LOCUS       NM_000474               1630 bp    mRNA    linear   PRI 13-NOV-2024
DEFINITION  Homo sapiens twist family bHLH transcription factor 1 (TWIST1),
            transcript variant 1, mRNA.
ACCESSION   NM_000474
VERSION     NM_000474.4
KEYWORDS    RefSeq; MANE Select.
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 1630)
  AUTHORS   Geister,E., Ard,D., Patel,H., Findley,A., DeSouza,G., Martin,L.,
            Knox,H., Gavara,N., Lugea,A. and Sabbatini,M.E.
  TITLE     The Role of Twist1 in Chronic Pancreatitis-Associated Pancreatic
            Stellate Cells
  JOURNAL   Am J Pathol 194 (10), 1879-1897 (2024)
   PUBMED   39032603
  REMARK    GeneRIF: The Role of Twist1 in Chronic Pancreatitis-Associated
            Pancreatic Stellate Cells.
REFERENCE   2  (bases 1 to 1630)
  AUTHORS   Peng,X., Ma,L., Chen,X., Tang,F. and Zong,X.
  TITLE     Inhibition of FBP1 expression by KMT5A through TWIST1 methylation
            is one of the mechanisms leading to chemoresistance in breast
            cancer
  JOURNAL   Oncol Rep 52 (2) (2024)
   PUBMED   38963044
  REMARK    GeneRIF: Inhibition of FBP1 expression by KMT5A through TWIST1
            methylation is one of the mechanisms leading to chemoresistance in
            breast cancer.
REFERENCE   3  (bases 1 to 1630)
  AUTHORS   Zhang,Y., Wang,J., Sun,H., Xun,Z., He,Z., Zhao,Y., Qi,J., Sun,S.,
            Yang,Q., Gu,Y., Zhang,L., Zhou,C., Ye,Y., Wu,N., Zou,D. and Su,B.
  TITLE     TWIST1+FAP+ fibroblasts in the pathogenesis of intestinal fibrosis
            in Crohn's disease
  JOURNAL   J Clin Invest 134 (18), e179472 (2024)
   PUBMED   39024569
  REMARK    GeneRIF: TWIST1+FAP+ fibroblasts in the pathogenesis of intestinal
            fibrosis in Crohn's disease.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1630)
  AUTHORS   Dvorak,O., Slavickova,M., Laco,J., Stepan,M., Cermakova,E. and
            Spacek,J.
  TITLE     DNA hypermethylation of tumor suppressor genes TWIST1, GATA4, MUS81
            and NTRK1 in endometrial hyperplasia
  JOURNAL   Ceska Gynekol 89 (4), 261-268 (2024)
   PUBMED   39242200
  REMARK    GeneRIF: DNA hypermethylation of tumor suppressor genes TWIST1,
            GATA4, MUS81 and NTRK1 in endometrial hyperplasia.
REFERENCE   5  (bases 1 to 1630)
  AUTHORS   Zhao,Z., Rahman,M.A., Chen,Z.G. and Shin,D.M.
  TITLE     Multiple biological functions of Twist1 in various cancers
  JOURNAL   Oncotarget 8 (12), 20380-20393 (2017)
   PUBMED   28099910
  REMARK    Review article
REFERENCE   6  (bases 1 to 1630)
  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   7  (bases 1 to 1630)
  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   8  (bases 1 to 1630)
  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   9  (bases 1 to 1630)
  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
REFERENCE   10 (bases 1 to 1630)
  AUTHORS   Gallagher,E.R., Ratisoontorn,C. and Cunningham,M.L.
  TITLE     Saethre-Chotzen Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301368
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 Nov 23, 2018 this sequence version replaced NM_000474.3.
            
            Summary: This gene encodes a basic helix-loop-helix (bHLH)
            transcription factor that plays an important role in embryonic
            development. The encoded protein forms both homodimers and
            heterodimers that bind to DNA E box sequences and regulate the
            transcription of genes involved in cranial suture closure during
            skull development. This protein may also regulate neural tube
            closure, limb development and brown fat metabolism. This gene is
            hypermethylated and overexpressed in multiple human cancers, and
            the encoded protein promotes tumor cell invasion and metastasis, as
            well as metastatic recurrence. Mutations in this gene cause
            Saethre-Chotzen syndrome in human patients, which is characterized
            by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq,
            Jul 2020].
            
            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 :: X99268.1, BC036704.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2467147
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242261.6/ ENSP00000242261.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1235              BC036704.2         37-1271
            1236-1630           AW173505.1         17-411              c
FEATURES             Location/Qualifiers
     source          1..1630
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     gene            1..1630
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1;
                     CSO; SCS; SWCOS; TWIST"
                     /note="twist family bHLH transcription factor 1"
                     /db_xref="GeneID:7291"
                     /db_xref="HGNC:HGNC:12428"
                     /db_xref="MIM:601622"
     exon            1..966
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1;
                     CSO; SCS; SWCOS; TWIST"
                     /inference="alignment:Splign:2.1.0"
     CDS             316..924
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1;
                     CSO; SCS; SWCOS; TWIST"
                     /note="twist homolog 1; twist basic helix-loop-helix
                     transcription factor 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="CCDS:CCDS5367.1"
                     /db_xref="GeneID:7291"
                     /db_xref="HGNC:HGNC:12428"
                     /db_xref="MIM:601622"
                     /translation="MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRR
                     SAGGGAGPGGAAGGGVGGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQS
                     YEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLY
                     QVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH"
     exon            967..1630
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1;
                     CSO; SCS; SWCOS; TWIST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1;
                     CSO; SCS; SWCOS; TWIST"
                     /note="hexamer: TATAAA"
     polyA_site      1630
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1;
                     CSO; SCS; SWCOS; TWIST"
                     /note="major polyA site"
ORIGIN      
        1 aactcccaga cacctcgcgg gctctgcagc accggcaccg tttccaggag gcctggcggg
       61 gtgtgcgtcc agccgttggg cgctttcttt ttggacctcg gggccatcca caccgtcccc
      121 tccccctccc gcctccctcc ccgcctcccc cgcgcgccct ccccgcggag gtccctcccg
      181 tccgtcctcc tgctctctcc tccgcgggcc gcatcgcccg ggccggcgcc gcgcgcgggg
      241 gaagctggcg ggctgaggcg ccccgctctt ctcctctgcc ccgggcccgc gaggccacgc
      301 gtcgccgctc gagagatgat gcaggacgtg tccagctcgc cagtctcgcc ggccgacgac
      361 agcctgagca acagcgagga agagccagac cggcagcagc cgccgagcgg caagcgcggg
      421 ggacgcaagc ggcgcagcag caggcgcagc gcgggcggcg gcgcggggcc cggcggagcc
      481 gcgggtgggg gcgtcggagg cggcgacgag ccgggcagcc cggcccaggg caagcgcggc
      541 aagaagtctg cgggctgtgg cggcggcggc ggcgcgggcg gcggcggcgg cagcagcagc
      601 ggcggcggga gtccgcagtc ttacgaggag ctgcagacgc agcgggtcat ggccaacgtg
      661 cgggagcgcc agcgcaccca gtcgctgaac gaggcgttcg ccgcgctgcg gaagatcatc
      721 cccacgctgc cctcggacaa gctgagcaag attcagaccc tcaagctggc ggccaggtac
      781 atcgacttcc tctaccaggt cctccagagc gacgagctgg actccaagat ggcaagctgc
      841 agctatgtgg ctcacgagcg gctcagctac gccttctcgg tctggaggat ggagggggcc
      901 tggtccatgt ccgcgtccca ctagcaggcg gagcccccca ccccctcagc agggccggag
      961 acctagatgt cattgtttcc agagaaggag aaaatggaca gtctagagac tctggagctg
     1021 gataactaaa aataaaaata tatgccaaag attttcttgg aaattagaag agcaaaatcc
     1081 aaattcaaag aaacagggcg tggggcgcac ttttaaaaga gaaagcgaga caggcccgtg
     1141 gacagtgatt cccagacggg cagcggcacc atcctcacac ctctgcattc tgatagaagt
     1201 ctgaacagtt gtttgtgttt tttttttttt tttttttgac gaagaatgtt tttattttta
     1261 tttttttcat gcatgcattc tcaagaggtc gtgccaatca gccactgaaa ggaaaggcat
     1321 cactatggac tttctctatt ttaaaatggt aacaatcaga ggaactataa gaacaccttt
     1381 agaaataaaa atactgggat caaactggcc tgcaaaacca tagtcagtta attctttttt
     1441 tcatccttcc tctgagggga aaaacaaaaa aaaacttaaa atacaaaaaa caacattcta
     1501 tttatttatt gaggacccat ggtaaaatgc aaatagatcc ggtgtctaaa tgcattcata
     1561 tttttatgat tgttttgtaa atatctttgt atatttttct gcaataaata aatataaaaa
     1621 atttagagaa
//
