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Aliases for TWIST1 Gene

Aliases for TWIST1 Gene

  • Twist Family BHLH Transcription Factor 1 2 3 5
  • Twist Basic Helix-Loop-Helix Transcription Factor 1 2 3
  • Class A Basic Helix-Loop-Helix Protein 38 3 4
  • H-Twist 3 4
  • BHLHa38 3 4
  • TWIST 3 4
  • Blepharophimosis, Epicanthus Inversus And Ptosis 3 2
  • Twist Homolog 1 (Drosophila) 2
  • TWIST Homolog Of Drosophila 3
  • B-HLH DNA Binding Protein 3
  • Saethre-Chotzen Syndrome 2
  • Acrocephalosyndactyly 3 2
  • Craniosynostosis 2
  • Twist Homolog 1 3
  • BPES2 3
  • BPES3 3
  • ACS3 3
  • CRS1 3
  • CSO 3
  • SCS 3
  • CRS 3

External Ids for TWIST1 Gene

Previous HGNC Symbols for TWIST1 Gene

  • ACS3
  • BPES3
  • TWIST
  • CRS

Previous GeneCards Identifiers for TWIST1 Gene

  • GC07M018800
  • GC07M018900
  • GC07M018901
  • GC07M018930
  • GC07M019121
  • GC07M018999

Summaries for TWIST1 Gene

Entrez Gene Summary for TWIST1 Gene

  • Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for TWIST1 Gene

TWIST1 (Twist Family BHLH Transcription Factor 1) is a Protein Coding gene. Diseases associated with TWIST1 include saethre-chotzen syndrome and craniosynostosis, type 1. Among its related pathways are Cellular response to hypoxia and Inhibition of Ribosome Biogenesis by p14(ARF). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is LYL1.

UniProtKB/Swiss-Prot for TWIST1 Gene

  • Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity).

Gene Wiki entry for TWIST1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TWIST1 Gene

Genomics for TWIST1 Gene

Regulatory Elements for TWIST1 Gene

Genomic Location for TWIST1 Gene

Chromosome:
7
Start:
19,020,991 bp from pter
End:
19,117,672 bp from pter
Size:
96,682 bases
Orientation:
Minus strand

Genomic View for TWIST1 Gene

Genes around TWIST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TWIST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TWIST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TWIST1 Gene

Proteins for TWIST1 Gene

  • Protein details for TWIST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15672-TWST1_HUMAN
    Recommended name:
    Twist-related protein 1
    Protein Accession:
    Q15672
    Secondary Accessions:
    • A4D128
    • Q92487
    • Q99804

    Protein attributes for TWIST1 Gene

    Size:
    202 amino acids
    Molecular mass:
    20954 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Homodimer or heterodimer with E proteins such as TCF3. ID1 binds preferentially to TCF3 but does not interact efficiently with TWIST1 so ID1 levels control the amount of TCF3 available to dimerize with TWIST1 and thus determine the type of dimer formed (By similarity).

    Three dimensional structures from OCA and Proteopedia for TWIST1 Gene

neXtProt entry for TWIST1 Gene

Proteomics data for TWIST1 Gene at MOPED

Post-translational modifications for TWIST1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TWIST1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TWIST1 Gene

Domains & Families for TWIST1 Gene

Gene Families for TWIST1 Gene

Protein Domains for TWIST1 Gene

Suggested Antigen Peptide Sequences for TWIST1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15672

UniProtKB/Swiss-Prot:

TWST1_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with TWIST1: view

Function for TWIST1 Gene

Molecular function for TWIST1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity).
genes like me logo Genes that share phenotypes with TWIST1: view

Human Phenotype Ontology for TWIST1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TWIST1 Gene

MGI Knock Outs for TWIST1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TWIST1 Gene

Localization for TWIST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TWIST1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TWIST1 Gene COMPARTMENTS Subcellular localization image for TWIST1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 2
cytosol 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for TWIST1 Gene

Pathways & Interactions for TWIST1 Gene

genes like me logo Genes that share pathways with TWIST1: view

Pathways by source for TWIST1 Gene

SIGNOR curated interactions for TWIST1 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for TWIST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 17690110
GO:0001503 ossification IEA,TAS 11001584
GO:0001649 osteoblast differentiation IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001764 neuron migration IEA --
genes like me logo Genes that share ontologies with TWIST1: view

Drugs & Compounds for TWIST1 Gene

(3) Drugs for TWIST1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TWIST1: view

Transcripts for TWIST1 Gene

mRNA/cDNA for TWIST1 Gene

Unigene Clusters for TWIST1 Gene

Twist basic helix-loop-helix transcription factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TWIST1 Gene

No ASD Table

Relevant External Links for TWIST1 Gene

GeneLoc Exon Structure for
TWIST1
ECgene alternative splicing isoforms for
TWIST1

Expression for TWIST1 Gene

mRNA expression in normal human tissues for TWIST1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TWIST1 Gene

This gene is overexpressed in Breast - Mammary Tissue (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TWIST1 Gene



SOURCE GeneReport for Unigene cluster for TWIST1 Gene Hs.66744

mRNA Expression by UniProt/SwissProt for TWIST1 Gene

Q15672-TWST1_HUMAN
Tissue specificity: Subset of mesodermal cells.
genes like me logo Genes that share expression patterns with TWIST1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for TWIST1 Gene

Orthologs for TWIST1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TWIST1 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Twist1 35
  • 92.08 (n)
  • 94.06 (a)
Twist1 16
Twist1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TWIST1 35
  • 98.18 (n)
  • 98.51 (a)
TWIST1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Twist1 35
  • 92.9 (n)
  • 94.55 (a)
cow
(Bos Taurus)
Mammalia TWIST1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TWIST1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TWIST1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves TWIST1 35
  • 87.83 (n)
  • 87.83 (a)
TWIST1 36
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TWIST1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Twist1 35
twist1 35
  • 75.1 (n)
  • 78.31 (a)
African clawed frog
(Xenopus laevis)
Amphibia twist1-A 35
zebrafish
(Danio rerio)
Actinopterygii LOC100535497 35
  • 73.82 (n)
  • 80.37 (a)
twist1 35
twist1a 36
  • 77 (a)
OneToMany
twist1b 36
  • 80 (a)
OneToMany
twist1b 36
  • 81 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11244 35
fruit fly
(Drosophila melanogaster)
Insecta twi 36
  • 17 (a)
OneToMany
Species with no ortholog for TWIST1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TWIST1 Gene

ENSEMBL:
Gene Tree for TWIST1 (if available)
TreeFam:
Gene Tree for TWIST1 (if available)

Paralogs for TWIST1 Gene

Paralogs for TWIST1 Gene

(5) SIMAP similar genes for TWIST1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TWIST1: view

Variants for TWIST1 Gene

Sequence variations from dbSNP and Humsavar for TWIST1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_004495 Saethre-Chotzen syndrome (SCS)
VAR_004496 Saethre-Chotzen syndrome (SCS)
rs1800126 - 19,117,231(-) CGCCG(A/G)GCGGC reference, missense
VAR_014822 -
VAR_015219 Saethre-Chotzen syndrome (SCS)

Structural Variations from Database of Genomic Variants (DGV) for TWIST1 Gene

Variant ID Type Subtype PubMed ID
nsv483166 CNV Complex 15286789

Variation tolerance for TWIST1 Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TWIST1 Gene

HapMap Linkage Disequilibrium report
TWIST1
Human Gene Mutation Database (HGMD)
TWIST1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TWIST1 Gene

Disorders for TWIST1 Gene

MalaCards: The human disease database

(34) MalaCards diseases for TWIST1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
saethre-chotzen syndrome
  • saethre-chotzen syndrome with eyelid anomalies
craniosynostosis, type 1
  • craniosynostosis
robinow-sorauf syndrome
  • rss
isolated scaphocephaly
  • isolated dolichocephaly
isolated brachycephaly
  • non-syndromic bicoronal synostosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TWST1_HUMAN
  • Craniosynostosis 1 (CRS1) [MIM:123100]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269 PubMed:17343269}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Robinow-Sorauf syndrome (RSS) [MIM:180750]: An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux. {ECO:0000269 PubMed:10465122}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Saethre-Chotzen syndrome (SCS) [MIM:101400]: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. {ECO:0000269 PubMed:11754069, ECO:0000269 PubMed:8988166, ECO:0000269 PubMed:8988167}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TWIST1

Genetic Association Database (GAD)
TWIST1
Human Genome Epidemiology (HuGE) Navigator
TWIST1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TWIST1
genes like me logo Genes that share disorders with TWIST1: view

No data available for Genatlas for TWIST1 Gene

Publications for TWIST1 Gene

  1. Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. (PMID: 17343269) Seto M.L. … Cunningham M.L. (Am. J. Med. Genet. A 2007) 2 3 4 48 67
  2. Saethre-Chotzen syndrome: a case report. (PMID: 19860490) PeA+a W.A. … Oberoi S. (Cleft Palate Craniofac. J. 2010) 3 23
  3. [Expression of Twist, E-cadherin and N-cadherin in breast carcinoma and their clinical significance]. (PMID: 20388391) Ma Y.H. … Chen J. (Zhonghua Bing Li Xue Za Zhi 2010) 3 23
  4. Gene expression profiling in TWIST-depleted gastric cancer cells. (PMID: 19051271) Feng M.Y. … Geng J.S. (Anat Rec (Hoboken) 2009) 3 23
  5. Transcription factors Snail, Slug, Twist, and SIP1 in spindle cell carcinoma of the head and neck. (PMID: 19381684) Kojc N. … Becker K.F. (Virchows Arch. 2009) 3 23

Products for TWIST1 Gene

Sources for TWIST1 Gene

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