Q8BGW3 (BHE23_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Class E basic helix-loop-helix protein 23
Short name=bHLHe23

Alternative name(s):
Class B basic helix-loop-helix protein 4
Short name=bHLHb4

Gene names

Name:	Bhlhe23
Synonyms:	Bhlhb4, H20

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	223 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation. Ref.1 Ref.4
Subcellular location	Nucleus Probable.
Tissue specificity	Expressed in brain and retina.
Developmental stage	Expression is confined to regions of the developing nervous system and pancreas. At E13 expressed at lower levels in the trigeminal ganglion, the ganglionic eminence, the ventral neural tube, and dorsal root ganglia. Expressed at moderate levels in the tectum of the embryonic midbrain. Most prominent expression is in the diencephalon, where it flanks either side of the roof of the third ventricle, dorsal/caudal to the dorsal thalamus. Detected in the pancreas during the time when most of the pancreatic endocrine cell types are beginning to differentiate and endocrine precursor cells remain loosely associated with the duct epithelium until they begin to form aggregates late in development. Ref.1
Disruption phenotype	Disrupted rod signaling and profound retinal dysfunction. Ref.4
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of retinal cell programmed cell death Inferred from mutant phenotype Ref.4. Source: MGI positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay Ref.1. Source: MGI post-embryonic eye morphogenesis Inferred from mutant phenotype Ref.4. Source: MGI retinal rod cell development Inferred from mutant phenotype PubMed 17255172. Source: MGI transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 223	223	Class E basic helix-loop-helix protein 23		PRO_0000245527
Regions
	Domain	98 – 152	55	bHLH
	Compositional bias	76 – 110	35	Arg-rich
Experimental info
	Sequence conflict	87	1	V → F in AAL51039. Ref.1
	Sequence conflict	101	1	L → F in AAL51039. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q8BGW3 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 68DCD15E0D70C1FA	FASTA	223	23,701
	10 20 30 40 50 60 MAELKSLSGD SYLALSHSYT ATGHAYAAAR GPETTRGFGA SGPGGDLPAA PASRVPAATV 70 80 90 100 110 120 ESSGEQSGDE DEAFERRRRR RGSGVAVDAR RRPREQRSLR LSINARERRR MHDLNDALDG 130 140 150 160 170 180 LRAVIPYAHS PSVRKLSKIA TLLLAKNYIL MQAQALEEMR RLVAYLNQGQ GLAAPVAAAP 190 200 210 220 LTPFGQAAIY PFSAGTALGP CPDKCATFSG SPSALCKHCG EKP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundary." Bramblett D.E., Copeland N.G., Jenkins N.A., Tsai M.-J. Genomics 79:402-412(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DEVELOPMENTAL STAGE.
[2]	"Mus musculus novel bHLH transcription factor mh20 gene, complete cds." Takebayashi H., Nabeshima Y. Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Strain: 129/SvJ.
[3]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Strain: C57BL/6J. Tissue: Retina and Spinal ganglion.
[4]	"The transcription factor Bhlhb4 is required for rod bipolar cell maturation." Bramblett D.E., Pennesi M.E., Wu S.M., Tsai M.-J. Neuron 43:779-793(2004) [PubMed] [Europe PMC] [Abstract] Cited for: DISRUPTION PHENOTYPE, FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF454760 mRNA. Translation: AAL51039.1. AB053118 Genomic DNA. Translation: BAC81773.1. AK044215 mRNA. Translation: BAC31821.1. AK051155 mRNA. Translation: BAC34539.1.
IPI	IPI00308168.
RefSeq	NP_542372.2. NM_080641.5.
UniGene	Mm.134062.
3D structure databases
ProteinModelPortal	Q8BGW3.
SMR	Q8BGW3. Positions 100-156.
ModBase	Search...
Protein-protein interaction databases
STRING	10090.ENSMUSP00000104506.
PTM databases
PhosphoSite	Q8BGW3.
Proteomic databases
PRIDE	Q8BGW3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000061098; ENSMUSP00000052737; ENSMUSG00000045493. ENSMUST00000108878; ENSMUSP00000104506; ENSMUSG00000045493.
GeneID	140489.
KEGG	mmu:140489.
Organism-specific databases
CTD	128408.
MGI	MGI:2153710. Bhlhe23.
Phylogenomic databases
eggNOG	NOG308077.
GeneTree	ENSGT00530000063239.
HOGENOM	HOG000060094.
InParanoid	Q8BGW3.
KO	K09086.
OMA	LPGCPEK.
OrthoDB	EOG47M1ZW.
Gene expression databases
ArrayExpress	Q8BGW3.
Bgee	Q8BGW3.
Genevestigator	Q8BGW3.
GermOnline	ENSMUSG00000045493. Mus musculus.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	369804.
SOURCE	Search...

Entry information

Entry name

BHE23_MOUSE

Accession

Primary (citable) accession number: Q8BGW3
Secondary accession number(s): Q71MB7

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2006
Last sequence update:	March 1, 2003
Last modified:	May 1, 2013
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program