Details for: TWIST1

Gene ID: 7291

Symbol: TWIST1

Ensembl ID: ENSG00000122691

Description: twist family bHLH transcription factor 1

Associated with

  • Cytokine signaling in immune system
    (R-HSA-1280215)
  • Disease
    (R-HSA-1643685)
  • Diseases of signal transduction by growth factor receptors and second messengers
    (R-HSA-5663202)
  • Gene expression (transcription)
    (R-HSA-74160)
  • Generic transcription pathway
    (R-HSA-212436)
  • Immune system
    (R-HSA-168256)
  • Interleukin-4 and interleukin-13 signaling
    (R-HSA-6785807)
  • Nuclear events stimulated by alk signaling in cancer
    (R-HSA-9725371)
  • Regulation of runx2 expression and activity
    (R-HSA-8939902)
  • Rna polymerase ii transcription
    (R-HSA-73857)
  • Signaling by alk fusions and activated point mutants
    (R-HSA-9725370)
  • Signaling by alk in cancer
    (R-HSA-9700206)
  • Signaling by interleukins
    (R-HSA-449147)
  • Transcriptional regulation by runx2
    (R-HSA-8878166)
  • Aortic valve morphogenesis
    (GO:0003180)
  • Bhlh transcription factor binding
    (GO:0043425)
  • Cardiac neural crest cell migration involved in outflow tract morphogenesis
    (GO:0003253)
  • Cell proliferation involved in heart valve development
    (GO:2000793)
  • Cellular response to growth factor stimulus
    (GO:0071363)
  • Cellular response to hypoxia
    (GO:0071456)
  • Chromatin
    (GO:0000785)
  • Cis-regulatory region sequence-specific dna binding
    (GO:0000987)
  • Cranial suture morphogenesis
    (GO:0060363)
  • Developmental process
    (GO:0032502)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-binding transcription factor binding
    (GO:0140297)
  • Dna-binding transcription repressor activity
    (GO:0001217)
  • E-box binding
    (GO:0070888)
  • Embryonic camera-type eye formation
    (GO:0060900)
  • Embryonic cranial skeleton morphogenesis
    (GO:0048701)
  • Embryonic digit morphogenesis
    (GO:0042733)
  • Embryonic forelimb morphogenesis
    (GO:0035115)
  • Embryonic hindlimb morphogenesis
    (GO:0035116)
  • Endocardial cushion morphogenesis
    (GO:0003203)
  • Energy homeostasis
    (GO:0097009)
  • Eyelid development in camera-type eye
    (GO:0061029)
  • Histone deacetylase binding
    (GO:0042826)
  • In utero embryonic development
    (GO:0001701)
  • Mitral valve morphogenesis
    (GO:0003183)
  • Muscle organ development
    (GO:0007517)
  • Negative regulation of apoptotic process
    (GO:0043066)
  • Negative regulation of cellular senescence
    (GO:2000773)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Negative regulation of dna damage response, signal transduction by p53 class mediator
    (GO:0043518)
  • Negative regulation of double-strand break repair
    (GO:2000780)
  • Negative regulation of macrophage cytokine production
    (GO:0010936)
  • Negative regulation of mirna transcription
    (GO:1902894)
  • Negative regulation of osteoblast differentiation
    (GO:0045668)
  • Negative regulation of peroxisome proliferator activated receptor signaling pathway
    (GO:0035359)
  • Negative regulation of phosphatidylinositol 3-kinase/protein kinase b signal transduction
    (GO:0051898)
  • Negative regulation of skeletal muscle tissue development
    (GO:0048642)
  • Negative regulation of striated muscle tissue development
    (GO:0045843)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Negative regulation of tumor necrosis factor production
    (GO:0032720)
  • Neural tube closure
    (GO:0001843)
  • Neuron migration
    (GO:0001764)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Ossification
    (GO:0001503)
  • Osteoblast differentiation
    (GO:0001649)
  • Outer ear morphogenesis
    (GO:0042473)
  • Positive regulation of angiogenesis
    (GO:0045766)
  • Positive regulation of cell migration
    (GO:0030335)
  • Positive regulation of cell motility
    (GO:2000147)
  • Positive regulation of dna-templated transcription initiation
    (GO:2000144)
  • Positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation
    (GO:2000802)
  • Positive regulation of epithelial cell proliferation
    (GO:0050679)
  • Positive regulation of epithelial to mesenchymal transition
    (GO:0010718)
  • Positive regulation of fatty acid beta-oxidation
    (GO:0032000)
  • Positive regulation of gene expression
    (GO:0010628)
  • Positive regulation of interleukin-6 production
    (GO:0032755)
  • Positive regulation of monocyte chemotactic protein-1 production
    (GO:0071639)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Positive regulation of transcription regulatory region dna binding
    (GO:2000679)
  • Positive regulation of tumor necrosis factor production
    (GO:0032760)
  • Protein binding
    (GO:0005515)
  • Protein domain specific binding
    (GO:0019904)
  • Protein homodimerization activity
    (GO:0042803)
  • Regulation of bone mineralization
    (GO:0030500)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rhythmic process
    (GO:0048511)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Roof of mouth development
    (GO:0060021)
  • Transcription coregulator binding
    (GO:0001221)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 4.6219
    Cell Significance Index: 132.4900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 4.4029
    Cell Significance Index: 92.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.4596
    Cell Significance Index: 92.7000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 2.7255
    Cell Significance Index: 43.2400
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 2.1370
    Cell Significance Index: 26.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.4099
    Cell Significance Index: 405.6800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5962
    Cell Significance Index: 81.8700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4646
    Cell Significance Index: 59.5600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.4215
    Cell Significance Index: 9.0100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2967
    Cell Significance Index: 5.7900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.2843
    Cell Significance Index: 14.3700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.0851
    Cell Significance Index: 0.7200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0712
    Cell Significance Index: 32.3400
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.0541
    Cell Significance Index: 0.2500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0536
    Cell Significance Index: 33.4800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0357
    Cell Significance Index: 7.1600
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.0312
    Cell Significance Index: 0.5000
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.0050
    Cell Significance Index: 0.0700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0006
    Cell Significance Index: 0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0071
    Cell Significance Index: -13.3300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0082
    Cell Significance Index: -6.0500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0101
    Cell Significance Index: -18.6500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0125
    Cell Significance Index: -19.2200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0140
    Cell Significance Index: -7.9000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0141
    Cell Significance Index: -19.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0167
    Cell Significance Index: -10.6000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0171
    Cell Significance Index: -12.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0219
    Cell Significance Index: -7.8700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0245
    Cell Significance Index: -13.3800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0393
    Cell Significance Index: -4.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0416
    Cell Significance Index: -8.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0453
    Cell Significance Index: -8.1700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0491
    Cell Significance Index: -1.3100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0496
    Cell Significance Index: -0.8300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0498
    Cell Significance Index: -8.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0512
    Cell Significance Index: -10.1700
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0591
    Cell Significance Index: -0.5700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0707
    Cell Significance Index: -8.1000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0776
    Cell Significance Index: -8.8600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0784
    Cell Significance Index: -11.4000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0834
    Cell Significance Index: -10.2500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0931
    Cell Significance Index: -12.0300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1103
    Cell Significance Index: -11.2700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1112
    Cell Significance Index: -13.1100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1122
    Cell Significance Index: -1.2200
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.1129
    Cell Significance Index: -0.5400
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.1244
    Cell Significance Index: -0.7300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1336
    Cell Significance Index: -13.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1392
    Cell Significance Index: -6.5400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1429
    Cell Significance Index: -1.8300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1596
    Cell Significance Index: -10.7300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1688
    Cell Significance Index: -12.5800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1778
    Cell Significance Index: -4.9700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1949
    Cell Significance Index: -14.9600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1969
    Cell Significance Index: -12.7000
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.2067
    Cell Significance Index: -0.9000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2099
    Cell Significance Index: -12.9000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2149
    Cell Significance Index: -6.3300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2192
    Cell Significance Index: -5.4700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2212
    Cell Significance Index: -7.7500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2319
    Cell Significance Index: -5.9600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2431
    Cell Significance Index: -13.6400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2544
    Cell Significance Index: -2.8900
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.3037
    Cell Significance Index: -3.5300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3071
    Cell Significance Index: -14.3200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3137
    Cell Significance Index: -10.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3386
    Cell Significance Index: -17.7800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3398
    Cell Significance Index: -4.8800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3400
    Cell Significance Index: -8.9400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3402
    Cell Significance Index: -15.0500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3410
    Cell Significance Index: -17.7200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.3451
    Cell Significance Index: -8.3600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3468
    Cell Significance Index: -12.0500
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.3549
    Cell Significance Index: -3.0700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.3688
    Cell Significance Index: -7.5100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3820
    Cell Significance Index: -5.4700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.3857
    Cell Significance Index: -3.1500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3943
    Cell Significance Index: -14.9300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4121
    Cell Significance Index: -13.1300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4268
    Cell Significance Index: -12.1800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4334
    Cell Significance Index: -15.9100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4365
    Cell Significance Index: -12.8200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4447
    Cell Significance Index: -11.9000
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.4689
    Cell Significance Index: -6.6700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.4716
    Cell Significance Index: -16.5700
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.4816
    Cell Significance Index: -2.9500
  • Cell Name: osteoclast (CL0000092)
    Fold Change: -0.4893
    Cell Significance Index: -5.0000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5052
    Cell Significance Index: -12.9100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5111
    Cell Significance Index: -12.7500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.5165
    Cell Significance Index: -12.9000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.5214
    Cell Significance Index: -21.3700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.5267
    Cell Significance Index: -13.4200
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.5311
    Cell Significance Index: -8.0800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.5578
    Cell Significance Index: -6.9600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.5687
    Cell Significance Index: -11.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.5730
    Cell Significance Index: -16.5100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5786
    Cell Significance Index: -12.6700
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.5897
    Cell Significance Index: -5.9400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.5920
    Cell Significance Index: -12.7900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6135
    Cell Significance Index: -13.0200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Twist family bHLH transcription factor 1**: TWIST1 belongs to the Twist family of transcription factors, which are known for their role in regulating cell fate decisions during development and tissue homeostasis. 2. **Cellular specificity**: TWIST1 is expressed in various cell types, including respiratory basal cells, retinal bipolar neurons, fibroblasts from mammary and breast tissues, and mural cells. 3. **Regulatory mechanisms**: TWIST1 exerts its effects through direct binding to specific DNA sequences, influencing gene expression and transcriptional regulation. **Pathways and Functions:** 1. **Developmental processes**: TWIST1 is involved in the development of various tissues and organs, including the aortic valve, cardiac neural crest cells, and embryonic cranial skeleton. 2. **Cell proliferation and migration**: TWIST1 promotes cell proliferation and migration in various contexts, including heart valve development and cancer metastasis. 3. **Apoptosis and immune response**: TWIST1 has anti-apoptotic effects and regulates immune responses, modulating the production of cytokines and chemokines. 4. **Signaling pathways**: TWIST1 interacts with various signaling pathways, including the Notch, Wnt, and PI3K/AKT pathways, influencing cell fate decisions and tissue homeostasis. **Clinical Significance:** 1. **Cancer**: TWIST1 is overexpressed in various cancers, including breast, lung, and colon cancer, and is associated with tumor progression and metastasis. 2. **Cardiovascular disease**: TWIST1 is involved in the development of cardiovascular disease, including aortic valve disease and cardiac neural crest cell migration disorders. 3. **Immune system disorders**: TWIST1 regulates immune responses, modulating the production of cytokines and chemokines, and is implicated in autoimmune diseases, such as rheumatoid arthritis. 4. **Neurological disorders**: TWIST1 is expressed in the nervous system and is involved in the development and maintenance of neural tissue, with implications for neurological disorders, such as Alzheimer's disease. In conclusion, TWIST1 is a multifunctional transcription factor that plays a critical role in various developmental processes, disease, and immune system disorders. Further research is needed to fully elucidate its mechanisms of action and its potential as a therapeutic target for various diseases.

Genular Protein ID: 2344616009

Symbol: TWST1_HUMAN

Name: Twist-related protein 1

UniProtKB Accession Codes:

Q15672 A4D128 Q92487 Q99804

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 69 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 4 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9073070

Title: Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues.

PubMed ID: 9073070

DOI: 10.1016/s0378-1119(96)00727-5

PubMed ID: 8995765

Title: The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart.

PubMed ID: 8995765

DOI: 10.1007/s003359900269

PubMed ID: 8988166

Title: Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

PubMed ID: 8988166

DOI: 10.1038/ng0197-36

PubMed ID: 9215678

Title: Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome.

PubMed ID: 9215678

DOI: 10.1093/hmg/6.7.1079

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12553906

Title: Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity.

PubMed ID: 12553906

DOI: 10.1016/s0092-8674(03)00002-3

PubMed ID: 8988167

Title: Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

PubMed ID: 8988167

DOI: 10.1038/ng0197-42

PubMed ID: 10465122

Title: Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.

PubMed ID: 10465122

PubMed ID: 11754069

Title: Another TWIST on Baller-Gerold syndrome.

PubMed ID: 11754069

DOI: 10.1002/ajmg.10065

PubMed ID: 17343269

Title: Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

PubMed ID: 17343269

DOI: 10.1002/ajmg.a.31630

PubMed ID: 25981568

Title: Functional analysis of two novel mutations in TWIST1 protein motifs found in ventricular septal defect patients.

PubMed ID: 25981568

DOI: 10.1007/s00246-015-1202-9

PubMed ID: 28369379

Title: Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

PubMed ID: 28369379

DOI: 10.1093/hmg/ddx107

Sequence Information:

  • Length: 202
  • Mass: 20954
  • Checksum: 9394E4351BA1D081
  • Sequence:
    • MMQDVSSSPV SPADDSLSNS EEEPDRQQPP SGKRGGRKRR SSRRSAGGGA GPGGAAGGGV 
GGGDEPGSPA QGKRGKKSAG CGGGGGAGGG GGSSSGGGSP QSYEELQTQR VMANVRERQR 
TQSLNEAFAA LRKIIPTLPS DKLSKIQTLK LAARYIDFLY QVLQSDELDS KMASCSYVAH 
ERLSYAFSVW RMEGAWSMSA SH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.