ENSMUSG00000035799


Mus musculus

Features
Gene ID: ENSMUSG00000035799
  
Biological name :Twist1
  
Synonyms : P26687 / Twist1 / twist basic helix-loop-helix transcription factor 1
  
Possible biological names infered from orthology : Q15672 / twist family bHLH transcription factor 1
  
Species: Mus musculus
  
Chr. number: 12
Strand: 1
Band: A3
Gene start: 33957671
Gene end: 33959829
  
Corresponding Affymetrix probe sets: 10395320 (MoGene1.0st)   1418733_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000040089
NCBI entrez gene - 22160     See in Manteia.
MGI - MGI:98872
RefSeq - NM_011658
RefSeq Peptide - NP_035788
swissprot - P26687
Ensembl - ENSMUSG00000035799
  

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
 twist1aENSDARG00000030402Danio rerio
 twist1bENSDARG00000076010Danio rerio
 twist2ENSDARG00000078266Danio rerio
 TWIST1ENSGALG00000041640Gallus gallus
 Q15672ENSG00000122691Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Twist2 / twist basic helix-loop-helix transcription factor 2 / Q8WVJ9* / twist family bHLH transcription factor 2*ENSMUSG0000000780564
Tal1 / P22091 / T cell acute lymphocytic leukemia 1 / P17542* / TAL bHLH transcription factor 1, erythroid differentiation factor*ENSMUSG0000002871726
Scx / Q64124 / scleraxis / Q7RTU7* / scleraxis bHLH transcription factor*ENSMUSG0000003416125
Tcf15 / Q60756 / Transcription factor 15 / Q12870*ENSMUSG0000006807923
Hand2 / Q61039 / Heart- and neural crest derivatives-expressed protein 2 / P61296* / heart and neural crest derivatives expressed 2*ENSMUSG0000003819323
Lyl1 / P27792 / Protein lyl-1 / P12980* / LYL1, basic helix-loop-helix family member*ENSMUSG0000003404121
Hand1 / Q64279 / Heart- and neural crest derivatives-expressed protein 1 / O96004* / heart and neural crest derivatives expressed 1*ENSMUSG0000003733520
Nhlh1 / Q02576 / nescient helix loop helix 1 / Q02575*ENSMUSG0000005125118
Nhlh2 / Q64221 / nescient helix loop helix 2 / Q02577*ENSMUSG0000004854018
Tal2 / Q62282 / T cell acute lymphocytic leukemia 2 / Q16559* / TAL bHLH transcription factor 2*ENSMUSG0000002841717


Protein motifs (from Interpro)
Interpro ID Name
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR015789  Twist-related
 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:0001503 ossification IMP
 biological_processGO:0001649 osteoblast differentiation IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001764 neuron migration IMP
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0003180 aortic valve morphogenesis IEA
 biological_processGO:0003183 mitral valve morphogenesis IMP
 biological_processGO:0003203 endocardial cushion morphogenesis IMP
 biological_processGO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis IMP
 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:0007517 muscle organ development IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IEA
 biological_processGO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling IEA
 biological_processGO:0030154 cell differentiation IMP
 biological_processGO:0030326 embryonic limb morphogenesis IMP
 biological_processGO:0030500 regulation of bone mineralization IEA
 biological_processGO:0032000 positive regulation of fatty acid beta-oxidation IEA
 biological_processGO:0032720 negative regulation of tumor necrosis factor production IGI
 biological_processGO:0032760 positive regulation of tumor necrosis factor production IEA
 biological_processGO:0033128 negative regulation of histone phosphorylation IEA
 biological_processGO:0035067 negative regulation of histone acetylation IDA
 biological_processGO:0035115 embryonic forelimb morphogenesis IMP
 biological_processGO:0035116 embryonic hindlimb morphogenesis IMP
 biological_processGO:0035137 hindlimb morphogenesis IMP
 biological_processGO:0035359 negative regulation of peroxisome proliferator activated receptor signaling pathway IDA
 biological_processGO:0042476 odontogenesis IEA
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator IEA
 biological_processGO:0044092 negative regulation of molecular function IDA
 biological_processGO:0045596 negative regulation of cell differentiation IDA
 biological_processGO:0045668 negative regulation of osteoblast differentiation IEA
 biological_processGO:0045843 negative regulation of striated muscle tissue development IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0048642 negative regulation of skeletal muscle tissue development IDA
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis IMP
 biological_processGO:0048704 embryonic skeletal system morphogenesis IMP
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060348 bone development IEA
 biological_processGO:0060363 cranial suture morphogenesis IMP
 biological_processGO:0060900 embryonic camera-type eye formation IEA
 biological_processGO:0061029 eyelid development in camera-type eye IEA
 biological_processGO:0061309 cardiac neural crest cell development involved in outflow tract morphogenesis IMP
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 biological_processGO:0071456 cellular response to hypoxia IMP
 biological_processGO:0071639 positive regulation of monocyte chemotactic protein-1 production IEA
 biological_processGO:2000144 positive regulation of DNA-templated transcription, initiation IEA
 biological_processGO:2000147 positive regulation of cell motility IEA
 biological_processGO:2000276 negative regulation of oxidative phosphorylation uncoupler activity IDA
 biological_processGO:2000679 positive regulation of transcription regulatory region DNA binding IEA
 biological_processGO:2000773 negative regulation of cellular senescence IEA
 biological_processGO:2000778 positive regulation of interleukin-6 secretion IEA
 biological_processGO:2000780 negative regulation of double-strand break repair IEA
 biological_processGO:2000793 cell proliferation involved in heart valve development IMP
 biological_processGO:2000802 positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm TAS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding TAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0043425 bHLH transcription factor binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IDA
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0070888 E-box binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000081 premature suture closure "early fusion of the bones of the skull" [J:26513]
Show

Allelic Composition: Runx1tm2Dow/Runx1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Twist1Ska10/Twist1+
Genetic Background: C57BL/6J-Twist1Ska10

Allelic Composition: Id1tm1Zhu/Id1tm1Zhu,Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd

Allelic Composition: Id1tm1Zhu/Id1+,Id3tm1Zhu/Id3+,Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129S7/SvEvBrd

Allelic Composition: Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Twist1Pas/Twist1Pas
Genetic Background: involves: C57BL/6 * PDT/Pas

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
Show

Allelic Composition: Twist1Ska10/Twist1+
Genetic Background: C57BL/6J-Twist1Ska10

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
Show

Allelic Composition: Twist1Ska10/Twist1Ska10
Genetic Background: C57BL/6J-Twist1Ska10

 MP:0000550 abnormal forelimb morphology "malformation of the entire anterior extremities" [MGI:tc]
Show

Allelic Composition: Scn1btm2.1Isom/Scn1btm2.1Isom
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Twist1tm1Bhr/Twist1tm1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Fbn2fp-3J/Fbn2fp-3J
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Twist1Pas/Twist1+
Genetic Background: involves: C57BL/6 * PDT/Pas

Allelic Composition: Msx2tm1Rilm/Msx2+,Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S4/SvEvJae * 129S7/SvEvBrd * BALB/c * C57BL/6

Allelic Composition: Twist1Ska10/Twist1+
Genetic Background: involves: C57BL/6J

Allelic Composition: Twist1Ska10/Twist1+
Genetic Background: C57BL/6J-Twist1Ska10

Allelic Composition: Twist1Ska10/Twist1Ska10
Genetic Background: C57BL/6J-Twist1Ska10

Allelic Composition: Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Twist1tm1Bhr/Twist1tm2Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000733 abnormal muscle development "anomalous differentiation of muscle tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tsc1tm1Chdl/Tsc1+
Genetic Background: involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd

 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]
Show

Allelic Composition: GckRgsc702/GckRgsc702
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Fbn2fp-3J/Fbn2fp-3J
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Twist1tm1Bhr/Twist1tm1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Twist1Pas/Twist1Pas
Genetic Background: involves: C57BL/6 * PDT/Pas

Allelic Composition: Twist1tm1Bhr/Twist1tm2.1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Twist1tm1Bhr/Twist1tm1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
Show

Allelic Composition: Fbn2fp-3J/Fbn2fp-3J
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Twist1tm1Bhr/Twist1tm1Bhr
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]
Show

Allelic Composition: ApcMin/Apc+
Genetic Background: involves: C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: ApcMin/Apc+
Genetic Background: involves: C57BL/6J

 MP:0001634 internal hemorrhage "blood loss in the interior of the body due to vessel rupture or dysmorphology " [J:23170]
Show

Allelic Composition: Scn1btm2.1Isom/Scn1btm2.1Isom
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Twist1tm1Bhr/Twist1tm1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Runx1tm2Dow/Runx1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002115 abnormal skeleton extremities morphology "abnormal development of limb, foot or tail bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: ApcMin/Apc+
Genetic Background: involves: C57BL/6J

 MP:0003417 premature endochondral bone ossification "early onset of bone formation in bones that form from cartilage" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94631]
Show

Allelic Composition: Twist1Ska10/Twist1Ska10
Genetic Background: C57BL/6J-Twist1Ska10

 MP:0004337 clavicle hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tlx1tm1Thr/Tlx1tm1Thr
Genetic Background: involves: 129P2/OlaHsd * MF1

 MP:0004378 frontal bone foramen "presence of a hole in the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Msx2tm1Rilm/Msx2+,Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S4/SvEvJae * 129S7/SvEvBrd * BALB/c * C57BL/6

 MP:0004386 enlarged interparietal bone "increased size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0004424 temporal bone hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, in the large, irregular bone located at the base and side of the skull" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Runx1tm2Dow/Runx1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Twist1tm1Bhr/Twist1+,Twist2tm1(cre)Dor/Twist2+
Genetic Background: involves: 129/Sv * 129X1/SvJ

 MP:0005298 abnormal clavicle morphology "malformation of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Twist1Ska10/Twist1Ska10
Genetic Background: C57BL/6J-Twist1Ska10

 MP:0008271 abnormal bone ossification "any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503]
Show

Allelic Composition: Twist1Ska10/Twist1Ska10
Genetic Background: C57BL/6J-Twist1Ska10

 MP:0008395 abnormal osteoblast differentiation "atypical production of or inability to produce bone-forming cells, which normally form an osseous matrix (osteoid) in which they become enclosed as an osteocytes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Twist1Ska10/Twist1Ska10
Genetic Background: C57BL/6J-Twist1Ska10

 MP:0008430 short squamosal bone "length reduction of the thin, platelike part of the temporal bone" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Twist1tm1Bhr/Twist1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Twist1tm1Bhr/Twist1tm2Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Twist1Ska10/Twist1Ska10
Genetic Background: C57BL/6J-Twist1Ska10

 MP:0011088 partial neonatal 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 within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Twist1tm1Bhr/Twist1+,Twist2tm1(cre)Dor/Twist2+
Genetic Background: involves: 129/Sv * 129X1/SvJ

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Fbn2fp-3J/Fbn2fp-3J
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Twist1tm1Bhr/Twist1tm1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011101 partial prenatal 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 between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Twist1Pas/Twist1Pas
Genetic Background: involves: C57BL/6 * PDT/Pas

 MP:0030350 premature coronal suture closure "early closure of the coronal suture of the skull" [MGI:anna]
Show

Allelic Composition: Runx1tm2Dow/Runx1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Twist1Ska10/Twist1+
Genetic Background: C57BL/6J-Twist1Ska10

 MP:0030356 premature lambdoid suture closure "early closure of the lambdoid suture of the skull" [MGI:anna]
Show

Allelic Composition: Twist1Ska10/Twist1+
Genetic Background: C57BL/6J-Twist1Ska10

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000039153 Runx2 / Q08775 / runt related transcription factor 2 / Q13950*  / complex / reaction






 

1 s.

 
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