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2024-05-08 12:30:13, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000474 1669 bp mRNA linear PRI 01-JUL-2013
DEFINITION Homo sapiens twist basic helix-loop-helix transcription factor 1
(TWIST1), mRNA.
ACCESSION NM_000474
VERSION NM_000474.3 GI:68160957
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1669)
AUTHORS Sharma,V.P., Fenwick,A.L., Brockop,M.S., McGowan,S.J., Goos,J.A.,
Hoogeboom,A.J., Brady,A.F., Jeelani,N.O., Lynch,S.A.,
Mulliken,J.B., Murray,D.J., Phipps,J.M., Sweeney,E., Tomkins,S.E.,
Wilson,L.C., Bennett,S., Cornall,R.J., Broxholme,J., Kanapin,A.,
Johnson,D., Wall,S.A., van der Spek,P.J., Mathijssen,I.M.,
Maxson,R.E., Twigg,S.R. and Wilkie,A.O.
CONSRTM 500 Whole-Genome Sequences (WGS500) Consortium
TITLE Mutations in TCF12, encoding a basic helix-loop-helix partner of
TWIST1, are a frequent cause of coronal craniosynostosis
JOURNAL Nat. Genet. 45 (3), 304-307 (2013)
PUBMED 23354436
REMARK GeneRIF: Hence, the dosage of TCF12-TWIST1 heterodimers is critical
for normal coronal suture development
REFERENCE 2 (bases 1 to 1669)
AUTHORS Michel,L., Jean-Louis,F., Begue,E., Bensussan,A. and Bagot,M.
TITLE Use of PLS3, Twist, CD158k/KIR3DL2, and NKp46 gene expression
combination for reliable Sezary syndrome diagnosis
JOURNAL Blood 121 (8), 1477-1478 (2013)
PUBMED 23429988
REMARK GeneRIF: PLS2, Twist KIR3DL2 and NKp46 gene expression can model
efficient molecular Sezary syndrome diagnosis.
REFERENCE 3 (bases 1 to 1669)
AUTHORS Low-Marchelli,J.M., Ardi,V.C., Vizcarra,E.A., van Rooijen,N.,
Quigley,J.P. and Yang,J.
TITLE Twist1 induces CCL2 and recruits macrophages to promote
angiogenesis
JOURNAL Cancer Res. 73 (2), 662-671 (2013)
PUBMED 23329645
REMARK GeneRIF: our findings show that how Twist1 recruits stromal
macrophages through CCL2 induction to promote angiogenesis and
tumor progression.
REFERENCE 4 (bases 1 to 1669)
AUTHORS Tang,X., Xing,J., Li,W., Wu,Z., Zhang,K. and Zheng,J.
TITLE Expression of transcription factor Twist1 in bladder urothelial
carcinoma and its clinical significance
JOURNAL J BUON 18 (1), 211-219 (2013)
PUBMED 23613408
REMARK GeneRIF: Twist1 gene may play a role as an oncogene during the
tumorigenesis and development in bladder urothelial carcinoma.
REFERENCE 5 (bases 1 to 1669)
AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
Gibbs,R.A. and Butte,N.F.
TITLE Novel genetic loci identified for the pathophysiology of childhood
obesity in the Hispanic population
JOURNAL PLoS ONE 7 (12), E51954 (2012)
PUBMED 23251661
REFERENCE 6 (bases 1 to 1669)
AUTHORS 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. and Kunz,J.
TITLE Translocation breakpoint maps 5 kb 3' from TWIST in a patient
affected with Saethre-Chotzen syndrome
JOURNAL Hum. Mol. Genet. 6 (7), 1079-1086 (1997)
PUBMED 9215678
REFERENCE 7 (bases 1 to 1669)
AUTHORS Wang,S.M., Coljee,V.W., Pignolo,R.J., Rotenberg,M.O.,
Cristofalo,V.J. and Sierra,F.
TITLE Cloning of the human twist gene: its expression is retained in
adult mesodermally-derived tissues
JOURNAL Gene 187 (1), 83-92 (1997)
PUBMED 9073070
REFERENCE 8 (bases 1 to 1669)
AUTHORS el Ghouzzi,V., Le Merrer,M., Perrin-Schmitt,F., Lajeunie,E.,
Benit,P., Renier,D., Bourgeois,P., Bolcato-Bellemin,A.L.,
Munnich,A. and Bonaventure,J.
TITLE Mutations of the TWIST gene in the Saethre-Chotzen syndrome
JOURNAL Nat. Genet. 15 (1), 42-46 (1997)
PUBMED 8988167
REFERENCE 9 (bases 1 to 1669)
AUTHORS Howard,T.D., Paznekas,W.A., Green,E.D., Chiang,L.C., Ma,N., Ortiz
de Luna,R.I., Garcia Delgado,C., Gonzalez-Ramos,M., Kline,A.D. and
Jabs,E.W.
TITLE Mutations in TWIST, a basic helix-loop-helix transcription factor,
in Saethre-Chotzen syndrome
JOURNAL Nat. Genet. 15 (1), 36-41 (1997)
PUBMED 8988166
REFERENCE 10 (bases 1 to 1669)
AUTHORS Bourgeois,P., Stoetzel,C., Bolcato-Bellemin,A.L., Mattei,M.G. and
Perrin-Schmitt,F.
TITLE 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
JOURNAL Mamm. Genome 7 (12), 915-917 (1996)
PUBMED 8995765
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC036704.2 and AW173505.1.
This sequence is a reference standard in the RefSeqGene project.
On Jun 23, 2005 this sequence version replaced gi:17978464.
Summary: Basic helix-loop-helix (bHLH) transcription factors have
been implicated in cell lineage determination and differentiation.
The protein encoded by this gene is a bHLH transcription factor and
shares similarity with another bHLH transcription factor, Dermo1.
The strongest expression of this mRNA is in placental tissue; in
adults, mesodermally derived tissues express this mRNA
preferentially. Mutations in this gene have been found in patients
with Saethre-Chotzen syndrome. [provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC036704.2, AL514480.3 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1271 BC036704.2 1-1271
1272-1669 AW173505.1 14-411 c
FEATURES Location/Qualifiers
source 1..1669
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7p21.2"
gene 1..1669
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/note="twist basic helix-loop-helix transcription factor
1"
/db_xref="GeneID:7291"
/db_xref="HGNC:12428"
/db_xref="HPRD:03374"
/db_xref="MIM:601622"
exon 1..1002
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/inference="alignment:Splign:1.39.8"
misc_feature 7..9
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/note="upstream in-frame stop codon"
variation 211
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/replace="c"
/replace="t"
/db_xref="dbSNP:4647961"
CDS 352..960
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/note="twist homolog 1; H-twist; TWIST homolog of
drosophila; B-HLH DNA binding protein; class A basic
helix-loop-helix protein 38"
/codon_start=1
/product="twist-related protein 1"
/protein_id="NP_000465.1"
/db_xref="GI:4507741"
/db_xref="CCDS:CCDS5367.1"
/db_xref="GeneID:7291"
/db_xref="HGNC:12428"
/db_xref="HPRD:03374"
/db_xref="MIM:601622"
/translation="
MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGVGGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH
"
misc_feature 676..843
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/note="Helix-loop-helix domain, found in specific DNA-
binding proteins that act as transcription factors; 60-100
amino acids long. A DNA-binding basic region is followed
by two alpha-helices separated by a variable loop region;
HLH forms homo- and heterodimers; Region: HLH; cd00083"
/db_xref="CDD:28964"
misc_feature order(676..681,697..705,709..711,775..777,784..786)
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/note="DNA binding region [nucleotide binding]"
/db_xref="CDD:28964"
misc_feature 700..702
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/note="E-box/N-box specificity site; other site"
/db_xref="CDD:28964"
misc_feature order(718..723,730..735,739..744,787..789,796..798,
808..810,814..819,829..831,835..840)
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/note="dimerization interface [polypeptide binding]; other
site"
/db_xref="CDD:28964"
misc_feature 832..924
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q15672.1);
Region: Sufficient for transactivation activity (By
similarity)"
variation 442
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800126"
variation 882
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/replace="c"
/replace="t"
/db_xref="dbSNP:201837657"
STS 896..1357
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/standard_name="MARC_39127-39128:1075469460:1"
/db_xref="UniSTS:467355"
exon 1003..1666
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/inference="alignment:Splign:1.39.8"
STS 1041..1228
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/standard_name="M63649"
/db_xref="UniSTS:124970"
variation 1253
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
/replace="g"
/replace="t"
/db_xref="dbSNP:201649810"
polyA_signal 1639..1644
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
polyA_signal 1643..1648
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
polyA_site 1666
/gene="TWIST1"
/gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS1; SCS;
TWIST"
ORIGIN
gaggtataagagcctccaagtctgcagctctcgcccaactcccagacacctcgcgggctctgcagcaccggcaccgtttccaggaggcctggcggggtgtgcgtccagccgttgggcgctttctttttggacctcggggccatccacaccgtcccctccccctcccgcctccctccccgcctcccccgcgcgccctccccgcggaggtccctcccgtccgtcctcctgctctctcctccgcgggccgcatcgcccgggccggcgccgcgcgcgggggaagctggcgggctgaggcgccccgctcttctcctctgccccgggcccgcgaggccacgcgtcgccgctcgagagatgatgcaggacgtgtccagctcgccagtctcgccggccgacgacagcctgagcaacagcgaggaagagccagaccggcagcagccgccgagcggcaagcgcgggggacgcaagcggcgcagcagcaggcgcagcgcgggcggcggcgcggggcccggcggagccgcgggtgggggcgtcggaggcggcgacgagccgggcagcccggcccagggcaagcgcggcaagaagtctgcgggctgtggcggcggcggcggcgcgggcggcggcggcggcagcagcagcggcggcgggagtccgcagtcttacgaggagctgcagacgcagcgggtcatggccaacgtgcgggagcgccagcgcacccagtcgctgaacgaggcgttcgccgcgctgcggaagatcatccccacgctgccctcggacaagctgagcaagattcagaccctcaagctggcggccaggtacatcgacttcctctaccaggtcctccagagcgacgagctggactccaagatggcaagctgcagctatgtggctcacgagcggctcagctacgccttctcggtctggaggatggagggggcctggtccatgtccgcgtcccactagcaggcggagccccccaccccctcagcagggccggagacctagatgtcattgtttccagagaaggagaaaatggacagtctagagactctggagctggataactaaaaataaaaatatatgccaaagattttcttggaaattagaagagcaaaatccaaattcaaagaaacagggcgtggggcgcacttttaaaagagaaagcgagacaggcccgtggacagtgattcccagacgggcagcggcaccatcctcacacctctgcattctgatagaagtctgaacagttgtttgtgttttttttttttttttttttgacgaagaatgtttttatttttatttttttcatgcatgcattctcaagaggtcgtgccaatcagccactgaaaggaaaggcatcactatggactttctctattttaaaatggtaacaatcagaggaactataagaacacctttagaaataaaaatactgggatcaaactggcctgcaaaaccatagtcagttaattctttttttcatccttcctctgaggggaaaaacaaaaaaaaacttaaaatacaaaaaacaacattctatttatttattgaggacccatggtaaaatgcaaatagatccggtgtctaaatgcattcatatttttatgattgttttgtaaatatctttgtatatttttctgcaataaataaatataaaaaatttagagaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:7291 -> Molecular function: GO:0000981 [sequence-specific DNA binding RNA polymerase II transcription factor activity] evidence: IDA
GeneID:7291 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:7291 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IPI
GeneID:7291 -> Molecular function: GO:0019904 [protein domain specific binding] evidence: IEA
GeneID:7291 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IEA
GeneID:7291 -> Molecular function: GO:0043425 [bHLH transcription factor binding] evidence: IPI
GeneID:7291 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
GeneID:7291 -> Molecular function: GO:0070888 [E-box binding] evidence: IDA
GeneID:7291 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IMP
GeneID:7291 -> Biological process: GO:0001503 [ossification] evidence: TAS
GeneID:7291 -> Biological process: GO:0001649 [osteoblast differentiation] evidence: IEA
GeneID:7291 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
GeneID:7291 -> Biological process: GO:0001764 [neuron migration] evidence: IEA
GeneID:7291 -> Biological process: GO:0001843 [neural tube closure] evidence: IEA
GeneID:7291 -> Biological process: GO:0003180 [aortic valve morphogenesis] evidence: IMP
GeneID:7291 -> Biological process: GO:0003183 [mitral valve morphogenesis] evidence: IEA
GeneID:7291 -> Biological process: GO:0003203 [endocardial cushion morphogenesis] evidence: IEA
GeneID:7291 -> Biological process: GO:0003253 [cardiac neural crest cell migration involved in outflow tract morphogenesis] evidence: IEA
GeneID:7291 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: IDA
GeneID:7291 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:7291 -> Biological process: GO:0007517 [muscle organ development] evidence: IEA
GeneID:7291 -> Biological process: GO:0010628 [positive regulation of gene expression] evidence: IMP
GeneID:7291 -> Biological process: GO:0010718 [positive regulation of epithelial to mesenchymal transition] evidence: IMP
GeneID:7291 -> Biological process: GO:0014067 [negative regulation of phosphatidylinositol 3-kinase cascade] evidence: IMP
GeneID:7291 -> Biological process: GO:0030500 [regulation of bone mineralization] evidence: IMP
GeneID:7291 -> Biological process: GO:0032000 [positive regulation of fatty acid beta-oxidation] evidence: IMP
GeneID:7291 -> Biological process: GO:0032720 [negative regulation of tumor necrosis factor production] evidence: IEA
GeneID:7291 -> Biological process: GO:0032760 [positive regulation of tumor necrosis factor production] evidence: IMP
GeneID:7291 -> Biological process: GO:0033128 [negative regulation of histone phosphorylation] evidence: IMP
GeneID:7291 -> Biological process: GO:0035067 [negative regulation of histone acetylation] evidence: IEA
GeneID:7291 -> Biological process: GO:0035115 [embryonic forelimb morphogenesis] evidence: IEA
GeneID:7291 -> Biological process: GO:0035116 [embryonic hindlimb morphogenesis] evidence: IEA
GeneID:7291 -> Biological process: GO:0035359 [negative regulation of peroxisome proliferator activated receptor signaling pathway] evidence: IEA
GeneID:7291 -> Biological process: GO:0042473 [outer ear morphogenesis] evidence: TAS
GeneID:7291 -> Biological process: GO:0042733 [embryonic digit morphogenesis] evidence: TAS
GeneID:7291 -> Biological process: GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:7291 -> Biological process: GO:0043518 [negative regulation of DNA damage response, signal transduction by p53 class mediator] evidence: IMP
GeneID:7291 -> Biological process: GO:0045668 [negative regulation of osteoblast differentiation] evidence: IMP
GeneID:7291 -> Biological process: GO:0045766 [positive regulation of angiogenesis] evidence: NAS
GeneID:7291 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
GeneID:7291 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IMP
GeneID:7291 -> Biological process: GO:0048642 [negative regulation of skeletal muscle tissue development] evidence: IEA
GeneID:7291 -> Biological process: GO:0048701 [embryonic cranial skeleton morphogenesis] evidence: IMP
GeneID:7291 -> Biological process: GO:0060363 [cranial suture morphogenesis] evidence: TAS
GeneID:7291 -> Biological process: GO:0060900 [embryonic camera-type eye formation] evidence: IMP
GeneID:7291 -> Biological process: GO:0061029 [eyelid development in camera-type eye] evidence: IMP
GeneID:7291 -> Biological process: GO:0071456 [cellular response to hypoxia] evidence: IMP
GeneID:7291 -> Biological process: GO:0071639 [positive regulation of monocyte chemotactic protein-1 production] evidence: IMP
GeneID:7291 -> Biological process: GO:2000147 [positive regulation of cell motility] evidence: IMP
GeneID:7291 -> Biological process: GO:2000147 [positive regulation of cell motility] evidence: NAS
GeneID:7291 -> Biological process: GO:2000276 [negative regulation of oxidative phosphorylation uncoupler activity] evidence: IEA
GeneID:7291 -> Biological process: GO:2000679 [positive regulation of transcription regulatory region DNA binding] evidence: IMP
GeneID:7291 -> Biological process: GO:2000773 [negative regulation of cellular senescence] evidence: IMP
GeneID:7291 -> Biological process: GO:2000778 [positive regulation of interleukin-6 secretion] evidence: IMP
GeneID:7291 -> Biological process: GO:2000780 [negative regulation of double-strand break repair] evidence: IMP
GeneID:7291 -> Biological process: GO:2000793 [cell proliferation involved in heart valve development] evidence: IMP
GeneID:7291 -> Biological process: GO:2000802 [positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation] evidence: IEA
GeneID:7291 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
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