Q15672

※ Protein Information

Tag	Content
UniProt Accession	TWST1_HUMAN; Q15672;
Entrez ID	7291
GenBank Protein ID	NM_000474.3; XM_011515496.1;
GenBank Nucleotide ID	NP_000465.1; XP_011513798.1;
Protein Name	Twist-related protein 1 (Class A basic helix-loop-helix protein 38) (bHLHa38) (H-twist)
Gene Name	TWIST1; BHLHA38; TWIST
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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 proinflammatory 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-ARNTL/BMAL1 heterodimer (By similarity). Functional Description 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 proinflammatory 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-ARNTL/BMAL1 heterodimer (By similarity).
Sequence (Fasta)	MMQDVSSSPV SPADDSLSNS EEEPDRQQPP SGKRGGRKRR SSRRSAGGGA GPGGAAGGGV 60 GGGDEPGSPA QGKRGKKSAG CGGGGGAGGG GGSSSGGGSP QSYEELQTQR VMANVRERQR 120 TQSLNEAFAA LRKIIPTLPS DKLSKIQTLK LAARYIDFLY QVLQSDELDS KMASCSYVAH 180 ERLSYAFSVW RMEGAWSMSA SH 203 Fasta Sequence >Q15672\|TWIST1; BHLHA38; TWIST\|Homo sapiens (Human) MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGVGGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Breast cancer/tumor/carcinoma	MCF-10A cell	P	S	21502402
1	[Reference]: Phosphorylation of serine 68 of Twist1 by MAPKs stabilizes Twist1 protein and promotes breast cancer cell invasiveness
2	Serine Phosphorylation	Breast cancer/tumor/carcinoma		U	S68	21502402
2	[Reference]: Phosphorylation of serine 68 of Twist1 by MAPKs stabilizes Twist1 protein and promotes breast cancer cell invasiveness.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 8) (view all)	MESH:D000168 ; Acrocephalosyndactylia MESH:D003398 ; Craniosynostoses MESH:D017728 ; Lymphoma, Large-Cell, Anaplastic MESH:D009361 ; Neoplasm Invasiveness MESH:D009362 ; Neoplasm Metastasis MESH:C537183 ; Robinow Sorauf syndrome MESH:C566325 ; Saethre-Chotzen Syndrome with Eyelid Anomalies MESH:D013274 ; Stomach Neoplasms
HGMD (count: 135) (view all)	CE084958; Saethre-Chotzen syndrome ?; Repeat variations CP060740; Saethre-Chotzen syndrome; Complex rearrangements CP984563; Saethre-Chotzen syndrome; Complex rearrangements CP035474; Saethre-Chotzen syndrome; Complex rearrangements CP942291; Saethre-Chotzen syndrome; Complex rearrangements CP082456; Saethre-Chotzen syndrome; Complex rearrangements CP973621; Saethre-Chotzen syndrome; Complex rearrangements CP077729; Craniosynostosis; Complex rearrangements CP984564; Saethre-Chotzen syndrome; Complex rearrangements CD060133; Saethre-Chotzen syndrome; Small deletions CD064661; Craniosynostosis; Small deletions CD021217; Saethre-Chotzen syndrome; Small deletions CD064662; Craniosynostosis; Small deletions CD033558; Saethre-Chotzen syndrome; Small deletions CD033559; Saethre-Chotzen syndrome; Small deletions CD093124; Saethre-Chotzen syndrome; Small deletions CD992485; Saethre-Chotzen syndrome; Small deletions CD000240; Saethre-Chotzen syndrome; Small deletions CD043908; Synostotic frontal plagiocephaly; Small deletions CD982422; Saethre-Chotzen syndrome; Small deletions CD992486; Saethre-Chotzen syndrome; Small deletions CD057040; Saethre-Chotzen syndrome; Small deletions CD013662; Saethre-Chotzen syndrome; Small deletions CD013340; Saethre-Chotzen syndrome; Small deletions CD013661; Saethre-Chotzen syndrome; Small deletions CD060134; Saethre-Chotzen syndrome; Small deletions CD992484; Saethre-Chotzen syndrome; Small deletions CD060135; Saethre-Chotzen syndrome; Small deletions CD033560; Saethre-Chotzen syndrome; Small deletions CG973555; Saethre-Chotzen syndrome; Gross deletions CG035352; Saethre-Chotzen syndrome; Gross deletions CG035351; Saethre-Chotzen syndrome; Gross deletions CG035353; Saethre-Chotzen syndrome; Gross deletions CG035354; Saethre-Chotzen syndrome; Gross deletions CG035355; Saethre-Chotzen syndrome; Gross deletions CG035356; Saethre-Chotzen syndrome; Gross deletions CG984482; Saethre-Chotzen syndrome; Gross deletions CN995070; Saethre-Chotzen syndrome; Gross insertions CN005245; Saethre-Chotzen syndrome; Gross insertions CN057061; Saethre-Chotzen syndrome; Gross insertions CN064832; Craniosynostosis; Gross insertions CN064833; Craniosynostosis; Gross insertions CN973573; Saethre-Chotzen syndrome; Gross insertions CN973574; Saethre-Chotzen syndrome; Gross insertions CN973575; Saethre-Chotzen syndrome; Gross insertions CN973576; Saethre-Chotzen syndrome; Gross insertions CN973577; Saethre-Chotzen syndrome; Gross insertions CX093125; Saethre-Chotzen syndrome; Small indels CP973620; Saethre-Chotzen syndrome; Small indels CX013686; Saethre-Chotzen syndrome; Small indels CX060728; Saethre-Chotzen syndrome; Small indels CI093126; Saethre-Chotzen syndrome; Small insertions CI983020; Saethre-Chotzen syndrome; Small insertions CI064745; Craniosynostosis ?; Small insertions CI991950; Robinow-Sorauf syndrome; Small insertions CI013679; Saethre-Chotzen syndrome; Small insertions CI000280; Saethre-Chotzen syndrome; Small insertions CI972519; Saethre-Chotzen syndrome; Small insertions CI064746; Craniosynostosis; Small insertions CM013606; Saethre-Chotzen syndrome; Missense/nonsense CM060094; Saethre-Chotzen syndrome; Missense/nonsense CM000116; Saethre-Chotzen syndrome; Missense/nonsense CM013607; Saethre-Chotzen syndrome; Missense/nonsense CM052010; Saethre-Chotzen syndrome; Missense/nonsense CM970028; Saethre-Chotzen syndrome; Missense/nonsense CM970029; Saethre-Chotzen syndrome; Missense/nonsense CM031389; Saethre-Chotzen syndrome; Missense/nonsense CM992298; Saethre-Chotzen syndrome; Missense/nonsense CM970030; Saethre-Chotzen syndrome; Missense/nonsense CM980015; Saethre-Chotzen syndrome; Missense/nonsense CM980016; Saethre-Chotzen syndrome; Missense/nonsense CM093123; Saethre-Chotzen syndrome; Missense/nonsense CM020323; Saethre-Chotzen syndrome; Missense/nonsense CM076577; Brachicephaly ?; Missense/nonsense CM056998; Saethre-Chotzen syndrome; Missense/nonsense CM076580; Saethre-Chotzen syndrome ?; Missense/nonsense CM057003; Saethre-Chotzen syndrome; Missense/nonsense CM980017; Saethre-Chotzen syndrome; Missense/nonsense CM970031; Saethre-Chotzen syndrome; Missense/nonsense CM060095; Saethre-Chotzen syndrome; Missense/nonsense CM076579; Brachicephaly ?; Missense/nonsense CM020324; Saethre-Chotzen syndrome; Missense/nonsense CM970032; Saethre-Chotzen syndrome; Missense/nonsense CM060093; Saethre-Chotzen syndrome; Missense/nonsense CM000117; Saethre-Chotzen syndrome; Missense/nonsense CM057002; Saethre-Chotzen syndrome; Missense/nonsense CM064348; Craniosynostosis; Missense/nonsense CM980018; Saethre-Chotzen syndrome; Missense/nonsense CM970033; Saethre-Chotzen syndrome; Missense/nonsense CM980019; Saethre-Chotzen syndrome; Missense/nonsense CM970034; Saethre-Chotzen syndrome; Missense/nonsense CM060097; Saethre-Chotzen syndrome; Missense/nonsense CM000118; Saethre-Chotzen syndrome; Missense/nonsense CM065505; Saethre-Chotzen syndrome; Missense/nonsense CM970035; Saethre-Chotzen syndrome; Missense/nonsense CM980020; Saethre-Chotzen syndrome; Missense/nonsense CM093122; Saethre-Chotzen syndrome; Missense/nonsense CM970036; Saethre-Chotzen syndrome; Missense/nonsense CM056999; Saethre-Chotzen syndrome; Missense/nonsense CM980021; Saethre-Chotzen syndrome; Missense/nonsense CM057000; Saethre-Chotzen syndrome; Missense/nonsense CM060092; Saethre-Chotzen syndrome; Missense/nonsense CM013608; Saethre-Chotzen syndrome; Missense/nonsense CM021157; Saethre-Chotzen syndrome; Missense/nonsense CM980022; Saethre-Chotzen syndrome; Missense/nonsense CM970037; Saethre-Chotzen syndrome; Missense/nonsense CM093121; Saethre-Chotzen syndrome; Missense/nonsense CM980023; Saethre-Chotzen syndrome; Missense/nonsense CM992299; Saethre-Chotzen syndrome; Missense/nonsense CM970038; Saethre-Chotzen syndrome; Missense/nonsense CM980024; Saethre-Chotzen syndrome; Missense/nonsense CM980025; Saethre-Chotzen syndrome; Missense/nonsense CM060090; Saethre-Chotzen syndrome; Missense/nonsense CM060091; Saethre-Chotzen syndrome; Missense/nonsense CM000119; Saethre-Chotzen syndrome; Missense/nonsense CM980026; Saethre-Chotzen syndrome; Missense/nonsense CM980027; Saethre-Chotzen syndrome; Missense/nonsense CM013609; Saethre-Chotzen syndrome; Missense/nonsense CM076578; Plagiocephaly ?; Missense/nonsense CM970039; Saethre-Chotzen syndrome; Missense/nonsense CM013610; Saethre-Chotzen syndrome; Missense/nonsense CM013611; Baller-Gerold syndrome; Missense/nonsense CM057001; Saethre-Chotzen syndrome; Missense/nonsense CM060096; Saethre-Chotzen syndrome; Missense/nonsense CM013612; Saethre-Chotzen syndrome; Missense/nonsense CM980028; Saethre-Chotzen syndrome; Missense/nonsense CM000120; Saethre-Chotzen syndrome; Missense/nonsense CM980029; Saethre-Chotzen syndrome; Missense/nonsense CM000121; Saethre-Chotzen syndrome; Missense/nonsense CM990110; Baller-Gerold syndrome; Missense/nonsense CM072097; Craniosynostosis; Missense/nonsense CM060098; Saethre-Chotzen syndrome; Missense/nonsense CM072098; Craniosynostosis; Missense/nonsense CM065506; Saethre-Chotzen syndrome; Missense/nonsense CM067071; Craniosynostosis; Missense/nonsense

Database

Annotation

CTD (Curated)
(count: 8)
(view all)

MESH:D000168 ; Acrocephalosyndactylia
MESH:D003398 ; Craniosynostoses
MESH:D017728 ; Lymphoma, Large-Cell, Anaplastic
MESH:D009361 ; Neoplasm Invasiveness
MESH:D009362 ; Neoplasm Metastasis
MESH:C537183 ; Robinow Sorauf syndrome

HGMD
(count: 135)
(view all)

CE084958; Saethre-Chotzen syndrome ?; Repeat variations
CP060740; Saethre-Chotzen syndrome; Complex rearrangements
CP984563; Saethre-Chotzen syndrome; Complex rearrangements
CP035474; Saethre-Chotzen syndrome; Complex rearrangements
CP942291; Saethre-Chotzen syndrome; Complex rearrangements
CP082456; Saethre-Chotzen syndrome; Complex rearrangements

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 9) (view all)	102 SGGGSPQSYEELQTQ dbPAF 103 GGGSPQSYEELQTQR dbPAF 123 RERQRTQSLNEAFAA dbPAF 137 ALRKIIPTLPSDKLS dbPAF 144 TLPSDKLSKIQTLKL dbPAF 18 SPADDSLSNSEEEPD dbPAF 20 ADDSLSNSEEEPDRQ dbPAF 42 GGRKRRSSRRSAGGG dbPAF 68 GGGDEPGSPAQGKRG dbPAF
Ubiquitination (count: 1)	73 PGSPAQGKRGKKSAG PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

P04637	Q15672	IntAct
P10071	Q15672	HPRD
P15036	Q15672	IntAct
P15172	Q15672	HPRD
P15923	Q15672	HPRD
P20719	Q15672	HPRD
Q04206	Q15672	HPRD
Q09472	Q15672	HPRD
Q15672	Q15672	HPRD
Q15672	Q92831	HPRD; IntAct
Q15672	Q9Y3P9	IntAct

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction