Entity Details

Primary name HES7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BYE0
EntryNameHES7_HUMAN
FullNameTranscription factor HES-7
TaxID9606
Evidenceevidence at protein level
Length225
SequenceStatuscomplete
DateCreated2006-10-17
DateModified2021-06-02

Ontological Relatives

GenesHES7

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001501 skeletal system development
GO:0001756 somitogenesis
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007219 Notch signaling pathway
GO:0007498 mesoderm development
GO:0008134 transcription factor binding
GO:0009952 anterior/posterior pattern specification
GO:0036342 post-anal tail morphogenesis
GO:0046983 protein dimerization activity
GO:0048511 rhythmic process
GO:0050767 regulation of neurogenesis
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR003650 Orange domainDomainDomain
IPR011598 Myc-type, basic helix-loop-helix (bHLH) domainDomainDomain
IPR032644 Transcription factor HES-7FamilyFamily
IPR036638 Helix-loop-helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613686 OMIMSpondylocostal dysostosis 4, autosomal recessive (SCDO4)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions