UniProtKB - Q9BYE0 (HES7_HUMAN)
Transcription factor HES-7
HES7
Functioni
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).
By similarityGO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- protein dimerization activity Source: InterPro
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- anterior/posterior pattern specification Source: GO_Central
- mesoderm development Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: Ensembl
- Notch signaling pathway Source: Ensembl
- post-anal tail morphogenesis Source: Ensembl
- regulation of neurogenesis Source: GO_Central
- regulation of transcription by RNA polymerase II Source: GO_Central
- rhythmic process Source: Ensembl
- skeletal system development Source: Ensembl
- somitogenesis Source: Ensembl
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9BYE0 |
SignaLinki | Q9BYE0 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor HES-7Short name: hHes7 Alternative name(s): Class B basic helix-loop-helix protein 37 Short name: bHLHb37 Hairy and enhancer of split 7 bHLH factor Hes7 |
Gene namesi | Name:HES7 Synonyms:BHLHB37 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15977, HES7 |
MIMi | 608059, gene |
neXtProti | NX_Q9BYE0 |
VEuPathDBi | HostDB:ENSG00000179111 |
Pathology & Biotechi
Involvement in diseasei
Spondylocostal dysostosis 4, autosomal recessive (SCDO4)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064921 | 25 | R → W in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs113994160EnsemblClinVar. | 1 | |
Natural variantiVAR_064922 | 58 | I → V in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs387906979EnsemblClinVar. | 1 | |
Natural variantiVAR_064923 | 186 | D → Y in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs387906978Ensembl. | 1 |
Keywords - Diseasei
Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 84667 |
GeneReviewsi | HES7 |
MalaCardsi | HES7 |
MIMi | 613686, phenotype |
OpenTargetsi | ENSG00000179111 |
Orphaneti | 2311, Autosomal recessive spondylocostal dysostosis |
PharmGKBi | PA29254 |
Miscellaneous databases
Pharosi | Q9BYE0, Tbio |
Genetic variation databases
BioMutai | HES7 |
DMDMi | 296434525 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000252422 | 1 – 225 | Transcription factor HES-7Add BLAST | 225 |
Proteomic databases
MassIVEi | Q9BYE0 |
PaxDbi | Q9BYE0 |
PeptideAtlasi | Q9BYE0 |
PRIDEi | Q9BYE0 |
PTM databases
iPTMneti | Q9BYE0 |
PhosphoSitePlusi | Q9BYE0 |
Expressioni
Gene expression databases
Bgeei | ENSG00000179111, Expressed in cerebellar hemisphere and 108 other tissues |
ExpressionAtlasi | Q9BYE0, baseline and differential |
Genevisiblei | Q9BYE0, HS |
Organism-specific databases
HPAi | ENSG00000179111, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.
By similarityBinary interactionsi
Q9BYE0
GO - Molecular functioni
- protein dimerization activity Source: InterPro
Protein-protein interaction databases
BioGRIDi | 124187, 9 interactors |
ELMi | Q9BYE0 |
IntActi | Q9BYE0, 5 interactors |
STRINGi | 9606.ENSP00000446205 |
Miscellaneous databases
RNActi | Q9BYE0, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 12 – 69 | bHLHPROSITE-ProRule annotationAdd BLAST | 58 | |
Domaini | 92 – 122 | OrangePROSITE-ProRule annotationAdd BLAST | 31 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 125 – 225 | DisorderedSequence analysisAdd BLAST | 101 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 221 – 224 | WRPW motif | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 128 – 150 | Pro residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 193 – 225 | Pro residuesSequence analysisAdd BLAST | 33 |
Domaini
Phylogenomic databases
eggNOGi | KOG4304, Eukaryota |
GeneTreei | ENSGT00730000111282 |
HOGENOMi | CLU_068550_6_0_1 |
InParanoidi | Q9BYE0 |
OMAi | LACRHFI |
PhylomeDBi | Q9BYE0 |
TreeFami | TF351373 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR032644, HES-7 IPR036638, HLH_DNA-bd_sf IPR003650, Orange_dom |
PANTHERi | PTHR10985:SF84, PTHR10985:SF84, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit PS51054, ORANGE, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVTRDRAENR DGPKMLKPLV EKRRRDRINR SLEELRLLLL ERTRDQNLRN
60 70 80 90 100
PKLEKAEILE FAVGYLRERS RVEPPGVPRS PVQDAEALAS CYLSGFRECL
110 120 130 140 150
LRLAAFAHDA SPAARAQLFS ALHGYLRPKP PRPKPVDPRP PAPRPSLDPA
160 170 180 190 200
APALGPALHQ RPPVHQGHPS PRCAWSPSLC SPRAGDSGAP APLTGLLPPP
210 220
PPPHRQDGAP KAPLPPPPAF WRPWP
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketJ3KSH6 | J3KSH6_HUMAN | Transcription factor HES-7 | HES7 | 145 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 86 | E → K in BAB39525 (PubMed:11260262).Curated | 1 | |
Sequence conflicti | 106 | F → I in BAB39525 (PubMed:11260262).Curated | 1 | |
Sequence conflicti | 113 | A → T in BAB39525 (PubMed:11260262).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064921 | 25 | R → W in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs113994160EnsemblClinVar. | 1 | |
Natural variantiVAR_064922 | 58 | I → V in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs387906979EnsemblClinVar. | 1 | |
Natural variantiVAR_064923 | 186 | D → Y in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs387906978Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047334 | 74 | P → PPAAAA in isoform 2. Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB049064 mRNA Translation: BAB39525.1 AC129492 Genomic DNA No translation available. BC039887 mRNA No translation available. |
CCDSi | CCDS42258.1 [Q9BYE0-1] CCDS54085.1 [Q9BYE0-2] |
RefSeqi | NP_001159439.1, NM_001165967.1 [Q9BYE0-2] NP_115969.2, NM_032580.3 [Q9BYE0-1] |
Genome annotation databases
Ensembli | ENST00000317814; ENSP00000314774; ENSG00000179111 ENST00000541682; ENSP00000446205; ENSG00000179111 [Q9BYE0-2] |
GeneIDi | 84667 |
KEGGi | hsa:84667 |
MANE-Selecti | ENST00000541682.7; ENSP00000446205.2; NM_001165967.2; NP_001159439.1 [Q9BYE0-2] |
UCSCi | uc002gkb.3, human [Q9BYE0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB049064 mRNA Translation: BAB39525.1 AC129492 Genomic DNA No translation available. BC039887 mRNA No translation available. |
CCDSi | CCDS42258.1 [Q9BYE0-1] CCDS54085.1 [Q9BYE0-2] |
RefSeqi | NP_001159439.1, NM_001165967.1 [Q9BYE0-2] NP_115969.2, NM_032580.3 [Q9BYE0-1] |
3D structure databases
SMRi | Q9BYE0 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124187, 9 interactors |
ELMi | Q9BYE0 |
IntActi | Q9BYE0, 5 interactors |
STRINGi | 9606.ENSP00000446205 |
PTM databases
iPTMneti | Q9BYE0 |
PhosphoSitePlusi | Q9BYE0 |
Genetic variation databases
BioMutai | HES7 |
DMDMi | 296434525 |
Proteomic databases
MassIVEi | Q9BYE0 |
PaxDbi | Q9BYE0 |
PeptideAtlasi | Q9BYE0 |
PRIDEi | Q9BYE0 |
Protocols and materials databases
Antibodypediai | 6182, 225 antibodies from 27 providers |
DNASUi | 84667 |
Genome annotation databases
Ensembli | ENST00000317814; ENSP00000314774; ENSG00000179111 ENST00000541682; ENSP00000446205; ENSG00000179111 [Q9BYE0-2] |
GeneIDi | 84667 |
KEGGi | hsa:84667 |
MANE-Selecti | ENST00000541682.7; ENSP00000446205.2; NM_001165967.2; NP_001159439.1 [Q9BYE0-2] |
UCSCi | uc002gkb.3, human [Q9BYE0-1] |
Organism-specific databases
CTDi | 84667 |
DisGeNETi | 84667 |
GeneCardsi | HES7 |
GeneReviewsi | HES7 |
HGNCi | HGNC:15977, HES7 |
HPAi | ENSG00000179111, Tissue enhanced (brain) |
MalaCardsi | HES7 |
MIMi | 608059, gene 613686, phenotype |
neXtProti | NX_Q9BYE0 |
OpenTargetsi | ENSG00000179111 |
Orphaneti | 2311, Autosomal recessive spondylocostal dysostosis |
PharmGKBi | PA29254 |
VEuPathDBi | HostDB:ENSG00000179111 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4304, Eukaryota |
GeneTreei | ENSGT00730000111282 |
HOGENOMi | CLU_068550_6_0_1 |
InParanoidi | Q9BYE0 |
OMAi | LACRHFI |
PhylomeDBi | Q9BYE0 |
TreeFami | TF351373 |
Enzyme and pathway databases
PathwayCommonsi | Q9BYE0 |
SignaLinki | Q9BYE0 |
Miscellaneous databases
BioGRID-ORCSi | 84667, 33 hits in 1061 CRISPR screens |
GenomeRNAii | 84667 |
Pharosi | Q9BYE0, Tbio |
PROi | PR:Q9BYE0 |
RNActi | Q9BYE0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000179111, Expressed in cerebellar hemisphere and 108 other tissues |
ExpressionAtlasi | Q9BYE0, baseline and differential |
Genevisiblei | Q9BYE0, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR032644, HES-7 IPR036638, HLH_DNA-bd_sf IPR003650, Orange_dom |
PANTHERi | PTHR10985:SF84, PTHR10985:SF84, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit PS51054, ORANGE, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HES7_HUMAN | |
Accessioni | Q9BYE0Primary (citable) accession number: Q9BYE0 Secondary accession number(s): F8VPC9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 17, 2006 |
Last sequence update: | May 18, 2010 | |
Last modified: | February 23, 2022 | |
This is version 149 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot