Version 5.4
Homo sapiens Protein: HES7
Summary
InnateDB Protein IDBP-27968.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HES7
Protein Name hairy and enhancer of split 7 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000314774
InnateDB Gene IDBG-27966 (HES7)
Protein Structure
UniProt Annotation
Function Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686]: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. {ECO:0000269PubMed:18775957, ECO:0000269PubMed:20087400}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0008134 transcription factor binding
GO:0046983 protein dimerization activity
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007498 mesoderm development
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR003650 Orange
IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
PFAM PF07527
PF00010
PRINTS
PIRSF
SMART SM00353
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BYE0
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 84667
UniGene
RefSeq NP_115969
HUGO HGNC:15977
OMIM 608059
CCDS CCDS42258
HPRD 09729
IMGT
EMBL AB049064 AC129492 BC039887
GenPept BAB39525

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca