TWIST1
entrez
7291
canonical
uniprot
Q15672
canonical
ensembl
ENSG00000122691
resolver
ensp
ENSP00000242261
resolver
enst
ENST00000242261
resolver
genesymbol
TWIST1
resolver
genesymbol_syn
BHLHA38
resolver
genesymbol_syn
TWIST
resolver
hgnc
HGNC:12428
resolver
uniprot
A4D128
resolver
uniprot
Q92487
resolver
uniprot
Q99804
resolver
uniprot_entry
TWST1_HUMAN
resolver
uniprot_sec
A4D128
resolver
uniprot_sec
Q92487
resolver
uniprot_sec
Q99804
resolver
amino_acid_sequence
MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGVGGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: Sweeney-Cox syndrome (SWCOS) [MIM:617746]: An autosomal dominant syndrome characterized by facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears. {ECO:0000269|PubMed:28369379}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 pro-inflammatory 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-BMAL1 heterodimer (By similarity). {ECO:0000250|UniProtKB:P26687, ECO:0000269|PubMed:12553906, ECO:0000269|PubMed:25981568}.
uniprot
proteins
mass_dalton
20954
uniprot
proteins
pubmed
10465122
uniprot
proteins
pubmed
11754069
uniprot
proteins
pubmed
12553906
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17343269
uniprot
proteins
pubmed
25981568
uniprot
proteins
pubmed
28369379
uniprot
proteins
pubmed
8988166
uniprot
proteins
pubmed
8988167
uniprot
proteins
pubmed
8995765
uniprot
proteins
pubmed
9073070
uniprot
proteins
pubmed
9215678
uniprot
proteins
sequence_length
202
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins