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Protein atonal homolog 7 (Class A basic helix-loop-helix protein 13) (bHLHa13) (Helix-loop-helix protein hATH-5) (hATH5)

 ATOH7_HUMAN             Reviewed;         152 AA.
Q8N100;
26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
01-OCT-2002, sequence version 1.
12-SEP-2018, entry version 125.
RecName: Full=Protein atonal homolog 7;
AltName: Full=Class A basic helix-loop-helix protein 13;
Short=bHLHa13;
AltName: Full=Helix-loop-helix protein hATH-5;
Short=hATH5;
Name=ATOH7; Synonyms=ATH5, BHLHA13;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=11889557; DOI=10.1007/s00335-001-2101-3;
Brown N.L., Dagenais S.L., Chen C.-M., Glaser T.;
"Molecular characterization and mapping of ATOH7, a human atonal
homolog with a predicted role in retinal ganglion cell development.";
Mamm. Genome 13:95-101(2002).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Eye;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
IDENTIFICATION.
PubMed=14516699; DOI=10.1016/S0925-4773(03)00130-8;
McLellan A.S., Langlands K., Kealey T.;
"Exhaustive identification of human class II basic helix-loop-helix
proteins by virtual library screening.";
Mech. Dev. 119:S285-S291(2002).
[4]
INVOLVEMENT IN PHPVAR.
PubMed=21441919; DOI=10.1038/nn.2798;
Ghiasvand N.M., Rudolph D.D., Mashayekhi M., Brzezinski J.A.,
Goldman D., Glaser T.;
"Deletion of a remote enhancer near ATOH7 disrupts retinal
neurogenesis, causing NCRNA disease.";
Nat. Neurosci. 14:578-586(2011).
[5]
VARIANTS THR-47 AND GLY-65.
PubMed=20395239; DOI=10.1093/hmg/ddq144;
Macgregor S., Hewitt A.W., Hysi P.G., Ruddle J.B., Medland S.E.,
Henders A.K., Gordon S.D., Andrew T., McEvoy B., Sanfilippo P.G.,
Carbonaro F., Tah V., Li Y.J., Bennett S.L., Craig J.E.,
Montgomery G.W., Tran-Viet K.N., Brown N.L., Spector T.D.,
Martin N.G., Young T.L., Hammond C.J., Mackey D.A.;
"Genome-wide association identifies ATOH7 as a major gene determining
human optic disc size.";
Hum. Mol. Genet. 19:2716-2724(2010).
[6]
VARIANT PHPVAR VAL-49.
PubMed=22068589; DOI=10.1093/hmg/ddr509;
Khan K., Logan C.V., McKibbin M., Sheridan E., Elcioglu N.H.,
Yenice O., Parry D.A., Fernandez-Fuentes N., Abdelhamed Z.I.,
Al-Maskari A., Poulter J.A., Mohamed M.D., Carr I.M., Morgan J.E.,
Jafri H., Raashid Y., Taylor G.R., Johnson C.A., Inglehearn C.F.,
Toomes C., Ali M.;
"Next generation sequencing identifies mutations in Atonal homolog 7
(ATOH7) in families with global eye developmental defects.";
Hum. Mol. Genet. 21:776-783(2012).
[7]
VARIANT PHPVAR HIS-46, CHARACTERIZATION OF VARIANT PHPVAR HIS-46,
VARIANTS THR-47 AND GLY-65, CHARACTERIZATION OF VARIANTS THR-47 AND
GLY-65, AND MUTAGENESIS OF LEU-56.
PubMed=22645276; DOI=10.1093/hmg/dds197;
Prasov L., Masud T., Khaliq S., Mehdi S.Q., Abid A., Oliver E.R.,
Silva E.D., Lewanda A., Brodsky M.C., Borchert M., Kelberman D.,
Sowden J.C., Dattani M.T., Glaser T.;
"ATOH7 mutations cause autosomal recessive persistent hyperplasia of
the primary vitreous.";
Hum. Mol. Genet. 21:3681-3694(2012).
-!- FUNCTION: Transcription factor involved in the differentiation of
retinal ganglion cells. {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
-!- DISEASE: Persistent hyperplastic primary vitreous, autosomal
recessive (PHPVAR) [MIM:221900]: A developmental eye malformation
associated with microphthalmia, cataract, glaucoma, and congenital
retinal non-attachment. It is due to failure of the primary
vitreous to regress in utero, resulting in the presence of a
retrolental fibrovascular membrane with persistence of the
posterior portion of the tunica vasculosa lentis and hyaloid
artery. Disease manifestations range from a trivial remnant of
hyaloid vessels to a dense fibrovascular mass causing lens opacity
and retinal detachment. {ECO:0000269|PubMed:21441919,
ECO:0000269|PubMed:22068589, ECO:0000269|PubMed:22645276}.
Note=The disease is caused by mutations affecting the gene
represented in this entry. A 6.5 kb deletion that spans a remote
cis regulatory element 20 kb upstream from ATOH7 has been found in
PHPVAR patients (PubMed:21441919). {ECO:0000269|PubMed:21441919}.
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EMBL; AF418922; AAL11911.1; -; Genomic_DNA.
EMBL; BC032621; AAH32621.1; -; mRNA.
EMBL; BK000277; DAA01057.1; -; mRNA.
CCDS; CCDS7276.1; -.
RefSeq; NP_660161.1; NM_145178.3.
UniGene; Hs.175396; -.
UniGene; Hs.737072; -.
ProteinModelPortal; Q8N100; -.
SMR; Q8N100; -.
IntAct; Q8N100; 1.
STRING; 9606.ENSP00000362777; -.
iPTMnet; Q8N100; -.
PhosphoSitePlus; Q8N100; -.
BioMuta; ATOH7; -.
DMDM; 74750873; -.
PaxDb; Q8N100; -.
PeptideAtlas; Q8N100; -.
PRIDE; Q8N100; -.
ProteomicsDB; 71498; -.
DNASU; 220202; -.
Ensembl; ENST00000373673; ENSP00000362777; ENSG00000179774.
GeneID; 220202; -.
KEGG; hsa:220202; -.
UCSC; uc001jnq.4; human.
CTD; 220202; -.
DisGeNET; 220202; -.
EuPathDB; HostDB:ENSG00000179774.8; -.
GeneCards; ATOH7; -.
HGNC; HGNC:13907; ATOH7.
HPA; HPA027008; -.
MalaCards; ATOH7; -.
MIM; 221900; phenotype.
MIM; 609875; gene.
neXtProt; NX_Q8N100; -.
OpenTargets; ENSG00000179774; -.
Orphanet; 300337; Congenital blindness due to retinal non-attachment.
Orphanet; 289499; Congenital cataract microcornea with corneal opacity.
Orphanet; 91495; Persistent hyperplastic primary vitreous.
PharmGKB; PA38369; -.
eggNOG; KOG4395; Eukaryota.
eggNOG; ENOG411269K; LUCA.
GeneTree; ENSGT00680000099860; -.
HOGENOM; HOG000034180; -.
HOVERGEN; HBG094840; -.
InParanoid; Q8N100; -.
KO; K09083; -.
OMA; HYLPFAG; -.
OrthoDB; EOG091G0R1N; -.
PhylomeDB; Q8N100; -.
TreeFam; TF315153; -.
GenomeRNAi; 220202; -.
PRO; PR:Q8N100; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000179774; Expressed in 63 organ(s), highest expression level in anterior cingulate cortex.
CleanEx; HS_ATOH7; -.
ExpressionAtlas; Q8N100; baseline and differential.
Genevisible; Q8N100; HS.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
GO; GO:0007623; P:circadian rhythm; IEA:Ensembl.
GO; GO:0009649; P:entrainment of circadian clock; IEA:Ensembl.
GO; GO:0003407; P:neural retina development; IMP:MGI.
GO; GO:0021554; P:optic nerve development; IMP:MGI.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
CDD; cd00083; HLH; 1.
Gene3D; 4.10.280.10; -; 1.
InterPro; IPR032663; Atoh7.
InterPro; IPR011598; bHLH_dom.
InterPro; IPR036638; HLH_DNA-bd_sf.
PANTHER; PTHR19290:SF99; PTHR19290:SF99; 1.
Pfam; PF00010; HLH; 1.
SMART; SM00353; HLH; 1.
SUPFAM; SSF47459; SSF47459; 1.
PROSITE; PS50888; BHLH; 1.
1: Evidence at protein level;
Complete proteome; Developmental protein; Differentiation;
Disease mutation; DNA-binding; Neurogenesis; Nucleus; Polymorphism;
Reference proteome; Transcription; Transcription regulation.
CHAIN 1 152 Protein atonal homolog 7.
/FTId=PRO_0000292406.
DOMAIN 40 92 bHLH. {ECO:0000255|PROSITE-
ProRule:PRU00981}.
VARIANT 46 46 N -> H (in PHPVAR; loss of function;
polypeptide is stable, but does not bind
DNA or activate transcription; does not
restore retinal ganglion cell development
in retinal explants from a mouse Atoh7
null mutant; dbSNP:rs587777666).
{ECO:0000269|PubMed:22645276}.
/FTId=VAR_072398.
VARIANT 47 47 A -> T (polymorphism; does not affect
DNA-binding activity but reduces
transcription activation).
{ECO:0000269|PubMed:20395239,
ECO:0000269|PubMed:22645276}.
/FTId=VAR_072399.
VARIANT 49 49 E -> V (in PHPVAR; dbSNP:rs587777664).
{ECO:0000269|PubMed:22068589}.
/FTId=VAR_072400.
VARIANT 65 65 R -> G (polymorphism; does not affect
DNA-binding activity or transcription
activation; dbSNP:rs111699024).
{ECO:0000269|PubMed:20395239,
ECO:0000269|PubMed:22645276}.
/FTId=VAR_072401.
MUTAGEN 56 56 L->P: Loss of DNA-binding activity; loss
of ability to restore retinal ganglion
cell development in retinal explants from
a mouse Atoh7 null mutant.
{ECO:0000269|PubMed:22645276}.
SEQUENCE 152 AA; 16871 MW; 9E93E9E60E1697C5 CRC64;
MKSCKPSGPP AGARVAPPCA GGTECAGTCA GAGRLESAAR RRLAANARER RRMQGLNTAF
DRLRRVVPQW GQDKKLSKYE TLQMALSYIM ALTRILAEAE RFGSERDWVG LHCEHFGRDH
YLPFPGAKLP GESELYSQRL FGFQPEPFQM AT


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