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O14503 (BHE40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Class E basic helix-loop-helix protein 40

Short name=bHLHe40
Alternative name(s):
Class B basic helix-loop-helix protein 2
Short name=bHLHb2
Differentially expressed in chondrocytes protein 1
Short name=DEC1
Enhancer-of-split and hairy-related protein 2
Short name=SHARP-2
Stimulated by retinoic acid gene 13 protein
Gene names
Name:BHLHE40
Synonyms:BHLHB2, DEC1, SHARP2, STRA13
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length412 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May function as a transcriptional factor to modulate chondrogenesis in response to the cAMP pathway.

Subunit structure

Able to homodimerize or heterodimerize with TCF3/E47. Interacts with ubiquitin-conjugating enzyme UBE2I/UBC9. Ref.5

Subcellular location

Nucleus Ref.5.

Tissue specificity

Expressed in cartilage, spleen, intestine, lung, and to a lesser extent in heart, brain, liver, muscle and stomach.

Post-translational modification

Ubiquitinated; which may lead to proteasomal degradation. Ref.5

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Contains 1 Orange domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   PTMUbl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcircadian regulation of gene expression

Inferred from direct assay PubMed 18411297. Source: BHF-UCL

entrainment of circadian clock by photoperiod

Inferred from sequence or structural similarity PubMed 18411297. Source: BHF-UCL

negative regulation of sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 18411297. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 12397359PubMed 12624110PubMed 14672706PubMed 15193144. Source: BHF-UCL

regulation of transcription, DNA-templated

Non-traceable author statement Ref.1. Source: UniProtKB

transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 12397359. Source: GOC

   Cellular_componentGolgi apparatus

Inferred from direct assay. Source: HPA

nucleolus

Inferred from direct assay. Source: HPA

nucleus

Non-traceable author statement Ref.1. Source: UniProtKB

   Molecular_functionE-box binding

Inferred from direct assay PubMed 12397359PubMed 12624110PubMed 14672706PubMed 15193144PubMed 15560782PubMed 18411297. 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 transcription factor activity involved in negative regulation of transcription

Inferred from direct assay PubMed 12624110PubMed 15193144PubMed 18411297. 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 direct assay PubMed 12397359PubMed 18411297. Source: BHF-UCL

bHLH transcription factor binding

Inferred from physical interaction PubMed 12397359PubMed 15193144. Source: BHF-UCL

protein domain specific binding

Inferred from physical interaction PubMed 15560782. Source: BHF-UCL

protein heterodimerization activity

Inferred from physical interaction PubMed 12397359PubMed 15193144PubMed 15560782. Source: BHF-UCL

protein homodimerization activity

Inferred from direct assay PubMed 15560782. Source: BHF-UCL

sequence-specific DNA binding RNA polymerase II transcription factor activity

Inferred from direct assay PubMed 12397359. Source: BHF-UCL

sequence-specific DNA binding transcription factor activity

Non-traceable author statement Ref.1. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

TP53P046375EBI-711810,EBI-366083
UBE2IP632793EBI-711810,EBI-80168

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 412412Class E basic helix-loop-helix protein 40
PRO_0000127144

Regions

Domain52 – 10756bHLH
Domain142 – 17534Orange

Sequences

Sequence LengthMass (Da)Tools
O14503 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 2D73A3D4980793E5

FASTA41245,510
        10         20         30         40         50         60 
MERIPSAQPP PACLPKAPGL EHGDLPGMYP AHMYQVYKSR RGIKRSEDSK ETYKLPHRLI 

        70         80         90        100        110        120 
EKKRRDRINE CIAQLKDLLP EHLKLTTLGH LEKAVVLELT LKHVKALTNL IDQQQQKIIA 

       130        140        150        160        170        180 
LQSGLQAGEL SGRNVETGQE MFCSGFQTCA REVLQYLAKH ENTRDLKSSQ LVTHLHRVVS 

       190        200        210        220        230        240 
ELLQGGTSRK PSDPAPKVMD FKEKPSSPAK GSEGPGKNCV PVIQRTFAHS SGEQSGSDTD 

       250        260        270        280        290        300 
TDSGYGGESE KGDLRSEQPC FKSDHGRRFT MGERIGAIKQ ESEEPPTKKN RMQLSDDEGH 

       310        320        330        340        350        360 
FTSSDLISSP FLGPHPHQPP FCLPFYLIPP SATAYLPMLE KCWYPTSVPV LYPGLNASAA 

       370        380        390        400        410 
ALSSFMNPDK ISAPLLMPQR LPSPLPAHPS VDSSVLLQAL KPIPPLNLET KD 

« Hide

References

« Hide 'large scale' references
[1]"Molecular characterization of the novel basic helix-loop-helix protein DEC1 expressed in differentiated human embryo chondrocytes."
Shen M., Kawamoto T., Yan W., Nakamasu K., Tamagami M., Koyano Y., Noshiro M., Kato Y.
Biochem. Biophys. Res. Commun. 236:294-298(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Cartilage.
[2]"Gene structure and chromosomal location of a human bHLH transcriptional factor DEC1 x Stra13 x SHARP-2/BHLHB2."
Teramoto M., Nakamasu K., Noshiro M., Matsuda Y., Gotoh O., Shen M., Tsutsumi S., Kawamoto T., Iwamoto Y., Kato Y.
J. Biochem. 129:391-396(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Leukocyte.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Skin.
[4]"Exon-intron structure of the human STRA13(DEC1) bHLH transcription factor gene."
Ivanov S.V., Lerman M.I.
Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 4-412.
[5]"Regulation of STRA13 by the von Hippel-Lindau tumor suppressor protein, hypoxia, and the UBC9/ubiquitin proteasome degradation pathway."
Ivanova A.V., Ivanov S.V., Danilkovitch-Miagkova A., Lerman M.I.
J. Biol. Chem. 276:15306-15315(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: UBIQUITINATION, INTERACTION WITH UBE2I, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB004066 mRNA. Translation: BAA21720.1.
AB043885 Genomic DNA. Translation: BAB18565.1.
BC082238 mRNA. Translation: AAH82238.1.
AH010709 Genomic DNA. Translation: AAK49525.1.
PIRJC5547.
RefSeqNP_003661.1. NM_003670.2.
UniGeneHs.744856.

3D structure databases

ProteinModelPortalO14503.
SMRO14503. Positions 53-109, 137-181.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114123. 24 interactions.
DIPDIP-36698N.
IntActO14503. 48 interactions.
MINTMINT-1374397.
STRING9606.ENSP00000256495.

PTM databases

PhosphoSiteO14503.

Proteomic databases

PaxDbO14503.
PRIDEO14503.

Protocols and materials databases

DNASU8553.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256495; ENSP00000256495; ENSG00000134107.
GeneID8553.
KEGGhsa:8553.
UCSCuc003bqf.3. human.

Organism-specific databases

CTD8553.
GeneCardsGC03P004997.
HGNCHGNC:1046. BHLHE40.
HPAHPA028921.
HPA028922.
MIM604256. gene.
neXtProtNX_O14503.
PharmGKBPA25347.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG281955.
HOGENOMHOG000234381.
InParanoidO14503.
KOK03729.
OMAEQPYFKS.
OrthoDBEOG712TWC.
PhylomeDBO14503.
TreeFamTF330859.

Enzyme and pathway databases

ReactomeREACT_24941. Circadian Clock.
SignaLinkO14503.

Gene expression databases

ArrayExpressO14503.
BgeeO14503.
CleanExHS_DEC1.
HS_STRA13.
GenevestigatorO14503.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR003650. Orange.
IPR018352. Orange_subgr.
[Graphical view]
PfamPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
SM00511. ORANGE. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBHLHE40. human.
GeneWikiBHLHB2.
GenomeRNAi8553.
NextBio32049.
PROO14503.
SOURCESearch...

Entry information

Entry nameBHE40_HUMAN
AccessionPrimary (citable) accession number: O14503
Secondary accession number(s): Q96TD3
Entry history
Integrated into UniProtKB/Swiss-Prot: March 5, 2002
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM