Q9C0J9 (BHE41_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Class E basic helix-loop-helix protein 41
Short name=bHLHe41

Alternative name(s):
Class B basic helix-loop-helix protein 3
Short name=bHLHb3
Differentially expressed in chondrocytes protein 2
Short name=hDEC2
Enhancer-of-split and hairy-related protein 1
Short name=SHARP-1

Gene names

Name:	BHLHE41
Synonyms:	BHLHB3, DEC2, SHARP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	482 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May be a transcriptional repressor that represses both basal and activated transcription. Ref.4
Subunit structure	Homodimerize.
Subcellular location	Nucleus By similarity.
Tissue specificity	Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.
Polymorphism	Genetic variations in BHLHE41 are associated with the short sleep phenotype [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 Orange domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Non-traceable author statement Ref.1. Source: UniProtKB cell proliferation Non-traceable author statement Ref.1. Source: UniProtKB circadian regulation of gene expression Inferred from electronic annotation. Source: Compara negative regulation of myotube differentiation Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of transcription by competitive promoter binding Inferred from sequence or structural similarity. Source: BHF-UCL organ morphogenesis Non-traceable author statement Ref.1. Source: UniProtKB
Cellular_component	nucleus Non-traceable author statement. Source: UniProtKB
Molecular_function	E-box binding Inferred from direct assay PubMed 14672706PubMed 15193144. Source: BHF-UCL MRF binding Inferred from sequence or structural similarity. Source: BHF-UCL RNA polymerase II activating transcription factor binding Inferred from sequence or structural similarity. Source: BHF-UCL RNA polymerase II core promoter proximal region sequence-specific DNA binding Inferred from sequence or structural similarity. Source: BHF-UCL RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Inferred from sequence or structural similarity. Source: BHF-UCL RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Inferred from sequence or structural similarity. Source: BHF-UCL RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription Inferred from sequence or structural similarity. Source: BHF-UCL histone deacetylase binding Inferred from sequence or structural similarity. Source: BHF-UCL protein heterodimerization activity Inferred from sequence or structural similarity. Source: BHF-UCL protein homodimerization activity Inferred from sequence or structural similarity. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 482	482	Class E basic helix-loop-helix protein 41		PRO_0000127147
Regions
	Domain	44 – 99	56	bHLH
	Domain	131 – 166	36	Orange
	Compositional bias	297 – 431	135	Ala/Gly-rich
Natural variations
	Natural variant	384	1	P → R Associated with short sleep phenotype. Ref.5		VAR_063259

Sequences

	Sequence		Length	Mass (Da)
	Q9C0J9 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 2BECDC2FDEB7CE14	FASTA	482	50,498
	10 20 30 40 50 60 MDEGIPHLQE RQLLEHRDFI GLDYSSLYMC KPKRSMKRDD TKDTYKLPHR LIEKKRRDRI 70 80 90 100 110 120 NECIAQLKDL LPEHLKLTTL GHLEKAVVLE LTLKHLKALT ALTEQQHQKI IALQNGERSL 130 140 150 160 170 180 KSPIQSDLDA FHSGFQTCAK EVLQYLSRFE SWTPREPRCV QLINHLHAVA TQFLPTPQLL 190 200 210 220 230 240 TQQVPLSKGT GAPSAAGSAA APCLERAGQK LEPLAYCVPV IQRTQPSAEL AAENDTDTDS 250 260 270 280 290 300 GYGGEAEARP DREKGKGAGA SRVTIKQEPP GEDSPAPKRM KLDSRGGGSG GGPGGGAAAA 310 320 330 340 350 360 AAALLGPDPA AAAALLRPDA ALLSSLVAFG GGGGAPFPQP AAAAAPFCLP FCFLSPSAAA 370 380 390 400 410 420 AYVQPFLDKS GLEKYLYPAA AAAPFPLLYP GIPAPAAAAA AAAAAAAAAA AFPCLSSVLS 430 440 450 460 470 480 PPPEKAGAAA ATLLPHEVAP LGAPHPQHPH GRTHLPFAGP REPGNPESSA QEDPSQPGKE AP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins." Fujimoto K., Shen M., Noshiro M., Matsubara K., Shingu S., Honda K., Yoshida E., Suardita K., Matsuda Y., Kato Y. Biochem. Biophys. Res. Commun. 280:164-171(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	NHLBI resequencing and genotyping service (RS&G) Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The basic helix-loop-helix protein, SHARP-1, represses transcription by a histone deacetylase-dependent and histone deacetylase-independent mechanism." Garriga-Canut M., Roopra A., Buckley N.J. J. Biol. Chem. 276:14821-14828(2001) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[5]	"The transcriptional repressor DEC2 regulates sleep length in mammals." He Y., Jones C.R., Fujiki N., Xu Y., Guo B., Holder J.L. Jr., Rossner M.J., Nishino S., Fu Y.H. Science 325:866-870(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARG-384, ASSOCIATION OF VARIANT ARG-384 WITH SHORT SLEEP PHENOTYPE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB044088 mRNA. Translation: BAB21502.1. EF015896 Genomic DNA. Translation: ABM64207.1. CH471094 Genomic DNA. Translation: EAW96527.1.
IPI	IPI00006153.
PIR	JC7583.
RefSeq	NP_110389.1. NM_030762.2.
UniGene	Hs.177841.
3D structure databases
ProteinModelPortal	Q9C0J9.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-59904N.
STRING	9606.ENSP00000242728.
PTM databases
PhosphoSite	Q9C0J9.
Polymorphism databases
DMDM	20137459.
Proteomic databases
PaxDb	Q9C0J9.
PRIDE	Q9C0J9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000242728; ENSP00000242728; ENSG00000123095.
GeneID	79365.
KEGG	hsa:79365.
UCSC	uc001rhb.3. human.
Organism-specific databases
CTD	79365.
GeneCards	GC12M026272.
HGNC	HGNC:16617. BHLHE41.
MIM	606200. gene. 612975. phenotype.
neXtProt	NX_Q9C0J9.
PharmGKB	PA164716636.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG235394.
HOGENOM	HOG000234381.
HOVERGEN	HBG050685.
InParanoid	Q9C0J9.
KO	K03730.
OMA	AYKLPHR.
OrthoDB	EOG4V6ZHP.
PhylomeDB	Q9C0J9.
Enzyme and pathway databases
Pathway_Interaction_DB	hif1_tfpathway. HIF-1-alpha transcription factor network.
Reactome	REACT_24941. Circadian Clock.
Gene expression databases
Bgee	Q9C0J9.
Genevestigator	Q9C0J9.
GermOnline	ENSG00000123095. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. IPR003650. Orange. IPR018352. Orange_subgr. [Graphical view]
Pfam	PF07527. Hairy_orange. 1 hit. PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. SM00511. ORANGE. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. PS51054. ORANGE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	BHLHE41. human.
GenomeRNAi	79365.
NextBio	68333.
SOURCE	Search...

Entry information

Entry name

BHE41_HUMAN

Accession

Primary (citable) accession number: Q9C0J9
Secondary accession number(s): A2I2N8

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 5, 2002
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.