Reviewed,
UniProtKB/Swiss-Prot O14503 (BHE40_HUMAN)
Last modified
June 16, 2009.
Version 74.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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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 |
| ||||
| 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 | |
| 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.1Non-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
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
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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: 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 | |
|---|---|
| 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 |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


