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Protein

Twist-related protein 1

Gene

TWIST1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Repressor
Biological processBiological rhythms, Differentiation, Myogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-8939902 Regulation of RUNX2 expression and activity
SignaLinkiQ15672
SIGNORiQ15672

Names & Taxonomyi

Protein namesi
Recommended name:
Twist-related protein 1
Alternative name(s):
Class A basic helix-loop-helix protein 38
Short name:
bHLHa38
H-twist
Gene namesi
Name:TWIST1
Synonyms:BHLHA38, TWIST
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000122691.12
HGNCiHGNC:12428 TWIST1
MIMi601622 gene
neXtProtiNX_Q15672

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Saethre-Chotzen syndrome (SCS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
See also OMIM:101400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004495119Q → P in SCS. 1 PublicationCorresponds to variant dbSNP:rs104894057EnsemblClinVar.1
Natural variantiVAR_004496131L → P in SCS. 1 PublicationCorresponds to variant dbSNP:rs121909189EnsemblClinVar.1
Natural variantiVAR_004497135I → IAALRKII in SCS. 1
Natural variantiVAR_004498139P → PKIIPTLP in SCS. 1
Natural variantiVAR_015219156I → V in SCS; variant form with features overlapping Baller-Gerold syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894059EnsemblClinVar.1
Robinow-Sorauf syndrome (RSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:180750
Craniosynostosis 1 (CRS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:123100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034985186A → T in CRS1. 1 PublicationCorresponds to variant dbSNP:rs121909190EnsemblClinVar.1
Natural variantiVAR_034986188S → L in CRS1. 1 PublicationCorresponds to variant dbSNP:rs121909191EnsemblClinVar.1
Sweeney-Cox syndrome (SWCOS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:617746
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080515117E → G in SWCOS. 1 Publication1
Natural variantiVAR_080516117E → V in SWCOS. 1 Publication1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi7291
GeneReviewsiTWIST1
MalaCardsiTWIST1
MIMi101400 phenotype
123100 phenotype
180750 phenotype
617746 phenotype
OpenTargetsiENSG00000122691
Orphaneti35099 Isolated brachycephaly
35093 Isolated scaphocephaly
794 Saethre-Chotzen syndrome
PharmGKBiPA37088

Polymorphism and mutation databases

BioMutaiTWIST1
DMDMi2498009

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001274831 – 202Twist-related protein 1Add BLAST202

Proteomic databases

PaxDbiQ15672
PeptideAtlasiQ15672
PRIDEiQ15672
ProteomicsDBi60700

PTM databases

iPTMnetiQ15672
PhosphoSitePlusiQ15672

Expressioni

Tissue specificityi

Subset of mesodermal cells.

Gene expression databases

BgeeiENSG00000122691 Expressed in 200 organ(s), highest expression level in testis
CleanExiHS_TWIST1
ExpressionAtlasiQ15672 baseline and differential
GenevisibleiQ15672 HS

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Homodimer or heterodimer with E proteins such as TCF3. ID1 binds preferentially to TCF3 but does not interact efficiently with TWIST1 so ID1 levels control the amount of TCF3 available to dimerize with TWIST1 and thus determine the type of dimer formed (By similarity).By similarity

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113142, 42 interactors
DIPiDIP-45974N
IntActiQ15672, 26 interactors
MINTiQ15672
STRINGi9606.ENSP00000242261

Structurei

3D structure databases

ProteinModelPortaliQ15672
SMRiQ15672
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini108 – 159bHLHPROSITE-ProRule annotationAdd BLAST52

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni161 – 191Sufficient for transactivation activityBy similarityAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi80 – 98Gly-richAdd BLAST19

Phylogenomic databases

eggNOGiKOG4447 Eukaryota
ENOG4111QFU LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000261629
InParanoidiQ15672
KOiK09069
OMAiDRQPKRC
OrthoDBiEOG091G07PB
PhylomeDBiQ15672
TreeFamiTF315153

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR015789 Twist-related
PANTHERiPTHR23349:SF64 PTHR23349:SF64, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q15672-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMQDVSSSPV SPADDSLSNS EEEPDRQQPP SGKRGGRKRR SSRRSAGGGA
60 70 80 90 100
GPGGAAGGGV GGGDEPGSPA QGKRGKKSAG CGGGGGAGGG GGSSSGGGSP
110 120 130 140 150
QSYEELQTQR VMANVRERQR TQSLNEAFAA LRKIIPTLPS DKLSKIQTLK
160 170 180 190 200
LAARYIDFLY QVLQSDELDS KMASCSYVAH ERLSYAFSVW RMEGAWSMSA

SH
Length:202
Mass (Da):20,954
Last modified:November 1, 1997 - v1
Checksum:i9394E4351BA1D081
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BY00H7BY00_HUMAN
Twist-related protein 1
TWIST1
135Annotation score:
H7C4D7H7C4D7_HUMAN
Twist-related protein 1
TWIST1
70Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti32G → A in CAA67664 (PubMed:8995765).Curated1
Sequence conflicti36G → A in CAA67664 (PubMed:8995765).Curated1
Sequence conflicti41S → T in CAA62850 (PubMed:9073070).Curated1
Sequence conflicti41S → T in CAA71821 (PubMed:9215678).Curated1
Sequence conflicti45S → T in CAA62850 (PubMed:9073070).Curated1
Sequence conflicti45S → T in CAA71821 (PubMed:9215678).Curated1
Sequence conflicti56Missing in CAA62850 (PubMed:9073070).Curated1
Sequence conflicti56Missing in CAA71821 (PubMed:9215678).Curated1
Sequence conflicti59G → A in CAA67664 (PubMed:8995765).Curated1
Sequence conflicti92G → GGGGG in CAA67664 (PubMed:8995765).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07747083G → S Found in a patient with non-syndromic ventricular septal defect; unknown pathological significance; loss of function in negative regulation of transcription from E-cadherin promoter. 1 PublicationCorresponds to variant dbSNP:rs545987863Ensembl.1
Natural variantiVAR_07747195S → G Rare polymorphism; no effect on negative regulation of transcription from E-cadherin promoter. 1 PublicationCorresponds to variant dbSNP:rs575299986Ensembl.1
Natural variantiVAR_080515117E → G in SWCOS. 1 Publication1
Natural variantiVAR_080516117E → V in SWCOS. 1 Publication1
Natural variantiVAR_004495119Q → P in SCS. 1 PublicationCorresponds to variant dbSNP:rs104894057EnsemblClinVar.1
Natural variantiVAR_004496131L → P in SCS. 1 PublicationCorresponds to variant dbSNP:rs121909189EnsemblClinVar.1
Natural variantiVAR_004497135I → IAALRKII in SCS. 1
Natural variantiVAR_004498139P → PKIIPTLP in SCS. 1
Natural variantiVAR_015219156I → V in SCS; variant form with features overlapping Baller-Gerold syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894059EnsemblClinVar.1
Natural variantiVAR_034985186A → T in CRS1. 1 PublicationCorresponds to variant dbSNP:rs121909190EnsemblClinVar.1
Natural variantiVAR_034986188S → L in CRS1. 1 PublicationCorresponds to variant dbSNP:rs121909191EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X91662 Genomic DNA Translation: CAA62850.1
X99268 mRNA Translation: CAA67664.1
U80998 Genomic DNA Translation: AAC50930.1
Y10871 Genomic DNA Translation: CAA71821.1
AC003986 Genomic DNA Translation: AAC60381.2
CH236948 Genomic DNA Translation: EAL24279.1
BC036704 mRNA Translation: AAH36704.1
CCDSiCCDS5367.1
PIRiG01204
RefSeqiNP_000465.1, NM_000474.3
XP_011513798.1, XM_011515496.1
UniGeneiHs.644998
Hs.66744

Genome annotation databases

EnsembliENST00000242261; ENSP00000242261; ENSG00000122691
GeneIDi7291
KEGGihsa:7291
UCSCiuc003sum.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X91662 Genomic DNA Translation: CAA62850.1
X99268 mRNA Translation: CAA67664.1
U80998 Genomic DNA Translation: AAC50930.1
Y10871 Genomic DNA Translation: CAA71821.1
AC003986 Genomic DNA Translation: AAC60381.2
CH236948 Genomic DNA Translation: EAL24279.1
BC036704 mRNA Translation: AAH36704.1
CCDSiCCDS5367.1
PIRiG01204
RefSeqiNP_000465.1, NM_000474.3
XP_011513798.1, XM_011515496.1
UniGeneiHs.644998
Hs.66744

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MJVNMR-A68-79[»]
ProteinModelPortaliQ15672
SMRiQ15672
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113142, 42 interactors
DIPiDIP-45974N
IntActiQ15672, 26 interactors
MINTiQ15672
STRINGi9606.ENSP00000242261

PTM databases

iPTMnetiQ15672
PhosphoSitePlusiQ15672

Polymorphism and mutation databases

BioMutaiTWIST1
DMDMi2498009

Proteomic databases

PaxDbiQ15672
PeptideAtlasiQ15672
PRIDEiQ15672
ProteomicsDBi60700

Protocols and materials databases

DNASUi7291
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242261; ENSP00000242261; ENSG00000122691
GeneIDi7291
KEGGihsa:7291
UCSCiuc003sum.3 human

Organism-specific databases

CTDi7291
DisGeNETi7291
EuPathDBiHostDB:ENSG00000122691.12
GeneCardsiTWIST1
GeneReviewsiTWIST1
HGNCiHGNC:12428 TWIST1
MalaCardsiTWIST1
MIMi101400 phenotype
123100 phenotype
180750 phenotype
601622 gene
617746 phenotype
neXtProtiNX_Q15672
OpenTargetsiENSG00000122691
Orphaneti35099 Isolated brachycephaly
35093 Isolated scaphocephaly
794 Saethre-Chotzen syndrome
PharmGKBiPA37088
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4447 Eukaryota
ENOG4111QFU LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000261629
InParanoidiQ15672
KOiK09069
OMAiDRQPKRC
OrthoDBiEOG091G07PB
PhylomeDBiQ15672
TreeFamiTF315153

Enzyme and pathway databases

ReactomeiR-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-8939902 Regulation of RUNX2 expression and activity
SignaLinkiQ15672
SIGNORiQ15672

Miscellaneous databases

ChiTaRSiTWIST1 human
GeneWikiiTwist_transcription_factor
GenomeRNAii7291
PROiPR:Q15672
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122691 Expressed in 200 organ(s), highest expression level in testis
CleanExiHS_TWIST1
ExpressionAtlasiQ15672 baseline and differential
GenevisibleiQ15672 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR015789 Twist-related
PANTHERiPTHR23349:SF64 PTHR23349:SF64, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTWST1_HUMAN
AccessioniPrimary (citable) accession number: Q15672
Secondary accession number(s): A4D128, Q92487, Q99804
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: September 12, 2018
This is version 192 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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