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BHA09_DANRE
ID   BHA09_DANRE             Reviewed;         271 AA.
AC   A3KNX5;
DT   10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT   10-JUN-2008, sequence version 2.
DT   03-AUG-2022, entry version 62.
DE   RecName: Full=Class A basic helix-loop-helix protein 9;
DE            Short=bHLHa9;
DE   AltName: Full=Class B basic helix-loop-helix factor 42;
DE            Short=bHLHf42;
GN   Name=bhlha9; Synonyms=bhlhf42; ORFNames=wu:fb99e06;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Embryo;
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (MAR-2007) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX   PubMed=22147889; DOI=10.1136/jmedgenet-2011-100409;
RA   Klopocki E., Lohan S., Doelken S.C., Stricker S., Ockeloen C.W.,
RA   Soares Thiele de Aguiar R., Lezirovitz K., Mingroni Netto R.C.,
RA   Jamsheer A., Shah H., Kurth I., Habenicht R., Warman M., Devriendt K.,
RA   Kordass U., Hempel M., Rajab A., Makitie O., Naveed M., Radhakrishna U.,
RA   Antonarakis S.E., Horn D., Mundlos S.;
RT   "Duplications of BHLHA9 are associated with ectrodactyly and tibia
RT   hemimelia inherited in non-Mendelian fashion.";
RL   J. Med. Genet. 49:119-125(2012).
CC   -!- FUNCTION: Transcription factor, which play a role in limb development.
CC       Is an essential player in the regulatory network governing
CC       transcription of genes implicated in limb morphogenesis.
CC       {ECO:0000250|UniProtKB:Q7RTU4, ECO:0000269|PubMed:22147889}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
CC   -!- DEVELOPMENTAL STAGE: At 60 hours post-fertilization, expressed in the
CC       mesenchyme of the fin field. {ECO:0000269|PubMed:22147889}.
CC   -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein causes severe
CC       truncation of pectoral fins at 72 hours post-fertilization.
CC       {ECO:0000269|PubMed:22147889}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAI34058.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; BC134057; AAI34058.1; ALT_INIT; mRNA.
DR   AlphaFoldDB; A3KNX5; -.
DR   SMR; A3KNX5; -.
DR   ZFIN; ZDB-GENE-030131-2201; bhlha9.
DR   InParanoid; A3KNX5; -.
DR   PhylomeDB; A3KNX5; -.
DR   PRO; PR:A3KNX5; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
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:0033339; P:pectoral fin development; IMP:ZFIN.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   Gene3D; 4.10.280.10; -; 1.
DR   InterPro; IPR011598; bHLH_dom.
DR   InterPro; IPR036638; HLH_DNA-bd_sf.
DR   Pfam; PF00010; HLH; 1.
DR   SMART; SM00353; HLH; 1.
DR   SUPFAM; SSF47459; SSF47459; 1.
DR   PROSITE; PS50888; BHLH; 1.
PE   2: Evidence at transcript level;
KW   Developmental protein; DNA-binding; Nucleus; Reference proteome;
KW   Transcription; Transcription regulation.
FT   CHAIN           1..271
FT                   /note="Class A basic helix-loop-helix protein 9"
FT                   /id="PRO_0000341379"
FT   DOMAIN          64..116
FT                   /note="bHLH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT   REGION          17..49
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   271 AA;  29911 MW;  6884B22A165BA9F8 CRC64;
     MTPVSVCRFS MASRGSFTGS EFSEEEPDGS LQESELDSSD GLGGLNEPEE RLIKKRSRPV
     RSKARRVAAN VRERKRILDY NQAFNALRVA LHHDLSGKRL SKIATLQRAI NRISALSVFL
     TNNPPVGVAK PCGHLECQPG GLWAEAEPSM QNFLTWHQPL NQHLQTSIHR LSSEQHVFTG
     PACPPSPHYP CFSPDTQLYP AASVPSPPRY GRIGDVGAYQ QGVWGGNHAD GYGESLQTLP
     LPWHMGYLQD AGLQHCPNTL CYTQCKTVRA L
 
 
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