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TWIST1 twist family bHLH transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 7291, updated on 2-Oct-2018

Summary

Official Symbol
TWIST1provided by HGNC
Official Full Name
twist family bHLH transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:12428
See related
Ensembl:ENSG00000122691 MIM:601622; Vega:OTTHUMG00000090821
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRS; CSO; SCS; ACS3; CRS1; BPES2; BPES3; SWCOS; TWIST; bHLHa38
Summary
This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Aug 2017]
Expression
Biased expression in fat (RPKM 17.1), endometrium (RPKM 12.4) and 10 other tissues See more
Orthologs

Genomic context

See TWIST1 in Genome Data Viewer
Location:
7p21.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (19113047..19117672, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (19039315..19157295, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene histone deacetylase 9 Neighboring gene uncharacterized LOC105375176 Neighboring gene nucleophosmin 1 pseudogene 13 Neighboring gene Fer3 like bHLH transcription factor Neighboring gene uncharacterized LOC107986773

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Craniosynostosis 1
MedGen: CN029978 OMIM: 123100 GeneReviews: Not available
Compare labs
Robinow Sorauf syndrome
MedGen: C1867146 OMIM: 180750 GeneReviews: Not available
Compare labs
Saethre-Chotzen syndrome
MedGen: C0175699 OMIM: 101400 GeneReviews: Saethre-Chotzen Syndrome
Compare labs
SWEENEY-COX SYNDROME
MedGen: C4540299 OMIM: 617746 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • HIF-2-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-2-alpha transcription factor network, organism-specific biosystem
    HIF-2-alpha transcription factor network
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Interleukin-4 and 13 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-4 and 13 signaling, organism-specific biosystemInterleukin-4 (IL4) is a principal regulatory cytokine during the immune response, crucially important in allergy and asthma (Nelms et al. 1999). When resting T cells are antigen-activated and expand...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
    Notch-mediated HES/HEY network, organism-specific biosystem
    Notch-mediated HES/HEY network
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Transcription factor regulation in adipogenesis, organism-specific biosystem (from WikiPathways)
    Transcription factor regulation in adipogenesis, organism-specific biosystemThe transcription factors involved in adipogenesis are shown in the current pathway. Adipogensis is the biological proces of cell differentation in which preadipocytes are converted into adipocytes.

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac neural crest cell migration involved in outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell proliferation involved in heart valve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
cranial suture morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
embryonic camera-type eye formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic cranial skeleton morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic digit morphogenesis TAS
Traceable Author Statement
more info
PubMed 
embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endocardial cushion morphogenesis IEA
Inferred from Electronic Annotation
more info
 
eyelid development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
mitral valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA damage response, signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of histone acetylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of histone phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of oxidative phosphorylation uncoupler activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of peroxisome proliferator activated receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphatidylinositol 3-kinase signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
odontogenesis IEA
Inferred from Electronic Annotation
more info
 
ossification TAS
Traceable Author Statement
more info
PubMed 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
outer ear morphogenesis TAS
Traceable Author Statement
more info
PubMed 
positive regulation of DNA-templated transcription, initiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of angiogenesis NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell motility NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-6 secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of monocyte chemotactic protein-1 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription regulatory region DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of tumor necrosis factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
twist-related protein 1
Names
B-HLH DNA binding protein
H-twist
TWIST homolog of drosophila
class A basic helix-loop-helix protein 38
twist basic helix-loop-helix transcription factor 1
twist homolog 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008114.2 RefSeqGene

    Range
    5001..7205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000474.3NP_000465.1  twist-related protein 1

    See identical proteins and their annotated locations for NP_000465.1

    Status: REVIEWED

    Source sequence(s)
    AW173505, BC036704
    Consensus CDS
    CCDS5367.1
    UniProtKB/Swiss-Prot
    Q15672
    Related
    ENSP00000242261.5, OTTHUMP00000116043, ENST00000242261.5, OTTHUMT00000207625
    Conserved Domains (1) summary
    pfam00010
    Location:109159
    HLH; Helix-loop-helix DNA-binding domain

RNA

  1. NR_149001.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BC036704, BU619355, HY372340

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    19113047..19117672 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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