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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
  • Twist-Related Protein 1 3
  • 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

  • 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]

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 1. Among its related pathways are Transcription factor regulation in adipogenesis and Adipogenesis. 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 TWIST2.

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

Additional gene information for TWIST1 Gene

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

Genomics for TWIST1 Gene

Regulatory Elements for TWIST1 Gene

Enhancers for TWIST1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H018866 1.3 Ensembl ENCODE dbSUPER 10.3 +250.9 250871 1 PKNOX1 JUN MAX EBF1 BATF POLR2A ZNF143 FOS ATF7 RUNX3 TWIST1 LOC105375176 RN7SKP266
GH07H019104 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 5.2 +5.5 5460 16 PKNOX1 ZSCAN4 RAD21 GLIS2 SCRT2 RCOR1 EGR2 SP3 USF2 ZEB2 FERD3L ENSG00000229533 TWIST1 LOC105375174 GC07M019093
GH07H018828 1.1 VISTA ENCODE 8 +287.9 287873 1 PKNOX1 RFX1 FEZF1 PRDM6 POLR2A ZNF341 RCOR1 PRDM4 WT1 TWIST1 RN7SKP266 LOC105375176
GH07H019664 0.6 ENCODE 11.3 -546.8 -546836 0 PKNOX1 GATA3 NBN BMI1 ELF1 ATF7 RFX5 TWIST1 ENSG00000236536 TWISTNB FERD3L ENSG00000229533 PIR43984 MIR3146
GH07H018977 1.1 FANTOM5 Ensembl ENCODE 5.2 +139.6 139602 1 GATA3 JUND POLR2A JUN FOS TWIST1 GC07P018997 NPM1P13
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TWIST1 on UCSC Golden Path with GeneCards custom track

Promoters for TWIST1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209143 172 1401 CTCF POLR2A PATZ1 RCOR1 EZH2 MAZ SP3 L3MBTL2 SP2 ZNF398
ENSR00000325012 1971 1400 CTCF PKNOX1 SP2 GLIS2 PRDM6 KLF16 ZBTB48 PATZ1 CTBP2 PRDM10

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

Post-translational modifications for TWIST1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TWIST1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TWIST1 (TWIST1)

No data available for DME Specific Peptides for TWIST1 Gene

Domains & Families for TWIST1 Gene

Gene Families for TWIST1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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

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

No data available for UniProtKB/Swiss-Prot for TWIST1 Gene

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).

Phenotypes From GWAS Catalog for TWIST1 Gene

Gene Ontology (GO) - Molecular Function for TWIST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 17332325
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 18504427
GO:0008134 transcription factor binding IPI,IEA 15545268
genes like me logo Genes that share ontologies with TWIST1: view
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TWIST1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TWIST1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TWIST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10749989
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with TWIST1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TWIST1 Gene

Pathways & Interactions for TWIST1 Gene

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

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 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

Clone Products

  • Applied Biological Materials Clones for TWIST1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of TWIST1 Gene:

TWIST1

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.

Evidence on tissue expression from TISSUES for TWIST1 Gene

  • Lung(4.8)
  • Nervous system(4.8)
  • Muscle(2.8)
  • Heart(2.5)
  • Eye(2.4)
  • Intestine(2.4)
  • Bone(2.3)
  • Blood(2.2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TWIST1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • breast
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • radius
  • toe
  • ulna
  • upper limb
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with TWIST1: view

Primer 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
cow
(Bos Taurus)
Mammalia TWIST1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TWIST1 33 34
  • 98.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TWIST1 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Twist1 33
  • 92.9 (n)
mouse
(Mus musculus)
Mammalia Twist1 33 16 34
  • 92.08 (n)
oppossum
(Monodelphis domestica)
Mammalia TWIST1 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves TWIST1 33 34
  • 87.83 (n)
lizard
(Anolis carolinensis)
Reptilia TWIST1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia twist1 33
  • 75.1 (n)
Twist1 33
African clawed frog
(Xenopus laevis)
Amphibia twist1-A 33
zebrafish
(Danio rerio)
Actinopterygii twist1a 34
  • 77 (a)
OneToMany
twist1b 33 34 34
  • 73.82 (n)
twist1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11244 33
fruit fly
(Drosophila melanogaster)
Insecta twi 34
  • 17 (a)
OneToMany
Species where no ortholog for TWIST1 was found in the sources mined by GeneCards:
  • 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
rs104894057 Pathogenic, Saethre-Chotzen syndrome (SCS) [MIM:101400] 19,116,966(-) GCGCC(A/C)GCGCA reference, missense
rs104894059 Pathogenic, Saethre-Chotzen syndrome (SCS) [MIM:101400] 19,116,856(-) GGTAC(A/G)TCGAC reference, missense
rs121909189 Pathogenic, Saethre-Chotzen syndrome (SCS) [MIM:101400] 19,116,930(-) CGCGC(C/T)GCGGA reference, missense
rs121909190 Pathogenic, Craniosynostosis 1 (CRS1) [MIM:123100] 19,116,766(-) GCTAC(A/G)CCTTC reference, missense
rs121909191 Pathogenic, Craniosynostosis 1 (CRS1) [MIM:123100] 19,116,759(-) CTTCT(C/T)GGTCT reference, missense

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

Variant ID Type Subtype PubMed ID
esv3612462 CNV loss 21293372

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

Human Gene Mutation Database (HGMD)
TWIST1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TWIST1

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

Disorders for TWIST1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
saethre-chotzen syndrome
  • saethre-chotzen syndrome with eyelid anomalies
craniosynostosis 1
  • craniostenosis
robinow-sorauf syndrome
  • rss
craniosynostosis, nonsyndromic
  • craniosynostosis 1
twist1-related craniosynostosis
  • craniosynostosis
- 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 ML … Cunningham ML (American journal of medical genetics. Part A 2007) 2 3 4 45 60
  2. Another TWIST on Baller-Gerold syndrome. (PMID: 11754069) Seto ML … Cunningham ML (American journal of medical genetics 2001) 3 4 22 60
  3. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. (PMID: 8988166) Howard TD … Jabs EW (Nature genetics 1997) 3 4 22 60
  4. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. (PMID: 8988167) el Ghouzzi V … Bonaventure J (Nature genetics 1997) 3 4 22 60
  5. Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. (PMID: 9215678) Krebs I … Kunz J (Human molecular genetics 1997) 3 4 22 60

Products for TWIST1 Gene

Sources for TWIST1 Gene

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