey1tm1Gess/Hey1tm1Gess,Heyltm1Gess/Heyltm1Gess
Genetic Background: either: B6.129-Hey1tm1Gess Heyltm1Gess or (involves: 129 * C57BL/6)

 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]
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Allelic Composition: Hey1tm1Gess/Hey1tm1Gess,Heyltm1Gess/Heyltm1Gess
Genetic Background: either: B6.129-Hey1tm1Gess Heyltm1Gess or (involves: 129 * C57BL/6)

Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: B6.Cg-Hey1tm1Kkb Heyltm1Kkb

 MP:0011396 abnormal sleep behavior "any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity" [MGI:smb]
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Allelic Composition: Golga3tm1b(EUCOMM)Hmgu/Golga3tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Golga3tm1b(EUCOMM)Hmgu/H

 MP:0013239 impaired skeletal muscle regeneration "reduced ability to repair skeletal muscle after injury or disease" [MGI:csmith]
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Allelic Composition: Hey1tm1Kkb/Hey1tm1Kkb,Heyltm1Kkb/Heyltm1Kkb
Genetic Background: B6.Cg-Hey1tm1Kkb Heyltm1Kkb

  


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






 

0 s.

 
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