Reviewed, UniProtKB/Swiss-Prot Q8NDY6 (BHE23_HUMAN)

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

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	225 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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 By similarity.
Subcellular location	Nucleus Probable.
Sequence similarities	Contains 1 basic helix-loop-helix (bHLH) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	transcription 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 – 225	225	Class E basic helix-loop-helix protein 23		PRO_0000245526
Regions
	Domain	101 – 155	55	Helix-loop-helix motif
	DNA binding	79 – 100	22	Basic motif
	Compositional bias	78 – 112	35	Arg-rich

Sequences

	Sequence		Length	Mass (Da)
	Q8NDY6-1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 77B5720A3CE42E85	FASTA	225	23,665
	10 20 30 40 50 60 MAELKSLSGD AYLALSHGYA AAAAGLAYGA AREPEAARGY GTPGPGGDLP AAPAPRAPAQ 70 80 90 100 110 120 AAESSGEQSG DEDDAFEQRR RRRGPGSAAD GRRRPREQRS LRLSINARER RRMHDLNDAL 130 140 150 160 170 180 DGLRAVIPYA HSPSVRKLSK IATLLLAKNY ILMQAQALDE MRRLVAFLNQ GQGLAAPVNA 190 200 210 220 APLTPFGQAT VCPFSAGAAL GPCPDKCAAF SGTPSALCKH CHEKP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening." McLellan A.S., Langlands K., Kealey T. Mech. Dev. 119:S285-S291(2002) [PubMed: 14516699] [Abstract] Cited for: IDENTIFICATION.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AL121673 Genomic DNA. Translation: CAD37449.1. BK000274 mRNA. Translation: DAA01054.1.
IPI	IPI00184650.
RefSeq	NP_542173.1.
UniGene	Hs.551230
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q8NDY6.
Proteomic databases
PRIDE	Q8NDY6.
Genome annotation databases
Ensembl	ENST00000370346; ENSP00000359371; ENSG00000125533; Homo sapiens. [Genome view]
GeneID	128408.
KEGG	hsa:128408.
UCSC	uc002yeb.1. human.
Organism-specific databases
CTD	128408.
GeneCards	GC20M061110.
HGNC	HGNC:16093. BHLHE23.
MIM	609331. gene.
PharmGKB	PA25349.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG716159.
HOVERGEN	Q8NDY6.
InParanoid	Q8NDY6.
OMA	GDEEDGF.
OrthoDB	EOG97WR7G.
Gene expression databases
ArrayExpress	Q8NDY6.
Genevestigator	Q8NDY6.
GermOnline	ENSG00000125533. Homo sapiens.
Family and domain databases
InterPro	IPR001092. HLH_basic. IPR011598. HLH_DNA_bd. [Graphical view]
Gene3D	G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	82341.
SOURCE	Search...

Entry information

Entry name

BHE23_HUMAN

Accession

Primary (citable) accession number: Q8NDY6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2006
Last sequence update:	October 1, 2002
Last modified:	December 15, 2009
This is version 50 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.