ID HES7_HUMAN Reviewed; 225 AA.
AC Q9BYE0; F8VPC9;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 24-JAN-2024, entry version 159.
DE RecName: Full=Transcription factor HES-7;
DE Short=hHes7;
DE AltName: Full=Class B basic helix-loop-helix protein 37;
DE Short=bHLHb37;
DE AltName: Full=Hairy and enhancer of split 7;
DE AltName: Full=bHLH factor Hes7;
GN Name=HES7; Synonyms=BHLHB37;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=11260262; DOI=10.1046/j.1365-2443.2001.00409.x;
RA Bessho Y., Miyoshi G., Sakata R., Kageyama R.;
RT "Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the
RT presomitic mesoderm.";
RL Genes Cells 6:175-185(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT SCDO4 TRP-25.
RX PubMed=18775957; DOI=10.1093/hmg/ddn272;
RA Sparrow D.B., Guillen-Navarro E., Fatkin D., Dunwoodie S.L.;
RT "Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal
RT dysostosis.";
RL Hum. Mol. Genet. 17:3761-3766(2008).
RN [5]
RP VARIANTS SCDO4 VAL-58 AND TYR-186.
RX PubMed=20087400; DOI=10.1038/ejhg.2009.241;
RA Sparrow D.B., Sillence D., Wouters M.A., Turnpenny P.D., Dunwoodie S.L.;
RT "Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family
RT with spondylocostal dysostosis.";
RL Eur. J. Hum. Genet. 18:674-679(2010).
CC -!- FUNCTION: Transcriptional repressor. Represses transcription from both
CC N box- and E box-containing promoters. May with HES1, cooperatively
CC regulate somite formation in the presomitic mesoderm (PSM). May
CC function as a segmentation clock, which is essential for coordinated
CC somite segmentation (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Transcription repression requires formation of a complex with
CC a corepressor protein of the Groucho/TLE family. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9BYE0; Q8WWB5: PIH1D2; NbExp=3; IntAct=EBI-12163087, EBI-10232538;
CC Q9BYE0; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-12163087, EBI-1567797;
CC Q9BYE0; P47897: QARS1; NbExp=3; IntAct=EBI-12163087, EBI-347462;
CC Q9BYE0; Q15560: TCEA2; NbExp=3; IntAct=EBI-12163087, EBI-710310;
CC Q9BYE0; Q8N8B7-2: TCEANC; NbExp=3; IntAct=EBI-12163087, EBI-11955057;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BYE0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BYE0-2; Sequence=VSP_047334;
CC -!- DOMAIN: Has a particular type of basic domain which includes a helix-
CC interrupting proline.
CC -!- DOMAIN: The C-terminal WRPW motif is a transcriptional repression motif
CC which is necessary for interaction with Groucho/TLE family members,
CC transcriptional corepressors recruited to specific target DNA by Hairy-
CC related proteins. {ECO:0000250}.
CC -!- DISEASE: Spondylocostal dysostosis 4, autosomal recessive (SCDO4)
CC [MIM:613686]: A rare condition of variable severity characterized by
CC vertebral and costal anomalies. The main feature include dwarfism,
CC vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib
CC number, and other rib malformations. {ECO:0000269|PubMed:18775957,
CC ECO:0000269|PubMed:20087400}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AB049064; BAB39525.1; -; mRNA.
DR EMBL; AC129492; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC039887; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS42258.1; -. [Q9BYE0-1]
DR CCDS; CCDS54085.1; -. [Q9BYE0-2]
DR RefSeq; NP_001159439.1; NM_001165967.1. [Q9BYE0-2]
DR RefSeq; NP_115969.2; NM_032580.3. [Q9BYE0-1]
DR AlphaFoldDB; Q9BYE0; -.
DR SMR; Q9BYE0; -.
DR BioGRID; 124187; 9.
DR ELM; Q9BYE0; -.
DR IntAct; Q9BYE0; 5.
DR STRING; 9606.ENSP00000446205; -.
DR iPTMnet; Q9BYE0; -.
DR PhosphoSitePlus; Q9BYE0; -.
DR BioMuta; HES7; -.
DR DMDM; 296434525; -.
DR MassIVE; Q9BYE0; -.
DR PaxDb; 9606-ENSP00000446205; -.
DR PeptideAtlas; Q9BYE0; -.
DR Antibodypedia; 6182; 235 antibodies from 27 providers.
DR DNASU; 84667; -.
DR Ensembl; ENST00000317814.8; ENSP00000314774.4; ENSG00000179111.9. [Q9BYE0-1]
DR Ensembl; ENST00000541682.7; ENSP00000446205.2; ENSG00000179111.9. [Q9BYE0-2]
DR GeneID; 84667; -.
DR KEGG; hsa:84667; -.
DR MANE-Select; ENST00000541682.7; ENSP00000446205.2; NM_001165967.2; NP_001159439.1. [Q9BYE0-2]
DR UCSC; uc002gkb.3; human. [Q9BYE0-1]
DR AGR; HGNC:15977; -.
DR CTD; 84667; -.
DR DisGeNET; 84667; -.
DR GeneCards; HES7; -.
DR GeneReviews; HES7; -.
DR HGNC; HGNC:15977; HES7.
DR HPA; ENSG00000179111; Tissue enhanced (brain).
DR MalaCards; HES7; -.
DR MIM; 608059; gene.
DR MIM; 613686; phenotype.
DR neXtProt; NX_Q9BYE0; -.
DR OpenTargets; ENSG00000179111; -.
DR Orphanet; 2311; Autosomal recessive spondylocostal dysostosis.
DR PharmGKB; PA29254; -.
DR VEuPathDB; HostDB:ENSG00000179111; -.
DR eggNOG; KOG4304; Eukaryota.
DR GeneTree; ENSGT00730000111282; -.
DR HOGENOM; CLU_068550_6_0_1; -.
DR InParanoid; Q9BYE0; -.
DR OMA; ECLLRMV; -.
DR OrthoDB; 5349300at2759; -.
DR PhylomeDB; Q9BYE0; -.
DR TreeFam; TF351373; -.
DR PathwayCommons; Q9BYE0; -.
DR Reactome; R-HSA-9824272; Somitogenesis.
DR SignaLink; Q9BYE0; -.
DR BioGRID-ORCS; 84667; 36 hits in 1165 CRISPR screens.
DR GenomeRNAi; 84667; -.
DR Pharos; Q9BYE0; Tbio.
DR PRO; PR:Q9BYE0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYE0; Protein.
DR Bgee; ENSG00000179111; Expressed in cortical plate and 96 other cell types or tissues.
DR ExpressionAtlas; Q9BYE0; baseline and differential.
DR Genevisible; Q9BYE0; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; NAS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0007498; P:mesoderm development; NAS:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl.
DR GO; GO:0036342; P:post-anal tail morphogenesis; IEA:Ensembl.
DR GO; GO:0050767; P:regulation of neurogenesis; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0048511; P:rhythmic process; IEA:Ensembl.
DR GO; GO:0001501; P:skeletal system development; IEA:Ensembl.
DR GO; GO:0001756; P:somitogenesis; IEA:Ensembl.
DR CDD; cd11462; bHLH-O_HES7; 1.
DR Gene3D; 4.10.280.10; Helix-loop-helix DNA-binding domain; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR032644; HES-7_bHLH-O.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR003650; Orange_dom.
DR PANTHER; PTHR10985; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR, HES-RELATED; 1.
DR PANTHER; PTHR10985:SF84; TRANSCRIPTION FACTOR HES-7; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; HLH, helix-loop-helix DNA-binding domain; 1.
DR PROSITE; PS50888; BHLH; 1.
DR PROSITE; PS51054; ORANGE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Disease variant; DNA-binding;
KW Dwarfism; Nucleus; Reference proteome; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..225
FT /note="Transcription factor HES-7"
FT /id="PRO_0000252422"
FT DOMAIN 12..69
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT DOMAIN 92..122
FT /note="Orange"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00380"
FT REGION 125..225
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 221..224
FT /note="WRPW motif"
FT COMPBIAS 128..150
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 193..225
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 74
FT /note="P -> PPAAAA (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_047334"
FT VARIANT 25
FT /note="R -> W (in SCDO4; dbSNP:rs113994160)"
FT /evidence="ECO:0000269|PubMed:18775957"
FT /id="VAR_064921"
FT VARIANT 58
FT /note="I -> V (in SCDO4; dbSNP:rs387906979)"
FT /evidence="ECO:0000269|PubMed:20087400"
FT /id="VAR_064922"
FT VARIANT 186
FT /note="D -> Y (in SCDO4; dbSNP:rs387906978)"
FT /evidence="ECO:0000269|PubMed:20087400"
FT /id="VAR_064923"
FT CONFLICT 86
FT /note="E -> K (in Ref. 1; BAB39525)"
FT /evidence="ECO:0000305"
FT CONFLICT 106
FT /note="F -> I (in Ref. 1; BAB39525)"
FT /evidence="ECO:0000305"
FT CONFLICT 113
FT /note="A -> T (in Ref. 1; BAB39525)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 225 AA; 24899 MW; BDD4EB0D020E2EE9 CRC64;
MVTRDRAENR DGPKMLKPLV EKRRRDRINR SLEELRLLLL ERTRDQNLRN PKLEKAEILE
FAVGYLRERS RVEPPGVPRS PVQDAEALAS CYLSGFRECL LRLAAFAHDA SPAARAQLFS
ALHGYLRPKP PRPKPVDPRP PAPRPSLDPA APALGPALHQ RPPVHQGHPS PRCAWSPSLC
SPRAGDSGAP APLTGLLPPP PPPHRQDGAP KAPLPPPPAF WRPWP
//
