Skip Header

 
Contribute Send feedback

Reviewed, UniProtKB/Swiss-Prot Q15672 (TWST1_HUMAN)

Last modified November 25, 2008. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Twist-related protein 1
Alternative name(s):
    H-twist
Gene names
Name: TWIST1
Synonyms: TWIST
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length202 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Probable transcription factor, which seems to be involved in the negative regulation of cellular determination and in the differentiation of several lineages including myogenesis, osteogenesis, and neurogenesis. 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 By similarity. Also represses expression of proinflammatory cytokines such as TNFA and IL1B.

Subunit structure

Efficient DNA binding requires dimerization with another bHLH protein. Homodimer By similarity.

Subcellular location

Nucleus.

Tissue specificity

Subset of mesodermal cells.

Involvement in disease

Defects in TWIST1 are a cause of Saethre-Chotzen syndrome (SCS) [MIM:101400]; also known as acrocephalosyndactyly type 3 (ACS3). SCS is a craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.

Defects in TWIST1 are the cause of Robinow-Sorauf syndrome (RSS) [MIM:180750]; also known as craniosynostosis-bifid hallux syndrome. RSS is an autosomal dominant defect characterized by minor skull and limb anomalies which is very similar to Saethre-Chotzen syndrome.

Defects in TWIST1 are the cause of craniosynostosis type 1 (CRS1) [MIM:123100]. Craniosynostosis consists of premature fusion of one or more cranial sutures, resulting in an abnormal head shape.

Sequence similarities

Contains 1 basic helix-loop-helix (bHLH) domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ETS2P150362EBI-1797287,EBI-1646991

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 202202Twist-related protein 1
PRO_0000127483

Regions

Domain121 – 16040Helix-loop-helix motif
DNA binding108 – 12013Basic motif
Compositional bias80 – 9819Gly-rich

Natural variations

Natural variant311S → G: dbSNP rs1800126.
VAR_014821
Natural variant841G → S: dbSNP rs2234705.
VAR_014822
Natural variant1191Q → P in SCS.
VAR_004495
Natural variant1311L → P in SCS.
VAR_004496
Natural variant1351I → IAALRKII in SCS.
VAR_004497
Natural variant1391P → PKIIPTLP in SCS.
VAR_004498
Natural variant1561I → V in SCS; variant form with features overlapping Baller-Gerold syndrome.
VAR_015219
Natural variant1861A → T in CRS1.
VAR_034985
Natural variant1881S → L in CRS1.
VAR_034986

Experimental info

Sequence conflict321G → A in CAA67664. Ref.2
Sequence conflict361G → A in CAA67664. Ref.2
Sequence conflict411S → T Ref.1 Ref.4
Sequence conflict451S → T Ref.1 Ref.4
Sequence conflict561Missing Ref.1 Ref.4
Sequence conflict591G → A in CAA67664. Ref.2
Sequence conflict921G → GGGGG Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q15672-1 [UniParc].

Last modified November 1, 1997. Version 1.
Checksum: 9394E4351BA1D081

FASTA20220,954
        10         20         30         40         50         60 
MMQDVSSSPV SPADDSLSNS EEEPDRQQPP SGKRGGRKRR SSRRSAGGGA GPGGAAGGGV 

        70         80         90        100        110        120 
GGGDEPGSPA QGKRGKKSAG CGGGGGAGGG GGSSSGGGSP QSYEELQTQR VMANVRERQR 

       130        140        150        160        170        180 
TQSLNEAFAA LRKIIPTLPS DKLSKIQTLK LAARYIDFLY QVLQSDELDS KMASCSYVAH 

       190        200 
ERLSYAFSVW RMEGAWSMSA SH 

« Hide

References

« Hide 'large scale' references
[1]"Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues."
Wang S.M., Coljee V.W., Pignolo R.J., Rotenberg M.O., Cristofalo V.J., Sierra F.
Gene 187:83-92(1997) [PubMed: 9073070] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Lung.
[2]"The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart."
Bourgeois P., Stoetzel C., Bolcato-Bellemin A.-L., Mattei M.-G., Perrin-Schmitt F.
Mamm. Genome 7:915-917(1996) [PubMed: 8995765] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Placenta.
[3]"Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome."
Howard T.D., Paznekas W.A., Green E.D., Chiang L.C., Ma N., Ortiz de Luna R.I., Delgado C.G., Gonzalez-Ramos M., Kline A.D., Jabs E.W.
Nat. Genet. 15:36-41(1997) [PubMed: 8988166] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SCS PRO-119; ALA-ALA-LEU-ARG-LYS-ILE-ILE-135 INS AND LYS-ILE-ILE-PRO-THR-LEU-PRO-139 INS.
[4]"Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome."
Krebs I., Weis I., Hudler M., Rommens J.M., Roth H., Scherer S.W., Tsui L.-C., Fuchtbauer E.-M., Grzeschik K.-H., Tsuji K., Kunz J.
Hum. Mol. Genet. 6:1079-1086(1997) [PubMed: 9215678] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed: 12853948] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[7]"Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity."
Sosic D., Richardson J.A., Yu K., Ornitz D.M., Olson E.N.
Cell 112:169-180(2003) [PubMed: 12553906] [Abstract]
Cited for: FUNCTION.
[8]"Mutations of the TWIST gene in the Saethre-Chotzen syndrome."
el Ghouzzi V., le Merrer M., Perrin-Schmitt F., Lajeunie E., Benit P., Renier D., Bourgeois P., Bolcato-Bellemin A.-L., Munnich A., Bonaventure J.
Nat. Genet. 15:42-46(1997) [PubMed: 8988167] [Abstract]
Cited for: VARIANTS SCS PRO-131 AND LYS-ILE-ILE-PRO-THR-LEU-PRO-139 INS.
[9]"Another TWIST on Baller-Gerold syndrome."
Seto M.L., Lee S.J., Sze R.W., Cunningham M.L.
Am. J. Med. Genet. 104:323-330(2001) [PubMed: 11754069] [Abstract]
Cited for: VARIANT SCS VAL-156.
[10]"Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations."
Seto M.L., Hing A.V., Chang J., Hu M., Kapp-Simon K.A., Patel P.K., Burton B.K., Kane A.A., Smyth M.D., Hopper R., Ellenbogen R.G., Stevenson K., Speltz M.L., Cunningham M.L.
Am. J. Med. Genet. A 143:678-686(2007) [PubMed: 17343269] [Abstract]
Cited for: VARIANTS CRS1 THR-186 AND LEU-188.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

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.
BC036704 mRNA. Translation: AAH36704.1.
PIRG01204.
RefSeqNP_000465.1.
UniGeneHs.644998
Hs.66744

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActQ15672.

Genome annotation databases

EnsemblENSG00000122691. Homo sapiens. [Contig view]
GeneID7291.
KEGGhsa:7291.

Organism-specific databases

H-InvDBHIX0025484.
HGNCHGNC:12428. TWIST1.
MIM101400. phenotype.
123100. phenotype.
180750. phenotype.
601622. gene.
Orphanet1531. Craniosynostosis.
3106. Robinow-Sorauf syndrome.
794. Saethre-Chotzen syndrome.
PharmGKBPA37088.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ15672.
HOVERGENQ15672.

Gene expression databases

ArrayExpressQ15672.
CleanExHS_TWIST1.
GermOnlineENSG00000122691. Homo sapiens.

Family and domain databases

InterProIPR001092. HLH_basic.
IPR011598. HLH_DNA_bd.
IPR015789. Twist.
[Graphical view]
Gene3DG3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
PANTHERPTHR23349:SF6. Twist. 1 hit.
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
PROSITEPS50888. HLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio28507.
SOURCESearch...

Entry information

Entry nameTWST1_HUMAN
AccessionPrimary (citable) accession number: Q15672
Secondary accession number(s): Q92487, Q99804
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 25, 2008
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents