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Q9BYE0 (HES7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:HES7
Synonyms:BHLHB37
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length225 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Nucleus Probable.

Domain

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.

Involvement in disease

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.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Contains 1 Orange domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BYE0-1)

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.
Isoform 2 (identifier: Q9BYE0-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 225225Transcription factor HES-7
PRO_0000252422

Regions

Domain12 – 6958bHLH
Domain92 – 12231Orange
Motif221 – 2244WRPW motif
Compositional bias128 – 22598Pro-rich

Natural variations

Alternative sequence741P → PPAAAA in isoform 2.
VSP_047334
Natural variant251R → W in SCDO4. Ref.4
VAR_064921
Natural variant581I → V in SCDO4. Ref.5
VAR_064922
Natural variant1861D → Y in SCDO4. Ref.5
VAR_064923

Experimental info

Sequence conflict861E → K in BAB39525. Ref.1
Sequence conflict1061F → I in BAB39525. Ref.1
Sequence conflict1131A → T in BAB39525. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: BDD4EB0D020E2EE9

FASTA22524,899
        10         20         30         40         50         60 
MVTRDRAENR DGPKMLKPLV EKRRRDRINR SLEELRLLLL ERTRDQNLRN PKLEKAEILE 

        70         80         90        100        110        120 
FAVGYLRERS RVEPPGVPRS PVQDAEALAS CYLSGFRECL LRLAAFAHDA SPAARAQLFS 

       130        140        150        160        170        180 
ALHGYLRPKP PRPKPVDPRP PAPRPSLDPA APALGPALHQ RPPVHQGHPS PRCAWSPSLC 

       190        200        210        220 
SPRAGDSGAP APLTGLLPPP PPPHRQDGAP KAPLPPPPAF WRPWP 

« Hide

Isoform 2 [UniParc].

Checksum: 11DE937ACD4F5FCD
Show »

FASTA23025,280

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB049064 mRNA. Translation: BAB39525.1.
AC129492 Genomic DNA. No translation available.
BC039887 mRNA. No translation available.
RefSeqNP_001159439.1. NM_001165967.1.
NP_115969.2. NM_032580.3.
UniGeneHs.434828.

3D structure databases

ProteinModelPortalQ9BYE0.
SMRQ9BYE0. Positions 17-74, 81-129.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124187. 1 interaction.
STRING9606.ENSP00000314774.

PTM databases

PhosphoSiteQ9BYE0.

Polymorphism databases

DMDM296434525.

Proteomic databases

PaxDbQ9BYE0.
PRIDEQ9BYE0.

Protocols and materials databases

DNASU84667.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317814; ENSP00000314774; ENSG00000179111. [Q9BYE0-1]
ENST00000541682; ENSP00000446205; ENSG00000179111. [Q9BYE0-2]
GeneID84667.
KEGGhsa:84667.
UCSCuc002gkc.3. human. [Q9BYE0-1]

Organism-specific databases

CTD84667.
GeneCardsGC17M008060.
H-InvDBHIX0202522.
HGNCHGNC:15977. HES7.
MIM608059. gene.
613686. phenotype.
neXtProtNX_Q9BYE0.
Orphanet2311. Autosomal recessive spondylocostal dysostosis.
PharmGKBPA29254.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293472.
HOGENOMHOG000236346.
HOVERGENHBG096052.
InParanoidQ9BYE0.
KOK09087.
OMAAFWRPWP.
PhylomeDBQ9BYE0.
TreeFamTF351373.

Gene expression databases

ArrayExpressQ9BYE0.
BgeeQ9BYE0.
CleanExHS_HES7.
GenevestigatorQ9BYE0.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR003650. Orange.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84667.
NextBio74661.
PROQ9BYE0.
SOURCESearch...

Entry information

Entry nameHES7_HUMAN
AccessionPrimary (citable) accession number: Q9BYE0
Secondary accession number(s): F8VPC9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM