ATOH8_DANRE
ID ATOH8_DANRE Reviewed; 266 AA.
AC D2CLZ9;
DT 22-JUL-2015, integrated into UniProtKB/Swiss-Prot.
DT 09-FEB-2010, sequence version 1.
DT 03-AUG-2022, entry version 73.
DE RecName: Full=Transcription factor atoh8 {ECO:0000305};
DE AltName: Full=Atonal bHLH transcription factor 8 {ECO:0000312|ZFIN:ZDB-GENE-061215-7};
DE AltName: Full=Protein atonal homolog 8 {ECO:0000312|ZFIN:ZDB-GENE-061215-7};
GN Name=atoh8 {ECO:0000312|ZFIN:ZDB-GENE-061215-7};
GN ORFNames=zgc:158314 {ECO:0000312|ZFIN:ZDB-GENE-061215-7};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE, AND
RP FUNCTION.
RX PubMed=20532172; DOI=10.1371/journal.pone.0010945;
RA Yao J., Zhou J., Liu Q., Lu D., Wang L., Qiao X., Jia W.;
RT "Atoh8, a bHLH transcription factor, is required for the development of
RT retina and skeletal muscle in zebrafish.";
RL PLoS ONE 5:E10945-E10945(2010).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [3]
RP FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=23836893; DOI=10.1074/jbc.m113.463083;
RA Rawnsley D.R., Xiao J., Lee J.S., Liu X., Mericko-Ishizuka P., Kumar V.,
RA He J., Basu A., Lu M., Lynn F.C., Pack M., Gasa R., Kahn M.L.;
RT "The transcription factor Atonal homolog 8 regulates Gata4 and Friend of
RT Gata-2 during vertebrate development.";
RL J. Biol. Chem. 288:24429-24440(2013).
CC -!- FUNCTION: Transcription factor that binds a palindromic (canonical)
CC core consensus DNA sequence 5'-CANNTG- 3' known as an E-box element,
CC possibly as a heterodimer with other bHLH proteins (By similarity).
CC During development, is required for heart looping and swim bladder
CC formation by acting in concert with GATA4 AND ZFPM1 (PubMed:23836893).
CC During the development of both the retina and skeletal muscles is
CC required for neural retinal cell through modulating PAX6 and NEUROG3
CC expression and myogenic differentiation (PubMed:20532172).
CC {ECO:0000250|UniProtKB:Q96SQ7, ECO:0000269|PubMed:20532172,
CC ECO:0000269|PubMed:23836893}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q99NA2}. Nucleus
CC speckle {ECO:0000250|UniProtKB:Q96SQ7}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q99NA2}.
CC -!- DEVELOPMENTAL STAGE: Weakly expressed in the heart tube at 30 hours
CC post-fertilization (PubMed:23836893). Expressed at as early as epiboly
CC stage, and is broadly distributed till early segmentation stage and in
CC developing retina and skeletal muscle. In the eye, expression is
CC detected in the optic primordium at the 6-somite stage and is steadily
CC expressed during the invagination of the optic vesicle from its
CC initiation to its expansion to the lens rudiment. In skeletal muscle, a
CC faint signal is detected in muscle precursor cells at the early
CC segmentation period, and in ventral somites from the 21-somite to 24
CC hour post fertilization stage. Expression decreases sharply during 36
CC to 48 hour post fertilization stage while it reached its highest level
CC at about 72 hour post fertilization stage. During this period, the
CC distribution extends to the dorsal somites. In addition also appeared
CC in the brain and neural crest cell (PubMed:20532172).
CC {ECO:0000269|PubMed:20532172, ECO:0000269|PubMed:23836893}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of atoh8 causes two
CC phenotypes. The severe phenotype displays a shrunken head, reduced eye
CC size and fused somites and most embryos die within 3 days. The mild
CC phenotype displays an abnormal brain shape with smaller eyes, a curved
CC body axis with indistinct somite boundaries and frequently reduced or
CC no circulation. In addition, the yolk extension is hardly visible
CC starting at the beginning of tail straightening from the 17-somite
CC stage. {ECO:0000269|PubMed:20532172}.
CC -!- CAUTION: Contains a degenerate basic motif not likely to bind DNA.
CC {ECO:0000255|PROSITE-ProRule:PRU00981}.
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DR EMBL; EU272033; ABY90093.1; -; mRNA.
DR EMBL; BX957231; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_001073460.2; NM_001079991.2.
DR AlphaFoldDB; D2CLZ9; -.
DR SMR; D2CLZ9; -.
DR STRING; 7955.ENSDARP00000054688; -.
DR PaxDb; D2CLZ9; -.
DR Ensembl; ENSDART00000054689; ENSDARP00000054688; ENSDARG00000037555.
DR GeneID; 561606; -.
DR KEGG; dre:561606; -.
DR CTD; 84913; -.
DR ZFIN; ZDB-GENE-061215-7; atoh8.
DR eggNOG; KOG3898; Eukaryota.
DR GeneTree; ENSGT00940000161151; -.
DR HOGENOM; CLU_057987_0_0_1; -.
DR InParanoid; D2CLZ9; -.
DR OMA; HRSEIIT; -.
DR OrthoDB; 1014108at2759; -.
DR PhylomeDB; D2CLZ9; -.
DR TreeFam; TF324848; -.
DR PRO; PR:D2CLZ9; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 14.
DR Bgee; ENSDARG00000037555; Expressed in spleen and 22 other tissues.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0016607; C:nuclear speck; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
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:0007507; P:heart development; IGI:ZFIN.
DR GO; GO:0001947; P:heart looping; IMP:UniProtKB.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0061074; P:regulation of neural retina development; IMP:ZFIN.
DR GO; GO:2001014; P:regulation of skeletal muscle cell differentiation; IMP:ZFIN.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0048797; P:swim bladder formation; IMP:UniProtKB.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR032660; ATOH8.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR PANTHER; PTHR19290:SF102; PTHR19290:SF102; 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 Cytoplasm; Developmental protein; Differentiation; DNA-binding;
KW Neurogenesis; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..266
FT /note="Transcription factor atoh8"
FT /id="PRO_0000433566"
FT DOMAIN 175..227
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 140..164
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 175..188
FT /note="Basic motif; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 189..227
FT /note="Helix-loop-helix motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
SQ SEQUENCE 266 AA; 29804 MW; 0679730255481602 CRC64;
MKNPHLNSPC KILNTVSGDK KMKRKAREPI KHVSEDHYPY FKLYKNPHLM AETLGDGSPQ
ETHRSEIITS RDDSVRNDVL NTAVDMRINT ITAAEVPDSK LRSVSEKTVN SKIVQASPQV
SVLSAPQVFP LERVVLSQRA ASQAPAGGSE RAESPRKRAG EPSGVVTEIK AIQQTRRLLA
NARERTRVHT ISAAFEALRK QVPCYSYGQK LSKLAILRIA CNYILSLAQL ADLDYTPDHR
NMSFRECVEQ CTRTLQAEGR SKKRKE