HEY1_HUMAN
ID HEY1_HUMAN Reviewed; 304 AA.
AC Q9Y5J3; B2R883; Q5TZS3; Q8NAM2; Q9NYP4;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 199.
DE RecName: Full=Hairy/enhancer-of-split related with YRPW motif protein 1;
DE AltName: Full=Cardiovascular helix-loop-helix factor 2;
DE Short=CHF-2;
DE AltName: Full=Class B basic helix-loop-helix protein 31;
DE Short=bHLHb31;
DE AltName: Full=HES-related repressor protein 1;
DE AltName: Full=Hairy and enhancer of split-related protein 1;
DE Short=HESR-1;
DE AltName: Full=Hairy-related transcription factor 1;
DE Short=HRT-1;
DE Short=hHRT1;
GN Name=HEY1; Synonyms=BHLHB31, CHF2, HERP2, HESR1, HRT1;
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).
RC TISSUE=Brain;
RX PubMed=10403790; DOI=10.1006/bbrc.1999.0880;
RA Kokubo H., Lun Y., Johnson R.L.;
RT "Identification and expression of a novel family of bHLH cDNAs related to
RT Drosophila hairy and enhancer of split.";
RL Biochem. Biophys. Res. Commun. 260:459-465(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=10415358; DOI=10.1016/s0925-4773(99)00080-5;
RA Leimeister C., Externbrinck A., Klamt B., Gessler M.;
RT "Hey genes: a novel subfamily of hairy- and enhancer of split related genes
RT specifically expressed during mouse embryogenesis.";
RL Mech. Dev. 85:173-177(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=10860664; DOI=10.1006/geno.2000.6200;
RA Steidl C., Leimeister C., Klamt B., Maier M., Nanda I., Dixon M.,
RA Clarke R., Schmid M., Gessler M.;
RT "Characterization of the human and mouse HEY1, HEY2, and HEYL genes:
RT cloning, mapping, and mutation screening of a new bHLH gene family.";
RL Genomics 66:195-203(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=10692439; DOI=10.1074/jbc.275.9.6381;
RA Chin M.T., Maemura K., Fukumoto S., Jain M.K., Layne M.D., Watanabe M.,
RA Hsieh C.-M., Lee M.-E.;
RT "Cardiovascular basic helix loop helix factor 1, a novel transcriptional
RT repressor expressed preferentially in the developing and adult
RT cardiovascular system.";
RL J. Biol. Chem. 275:6381-6387(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Iso T., Sartorelli V., Poizat C., Chen T., Sucov H.M., Chung G., Wu H.-Y.,
RA Kedes L., Hamamori Y.;
RT "The HERP repressors, novel partners for HES/hairy in notch signaling.";
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND DNA-BINDING.
RX PubMed=11095750; DOI=10.1073/pnas.250485597;
RA Nakagawa O., McFadden D.G., Nakagawa M., Yanagisawa H., Hu T.,
RA Srivastava D., Olson E.N.;
RT "Members of the HRT family of basic helix-loop-helix proteins act as
RT transcriptional repressors downstream of Notch signaling.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:13655-13660(2000).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
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 [12]
RP FUNCTION.
RX PubMed=15485867; DOI=10.1074/jbc.m409879200;
RA Kathiriya I.S., King I.N., Murakami M., Nakagawa M., Astle J.M.,
RA Gardner K.A., Gerard R.D., Olson E.N., Srivastava D., Nakagawa O.;
RT "Hairy-related transcription factors inhibit GATA-dependent cardiac gene
RT expression through a signal-responsive mechanism.";
RL J. Biol. Chem. 279:54937-54943(2004).
RN [13]
RP FUNCTION.
RX PubMed=25985737; DOI=10.1038/ncomms8122;
RA Zhu P., Wang Y., Du Y., He L., Huang G., Zhang G., Yan X., Fan Z.;
RT "C8orf4 negatively regulates self-renewal of liver cancer stem cells via
RT suppression of NOTCH2 signalling.";
RL Nat. Commun. 6:7122-7122(2015).
RN [14]
RP X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 111-167.
RG RIKEN structural genomics initiative (RSGI);
RT "Crystal structure of hypothetical protein MS0332.";
RL Submitted (FEB-2009) to the PDB data bank.
CC -!- FUNCTION: Transcriptional repressor which binds preferentially to the
CC canonical E box sequence 5'-CACGTG-3' (PubMed:11095750). Downstream
CC effector of Notch signaling required for cardiovascular development.
CC Specifically required for the Notch-induced endocardial epithelial to
CC mesenchymal transition, which is itself criticial for cardiac valve and
CC septum development. May be required in conjunction with HEY2 to specify
CC arterial cell fate or identity. Promotes maintenance of neuronal
CC precursor cells and glial versus neuronal fate specification. Represses
CC transcription by the cardiac transcriptional activators GATA4 and GATA6
CC and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3
CC (PubMed:15485867). Involved in the regulation of liver cancer cells
CC self-renewal (PubMed:25985737). {ECO:0000250|UniProtKB:Q9WV93,
CC ECO:0000269|PubMed:11095750, ECO:0000269|PubMed:15485867,
CC ECO:0000269|PubMed:25985737}.
CC -!- SUBUNIT: Self-associates. Interacts with HES1 and HEYL. Interacts with
CC HDAC1, NCOR1 and SIN3A. Interacts with GATA4 and GATA6. Interacts with
CC CCDC89/BOIP. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9Y5J3; Q15038: DAZAP2; NbExp=3; IntAct=EBI-7231130, EBI-724310;
CC Q9Y5J3; O75593: FOXH1; NbExp=3; IntAct=EBI-7231130, EBI-1759806;
CC Q9Y5J3; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-7231130, EBI-11962084;
CC Q9Y5J3; Q99697-2: PITX2; NbExp=3; IntAct=EBI-7231130, EBI-12138495;
CC Q9Y5J3; Q96CS7: PLEKHB2; NbExp=3; IntAct=EBI-7231130, EBI-373552;
CC Q9Y5J3; Q8NEK8: TENT5D; NbExp=3; IntAct=EBI-7231130, EBI-744726;
CC Q9Y5J3; Q9BYJ9: YTHDF1; NbExp=3; IntAct=EBI-7231130, EBI-1051237;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00380,
CC ECO:0000255|PROSITE-ProRule:PRU00981}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y5J3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5J3-2; Sequence=VSP_040997;
CC -!- TISSUE SPECIFICITY: Expressed in the somitic mesoderm, the central
CC nervous system, the kidney, the heart, nasal epithelium, and limbs.
CC -!- SIMILARITY: Belongs to the HEY family. {ECO:0000305}.
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DR EMBL; AF151522; AAD38967.1; -; mRNA.
DR EMBL; AF176422; AAD51749.1; -; mRNA.
DR EMBL; AJ272214; CAB75715.1; -; mRNA.
DR EMBL; AF232239; AAF37297.1; -; mRNA.
DR EMBL; AF311883; AAG31156.1; -; mRNA.
DR EMBL; BT020065; AAV38868.1; -; mRNA.
DR EMBL; AK092437; BAC03890.1; -; mRNA.
DR EMBL; AK313271; BAG36080.1; -; mRNA.
DR EMBL; AC016240; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471068; EAW87066.1; -; Genomic_DNA.
DR EMBL; BC001873; AAH01873.1; -; mRNA.
DR CCDS; CCDS43749.1; -. [Q9Y5J3-2]
DR CCDS; CCDS6225.1; -. [Q9Y5J3-1]
DR RefSeq; NP_001035798.1; NM_001040708.1. [Q9Y5J3-2]
DR RefSeq; NP_001269780.1; NM_001282851.1.
DR RefSeq; NP_036390.3; NM_012258.3. [Q9Y5J3-1]
DR PDB; 2DB7; X-ray; 1.90 A; A/B=111-167.
DR PDBsum; 2DB7; -.
DR AlphaFoldDB; Q9Y5J3; -.
DR SMR; Q9Y5J3; -.
DR BioGRID; 117025; 136.
DR ELM; Q9Y5J3; -.
DR IntAct; Q9Y5J3; 14.
DR MINT; Q9Y5J3; -.
DR STRING; 9606.ENSP00000338272; -.
DR TCDB; 3.A.16.1.4; the endoplasmic reticular retrotranslocon (er-rt) family.
DR iPTMnet; Q9Y5J3; -.
DR PhosphoSitePlus; Q9Y5J3; -.
DR BioMuta; HEY1; -.
DR DMDM; 13124298; -.
DR MassIVE; Q9Y5J3; -.
DR MaxQB; Q9Y5J3; -.
DR PaxDb; Q9Y5J3; -.
DR PeptideAtlas; Q9Y5J3; -.
DR PRIDE; Q9Y5J3; -.
DR ProteomicsDB; 86418; -. [Q9Y5J3-1]
DR ProteomicsDB; 86419; -. [Q9Y5J3-2]
DR Antibodypedia; 12406; 442 antibodies from 32 providers.
DR DNASU; 23462; -.
DR Ensembl; ENST00000337919.9; ENSP00000338272.5; ENSG00000164683.18. [Q9Y5J3-2]
DR Ensembl; ENST00000354724.8; ENSP00000346761.3; ENSG00000164683.18. [Q9Y5J3-1]
DR GeneID; 23462; -.
DR KEGG; hsa:23462; -.
DR MANE-Select; ENST00000354724.8; ENSP00000346761.3; NM_012258.4; NP_036390.3.
DR UCSC; uc003ybl.4; human. [Q9Y5J3-1]
DR CTD; 23462; -.
DR DisGeNET; 23462; -.
DR GeneCards; HEY1; -.
DR HGNC; HGNC:4880; HEY1.
DR HPA; ENSG00000164683; Low tissue specificity.
DR MIM; 602953; gene.
DR neXtProt; NX_Q9Y5J3; -.
DR OpenTargets; ENSG00000164683; -.
DR PharmGKB; PA29258; -.
DR VEuPathDB; HostDB:ENSG00000164683; -.
DR eggNOG; KOG4304; Eukaryota.
DR GeneTree; ENSGT00940000157068; -.
DR HOGENOM; CLU_048294_2_0_1; -.
DR InParanoid; Q9Y5J3; -.
DR OMA; EPHHQSR; -.
DR OrthoDB; 1201152at2759; -.
DR PhylomeDB; Q9Y5J3; -.
DR TreeFam; TF323617; -.
DR PathwayCommons; Q9Y5J3; -.
DR Reactome; R-HSA-2122947; NOTCH1 Intracellular Domain Regulates Transcription.
DR Reactome; R-HSA-2644606; Constitutive Signaling by NOTCH1 PEST Domain Mutants.
DR Reactome; R-HSA-2894862; Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
DR Reactome; R-HSA-8940973; RUNX2 regulates osteoblast differentiation.
DR Reactome; R-HSA-9013508; NOTCH3 Intracellular Domain Regulates Transcription.
DR Reactome; R-HSA-9013695; NOTCH4 Intracellular Domain Regulates Transcription.
DR SignaLink; Q9Y5J3; -.
DR SIGNOR; Q9Y5J3; -.
DR BioGRID-ORCS; 23462; 10 hits in 1098 CRISPR screens.
DR ChiTaRS; HEY1; human.
DR EvolutionaryTrace; Q9Y5J3; -.
DR GeneWiki; HEY1; -.
DR GenomeRNAi; 23462; -.
DR Pharos; Q9Y5J3; Tbio.
DR PRO; PR:Q9Y5J3; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9Y5J3; protein.
DR Bgee; ENSG00000164683; Expressed in endothelial cell and 206 other tissues.
DR ExpressionAtlas; Q9Y5J3; baseline and differential.
DR Genevisible; Q9Y5J3; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:UniProtKB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; ISS:UniProtKB.
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:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IPI:BHF-UCL.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0001525; P:angiogenesis; IEP:UniProtKB.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0003180; P:aortic valve morphogenesis; ISS:BHF-UCL.
DR GO; GO:0060842; P:arterial endothelial cell differentiation; ISS:BHF-UCL.
DR GO; GO:0003190; P:atrioventricular valve formation; ISS:BHF-UCL.
DR GO; GO:0003161; P:cardiac conduction system development; NAS:BHF-UCL.
DR GO; GO:0060317; P:cardiac epithelial to mesenchymal transition; ISS:BHF-UCL.
DR GO; GO:0060411; P:cardiac septum morphogenesis; ISS:BHF-UCL.
DR GO; GO:0003208; P:cardiac ventricle morphogenesis; ISS:BHF-UCL.
DR GO; GO:0072359; P:circulatory system development; IBA:GO_Central.
DR GO; GO:0035912; P:dorsal aorta morphogenesis; ISS:BHF-UCL.
DR GO; GO:0003203; P:endocardial cushion morphogenesis; ISS:BHF-UCL.
DR GO; GO:0060347; P:heart trabecula formation; ISS:BHF-UCL.
DR GO; GO:0060716; P:labyrinthine layer blood vessel development; ISS:BHF-UCL.
DR GO; GO:0070168; P:negative regulation of biomineral tissue development; ISS:BHF-UCL.
DR GO; GO:0045665; P:negative regulation of neuron differentiation; IBA:GO_Central.
DR GO; GO:0045746; P:negative regulation of Notch signaling pathway; IDA:BHF-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:2000820; P:negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; IDA:BHF-UCL.
DR GO; GO:2000678; P:negative regulation of transcription regulatory region DNA binding; IDA:BHF-UCL.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0061314; P:Notch signaling involved in heart development; IC:BHF-UCL.
DR GO; GO:0007219; P:Notch signaling pathway; IDA:UniProtKB.
DR GO; GO:0010628; P:positive regulation of gene expression; ISS:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0003184; P:pulmonary valve morphogenesis; ISS:BHF-UCL.
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:2001212; P:regulation of vasculogenesis; ISS:BHF-UCL.
DR GO; GO:0036304; P:umbilical cord morphogenesis; ISS:BHF-UCL.
DR GO; GO:0060412; P:ventricular septum morphogenesis; ISS:BHF-UCL.
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 SMART; SM00511; ORANGE; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
DR PROSITE; PS51054; ORANGE; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Developmental protein; DNA-binding;
KW Notch signaling pathway; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..304
FT /note="Hairy/enhancer-of-split related with YRPW motif
FT protein 1"
FT /id="PRO_0000127217"
FT DOMAIN 49..104
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT DOMAIN 122..158
FT /note="Orange"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00380"
FT REGION 1..52
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 48..117
FT /note="Transcriptional repression and interaction with
FT NCOR1 and SIN3A"
FT /evidence="ECO:0000250"
FT REGION 196..234
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 294..297
FT /note="YRPW motif"
FT COMPBIAS 28..49
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 200..214
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 82
FT /note="K -> KQVME (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040997"
FT CONFLICT 237
FT /note="L -> F (in Ref. 5; AAF37297)"
FT /evidence="ECO:0000305"
FT CONFLICT 237
FT /note="L -> P (in Ref. 8; BAC03890)"
FT /evidence="ECO:0000305"
FT CONFLICT 252
FT /note="P -> L (in Ref. 5; AAF37297)"
FT /evidence="ECO:0000305"
FT HELIX 115..120
FT /evidence="ECO:0007829|PDB:2DB7"
FT HELIX 122..140
FT /evidence="ECO:0007829|PDB:2DB7"
FT HELIX 149..164
FT /evidence="ECO:0007829|PDB:2DB7"
SQ SEQUENCE 304 AA; 32613 MW; F130991A99E9CA54 CRC64;
MKRAHPEYSS SDSELDETIE VEKESADENG NLSSALGSMS PTTSSQILAR KRRRGIIEKR
RRDRINNSLS ELRRLVPSAF EKQGSAKLEK AEILQMTVDH LKMLHTAGGK GYFDAHALAM
DYRSLGFREC LAEVARYLSI IEGLDASDPL RVRLVSHLNN YASQREAASG AHAGLGHIPW
GTVFGHHPHI AHPLLLPQNG HGNAGTTASP TEPHHQGRLG SAHPEAPALR APPSGSLGPV
LPVVTSASKL SPPLLSSVAS LSAFPFSFGS FHLLSPNALS PSAPTQAANL GKPYRPWGTE
IGAF
