BHE23_MOUSE
ID BHE23_MOUSE Reviewed; 223 AA.
AC Q8BGW3; Q71MB7;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Class E basic helix-loop-helix protein 23;
DE Short=bHLHe23;
DE AltName: Full=Class B basic helix-loop-helix protein 4;
DE Short=bHLHb4;
GN Name=Bhlhe23; Synonyms=Bhlhb4, H20;
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 [MRNA], FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=11863370; DOI=10.1006/geno.2002.6708;
RA Bramblett D.E., Copeland N.G., Jenkins N.A., Tsai M.-J.;
RT "BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that
RT marks the dimesencephalic boundary.";
RL Genomics 79:402-412(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC STRAIN=129/SvJ;
RA Takebayashi H., Nabeshima Y.;
RT "Mus musculus novel bHLH transcription factor mh20 gene, complete cds.";
RL Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Retina, and Spinal ganglion;
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 DISRUPTION PHENOTYPE, AND FUNCTION.
RX PubMed=15363390; DOI=10.1016/j.neuron.2004.08.032;
RA Bramblett D.E., Pennesi M.E., Wu S.M., Tsai M.-J.;
RT "The transcription factor Bhlhb4 is required for rod bipolar cell
RT maturation.";
RL Neuron 43:779-793(2004).
CC -!- FUNCTION: May function as transcriptional repressor. May modulate the
CC expression of genes required for the differentiation and/or maintenance
CC of pancreatic and neuronal cell types. May be important for rod bipolar
CC cell maturation. {ECO:0000269|PubMed:11863370,
CC ECO:0000269|PubMed:15363390}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in brain and retina.
CC -!- DEVELOPMENTAL STAGE: Expression is confined to regions of the
CC developing nervous system and pancreas. At 13 dpc expressed at lower
CC levels in the trigeminal ganglion, the ganglionic eminence, the ventral
CC neural tube, and dorsal root ganglia. Expressed at moderate levels in
CC the tectum of the embryonic midbrain. Most prominent expression is in
CC the diencephalon, where it flanks either side of the roof of the third
CC ventricle, dorsal/caudal to the dorsal thalamus. Detected in the
CC pancreas during the time when most of the pancreatic endocrine cell
CC types are beginning to differentiate and endocrine precursor cells
CC remain loosely associated with the duct epithelium until they begin to
CC form aggregates late in development. {ECO:0000269|PubMed:11863370}.
CC -!- DISRUPTION PHENOTYPE: Disrupted rod signaling and profound retinal
CC dysfunction. {ECO:0000269|PubMed:15363390}.
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DR EMBL; AF454760; AAL51039.1; -; mRNA.
DR EMBL; AB053118; BAC81773.1; -; Genomic_DNA.
DR EMBL; AK044215; BAC31821.1; -; mRNA.
DR EMBL; AK051155; BAC34539.1; -; mRNA.
DR CCDS; CCDS17187.1; -.
DR RefSeq; NP_542372.2; NM_080641.5.
DR AlphaFoldDB; Q8BGW3; -.
DR SMR; Q8BGW3; -.
DR STRING; 10090.ENSMUSP00000104506; -.
DR iPTMnet; Q8BGW3; -.
DR PhosphoSitePlus; Q8BGW3; -.
DR PaxDb; Q8BGW3; -.
DR PRIDE; Q8BGW3; -.
DR ProteomicsDB; 273452; -.
DR Antibodypedia; 29641; 21 antibodies from 13 providers.
DR DNASU; 140489; -.
DR Ensembl; ENSMUST00000108878; ENSMUSP00000104506; ENSMUSG00000045493.
DR GeneID; 140489; -.
DR KEGG; mmu:140489; -.
DR UCSC; uc008okb.2; mouse.
DR CTD; 128408; -.
DR MGI; MGI:2153710; Bhlhe23.
DR VEuPathDB; HostDB:ENSMUSG00000045493; -.
DR eggNOG; KOG3898; Eukaryota.
DR GeneTree; ENSGT00940000162992; -.
DR HOGENOM; CLU_070971_2_0_1; -.
DR InParanoid; Q8BGW3; -.
DR OMA; FGQAAVC; -.
DR OrthoDB; 1617813at2759; -.
DR PhylomeDB; Q8BGW3; -.
DR TreeFam; TF322733; -.
DR BioGRID-ORCS; 140489; 0 hits in 74 CRISPR screens.
DR PRO; PR:Q8BGW3; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; Q8BGW3; protein.
DR Bgee; ENSMUSG00000045493; Expressed in ureteric bud trunk and 28 other tissues.
DR ExpressionAtlas; Q8BGW3; baseline and differential.
DR Genevisible; Q8BGW3; MM.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:1901215; P:negative regulation of neuron death; IMP:MGI.
DR GO; GO:0046671; P:negative regulation of retinal cell programmed cell death; IMP:MGI.
DR GO; GO:0070997; P:neuron death; IMP:MGI.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:MGI.
DR GO; GO:0048050; P:post-embryonic eye morphogenesis; IMP:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0046666; P:retinal cell programmed cell death; IMP:MGI.
DR GO; GO:0046548; P:retinal rod cell development; IMP:MGI.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR032662; Bhlhe23.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR PANTHER; PTHR19290:SF53; PTHR19290:SF53; 1.
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 DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..223
FT /note="Class E basic helix-loop-helix protein 23"
FT /id="PRO_0000245527"
FT DOMAIN 98..152
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 32..93
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 69..93
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 87
FT /note="V -> F (in Ref. 1; AAL51039)"
FT /evidence="ECO:0000305"
FT CONFLICT 101
FT /note="L -> F (in Ref. 1; AAL51039)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 223 AA; 23701 MW; 68DCD15E0D70C1FA CRC64;
MAELKSLSGD SYLALSHSYT ATGHAYAAAR GPETTRGFGA SGPGGDLPAA PASRVPAATV
ESSGEQSGDE DEAFERRRRR RGSGVAVDAR RRPREQRSLR LSINARERRR MHDLNDALDG
LRAVIPYAHS PSVRKLSKIA TLLLAKNYIL MQAQALEEMR RLVAYLNQGQ GLAAPVAAAP
LTPFGQAAIY PFSAGTALGP CPDKCATFSG SPSALCKHCG EKP
