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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; 1 western clawed frog; 3 zebrafish

HCOP human homology predictions: TWIST1
Protein SuperFamily: basic helix-loop-helix transcription factor, Twist/Epicardin/Musculin types
Gene Tree: Twist1

Human
homologs
TWIST1, twist family bHLH transcription factor 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 7291
neXtProt AC: NX_Q15672

Human Synonyms: ACS3, bHLHa38, BPES2, BPES3, CRS, CRS1, CSO, SCS, TWIST

Human Chr (Location): 7p21.2; chr7:19113047-19117672 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human TWIST1

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(2) Chemically induced (other)(1) Targeted(3) Transgenic(1)
Incidental mutations (data from CvDC )
 
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 in Mice Using Twist1 (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(1)
Interactions
Twist1 interacts with 176 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (150 records)
Data Summary: Results (518)    Tissues (318)    Images (147)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 8
RNA in situ 453
Northern blot 21
RT-PCR 36
cDNA source data(34)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase twist1 ; ZFIN twist1a, twist1b    NEW 
Molecular
reagents
All nucleic(53) Genomic(4) cDNA(38) Primer pair(3) Other(8)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000035799 (Evidence)
Entrez Gene 22160 (Evidence)
UniGene 3280
DFCI TC1582686
DoTS DT.530991
NIA Mouse Gene Index U013856
Consensus CDS Project CCDS25879.1
International Mouse Phenotyping Consortium Status Twist1
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:217336 Loebel DA, et al., Timed deletion of Twist1 in the limb bud reveals age-specific impacts on autopod and zeugopod patterning. PLoS One. 2014;9(6):e98945
All references(233)
Disease annotation references (6)
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
07/21/2015
MGI 5.22
The Jackson Laboratory