ATOH1_HUMAN
ID ATOH1_HUMAN Reviewed; 354 AA.
AC Q92858; Q14CT9;
DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1997, sequence version 1.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Transcription factor ATOH1 {ECO:0000305};
DE AltName: Full=Atonal bHLH transcription factor 1 {ECO:0000312|HGNC:HGNC:797};
DE AltName: Full=Class A basic helix-loop-helix protein 14 {ECO:0000312|HGNC:HGNC:797};
DE Short=bHLHa14 {ECO:0000312|HGNC:HGNC:797};
DE AltName: Full=Helix-loop-helix protein hATH-1 {ECO:0000312|HGNC:HGNC:797};
DE Short=hATH1 {ECO:0000312|HGNC:HGNC:797};
DE AltName: Full=Protein atonal homolog 1 {ECO:0000312|HGNC:HGNC:797};
GN Name=ATOH1 {ECO:0000312|HGNC:HGNC:797}; Synonyms=ATH1, BHLHA14;
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 [GENOMIC DNA].
RX PubMed=8872459; DOI=10.1093/hmg/5.9.1207;
RA Ben-Arie N., McCall A.E., Berkman S., Eichele G., Bellen H.J., Zoghbi H.Y.;
RT "Evolutionary conservation of sequence and expression of the bHLH protein
RT Atonal suggests a conserved role in neurogenesis.";
RL Hum. Mol. Genet. 5:1207-1216(1996).
RN [2]
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).
CC -!- FUNCTION: Transcriptional regulator. Activates E box-dependent
CC transcription in collaboration with TCF3/E47, but the activity is
CC completely antagonized by the negative regulator of neurogenesis HES1.
CC Plays a role in the differentiation of subsets of neural cells by
CC activating E box-dependent transcription (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
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DR EMBL; U61148; AAB41305.1; -; Genomic_DNA.
DR EMBL; BC069145; AAH69145.1; -; mRNA.
DR EMBL; BC069594; AAH69594.1; -; mRNA.
DR EMBL; BC069604; AAH69604.1; -; mRNA.
DR EMBL; BC113623; AAI13624.1; -; mRNA.
DR EMBL; BC113625; AAI13626.1; -; mRNA.
DR CCDS; CCDS3638.1; -.
DR RefSeq; NP_005163.1; NM_005172.1.
DR AlphaFoldDB; Q92858; -.
DR SMR; Q92858; -.
DR BioGRID; 106964; 77.
DR STRING; 9606.ENSP00000302216; -.
DR iPTMnet; Q92858; -.
DR PhosphoSitePlus; Q92858; -.
DR BioMuta; ATOH1; -.
DR DMDM; 3913115; -.
DR jPOST; Q92858; -.
DR MassIVE; Q92858; -.
DR PaxDb; Q92858; -.
DR PeptideAtlas; Q92858; -.
DR PRIDE; Q92858; -.
DR ProteomicsDB; 75551; -.
DR Antibodypedia; 25709; 568 antibodies from 32 providers.
DR DNASU; 474; -.
DR Ensembl; ENST00000306011.6; ENSP00000302216.4; ENSG00000172238.6.
DR GeneID; 474; -.
DR KEGG; hsa:474; -.
DR MANE-Select; ENST00000306011.6; ENSP00000302216.4; NM_005172.2; NP_005163.1.
DR UCSC; uc003hta.2; human.
DR CTD; 474; -.
DR DisGeNET; 474; -.
DR GeneCards; ATOH1; -.
DR HGNC; HGNC:797; ATOH1.
DR HPA; ENSG00000172238; Tissue enriched (intestine).
DR MIM; 601461; gene.
DR neXtProt; NX_Q92858; -.
DR OpenTargets; ENSG00000172238; -.
DR PharmGKB; PA25095; -.
DR VEuPathDB; HostDB:ENSG00000172238; -.
DR eggNOG; KOG4395; Eukaryota.
DR GeneTree; ENSGT00940000160064; -.
DR HOGENOM; CLU_083039_0_0_1; -.
DR InParanoid; Q92858; -.
DR OMA; AKEMCEM; -.
DR OrthoDB; 926106at2759; -.
DR PhylomeDB; Q92858; -.
DR TreeFam; TF315153; -.
DR PathwayCommons; Q92858; -.
DR SignaLink; Q92858; -.
DR SIGNOR; Q92858; -.
DR BioGRID-ORCS; 474; 20 hits in 1083 CRISPR screens.
DR GeneWiki; ATOH1; -.
DR GenomeRNAi; 474; -.
DR Pharos; Q92858; Tbio.
DR PRO; PR:Q92858; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q92858; protein.
DR Bgee; ENSG00000172238; Expressed in mucosa of transverse colon and 18 other tissues.
DR Genevisible; Q92858; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0031490; F:chromatin DNA binding; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
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:0042668; P:auditory receptor cell fate determination; IEA:Ensembl.
DR GO; GO:0042667; P:auditory receptor cell fate specification; IEA:Ensembl.
DR GO; GO:0007411; P:axon guidance; IEA:Ensembl.
DR GO; GO:0007417; P:central nervous system development; TAS:ProtInc.
DR GO; GO:0021987; P:cerebral cortex development; IEA:Ensembl.
DR GO; GO:1904019; P:epithelial cell apoptotic process; IEA:Ensembl.
DR GO; GO:0042472; P:inner ear morphogenesis; IEA:Ensembl.
DR GO; GO:1904036; P:negative regulation of epithelial cell apoptotic process; IEA:Ensembl.
DR GO; GO:0014014; P:negative regulation of gliogenesis; IEA:Ensembl.
DR GO; GO:0097402; P:neuroblast migration; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0001764; P:neuron migration; IEA:Ensembl.
DR GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl.
DR GO; GO:0045609; P:positive regulation of inner ear auditory receptor cell differentiation; IEA:Ensembl.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006366; P:transcription by RNA polymerase II; TAS:ProtInc.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR032661; ATOH1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR PANTHER; PTHR19290:SF82; PTHR19290:SF82; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 2: Evidence at transcript level;
KW Activator; Developmental protein; Differentiation; DNA-binding;
KW Neurogenesis; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..354
FT /note="Transcription factor ATOH1"
FT /id="PRO_0000127139"
FT DOMAIN 159..211
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 1..55
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 91..122
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 216..277
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 312..354
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..25
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 26..41
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 253..271
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 312..328
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 329..354
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 237
FT /note="H -> Q (in dbSNP:rs35182771)"
FT /id="VAR_049539"
SQ SEQUENCE 354 AA; 38160 MW; AB12F1E917A00A8D CRC64;
MSRLLHAEEW AEVKELGDHH RQPQPHHLPQ PPPPPQPPAT LQAREHPVYP PELSLLDSTD
PRAWLAPTLQ GICTARAAQY LLHSPELGAS EAAAPRDEVD GRGELVRRSS GGASSSKSPG
PVKVREQLCK LKGGVVVDEL GCSRQRAPSS KQVNGVQKQR RLAANARERR RMHGLNHAFD
QLRNVIPSFN NDKKLSKYET LQMAQIYINA LSELLQTPSG GEQPPPPPAS CKSDHHHLRT
AASYEGGAGN ATAAGAQQAS GGSQRPTPPG SCRTRFSAPA SAGGYSVQLD ALHFSTFEDS
ALTAMMAQKN LSPSLPGSIL QPVQEENSKT SPRSHRSDGE FSPHSHYSDS DEAS
