Twist-related protein 1

TWIST1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2MJV
Identifiers
Aliases	TWIST1, twist family bHLH transcription factor 1, ACS3, BPES2, BPES3, CRS, CRS1, SCS, TWIST, bHLHa38, CSO, SWCOS
External IDs	OMIM: 601622; MGI: 98872; HomoloGene: 402; GeneCards: TWIST1; OMA:TWIST1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p21.1 Start 19,020,991 bp[1] End 19,117,636 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 A3|12 14.81 cM Start 34,007,670 bp[2] End 34,009,828 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in periodontal fiber mucosa of paranasal sinus oocyte buccal mucosa cell tendon of biceps brachii pericardium parietal pleura lactiferous duct placenta stromal cell of endometrium Top expressed in maxillary prominence mandibular prominence desmocranium hand genital tubercle allantois endocardial cushion dermis abdominal wall somatopleuric mesenchyme More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein dimerization activity protein homodimerization activity protein domain specific binding DNA-binding transcription factor activity transcription factor binding bHLH transcription factor binding E-box binding protein binding protein heterodimerization activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm Biological process positive regulation of transcription regulatory region DNA binding embryonic skeletal system morphogenesis positive regulation of fatty acid beta-oxidation roof of mouth development cell differentiation positive regulation of cell motility regulation of transcription, DNA-templated negative regulation of molecular function ossification rhythmic process positive regulation of epithelial cell proliferation negative regulation of striated muscle tissue development regulation of bone mineralization aortic valve morphogenesis negative regulation of cell differentiation cardiac neural crest cell migration involved in outflow tract morphogenesis cellular response to growth factor stimulus positive regulation of monocyte chemotactic protein-1 production muscle organ development embryonic digit morphogenesis negative regulation of apoptotic process neuron migration in utero embryonic development negative regulation of transcription by RNA polymerase II outer ear morphogenesis eyelid development in camera-type eye mitral valve morphogenesis positive regulation of DNA-templated transcription, initiation positive regulation of epithelial to mesenchymal transition negative regulation of DNA-binding transcription factor activity transcription, DNA-templated negative regulation of osteoblast differentiation positive regulation of angiogenesis hindlimb morphogenesis negative regulation of phosphatidylinositol 3-kinase signaling cranial suture morphogenesis odontogenesis endocardial cushion morphogenesis negative regulation of double-strand break repair multicellular organism development cardiac neural crest cell development involved in outflow tract morphogenesis neural tube closure positive regulation of gene expression negative regulation of DNA damage response, signal transduction by p53 class mediator negative regulation of skeletal muscle tissue development embryonic limb morphogenesis negative regulation of oxidative phosphorylation uncoupler activity osteoblast differentiation positive regulation of tumor necrosis factor production cell proliferation involved in heart valve development embryonic cranial skeleton morphogenesis negative regulation of tumor necrosis factor production negative regulation of peroxisome proliferator activated receptor signaling pathway positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation negative regulation of histone acetylation embryonic camera-type eye formation bone development embryonic forelimb morphogenesis cellular response to hypoxia positive regulation of transcription by RNA polymerase II negative regulation of cellular senescence embryonic hindlimb morphogenesis negative regulation of transcription, DNA-templated cytokine-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7291 22160 Ensembl ENSG00000122691 ENSMUSG00000035799 UniProt Q15672 P26687 RefSeq (mRNA) NM_000474 NM_011658 RefSeq (protein) NP_000465 NP_035788 Location (UCSC) Chr 7: 19.02 – 19.12 Mb Chr 12: 34.01 – 34.01 Mb PubMed search [3] [4]
Wikidata
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Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.^[5][6]