Home |
Help |
Advanced search
2024-04-26 13:04:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005172 1065 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.
ACCESSION NM_005172
VERSION NM_005172.1 GI:4885074
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1065)
AUTHORS Xu,H.T., Xie,X.M., Li,Q.C., Liu,S.L., Dai,S.D., Liu,Y. and
Wang,E.H.
TITLE Atonal homolog 1 expression in lung cancer correlates with
inhibitors of the Wnt pathway as well as the differentiation and
primary tumor stage
JOURNAL APMIS 121 (2), 111-119 (2013)
PUBMED 23030416
REMARK GeneRIF: Nuclear expression of Atoh1 was inversely correlated with
the differentiation and primary tumor stage of lung cancers and
also the downregulation of the Wnt pathway.
REFERENCE 2 (bases 1 to 1065)
AUTHORS Masuda,M., Pak,K., Chavez,E. and Ryan,A.F.
TITLE TFE2 and GATA3 enhance induction of POU4F3 and myosin VIIa positive
cells in nonsensory cochlear epithelium by ATOH1
JOURNAL Dev. Biol. 372 (1), 68-80 (2012)
PUBMED 22985730
REMARK GeneRIF: Transfection of hATOH1 in combination with hTCF3 or hGATA3
induced 2-3X more Pou4f3/GFP cells, and similarly enhanced
Pou4f3/GFP and myosin VIIa double-positive cells, when compared to
hATOH1 alone
REFERENCE 3 (bases 1 to 1065)
AUTHORS Zhang,X., Yang,Y., Zhu,R., Bai,J., Tian,Y., Li,X., Peng,Z., He,Y.,
Chen,L., Fang,D., Chen,W., Zou,Q., Mao,X. and Wang,R.
TITLE H. pylori induces the expression of Hath1 in gastric epithelial
cells via interleukin-8/STAT3 phosphorylation while suppressing
Hes1
JOURNAL J. Cell. Biochem. 113 (12), 3740-3751 (2012)
PUBMED 22786753
REMARK GeneRIF: H. pylori up-regulates Hath1 expression through inducing
the release of IL-8 in MKN28 cells.
REFERENCE 4 (bases 1 to 1065)
AUTHORS Kelly,M.C., Chang,Q., Pan,A., Lin,X. and Chen,P.
TITLE Atoh1 directs the formation of sensory mosaics and induces cell
proliferation in the postnatal mammalian cochlea in vivo
JOURNAL J. Neurosci. 32 (19), 6699-6710 (2012)
PUBMED 22573692
REMARK GeneRIF: Atoh1 activates cell proliferation within the normally
postmitotic cochlear epithelium.
REFERENCE 5 (bases 1 to 1065)
AUTHORS Liu,Z., Dearman,J.A., Cox,B.C., Walters,B.J., Zhang,L., Ayrault,O.,
Zindy,F., Gan,L., Roussel,M.F. and Zuo,J.
TITLE Age-dependent in vivo conversion of mouse cochlear pillar and
Deiters' cells to immature hair cells by Atoh1 ectopic expression
JOURNAL J. Neurosci. 32 (19), 6600-6610 (2012)
PUBMED 22573682
REMARK GeneRIF: In vivo conversion of pillar cells and Deiters' cells into
immature auditory hair cells by Atoh1 is age dependent and
resembles normal auditory hair cell development.
REFERENCE 6 (bases 1 to 1065)
AUTHORS Leonard,J.H., Cook,A.L., Van Gele,M., Boyle,G.M., Inglis,K.J.,
Speleman,F. and Sturm,R.A.
TITLE Proneural and proneuroendocrine transcription factor expression in
cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma
JOURNAL Int. J. Cancer 101 (2), 103-110 (2002)
PUBMED 12209986
REMARK GeneRIF: Proneural and proneuroendocrine transcription factor
expression in cutaneous mechanoreceptor (Merkel) cells and Merkel
cell carcinoma
Erratum:[Int J Cancer. 2004 Dec 20;112(6):1086]
REFERENCE 7 (bases 1 to 1065)
AUTHORS Dintilhac,A. and Bernues,J.
TITLE HMGB1 interacts with many apparently unrelated proteins by
recognizing short amino acid sequences
JOURNAL J. Biol. Chem. 277 (9), 7021-7028 (2002)
PUBMED 11748221
REFERENCE 8 (bases 1 to 1065)
AUTHORS Brown,N.L., Dagenais,S.L., Chen,C.M. and Glaser,T.
TITLE Molecular characterization and mapping of ATOH7, a human atonal
homolog with a predicted role in retinal ganglion cell development
JOURNAL Mamm. Genome 13 (2), 95-101 (2002)
PUBMED 11889557
REMARK GeneRIF: Maps to 10q21-22. Candidate gene for optic nerve aplasia
and related syndromes.
REFERENCE 9 (bases 1 to 1065)
AUTHORS Helms,A.W. and Johnson,J.E.
TITLE Progenitors of dorsal commissural interneurons are defined by MATH1
expression
JOURNAL Development 125 (5), 919-928 (1998)
PUBMED 9449674
REFERENCE 10 (bases 1 to 1065)
AUTHORS Ben-Arie,N., McCall,A.E., Berkman,S., Eichele,G., Bellen,H.J. and
Zoghbi,H.Y.
TITLE Evolutionary conservation of sequence and expression of the bHLH
protein Atonal suggests a conserved role in neurogenesis
JOURNAL Hum. Mol. Genet. 5 (9), 1207-1216 (1996)
PUBMED 8872459
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from U61148.1.
Summary: This protein belongs to the basic helix-loop-helix (BHLH)
family of transcription factors. It activates E-box dependent
transcription along with E47. [provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript is intronless :: BC069594.1, BC069145.1 [ECO:0000345]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..1065
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q22"
gene 1..1065
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/note="atonal homolog 1 (Drosophila)"
/db_xref="GeneID:474"
/db_xref="HGNC:797"
/db_xref="HPRD:03270"
/db_xref="MIM:601461"
CDS 1..1065
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/note="atonal homolog 1; helix-loop-helix protein hATH-1;
class A basic helix-loop-helix protein 14"
/codon_start=1
/product="protein atonal homolog 1"
/protein_id="NP_005163.1"
/db_xref="GI:4885075"
/db_xref="CCDS:CCDS3638.1"
/db_xref="GeneID:474"
/db_xref="HGNC:797"
/db_xref="HPRD:03270"
/db_xref="MIM:601461"
/translation="
MSRLLHAEEWAEVKELGDHHRQPQPHHLPQPPPPPQPPATLQAREHPVYPPELSLLDSTDPRAWLAPTLQGICTARAAQYLLHSPELGASEAAAPRDEVDGRGELVRRSSGGASSSKSPGPVKVREQLCKLKGGVVVDELGCSRQRAPSSKQVNGVQKQRRLAANARERRRMHGLNHAFDQLRNVIPSFNNDKKLSKYETLQMAQIYINALSELLQTPSGGEQPPPPPASCKSDHHHLRTAASYEGGAGNATAAGAQQASGGSQRPTPPGSCRTRFSAPASAGGYSVQLDALHFSTFEDSALTAMMAQKNLSPSLPGSILQPVQEENSKTSPRSHRSDGEFSPHSHYSDSDEAS
"
misc_feature 472..642
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/note="Region: basic helix-loop-helix"
misc_feature <514..648
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/note="Helix-loop-helix domain, found in specific DNA-
binding proteins that act as transcription factors; 60-100
amino acids long. A DNA-binding basic region is followed
by two alpha-helices separated by a variable loop region;
HLH forms homo- and heterodimers; Region: HLH; cd00083"
/db_xref="CDD:28964"
misc_feature order(520..525,532..537,541..546,592..594,601..603,
613..615,619..624,634..636,640..645)
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/note="dimerization interface [polypeptide binding]; other
site"
/db_xref="CDD:28964"
exon 1..1065
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/inference="alignment:Splign:1.39.8"
STS 1..1065
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/db_xref="UniSTS:480821"
variation 10
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="c"
/db_xref="dbSNP:369720969"
variation 27
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:377166186"
variation 42
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373441827"
variation 69
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377287614"
variation 73
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:375159413"
variation 83
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201089265"
variation 133
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:145839632"
variation 150
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:138388359"
variation 174
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="c"
/db_xref="dbSNP:113356228"
variation 186
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374062652"
variation 212
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368093381"
variation 275
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371205873"
variation 283
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200577041"
variation 287
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="g"
/replace="t"
/db_xref="dbSNP:368475681"
variation 294
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="g"
/replace="t"
/db_xref="dbSNP:201509026"
variation 304
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="c"
/db_xref="dbSNP:376429461"
variation 347
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149240097"
variation 372
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143419348"
variation 408
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="g"
/replace="t"
/db_xref="dbSNP:369636991"
variation 414
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:115524348"
variation 418
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="c"
/db_xref="dbSNP:202025292"
variation 438
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376812790"
variation 447..448
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace=""
/replace="a"
/db_xref="dbSNP:34477680"
variation 462
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369046364"
variation 465
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="g"
/replace="t"
/db_xref="dbSNP:142207012"
variation 504
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200824879"
variation 518
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373777032"
variation 573
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:34543561"
variation 635
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369884611"
variation 642
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373848308"
variation 647
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201671383"
variation 659
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139664764"
variation 667
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:377300000"
variation 674
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:142870406"
variation 686
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370710738"
variation 709
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373671734"
variation 711
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="c"
/db_xref="dbSNP:35182771"
variation 735
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="t"
/db_xref="dbSNP:375846661"
variation 756
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149770942"
variation 798
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370454058"
variation 802
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145666261"
variation 808
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:35227734"
variation 809
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373713422"
variation 817
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:145270864"
variation 823
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199789935"
variation 830
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371446004"
variation 859
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368034043"
variation 871
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147620158"
variation 899
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142131282"
variation 917
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201443762"
variation 938..940
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace=""
/replace="ctt"
/db_xref="dbSNP:374364595"
variation 957
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200758862"
variation 965
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200054812"
variation 969
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371160490"
variation 975
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:144338372"
variation 993
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="g"
/replace="t"
/db_xref="dbSNP:151169302"
variation 1006
/gene="ATOH1"
/gene_synonym="ATH1; bHLHa14; HATH1; MATH-1"
/replace="a"
/replace="c"
/db_xref="dbSNP:140137565"
ORIGIN
atgtcccgcctgctgcatgcagaagagtgggctgaagtgaaggagttgggagaccaccatcgccagccccagccgcatcatctcccgcaaccgccgccgccgccgcagccacctgcaactttgcaggcgagagagcatcccgtctacccgcctgagctgtccctcctggacagcaccgacccacgcgcctggctggctcccactttgcagggcatctgcacggcacgcgccgcccagtatttgctacattccccggagctgggtgcctcagaggccgctgcgccccgggacgaggtggacggccggggggagctggtaaggaggagcagcggcggtgccagcagcagcaagagccccgggccggtgaaagtgcgggaacagctgtgcaagctgaaaggcggggtggtggtagacgagctgggctgcagccgccaacgggccccttccagcaaacaggtgaatggggtgcagaagcagagacggctagcagccaacgccagggagcggcgcaggatgcatgggctgaaccacgccttcgaccagctgcgcaatgttatcccgtcgttcaacaacgacaagaagctgtccaaatatgagaccctgcagatggcccaaatctacatcaacgccttgtccgagctgctacaaacgcccagcggaggggaacagccaccgccgcctccagcctcctgcaaaagcgaccaccaccaccttcgcaccgcggcctcctatgaagggggcgcgggcaacgcgaccgcagctggggctcagcaggcttccggagggagccagcggccgaccccgcccgggagttgccggactcgcttctcagccccagcttctgcgggagggtactcggtgcagctggacgctctgcacttctcgactttcgaggacagcgccctgacagcgatgatggcgcaaaagaatttgtctccttctctccccgggagcatcttgcagccagtgcaggaggaaaacagcaaaacttcgcctcggtcccacagaagcgacggggaattttccccccattcccattacagtgactcggatgaggcaagttag
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:474 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: TAS
GeneID:474 -> Molecular function: GO:0031490 [chromatin DNA binding] evidence: IEA
GeneID:474 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:474 -> Molecular function: GO:0046983 [protein dimerization activity] evidence: IEA
GeneID:474 -> Biological process: GO:0001764 [neuron migration] evidence: IEA
GeneID:474 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
GeneID:474 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:474 -> Biological process: GO:0007411 [axon guidance] evidence: IEA
GeneID:474 -> Biological process: GO:0007417 [central nervous system development] evidence: TAS
GeneID:474 -> Biological process: GO:0021987 [cerebral cortex development] evidence: IEA
GeneID:474 -> Biological process: GO:0042472 [inner ear morphogenesis] evidence: IEA
GeneID:474 -> Biological process: GO:0042667 [auditory receptor cell fate specification] evidence: IEA
GeneID:474 -> Biological process: GO:0042668 [auditory receptor cell fate determination] evidence: IEA
GeneID:474 -> Biological process: GO:0045609 [positive regulation of auditory receptor cell differentiation] evidence: IEA
GeneID:474 -> Biological process: GO:0045666 [positive regulation of neuron differentiation] evidence: ISS
GeneID:474 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:474 -> Cellular component: GO:0005634 [nucleus] evidence: ISS
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.