Q9BYE0 (HES7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	HES7
Synonyms:	BHLHB37

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	225 AA.
Sequence status	Complete.
Protein existence	Evidence 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 (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. Ref.3 Ref.4
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 Orange domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Disease	Disease mutation Dwarfism
Ligand	DNA-binding
Molecular function	Developmental protein Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mesoderm development Non-traceable author statement Ref.1. Source: UniProtKB multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	DNA binding Non-traceable author statement Ref.1. Source: UniProtKB transcription factor binding Non-traceable author statement PubMed 17611704. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 225	225	Transcription factor HES-7		PRO_0000252422
Regions
	Domain	12 – 69	58	bHLH
	Domain	92 – 122	31	Orange
	Motif	221 – 224	4	WRPW motif
	Compositional bias	128 – 225	98	Pro-rich
Natural variations
	Natural variant	25	1	R → W in SCDO4. Ref.3		VAR_064921
	Natural variant	58	1	I → V in SCDO4. Ref.4		VAR_064922
	Natural variant	186	1	D → Y in SCDO4. Ref.4		VAR_064923
Experimental info
	Sequence conflict	86	1	E → K in BAB39525. Ref.1
	Sequence conflict	106	1	F → I in BAB39525. Ref.1
	Sequence conflict	113	1	A → T in BAB39525. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9BYE0 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: BDD4EB0D020E2EE9	FASTA	225	24,899
	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

References

	« Hide 'large scale' referencesShow '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].
[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]	"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.
[4]	"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.
IPI	IPI00000284.
RefSeq	NP_115969.2. NM_032580.3.
UniGene	Hs.434828.
3D structure databases
ProteinModelPortal	Q9BYE0.
SMR	Q9BYE0. Positions 13-74.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000314774.
PTM databases
PhosphoSite	Q9BYE0.
Polymorphism databases
DMDM	296434525.
Proteomic databases
PaxDb	Q9BYE0.
PRIDE	Q9BYE0.
Protocols and materials databases
DNASU	84667.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000317814; ENSP00000314774; ENSG00000179111.
GeneID	84667.
KEGG	hsa:84667.
UCSC	uc002gkc.3. human.
Organism-specific databases
CTD	84667.
GeneCards	GC17M008056.
H-InvDB	HIX0202522.
HGNC	HGNC:15977. HES7.
MIM	608059. gene. 613686. phenotype.
neXtProt	NX_Q9BYE0.
Orphanet	2311. Autosomal recessive spondylocostal dysostosis.
PharmGKB	PA29254.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG293472.
HOGENOM	HOG000236346.
HOVERGEN	HBG096052.
InParanoid	Q9BYE0.
KO	K09087.
OrthoDB	EOG415GFM.
PhylomeDB	Q9BYE0.
Gene expression databases
ArrayExpress	Q9BYE0.
Bgee	Q9BYE0.
CleanEx	HS_HES7.
Genevestigator	Q9BYE0.
GermOnline	ENSG00000179111. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. IPR003650. Orange. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. PS51054. ORANGE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	84667.
NextBio	74661.
SOURCE	Search...

Entry information

Entry name

HES7_HUMAN

Accession

Primary (citable) accession number: Q9BYE0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 17, 2006
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 89 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.