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Twist1
Gene Detail
 Symbol
Name
ID
Twist1
twist basic helix-loop-helix transcription factor 1
MGI:98872
Synonyms bHLHa38, charlie chaplin, M-Twist, pdt, Pluridigite, Ska10, Skam10Jus
Feature Type protein coding gene
Genetic Map
Chromosome 12
14.81 cM, cytoband B-C1
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr12:33957671-33959817 bp, + strand
From Ensembl annotation of GRCm38

  2147 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:402  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 chicken; 3 zebrafish

Protein SuperFamily: basic helix-loop-helix transcription factor, Twist/Epicardin/Musculin types
Gene Tree: Twist1

Human
homologs
Human Homolog TWIST1, twist family bHLH transcription factor 1
NCBI Gene ID 7291
neXtProt AC  NX_Q15672
Human Synonyms  ACS3, bHLHa38, BPES2, BPES3, CRS, CRS1, SCS, TWIST
Human Chr (Location)  7p21.2; chr7:18999692-19117672 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human TWIST1
Alleles
and
phenotypes
All alleles(6) : Chemically induced (ENU)(2) Chemically induced (other)(1) Targeted(3)
 
Homozygous embyros have neural tube defects and die around E11. Heterozygous mutants are viable and exhibit features of human Saethre-Chotzen syndrome, including hindlimb polydactyly, craniofacial defects, long bone abnormalities, an abnormal gait and a small size.
 
Human Diseases Modeled Using Mouse Twist1 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (94 annotations)
Process aortic valve morphogenesis, cardiac neural crest cell development involved in outflow tract morphogenesis, ...
Component nucleus
Function bHLH transcription factor binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (140 records)
Data Summary: Results (518)    Tissues (317)    Images (147)
Theiler Stages: 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 8
RNA in situ 453
Northern blot 21
RT-PCR 36
cDNA source data(34)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(53) Genomic(4) cDNA(38) Primer pair(3) Other(8)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000035799 (Evidence)
Entrez Gene22160 (Evidence)
UniGene3280
DFCITC1582686
DoTSDT.530991
NIA Mouse Gene IndexU013856
Consensus CDS ProjectCCDS25879.1
International Mouse Knockout Project StatusTwist1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000035799 Ensembl Gene Model | MGI Sequence Detail 2147 C57BL/6J ±  kb
transcript ENSMUST00000049089 Ensembl | MGI Sequence Detail 1616 Not Applicable 
polypeptide ENSMUSP00000040089 Ensembl | MGI Sequence Detail 206 Not Applicable 

For the selected sequences
All sequences(16) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(8 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Protein Ontology PR:000016846 twist-related protein 1
References (Earliest) J:8293 Shedlovsky A, et al., Induction of recessive lethal mutations in the T/t-H-2 region of the mouse genome by a point mutagen. Genet Res. 1986 Apr;47(2):135-42
(Latest) J:209349 Parsons TE, et al., Craniofacial shape variation in Twist1+/- mutant mice. Anat Rec (Hoboken). 2014 May;297(5):826-33
All references(223)
Other
accession IDs
MGD-MRK-15305, MGI:1890569, MGI:2144752, MGI:3038444

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory