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Twist1 Gene Detail
Summary
  • Symbol
    Twist1
  • Name
    twist basic helix-loop-helix transcription factor 1
  • Synonyms
    bHLHa38, charlie chaplin, M-Twist, pdt, Pluridigite, Ska10, Skam10Jus
  • Feature Type
    protein coding gene
  • IDs
    MGI:98872
    NCBI Gene: 22160
  • Gene Overview
    MyGene.info: TWIST1
Location & Maps
more
  • Sequence Map
    Chr12:33957671-33959817 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2147 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    TWIST1, twist family bHLH transcription factor 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TWIST1, twist family bHLH transcription factor 1
    Orthology source: HomoloGene
  • Synonyms
    ACS3, bHLHa38, BPES2, BPES3, CRS, CRS1, CSO, SCS, TWIST
  • Links
    NCBI Gene ID: 7291
    neXtProt AC: NX_Q15672

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

Human Diseases
more
  • Diseases
    1 with Twist1 mouse models; 3 with human TWIST1 associations

Human Disease Mouse Models
       Saethre-Chotzen Syndrome; SCS   OMIM: 101400 View 8 models
       Craniosynostosis 1; CRS1   OMIM: 123100
Robinow-Sorauf Syndrome   OMIM: 180750
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 7 alleles in 10 genetic backgrounds
    9 phenotypes from multigenic genotypes
    1 images
    54 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Targeted
    3
  • Transgenic
    1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    8 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000016846 twist-related protein 1
  • InterPro Domains
    IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
    IPR015789 Twist-related
Molecular
Reagents
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  • All nucleic 55
    Genomic 4
    cDNA 39
    Primer pair 4
    Other 8

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-15305, MGI:1890569, MGI:2144752, MGI:3038444
References
more
  • Summaries
    All 240
    Developmental Gene Expression 155
    Diseases 7
    Gene Ontology 29
    Phenotypes 54
  • 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:229313 Goodnough LH, et al., Twist1 contributes to cranial bone initiation and dermal condensation by maintaining wnt signaling responsiveness. Dev Dyn. 2016 Feb;245(2):144-56

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
05/17/2016
MGI 6.03
The Jackson Laboratory