Gene: TWIST1

Basic information

Tag Content
Uniprot ID G3N341
Entrez ID 782170
Genbank protein ID
Genbank nucleotide ID NM_001191145.1
Ensembl protein ID ENSBTAP00000056314
Ensembl nucleotide ID ENSBTAG00000046922
Gene name Twist family bHLH transcription factor 1
Gene symbol TWIST1
Organism Bos taurus
NCBI taxa ID 9913
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MMQDVSSSPV SPADDSLSNS EEEPDRQQPP SGKRGGRKRR SSRRSAGGGA GPGGAAGGGV 60
GGGEEPGSPA QGKRGKKSAG CGGGGGAGGG GSSSGGGSPQ SYEELQTQRV MANVRERQRT 120
QSLNEAFAAL RKIIPTLPSD KLSKIQTLKL AARYIDFLYQ VLQSDELDSK MASCSYVAHE 180
RLSYAFSVWR MEGAWSMSAS H 201

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTWIST1782170G3N341Bos taurusPredictionMore>>
1:1 orthologTWIST1A0A452EBT3Capra hircusPredictionMore>>
1:1 orthologTWIST17291Q15672Homo sapiensPredictionMore>>
1:1 orthologTwist122160P26687CPOE13.5, E14.5, E15.5, E16.5Mus musculusPublicationMore>>
1:1 orthologTWIST1H2R5G5Pan troglodytesPredictionMore>>
1:1 ortholog100516456A0A4X1TEI0Sus scrofaPredictionMore>>
1:1 orthologTwist185489Q9EPJ1Rattus norvegicusPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005634 nucleus
GO:0043425 bHLH transcription factor binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0070888 E-box binding
GO:0019904 protein domain specific binding
GO:0042803 protein homodimerization activity
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0003180 aortic valve morphogenesis
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:2000793 cell proliferation involved in heart valve development
GO:0071456 cellular response to hypoxia
GO:0060363 cranial suture morphogenesis
GO:0060900 embryonic camera-type eye formation
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0042733 embryonic digit morphogenesis
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0061029 eyelid development in camera-type eye
GO:0001701 in utero embryonic development
GO:0003183 mitral valve morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:2000773 negative regulation of cellular senescence
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:2000780 negative regulation of double-strand break repair
GO:0035067 negative regulation of histone acetylation
GO:0033128 negative regulation of histone phosphorylation
GO:0045668 negative regulation of osteoblast differentiation
GO:2000276 negative regulation of oxidative phosphorylation uncoupler activity
GO:0035359 negative regulation of peroxisome proliferator activated receptor signaling pathway
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling
GO:0048642 negative regulation of skeletal muscle tissue development
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0032720 negative regulation of tumor necrosis factor production
GO:0001843 neural tube closure
GO:0001764 neuron migration
GO:0001649 osteoblast differentiation
GO:2000147 positive regulation of cell motility
GO:2000144 positive regulation of DNA-templated transcription, initiation
GO:2000802 positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation
GO:0032000 positive regulation of fatty acid beta-oxidation
GO:2000778 positive regulation of interleukin-6 secretion
GO:0071639 positive regulation of monocyte chemotactic protein-1 production
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:2000679 positive regulation of transcription regulatory region DNA binding
GO:0032760 positive regulation of tumor necrosis factor production
GO:0030500 regulation of bone mineralization
GO:0006357 regulation of transcription by RNA polymerase II

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR015789 Twist-related

PROSITE

PROSITE ID PROSITE Term
PS50888 BHLH

Pfam

Pfam ID Pfam Term
PF00010 HLH