HELT_MOUSE
ID HELT_MOUSE Reviewed; 240 AA.
AC Q7TS99;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Hairy and enhancer of split-related protein HELT;
DE AltName: Full=HES/HEY-like transcription factor;
DE AltName: Full=Protein Hes-like;
DE AltName: Full=Protein megane;
GN Name=Helt; Synonyms=Hesl, Mgn;
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 [MRNA], FUNCTION, SELF-ASSOCIATION, INTERACTION WITH
RP HES5 AND HEY2, SUBCELLULAR LOCATION, AND DNA-BINDING.
RC STRAIN=BALB/cJ; TISSUE=Brain;
RX PubMed=14764602; DOI=10.1074/jbc.m311740200;
RA Nakatani T., Mizuhara E., Minaki Y., Sakamoto Y., Ono Y.;
RT "Helt, a novel basic-helix-loop-helix transcriptional repressor expressed
RT in the developing central nervous system.";
RL J. Biol. Chem. 279:16356-16367(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=15071116; DOI=10.1523/jneurosci.5327-03.2004;
RA Miyoshi G., Bessho Y., Yamada S., Kageyama R.;
RT "Identification of a novel basic helix-loop-helix gene, Heslike, and its
RT role in GABAergic neurogenesis.";
RL J. Neurosci. 24:3672-3682(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
RC STRAIN=129/SvJ; TISSUE=Brain;
RX PubMed=16644143; DOI=10.1016/j.gene.2006.02.026;
RA Guimera J., Vogt Weisenhorn D., Echevarria D., Martinez S., Wurst W.;
RT "Molecular characterization, structure and developmental expression of
RT Megane bHLH factor.";
RL Gene 377:65-76(2006).
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 DISRUPTION PHENOTYPE.
RX PubMed=16968817; DOI=10.1242/dev.02557;
RA Guimera J., Weisenhorn D.V., Wurst W.;
RT "Megane/Heslike is required for normal GABAergic differentiation in the
RT mouse superior colliculus.";
RL Development 133:3847-3857(2006).
RN [6]
RP FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=17611227; DOI=10.1242/dev.02870;
RA Nakatani T., Minaki Y., Kumai M., Ono Y.;
RT "Helt determines GABAergic over glutamatergic neuronal fate by repressing
RT Ngn genes in the developing mesencephalon.";
RL Development 134:2783-2793(2007).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-48, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=23576753; DOI=10.1073/pnas.1302961110;
RA Rardin M.J., Newman J.C., Held J.M., Cusack M.P., Sorensen D.J., Li B.,
RA Schilling B., Mooney S.D., Kahn C.R., Verdin E., Gibson B.W.;
RT "Label-free quantitative proteomics of the lysine acetylome in mitochondria
RT identifies substrates of SIRT3 in metabolic pathways.";
RL Proc. Natl. Acad. Sci. U.S.A. 110:6601-6606(2013).
CC -!- FUNCTION: Transcriptional repressor which binds preferentially to the
CC canonical E box sequence 5'-CACGCG-3'. Required for the development of
CC GABAergic neurons. {ECO:0000269|PubMed:14764602,
CC ECO:0000269|PubMed:15071116, ECO:0000269|PubMed:16968817,
CC ECO:0000269|PubMed:17611227}.
CC -!- SUBUNIT: Self-associates. Interacts with HES5 and HEY2.
CC {ECO:0000269|PubMed:14764602}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00380,
CC ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:14764602,
CC ECO:0000269|PubMed:16644143}.
CC -!- TISSUE SPECIFICITY: Expressed in heart and testis.
CC -!- DEVELOPMENTAL STAGE: Expressed in the progenitor domains for
CC mesencephalic GABAergic neurons. {ECO:0000269|PubMed:15071116,
CC ECO:0000269|PubMed:16644143, ECO:0000269|PubMed:16968817,
CC ECO:0000269|PubMed:17611227}.
CC -!- DISRUPTION PHENOTYPE: Death between 2 and 5 weeks of age. The
CC mesencephalic GABAergic progenitors in these animals fail to develop
CC into neurons. {ECO:0000269|PubMed:16968817}.
CC -!- SIMILARITY: Belongs to the HEY family. {ECO:0000305}.
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DR EMBL; AB120968; BAD11127.1; -; mRNA.
DR EMBL; AB098077; BAC77659.1; -; mRNA.
DR EMBL; DQ294234; ABB96784.1; -; mRNA.
DR EMBL; BC103599; AAI03600.1; -; mRNA.
DR EMBL; BC103600; AAI03601.1; -; mRNA.
DR EMBL; BC103601; AAI03602.1; -; mRNA.
DR CCDS; CCDS22290.1; -.
DR RefSeq; NP_776150.2; NM_173789.4.
DR AlphaFoldDB; Q7TS99; -.
DR SMR; Q7TS99; -.
DR BioGRID; 231505; 3.
DR STRING; 10090.ENSMUSP00000054823; -.
DR iPTMnet; Q7TS99; -.
DR PhosphoSitePlus; Q7TS99; -.
DR PaxDb; Q7TS99; -.
DR PRIDE; Q7TS99; -.
DR Antibodypedia; 28910; 99 antibodies from 19 providers.
DR DNASU; 234219; -.
DR Ensembl; ENSMUST00000058636; ENSMUSP00000054823; ENSMUSG00000047171.
DR GeneID; 234219; -.
DR KEGG; mmu:234219; -.
DR UCSC; uc009lqb.1; mouse.
DR CTD; 391723; -.
DR MGI; MGI:3040955; Helt.
DR VEuPathDB; HostDB:ENSMUSG00000047171; -.
DR eggNOG; KOG4304; Eukaryota.
DR GeneTree; ENSGT00940000160388; -.
DR HOGENOM; CLU_084227_0_0_1; -.
DR InParanoid; Q7TS99; -.
DR OMA; FAWPHGA; -.
DR OrthoDB; 1054305at2759; -.
DR PhylomeDB; Q7TS99; -.
DR TreeFam; TF323617; -.
DR BioGRID-ORCS; 234219; 3 hits in 71 CRISPR screens.
DR PRO; PR:Q7TS99; -.
DR Proteomes; UP000000589; Chromosome 8.
DR RNAct; Q7TS99; protein.
DR Bgee; ENSMUSG00000047171; Expressed in forebrain-midbrain boundary and 33 other tissues.
DR ExpressionAtlas; Q7TS99; baseline and differential.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0005667; C:transcription regulator complex; IDA:MGI.
DR GO; GO:0003677; F:DNA binding; IDA:MGI.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:MGI.
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; IDA:NTNU_SB.
DR GO; GO:0042802; F:identical protein binding; IPI:MGI.
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; IDA:NTNU_SB.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0007417; P:central nervous system development; IMP:MGI.
DR GO; GO:0097154; P:GABAergic neuron differentiation; IGI:MGI.
DR GO; GO:0021858; P:GABAergic neuron differentiation in basal ganglia; IMP:MGI.
DR GO; GO:0010467; P:gene expression; IMP:MGI.
DR GO; GO:0010259; P:multicellular organism aging; IMP:MGI.
DR GO; GO:0035264; P:multicellular organism growth; IMP:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:MGI.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IMP:MGI.
DR GO; GO:0009791; P:post-embryonic development; 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:0001967; P:suckling behavior; IMP:MGI.
DR GO; GO:0006366; P:transcription by RNA polymerase II; IMP:MGI.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR003650; Orange_dom.
DR Pfam; PF07527; Hairy_orange; 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 Acetylation; Developmental protein; Differentiation; DNA-binding;
KW Neurogenesis; Nucleus; Reference proteome; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..240
FT /note="Hairy and enhancer of split-related protein HELT"
FT /id="PRO_0000349379"
FT DOMAIN 10..65
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT DOMAIN 86..121
FT /note="Orange"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00380"
FT MOD_RES 48
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:23576753"
SQ SEQUENCE 240 AA; 26973 MW; 50B3821703D5294F CRC64;
MSDRLKERKR TPVSHKVIEK RRRDRINRCL NELGKTVPMA LAKQSSGKLE KAEILEMTVQ
YLRALHSADF PRGREKELLA EFANYFHYGY HECMKNLVHY LTTVERMETK DTKYARILAF
LQSKARLGAE PTFPPLSLPE PDFSYQLHAA SPEFPGHSPG EATMFPQGAT PGSFPWPPGA
ARSPALPYLS SATVPLPSPA QQHSPFLAPM QGLDRHYLNL IGHGHPNGLN LHTPQHPPVL
