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Q9BYE0

- HES7_HUMAN

UniProt

Q9BYE0 - HES7_HUMAN

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Protein
Transcription factor HES-7
Gene
HES7, BHLHB37
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

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

GO - Biological processi

  1. Notch signaling pathway Source: Ensembl
  2. mesoderm development Source: UniProtKB
  3. negative regulation of transcription from RNA polymerase II promoter 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: Chromosome 17

Organism-specific databases

HGNCiHGNC:15977. HES7.

Subcellular locationi

Nucleus Inferred

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) [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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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-7
PRO_0000252422Add
BLAST

Proteomic databases

PaxDbiQ9BYE0.
PRIDEiQ9BYE0.

PTM databases

PhosphoSiteiQ9BYE0.

Expressioni

Gene expression databases

ArrayExpressiQ9BYE0.
BgeeiQ9BYE0.
CleanExiHS_HES7.
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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini12 – 6958bHLH
Add
BLAST
Domaini92 – 12231Orange
Add
BLAST

Motif

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

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi128 – 22598Pro-rich
Add
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 Orange domain.

Phylogenomic databases

eggNOGiNOG293472.
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. Align

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

MVTRDRAENR DGPKMLKPLV EKRRRDRINR SLEELRLLLL ERTRDQNLRN    50
PKLEKAEILE FAVGYLRERS RVEPPGVPRS PVQDAEALAS CYLSGFRECL 100
LRLAAFAHDA SPAARAQLFS ALHGYLRPKP PRPKPVDPRP PAPRPSLDPA 150
APALGPALHQ RPPVHQGHPS PRCAWSPSLC SPRAGDSGAP APLTGLLPPP 200
PPPHRQDGAP KAPLPPPPAF WRPWP 225
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

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.
VSP_047334

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti86 – 861E → K in BAB39525. 1 Publication
Sequence conflicti106 – 1061F → I in BAB39525. 1 Publication
Sequence conflicti113 – 1131A → T in BAB39525. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.434828.

3D structure databases

ProteinModelPortali Q9BYE0.
SMRi Q9BYE0. Positions 14-73.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124187. 1 interaction.
STRINGi 9606.ENSP00000314774.

PTM databases

PhosphoSitei Q9BYE0.

Polymorphism databases

DMDMi 296434525.

Proteomic databases

PaxDbi Q9BYE0.
PRIDEi Q9BYE0.

Protocols and materials databases

DNASUi 84667.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000317814 ; ENSP00000314774 ; ENSG00000179111 . [Q9BYE0-1 ]
ENST00000541682 ; ENSP00000446205 ; ENSG00000179111 . [Q9BYE0-2 ]
GeneIDi 84667.
KEGGi hsa:84667.
UCSCi uc002gkc.3. human. [Q9BYE0-1 ]

Organism-specific databases

CTDi 84667.
GeneCardsi GC17M008060.
GeneReviewsi HES7.
H-InvDB HIX0202522.
HGNCi HGNC:15977. HES7.
MIMi 608059. gene.
613686. phenotype.
neXtProti NX_Q9BYE0.
Orphaneti 2311. Autosomal recessive spondylocostal dysostosis.
PharmGKBi PA29254.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG293472.
HOGENOMi HOG000236346.
HOVERGENi HBG096052.
InParanoidi Q9BYE0.
KOi K09087.
OMAi AFWRPWP.
PhylomeDBi Q9BYE0.
TreeFami TF351373.

Miscellaneous databases

GenomeRNAii 84667.
NextBioi 74661.
PROi Q9BYE0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BYE0.
Bgeei Q9BYE0.
CleanExi HS_HES7.
Genevestigatori Q9BYE0.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
IPR003650. Orange.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view ]
ProtoNeti Search...

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(2001) [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(2006) [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(2004) [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(2008) [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(2010) [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: July 9, 2014
This is version 100 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

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