Reviewed, UniProtKB/Swiss-Prot O14503 (BHE40_HUMAN)

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	412 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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 basic helix-loop-helix (bHLH) domain. Contains 1 Orange domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
PTM	Phosphoprotein Ubl conjugation
Gene Ontology (GO)
Biological process	transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Ref.1 Non-traceable author statement. Source: UniProtKB
Molecular function	protein binding Ref.5 Inferred from physical interaction. Source: IntAct transcription factor activity Ref.1 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
UBE2I	P63279	2	EBI-711810,EBI-80168

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 412	412	Class E basic helix-loop-helix protein 40		PRO_0000127144
Regions
	Domain	66 – 108	43	Helix-loop-helix motif
	Domain	142 – 175	34	Orange
	DNA binding	53 – 65	13	Basic motif
Amino acid modifications
	Modified residue	383	1	Phosphoserine By similarity

Sequences

	Sequence		Length	Mass (Da)
	O14503-1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 2D73A3D4980793E5	FASTA	412	45,510
	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

References

	« Hide 'large scale' referencesShow '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: 9240428] [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: 11226878] [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: 15489334] [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 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: 11278694] [Abstract] Cited for: UBIQUITINATION, INTERACTION WITH UBE2I, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB004066 mRNA. Translation: BAA21720.1. AB043885 Genomic DNA. Translation: BAB18565.1. BC082238 mRNA. Translation: AAH82238.1. AF353635, AF353634 Genomic DNA. Translation: AAK49525.1.
IPI	IPI00021143.
PIR	JC5547.
RefSeq	NP_003661.1.
UniGene	Hs.171825
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O14503. 6 interactions.
PTM databases
PhosphoSite	O14503.
Proteomic databases
PRIDE	O14503.
Genome annotation databases
Ensembl	ENSG00000134107. Homo sapiens. [Contig view]
GeneID	8553.
KEGG	hsa:8553.
Organism-specific databases
GeneCards	GC03P004997.
H-InvDB	HIX0030690.
HGNC	HGNC:1046. BHLHE40.
MIM	604256. gene.
PharmGKB	PA25347.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O14503.
HOVERGEN	O14503.
OMA	O14503. IKRSEDS.
Enzyme and pathway databases
Pathway_Interaction_DB	circadianpathway. Circadian rhythm pathway. hif1_tfpathway. HIF-1-alpha transcription factor network.
Gene expression databases
ArrayExpress	O14503.
Bgee	O14503.
CleanEx	HS_DEC1. HS_STRA13.
GermOnline	ENSG00000134107. Homo sapiens.
Family and domain databases
InterPro	IPR001092. HLH_basic. IPR011598. HLH_DNA_bd. IPR003650. Orange. IPR018352. Orange_subgroup. [Graphical view]
Gene3D	G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
Pfam	PF07527. Hairy_orange. 1 hit. PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. SM00511. ORANGE. 1 hit. [Graphical view]
PROSITE	PS50888. HLH. 1 hit. PS51054. ORANGE. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	32049.
SOURCE	Search...

Entry information

Entry name

BHE40_HUMAN

Accession

Primary (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:	June 16, 2009
This is version 74 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)