TWIST_CAEEL
ID TWIST_CAEEL Reviewed; 178 AA.
AC Q11094; O76255;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 27-MAY-2002, sequence version 2.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Twist-related protein;
DE AltName: Full=CeTwist;
DE AltName: Full=Helix-loop-helix protein 8;
GN Name=hlh-8; ORFNames=C02B8.4;
OS Caenorhabditis elegans.
OC Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida;
OC Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae;
OC Caenorhabditis.
OX NCBI_TaxID=6239;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, AND SUBUNIT.
RX PubMed=9716413; DOI=10.1101/gad.12.16.2623;
RA Harfe B.D., Vaz Gomes A., Kenyon C., Liu J., Krause M., Fire A.;
RT "Analysis of a Caenorhabditis elegans Twist homolog identifies conserved
RT and divergent aspects of mesodermal patterning.";
RL Genes Dev. 12:2623-2635(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Bristol N2;
RX PubMed=9851916; DOI=10.1126/science.282.5396.2012;
RG The C. elegans sequencing consortium;
RT "Genome sequence of the nematode C. elegans: a platform for investigating
RT biology.";
RL Science 282:2012-2018(1998).
RN [3]
RP FUNCTION, MUTAGENESIS OF ARG-28, AND MUTAGENESIS OF GLU-29.
RX PubMed=28369379; DOI=10.1093/hmg/ddx107;
RA Kim S., Twigg S.R.F., Scanlon V.A., Chandra A., Hansen T.J., Alsubait A.,
RA Fenwick A.L., McGowan S.J., Lord H., Lester T., Sweeney E., Weber A.,
RA Cox H., Wilkie A.O.M., Golden A., Corsi A.K.;
RT "Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct
RT human diseases that can be modeled in Caenorhabditis elegans.";
RL Hum. Mol. Genet. 26:2118-2132(2017).
CC -!- FUNCTION: Acts as a transcriptional regulator. Involved in
CC postembryonic mesodermal cell fate specification. Activates ceh-24 and
CC egl-15 during mesodermal patterning. {ECO:0000269|PubMed:28369379,
CC ECO:0000269|PubMed:9716413}.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein. Homodimer. Forms a heterodimer with hlh-2.
CC {ECO:0000269|PubMed:9716413}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
CC -!- TISSUE SPECIFICITY: Expressed in defecation-associated muscles and
CC neuron-like cells in the head at the L1 stage. In later larvae,
CC expressed in SM cells and their descendants. Not expressed in
CC differentiated body wall or sex muscles. {ECO:0000269|PubMed:9716413}.
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DR EMBL; AF037063; AAC26105.1; -; mRNA.
DR EMBL; FO080272; CCD62506.1; -; Genomic_DNA.
DR PIR; T15373; T15373.
DR PIR; T42395; T42395.
DR RefSeq; NP_509367.1; NM_076966.1.
DR AlphaFoldDB; Q11094; -.
DR SMR; Q11094; -.
DR BioGRID; 45992; 5.
DR IntAct; Q11094; 3.
DR STRING; 6239.C02B8.4; -.
DR PaxDb; Q11094; -.
DR EnsemblMetazoa; C02B8.4.1; C02B8.4.1; WBGene00001953.
DR EnsemblMetazoa; C02B8.4.2; C02B8.4.2; WBGene00001953.
DR GeneID; 181069; -.
DR KEGG; cel:CELE_C02B8.4; -.
DR UCSC; C02B8.4; c. elegans.
DR CTD; 181069; -.
DR WormBase; C02B8.4; CE24777; WBGene00001953; hlh-8.
DR eggNOG; KOG4447; Eukaryota.
DR GeneTree; ENSGT00940000172846; -.
DR HOGENOM; CLU_1511964_0_0_1; -.
DR InParanoid; Q11094; -.
DR OMA; SMPSDKM; -.
DR OrthoDB; 1509553at2759; -.
DR PhylomeDB; Q11094; -.
DR PRO; PR:Q11094; -.
DR Proteomes; UP000001940; Chromosome X.
DR Bgee; WBGene00001953; Expressed in larva and 4 other tissues.
DR GO; GO:0005634; C:nucleus; IC:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0032502; P:developmental process; IBA:GO_Central.
DR GO; GO:0007501; P:mesodermal cell fate specification; IDA:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IGI:WormBase.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IMP:UniProtKB.
DR GO; GO:0072327; P:vulval cell fate specification; IMP:UniProtKB.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR015789; Twist-related.
DR PANTHER; PTHR23349:SF50; PTHR23349:SF50; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 1: Evidence at protein level;
KW Activator; Developmental protein; Differentiation; DNA-binding; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..178
FT /note="Twist-related protein"
FT /id="PRO_0000127494"
FT DOMAIN 20..71
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT MUTAGEN 28
FT /note="R->G: Impaired vulval muscles development."
FT /evidence="ECO:0000269|PubMed:28369379"
FT MUTAGEN 28
FT /note="R->L: No effect on vulval muscles development.
FT Decreased brood size."
FT /evidence="ECO:0000269|PubMed:28369379"
FT MUTAGEN 28
FT /note="R->W: Impaired vulval muscles development."
FT /evidence="ECO:0000269|PubMed:28369379"
FT MUTAGEN 29
FT /note="E->A: Dominant negative effect on function in
FT transcription regulation and mesodermal cells fate
FT specification. Delayed development. Impaired vulval and
FT non-striated enteric muscles development."
FT /evidence="ECO:0000269|PubMed:28369379"
FT MUTAGEN 29
FT /note="E->D: Dominant negative effect on function in
FT transcription regulation and mesodermal cells fate
FT specification. Delayed development. Impaired vulval and
FT non-striated enteric muscles development."
FT /evidence="ECO:0000269|PubMed:28369379"
FT MUTAGEN 29
FT /note="E->G: Dominant negative effect on function in
FT transcription regulation and mesodermal cells fate
FT specification. Impaired vulval and non-striated enteric
FT muscles development."
FT /evidence="ECO:0000269|PubMed:28369379"
FT MUTAGEN 29
FT /note="E->K: Dominant negative effect on function in
FT transcription regulation and mesodermal cells fate
FT specification. Delayed development. Impaired vulval and
FT non-striated enteric muscles development."
FT /evidence="ECO:0000269|PubMed:28369379"
FT MUTAGEN 29
FT /note="E->Q: Dominant negative effect on function in
FT transcription regulation and mesodermal cells fate
FT specification. Impaired vulval muscles development."
FT /evidence="ECO:0000269|PubMed:28369379"
FT MUTAGEN 29
FT /note="E->V: Dominant negative effect on function in
FT transcription regulation and mesodermal cells fate
FT specification. Delayed development. Impaired vulval and
FT non-striated enteric muscles development."
FT /evidence="ECO:0000269|PubMed:28369379"
SQ SEQUENCE 178 AA; 20452 MW; 4670970BEFB15E1F CRC64;
MVARRKGERV VRKNEVENVQ QRACANRRER QRTKELNDAF TLLRKLIPSM PSDKMSKIHT
LRIATDYISF LDEMQKNGCK LYGHSIFDEK RGYNLQSAFN MWRGNNGYTP IAGPSQLPPL
QSAHIPPPAP SSIPPHCLMP QPWYQTCPPP KQEFHELCPI STPNPNSNPN QLTPIHWQ
