BHA09_MOUSE
ID BHA09_MOUSE Reviewed; 231 AA.
AC Q5RJB0; Q80ZL8; Q8BLP5;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 1.
DT 03-AUG-2022, entry version 101.
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;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Limb;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 60-231.
RC STRAIN=C57BL/6J; TISSUE=Brain cortex;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [4]
RP DEVELOPMENTAL STAGE.
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}.
CC -!- SUBUNIT: Heterodimer. Efficient DNA binding requires dimerization with
CC another bHLH protein. Interacts with TCF3, TCF4, and TCF12.
CC {ECO:0000250|UniProtKB:Q7RTU4}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
CC -!- DEVELOPMENTAL STAGE: At 10.5 dpc, expressed in forelimb and hindlimb
CC buds, in the distal mesenchyme below the apical ectodermal ridge. At
CC 11.5 dpc, expression is restricted to the subridge mesenchymal layer,
CC as well as in the dorsal and ventral regions of the developing limbs.
CC {ECO:0000269|PubMed:22147889}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH48728.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC31704.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; BX000359; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC048728; AAH48728.1; ALT_INIT; mRNA.
DR EMBL; AK043927; BAC31704.1; ALT_INIT; mRNA.
DR CCDS; CCDS25068.2; -.
DR RefSeq; NP_796156.3; NM_177182.4.
DR AlphaFoldDB; Q5RJB0; -.
DR SMR; Q5RJB0; -.
DR STRING; 10090.ENSMUSP00000050516; -.
DR PhosphoSitePlus; Q5RJB0; -.
DR PaxDb; Q5RJB0; -.
DR PRIDE; Q5RJB0; -.
DR Antibodypedia; 60610; 69 antibodies from 14 providers.
DR DNASU; 320522; -.
DR Ensembl; ENSMUST00000056184; ENSMUSP00000050516; ENSMUSG00000044243.
DR GeneID; 320522; -.
DR KEGG; mmu:320522; -.
DR UCSC; uc007kfx.1; mouse.
DR CTD; 727857; -.
DR MGI; MGI:2444198; Bhlha9.
DR VEuPathDB; HostDB:ENSMUSG00000044243; -.
DR eggNOG; ENOG502RZWW; Eukaryota.
DR GeneTree; ENSGT00390000002453; -.
DR HOGENOM; CLU_093878_0_0_1; -.
DR InParanoid; Q5RJB0; -.
DR OMA; GHLECHS; -.
DR OrthoDB; 1267717at2759; -.
DR PhylomeDB; Q5RJB0; -.
DR TreeFam; TF337642; -.
DR BioGRID-ORCS; 320522; 2 hits in 73 CRISPR screens.
DR PRO; PR:Q5RJB0; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q5RJB0; protein.
DR Bgee; ENSMUSG00000044243; Expressed in dorsal root ganglion and 43 other tissues.
DR Genevisible; Q5RJB0; MM.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
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:0046982; F:protein heterodimerization activity; ISS:UniProtKB.
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: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..231
FT /note="Class A basic helix-loop-helix protein 9"
FT /id="PRO_0000341378"
FT DOMAIN 61..113
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 135..168
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 135..155
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 66
FT /note="A -> G (in Ref. 3; BAC31704)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 231 AA; 25115 MW; D25ACC159CF730D1 CRC64;
MLRGTPGLGL GGLNRAEDFV EDLGRSCSEA GRNFGVLRRS SLDEAEEAAG RKRERPTRSK
ARRMAANVRE RKRILDYNEA FNALRRALQH DLGGKRLSKI ATLRRAIHRI TALSLVLRAS
PAPRWPCGHL ECHGQAAQGS STGNSSFSVP RSAPSPIAPS LTRRDIASPL VPPTPRCASC
SPHSHLGRPR VMAEVPNLAQ TSGGNWRQCP GAPPVRPVSW RWGSGLGYQH S
