The Chromosome 7 Annotation Project
Home   GBrowse   Clinical Data   Data Tables   Download   Resources   Links   For Families  

TCAG Gene Summary: TWIST1 [GA0328]

Gene / Transcript Structure
Click the image to go to the GBrowse
General information
Class Known_Gene
TCAG Gene ID GA0328 [Old ID: HSC7000328]
Gene Symbol TWIST1 [HUGO ID: TWIST1]
Gene Name Twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)
Synonyms ACS3, BPES2, BPES3, SCS, TWIST
Summary 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.
Omim TWIST, Drosophila, homolog of | 601622
Phenotype Saethre-Chotzen syndrome [101400]
Saethre-Chotzen syndrome with eyelid anomalies [101400]
Gene Ontology ●Biological process
   Cell differentiation [GO:0030154]
   Chromosome organization and biogenesis (sensu Eukarya) [GO:0007001]
   Morphogenesis [GO:0009653]
   Negative regulation of transcription from Pol II promoter [GO:0000122]
   Skeletal development [GO:0001501]
●Cellular component
   Nucleus [GO:0005634]
●Molecular function
   DNA binding [GO:0003677]
   RNA polymerase II transcription factor activity [GO:0003702]
   Enzyme inhibitor activity [GO:0004857]
   Protein binding [GO:0005515]
Transcript TWIST1 | T00295 | NM_000474.2
External links
LocusLink 7291
RefSeq NM_000474 | NP_000465
GenBank AC003986 [genome]
U80998 [genome]
X91662 [genome]
Y10871 [genome]
BC036704 [mRNA]
X99268 [mRNA]
Y11177 [mRNA]
PubMed 14724576, 14513358, 12791045, 12477932, 12270142, 12015302, 11977182, 11948912, 11854168, 11754069, 11748846, 11474656, 11062344, 10025406, 9215678, 9073070, 8995765, 8988167, 8988166, 8968762, 7987323, 7296937, 1433226
ABI Gene Expression "Assays-on-Demand™" Hs00361186_m1
Affymetrix GeneChip U133A
U95A|40328_at
Transcript Sequence(s)
>T00295 Gene_ID:GA0328,Symbol:TWIST1,Class:Known_Gene,BaseSeq:NM_000474.2
GCGGGGGAAGCTGGCGGGCTGAGGCGCCCCGCTCTTCTCCTCTGCCCCGGGCCCGCGAGGCCACGCGTCGCCGCTCGAGA
GATGATGCAGGACGTGTCCAGCTCGCCAGTCTCGCCGGCCGACGACAGCCTGAGCAACAGCGAGGAAGAGCCAGACCGGC
AGCAGCCGCCGAGCGGCAAGCGCGGGGGACGCAAGCGGCGCAGCAGCAGGCGCAGCGCGGGCGGCGGCGCGGGGCCCGGC
GGAGCCGCGGGTGGGGGCGTCGGAGGCGGCGACGAGCCGGGCAGCCCGGCCCAGGGCAAGCGCGGCAAGAAGTCTGCGGG
CTGTGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGGGAGTCCGCAGTCTTACGAGGAGCTGC
AGACGCAGCGGGTCATGGCCAACGTGCGGGAGCGCCAGCGCACCCAGTCGCTGAACGAGGCGTTCGCCGCGCTGCGGAAG
ATCATCCCCACGCTGCCCTCGGACAAGCTGAGCAAGATTCAGACCCTCAAGCTGGCGGCCAGGTACATCGACTTCCTCTA
CCAGGTCCTCCAGAGCGACGAGCTGGACTCCAAGATGGCAAGCTGCAGCTATGTGGCTCACGAGCGGCTCAGCTACGCCT
TCTCGGTCTGGAGGATGGAGGGGGCCTGGTCCATGTCCGCGTCCCACTAGCAGGCGGAGCCCCCCACCCCCTCAGCAGGG
CCGGAGACCTAGATGTCATTGTTTCCAGAGAAGGAGAAAATGGACAGTCTAGAGACTCTGGAGCTGGATAACTAAAAATA
AAAATATATGCCAAAGATTTTCTTGGAAATTAGAAGAGCAAAATCCAAATTCAAAGAAACAGGGCGTGGGGCGCACTTTT
AAAAGAGAAAGCGAGACAGGCCCGTGGACAGTGATTCCCAGACGGGCAGCGGCACCATCCTCACACCTCTGCATTCTGAT
AGAAGTCTGAACAGTTGTTTGTGTTTTTTTTTTTTTTTTTTTTGACGAAGAATGTTTTTATTTTTATTTTTTTCATGCAT
GCATTCTCAAGAGGTCGTGCCAATCAGCCACTGAAAGGAAAGGCATCACTATGGACTTTCTCTATTTTAAAATGGTAACA
ATCAGAGGAACTATAAGAACACCTTTAGAAATAAAAATACTGGGATCAAACTGGCCTGCAAAACCATAGTCAGTTAATTC
TTTTTTTCATCCTTCCTCTGAGGGGAAAAACAAAAAAAAACTTAAAATACAAAAAACAACATTCTATTTATTTATTGAGG
ACCCATGGTAAAATGCAAATAGATCCGGTGTCTAAATGCATTCATATTTTTATGATTGTTTTGTAAATATCTTTGTATAT
TTTTCTGCAATAAATAAATATAAAAAATTTAGAGAA

Note: Some data originated from NCBI's LocusLink.