HES7_MOUSE
ID HES7_MOUSE Reviewed; 225 AA.
AC Q8BKT2; A3KPD3; Q99JA6;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Transcription factor HES-7;
DE Short=mHes7;
DE AltName: Full=Hairy and enhancer of split 7;
DE AltName: Full=bHLH factor Hes7;
GN Name=Hes7;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, DEVELOPMENTAL STAGE,
RP AND INDUCTION.
RC TISSUE=Embryo;
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 MRNA].
RC STRAIN=C57BL/6J; TISSUE=Embryo;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP FUNCTION, DEVELOPMENTAL STAGE, AND MUTAGENESIS OF LYS-14; LYS-17; LYS-22;
RP LYS-52; LYS-55; LYS-129 AND LYS-211.
RX PubMed=15170214; DOI=10.1038/ng1372;
RA Hirata H., Bessho Y., Kokubu H., Masamizu Y., Yamada S., Lewis J.,
RA Kageyama R.;
RT "Instability of Hes7 protein is crucial for the somite segmentation
RT clock.";
RL Nat. Genet. 36:750-754(2004).
RN [6]
RP FUNCTION, AND MUTAGENESIS OF ARG-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 [7]
RP MUTAGENESIS OF ILE-58 AND ASP-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. {ECO:0000269|PubMed:11260262,
CC ECO:0000269|PubMed:15170214, ECO:0000269|PubMed:18775957}.
CC -!- SUBUNIT: Transcription repression requires formation of a complex with
CC a corepressor protein of the Groucho/TLE family. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- DEVELOPMENTAL STAGE: Dynamic expression in the presomitic mesoderm
CC (PSM). At 8.5 dpc, expressed in two bilateral domains: rostral and
CC caudal stripes. The rostral bands are located posterior to the newly
CC formed somite, while the caudal bands extend to the most caudal tip.
CC During 9.0 dpc-12.0 dpc stages, again specifically expressed in two
CC domains of the PSM. {ECO:0000269|PubMed:11260262,
CC ECO:0000269|PubMed:15170214}.
CC -!- INDUCTION: By Notch-signaling. {ECO:0000269|PubMed:11260262}.
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}.
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DR EMBL; AB049065; BAB39526.1; -; mRNA.
DR EMBL; AB050104; BAB41134.1; -; Genomic_DNA.
DR EMBL; AK050791; BAC34412.1; -; mRNA.
DR EMBL; AL645527; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC134378; AAI34379.1; -; mRNA.
DR CCDS; CCDS24883.1; -.
DR RefSeq; NP_149030.2; NM_033041.4.
DR AlphaFoldDB; Q8BKT2; -.
DR SMR; Q8BKT2; -.
DR ELM; Q8BKT2; -.
DR STRING; 10090.ENSMUSP00000024543; -.
DR iPTMnet; Q8BKT2; -.
DR PhosphoSitePlus; Q8BKT2; -.
DR PaxDb; Q8BKT2; -.
DR PRIDE; Q8BKT2; -.
DR Antibodypedia; 6182; 226 antibodies from 27 providers.
DR DNASU; 84653; -.
DR Ensembl; ENSMUST00000024543; ENSMUSP00000024543; ENSMUSG00000023781.
DR GeneID; 84653; -.
DR KEGG; mmu:84653; -.
DR UCSC; uc007jpi.1; mouse.
DR CTD; 84667; -.
DR MGI; MGI:2135679; Hes7.
DR VEuPathDB; HostDB:ENSMUSG00000023781; -.
DR eggNOG; KOG4304; Eukaryota.
DR GeneTree; ENSGT00730000111282; -.
DR HOGENOM; CLU_068550_6_0_1; -.
DR InParanoid; Q8BKT2; -.
DR OMA; CSTPCHD; -.
DR OrthoDB; 1172143at2759; -.
DR PhylomeDB; Q8BKT2; -.
DR TreeFam; TF351373; -.
DR BioGRID-ORCS; 84653; 4 hits in 75 CRISPR screens.
DR PRO; PR:Q8BKT2; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q8BKT2; protein.
DR Bgee; ENSMUSG00000023781; Expressed in paraxial mesoderm and 55 other tissues.
DR Genevisible; Q8BKT2; MM.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IC: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:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:MGI.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0007219; P:Notch signaling pathway; IDA:MGI.
DR GO; GO:0036342; P:post-anal tail morphogenesis; IMP:MGI.
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; IDA:MGI.
DR GO; GO:0001501; P:skeletal system development; IMP:MGI.
DR GO; GO:0001756; P:somitogenesis; IMP:MGI.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR032644; HES-7.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR003650; Orange_dom.
DR PANTHER; PTHR10985:SF84; PTHR10985:SF84; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
DR PROSITE; PS51054; ORANGE; 1.
PE 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..225
FT /note="Transcription factor HES-7"
FT /id="PRO_0000252423"
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 124..225
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 221..224
FT /note="WRPW motif"
FT COMPBIAS 134..152
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 MUTAGEN 14
FT /note="K->R: No loss of repressor activity, somite
FT segmentation disrupted at later stages."
FT /evidence="ECO:0000269|PubMed:15170214"
FT MUTAGEN 17
FT /note="K->R: Loss of repressor activity."
FT /evidence="ECO:0000269|PubMed:15170214"
FT MUTAGEN 22
FT /note="K->R: Loss of repressor activity."
FT /evidence="ECO:0000269|PubMed:15170214"
FT MUTAGEN 25
FT /note="R->W: Loss of repressor activity."
FT /evidence="ECO:0000269|PubMed:18775957"
FT MUTAGEN 52
FT /note="K->R: Loss of repressor activity."
FT /evidence="ECO:0000269|PubMed:15170214"
FT MUTAGEN 55
FT /note="K->R: Loss of repressor activity."
FT /evidence="ECO:0000269|PubMed:15170214"
FT MUTAGEN 58
FT /note="I->V: No loss of repressor activity."
FT /evidence="ECO:0000269|PubMed:20087400"
FT MUTAGEN 129
FT /note="K->R: No loss of repressor activity."
FT /evidence="ECO:0000269|PubMed:15170214"
FT MUTAGEN 186
FT /note="D->Y: Partial loss of repressor activity."
FT /evidence="ECO:0000269|PubMed:20087400"
FT MUTAGEN 211
FT /note="K->R: No loss of repressor activity."
FT /evidence="ECO:0000269|PubMed:15170214"
FT CONFLICT 214
FT /note="S -> P (in Ref. 1; BAB39526/BAB41134 and 4;
FT AAI34379)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 225 AA; 24890 MW; 4B22E7D71A7FF5E8 CRC64;
MVTRERAENR DGPKMLKPLV EKRRRDRINR SLEELRLLLL ERTRDQNLRN PKLEKAEILE
FAVGYLRERS RVEPPGVPRS PGQDAEALAS CYLSGFRECL LRLAAFAHDA SPAARSQLFS
ALHGYRRPKP PRPEAVDPGL PAPRPPLDPA SPILGPALHQ RPPVHQGPPS PRLAWSPSHC
SSRAGDSGAP APLTGLLPPP PPPYRQDGAP KAPSLPPPAF WRPWP
