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