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Protein

Transcription factor HES-7

Gene

HES7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  1. DNA binding Source: UniProtKB
  2. transcription factor binding Source: UniProtKB

GO - Biological processi

  1. mesoderm development Source: UniProtKB
  2. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  3. Notch signaling pathway Source: Ensembl
  4. post-anal tail morphogenesis Source: Ensembl
  5. regulation of somitogenesis Source: Ensembl
  6. rhythmic process Source: Ensembl
  7. skeletal system development Source: Ensembl
  8. somitogenesis Source: Ensembl
  9. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:15977. HES7.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251R → W in SCDO4. 1 Publication
VAR_064921
Natural varianti58 – 581I → V in SCDO4. 1 Publication
VAR_064922
Natural varianti186 – 1861D → Y in SCDO4. 1 Publication
VAR_064923

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi613686. phenotype.
Orphaneti2311. Autosomal recessive spondylocostal dysostosis.
PharmGKBiPA29254.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 225225Transcription factor HES-7PRO_0000252422Add
BLAST

Proteomic databases

PaxDbiQ9BYE0.
PRIDEiQ9BYE0.

PTM databases

PhosphoSiteiQ9BYE0.

Expressioni

Gene expression databases

BgeeiQ9BYE0.
CleanExiHS_HES7.
ExpressionAtlasiQ9BYE0. baseline.
GenevestigatoriQ9BYE0.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi124187. 1 interaction.
STRINGi9606.ENSP00000314774.

Structurei

3D structure databases

ProteinModelPortaliQ9BYE0.
SMRiQ9BYE0. Positions 14-73.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini12 – 6958bHLHPROSITE-ProRule annotationAdd
BLAST
Domaini92 – 12231OrangePROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi221 – 2244WRPW motif

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi128 – 22598Pro-richAdd
BLAST

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

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
Contains 1 Orange domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG293472.
GeneTreeiENSGT00730000111282.
HOGENOMiHOG000236346.
HOVERGENiHBG096052.
InParanoidiQ9BYE0.
KOiK09087.
OMAiAFWRPWP.
PhylomeDBiQ9BYE0.
TreeFamiTF351373.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti86 – 861E → K in BAB39525 (PubMed:11260262).Curated
Sequence conflicti106 – 1061F → I in BAB39525 (PubMed:11260262).Curated
Sequence conflicti113 – 1131A → T in BAB39525 (PubMed:11260262).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251R → W in SCDO4. 1 Publication
VAR_064921
Natural varianti58 – 581I → V in SCDO4. 1 Publication
VAR_064922
Natural varianti186 – 1861D → Y in SCDO4. 1 Publication
VAR_064923

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei74 – 741P → PPAAAA in isoform 2. CuratedVSP_047334

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.
UCSCiuc002gkc.3. human. [Q9BYE0-1]

Polymorphism databases

DMDMi296434525.

Keywords - Coding sequence diversityi

Alternative splicing

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. Positions 14-73.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124187. 1 interaction.
STRINGi9606.ENSP00000314774.

PTM databases

PhosphoSiteiQ9BYE0.

Polymorphism databases

DMDMi296434525.

Proteomic databases

PaxDbiQ9BYE0.
PRIDEiQ9BYE0.

Protocols and materials databases

DNASUi84667.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317814; ENSP00000314774; ENSG00000179111. [Q9BYE0-1]
ENST00000541682; ENSP00000446205; ENSG00000179111. [Q9BYE0-2]
GeneIDi84667.
KEGGihsa:84667.
UCSCiuc002gkc.3. human. [Q9BYE0-1]

Organism-specific databases

CTDi84667.
GeneCardsiGC17M008060.
GeneReviewsiHES7.
H-InvDBHIX0202522.
HGNCiHGNC:15977. HES7.
MIMi608059. gene.
613686. phenotype.
neXtProtiNX_Q9BYE0.
Orphaneti2311. Autosomal recessive spondylocostal dysostosis.
PharmGKBiPA29254.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG293472.
GeneTreeiENSGT00730000111282.
HOGENOMiHOG000236346.
HOVERGENiHBG096052.
InParanoidiQ9BYE0.
KOiK09087.
OMAiAFWRPWP.
PhylomeDBiQ9BYE0.
TreeFamiTF351373.

Miscellaneous databases

GenomeRNAii84667.
NextBioi74661.
PROiQ9BYE0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BYE0.
CleanExiHS_HES7.
ExpressionAtlasiQ9BYE0. baseline.
GenevestigatoriQ9BYE0.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm."
    Bessho Y., Miyoshi G., Sakata R., Kageyama R.
    Genes Cells 6:175-185(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. "Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis."
    Sparrow D.B., Guillen-Navarro E., Fatkin D., Dunwoodie S.L.
    Hum. Mol. Genet. 17:3761-3766(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SCDO4 TRP-25.
  5. "Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis."
    Sparrow D.B., Sillence D., Wouters M.A., Turnpenny P.D., Dunwoodie S.L.
    Eur. J. Hum. Genet. 18:674-679(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SCDO4 VAL-58 AND TYR-186.

Entry informationi

Entry nameiHES7_HUMAN
AccessioniPrimary (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: January 7, 2015
This is version 103 of the entry and version 2 of the sequence. [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 chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.