HES7
entrez
84667
canonical
uniprot
Q9BYE0
canonical
ensembl
ENSG00000179111
resolver
ensp
ENSP00000314774
resolver
ensp
ENSP00000446205
resolver
genesymbol
HES7
resolver
genesymbol_syn
BHLHB37
resolver
hgnc
HGNC:15977
resolver
uniprot
F8VPC9
resolver
uniprot_entry
HES7_HUMAN
resolver
uniprot_sec
F8VPC9
resolver
amino_acid_sequence
MVTRDRAENRDGPKMLKPLVEKRRRDRINRSLEELRLLLLERTRDQNLRNPKLEKAEILEFAVGYLRERSRVEPPGVPRSPVQDAEALASCYLSGFRECLLRLAAFAHDASPAARAQLFSALHGYLRPKPPRPKPVDPRPPAPRPSLDPAAPALGPALHQRPPVHQGHPSPRCAWSPSLCSPRAGDSGAPAPLTGLLPPPPPPHRQDGAPKAPLPPPPAFWRPWP
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:18775957, ECO:0000269|PubMed:20087400}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
24899
uniprot
proteins
pubmed
11260262
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18775957
uniprot
proteins
pubmed
20087400
uniprot
proteins
sequence_length
225
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins