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Protein

Transcription factor HES-7

Gene

HES7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor HES-7
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000179111.8
HGNCiHGNC:15977 HES7
MIMi608059 gene
neXtProtiNX_Q9BYE0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Spondylocostal dysostosis 4, autosomal recessive (SCDO4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613686
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06492125R → W in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs113994160EnsemblClinVar.1
Natural variantiVAR_06492258I → V in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs387906979EnsemblClinVar.1
Natural variantiVAR_064923186D → Y in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs387906978EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi84667
GeneReviewsiHES7
MalaCardsiHES7
MIMi613686 phenotype
OpenTargetsiENSG00000179111
Orphaneti2311 Autosomal recessive spondylocostal dysostosis
PharmGKBiPA29254

Polymorphism and mutation databases

DMDMi296434525

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002524221 – 225Transcription factor HES-7Add BLAST225

Proteomic databases

PaxDbiQ9BYE0
PeptideAtlasiQ9BYE0
PRIDEiQ9BYE0
ProteomicsDBi79623

PTM databases

iPTMnetiQ9BYE0
PhosphoSitePlusiQ9BYE0

Expressioni

Gene expression databases

BgeeiENSG00000179111 Expressed in 91 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_HES7
ExpressionAtlasiQ9BYE0 baseline and differential
GenevisibleiQ9BYE0 HS

Organism-specific databases

HPAiHPA072105

Interactioni

Subunit structurei

Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.By similarity

GO - Molecular functioni

Protein-protein interaction databases

ELMiQ9BYE0
IntActiQ9BYE0, 5 interactors
STRINGi9606.ENSP00000446205

Structurei

3D structure databases

ProteinModelPortaliQ9BYE0
SMRiQ9BYE0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini12 – 69bHLHPROSITE-ProRule annotationAdd BLAST58
Domaini92 – 122OrangePROSITE-ProRule annotationAdd BLAST31

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi221 – 224WRPW motif4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi128 – 225Pro-richAdd BLAST98

Domaini

Has a particular type of basic domain which includes a helix-interrupting proline.
The C-terminal WRPW motif is a transcriptional repression motif which is necessary for interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.By similarity

Phylogenomic databases

eggNOGiENOG410KCUT Eukaryota
ENOG4112CME LUCA
GeneTreeiENSGT00730000111282
HOGENOMiHOG000236346
HOVERGENiHBG096052
InParanoidiQ9BYE0
KOiK09087
OMAiKIANMPA
OrthoDBiEOG091G0XFV
PhylomeDBiQ9BYE0
TreeFamiTF351373

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR032644 HES-7
IPR036638 HLH_DNA-bd_sf
IPR003650 Orange_dom
PANTHERiPTHR10985:SF84 PTHR10985:SF84, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS51054 ORANGE, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BYE0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:225
Mass (Da):24,899
Last modified:May 18, 2010 - v2
Checksum:iBDD4EB0D020E2EE9
GO
Isoform 2 (identifier: Q9BYE0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-74: P → PPAAAA

Show »
Length:230
Mass (Da):25,280
Checksum:i11DE937ACD4F5FCD
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KSH6J3KSH6_HUMAN
Transcription factor HES-7
HES7
145Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti86E → K in BAB39525 (PubMed:11260262).Curated1
Sequence conflicti106F → I in BAB39525 (PubMed:11260262).Curated1
Sequence conflicti113A → T in BAB39525 (PubMed:11260262).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06492125R → W in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs113994160EnsemblClinVar.1
Natural variantiVAR_06492258I → V in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs387906979EnsemblClinVar.1
Natural variantiVAR_064923186D → Y in SCDO4. 1 PublicationCorresponds to variant dbSNP:rs387906978EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04733474P → PPAAAA in isoform 2. Curated1

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.
CCDSiCCDS42258.1 [Q9BYE0-1]
CCDS54085.1 [Q9BYE0-2]
RefSeqiNP_001159439.1, NM_001165967.1 [Q9BYE0-2]
NP_115969.2, NM_032580.3 [Q9BYE0-1]
UniGeneiHs.434828

Genome annotation databases

EnsembliENST00000317814; ENSP00000314774; ENSG00000179111 [Q9BYE0-1]
ENST00000541682; ENSP00000446205; ENSG00000179111 [Q9BYE0-2]
GeneIDi84667
KEGGihsa:84667
UCSCiuc002gkb.3 human [Q9BYE0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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.
CCDSiCCDS42258.1 [Q9BYE0-1]
CCDS54085.1 [Q9BYE0-2]
RefSeqiNP_001159439.1, NM_001165967.1 [Q9BYE0-2]
NP_115969.2, NM_032580.3 [Q9BYE0-1]
UniGeneiHs.434828

3D structure databases

ProteinModelPortaliQ9BYE0
SMRiQ9BYE0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

ELMiQ9BYE0
IntActiQ9BYE0, 5 interactors
STRINGi9606.ENSP00000446205

PTM databases

iPTMnetiQ9BYE0
PhosphoSitePlusiQ9BYE0

Polymorphism and mutation databases

DMDMi296434525

Proteomic databases

PaxDbiQ9BYE0
PeptideAtlasiQ9BYE0
PRIDEiQ9BYE0
ProteomicsDBi79623

Protocols and materials databases

DNASUi84667
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317814; ENSP00000314774; ENSG00000179111 [Q9BYE0-1]
ENST00000541682; ENSP00000446205; ENSG00000179111 [Q9BYE0-2]
GeneIDi84667
KEGGihsa:84667
UCSCiuc002gkb.3 human [Q9BYE0-1]

Organism-specific databases

CTDi84667
DisGeNETi84667
EuPathDBiHostDB:ENSG00000179111.8
GeneCardsiHES7
GeneReviewsiHES7
H-InvDBiHIX0202522
HGNCiHGNC:15977 HES7
HPAiHPA072105
MalaCardsiHES7
MIMi608059 gene
613686 phenotype
neXtProtiNX_Q9BYE0
OpenTargetsiENSG00000179111
Orphaneti2311 Autosomal recessive spondylocostal dysostosis
PharmGKBiPA29254
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KCUT Eukaryota
ENOG4112CME LUCA
GeneTreeiENSGT00730000111282
HOGENOMiHOG000236346
HOVERGENiHBG096052
InParanoidiQ9BYE0
KOiK09087
OMAiKIANMPA
OrthoDBiEOG091G0XFV
PhylomeDBiQ9BYE0
TreeFamiTF351373

Miscellaneous databases

GenomeRNAii84667
PROiPR:Q9BYE0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179111 Expressed in 91 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_HES7
ExpressionAtlasiQ9BYE0 baseline and differential
GenevisibleiQ9BYE0 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR032644 HES-7
IPR036638 HLH_DNA-bd_sf
IPR003650 Orange_dom
PANTHERiPTHR10985:SF84 PTHR10985:SF84, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS51054 ORANGE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHES7_HUMAN
AccessioniPrimary (citable) accession number: Q9BYE0
Secondary accession number(s): F8VPC9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 129 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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