AutismKB 2.0

Annotation Details for TWIST1


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Basic Information Top
Gene Symbol:TWIST1 ( ACS3,BPES2,BPES3,CRS1,SCS,TWIST,bHLHa38 )
Gene Full Name: twist homolog 1 (Drosophila)
Band: 7p21.1
Quick LinksEntrez ID:7291; OMIM: 601622; Uniprot ID:TWST1_HUMAN; ENSEMBL ID: ENSG00000122691; HGNC ID: 12428
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus10749989
GO:0005654TAS-nucleoplasm-
GO ID Evidence Qualifier GO_term References
GO:0000981IDA-RNA polymerase II transcription factor activity, sequence-specific DNA binding17332325
GO:0005515IPI-protein binding18504427
GO:0008134IPI-transcription factor binding15545268
GO:0019904IEA-protein domain specific binding-
GO:0042803IEA-protein homodimerization activity-
GO:0043425IPI-bHLH transcription factor binding10749989
GO:0046982IEA-protein heterodimerization activity-
GO:0070888IDA-E-box binding17332325
GO ID Evidence Qualifier GO_term References
GO:0000122IMP-negative regulation of transcription from RNA polymerase II promoter17690110
GO:0001503TAS-ossification11001584
GO:0001649IEA-osteoblast differentiation-
GO:0001701IEA-in utero embryonic development-
GO:0001764IEA-neuron migration-
GO:0001843IEA-neural tube closure-
GO:0003180IMP-aortic valve morphogenesis20804746
GO:0003183IEA-mitral valve morphogenesis-
GO:0003203IEA-endocardial cushion morphogenesis-
GO:0003253IEA-cardiac neural crest cell migration involved in outflow tract morphogenesis-
GO:0006351IEA-transcription, DNA-templated-
GO:0007517IEA-muscle organ development-
GO:0010628IMP-positive regulation of gene expression17003487
GO:0010718IMP-positive regulation of epithelial to mesenchymal transition18297062
GO:0014067IMP-negative regulation of phosphatidylinositol 3-kinase signaling17003487
GO:0030500IMP-regulation of bone mineralization19597909
GO:0032000IMP-positive regulation of fatty acid beta-oxidation20007935
GO:0032720IEA-negative regulation of tumor necrosis factor production-
GO:0032760IMP-positive regulation of tumor necrosis factor production20007935
GO:0033128IMP-negative regulation of histone phosphorylation17690110
GO:0035067IEA-negative regulation of histone acetylation-
GO:0035115IEA-embryonic forelimb morphogenesis-
GO:0035116IEA-embryonic hindlimb morphogenesis-
GO:0035359IEA-negative regulation of peroxisome proliferator activated receptor signaling pathway-
GO:0042473TAS-outer ear morphogenesis11001584
GO:0042476IEA-odontogenesis-
GO:0042733TAS-embryonic digit morphogenesis11001584
GO:0043066IEA-negative regulation of apoptotic process-
GO:0043433IEA-negative regulation of sequence-specific DNA binding transcription factor activity-
GO:0043518IMP-negative regulation of DNA damage response, signal transduction by p53 class mediator17690110
GO:0045668IMP-negative regulation of osteoblast differentiation16888803
GO:0045766NAS-positive regulation of angiogenesis17987801
GO:0045892IDA-negative regulation of transcription, DNA-templated25981568
GO:0045892ISS-negative regulation of transcription, DNA-templated-
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter17332325
GO:0045944IMP-positive regulation of transcription from RNA polymerase II promoter12270142
GO:0048511IEA-rhythmic process-
GO:0048642IEA-negative regulation of skeletal muscle tissue development-
GO:0048701IMP-embryonic cranial skeleton morphogenesis8988166
GO:0050679IEA-positive regulation of epithelial cell proliferation-
GO:0060021IEA-palate development-
GO:0060363TAS-cranial suture morphogenesis11001584
GO:0060900IMP-embryonic camera-type eye formation17070479
GO:0061029IMP-eyelid development in camera-type eye17070479
GO:0071363IEA-cellular response to growth factor stimulus-
GO:0071456IMP-cellular response to hypoxia18297062
GO:0071639IMP-positive regulation of monocyte chemotactic protein-1 production20007935
GO:2000144IDA-positive regulation of DNA-templated transcription, initiation17332325
GO:2000147IMP-positive regulation of cell motility17332325
GO:2000147NAS-positive regulation of cell motility17332324
GO:2000276IEA-negative regulation of oxidative phosphorylation uncoupler activity-
GO:2000679IMP-positive regulation of transcription regulatory region DNA binding12270142
GO:2000773IMP-negative regulation of cellular senescence17690110
GO:2000778IMP-positive regulation of interleukin-6 secretion20007935
GO:2000780IMP-negative regulation of double-strand break repair17690110
GO:2000793IMP-cell proliferation involved in heart valve development20804746
GO:2000802IEA-positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TWIST1EP30010834710025406 Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
TWIST1EP30011314210025406 Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
TWIST1RELA11314212553906 Affinity Capture-Western
TWIST1RELA11190212553906 Affinity Capture-Western
TWIST1TCF311279110749989 Reconstituted Complex; Two-hybrid
TWIST1TCF311314210749989 Reconstituted Complex; Two-hybrid
KAT2BTWIST111314210025406 Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
KAT2BTWIST111437510025406 Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:98872
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-000210-6'