LOCUS       NM_145178               1519 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens atonal bHLH transcription factor 7 (ATOH7), mRNA.
ACCESSION   NM_145178
VERSION     NM_145178.4
KEYWORDS    RefSeq; MANE Select.
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 1519)
  AUTHORS   Naruse,S. and Kondo,H.
  TITLE     OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP
            THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY
  JOURNAL   Retin Cases Brief Rep 17 (6), 694-698 (2023)
   PUBMED   35389970
  REMARK    GeneRIF: OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE
            OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.
REFERENCE   2  (bases 1 to 1519)
  AUTHORS   Trang,D.T., Phu,N.M., Hung,D.M., Nhung,V.P., Ha,N.N.,
            Thuong,M.T.H., Ngoc,T.T.B., Hiep,N.X., Ton,N.D., Hai,N.V. and
            Ha,N.H.
  TITLE     Whole exome sequencing revealed novel pathogenic variants in
            Vietnamese patients with FEVR
  JOURNAL   Mol Vis 28, 480-491 (2022)
   PUBMED   37089697
  REMARK    GeneRIF: Whole exome sequencing revealed novel pathogenic variants
            in Vietnamese patients with FEVR.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1519)
  AUTHORS   Atac,D., Mohn,L., Feil,S., Maggi,K., Haenni,D., Seebauer,B.,
            Koller,S. and Berger,W.
  TITLE     Functional Characterization of an In-Frame Deletion in the Basic
            Domain of the Retinal Transcription Factor ATOH7
  JOURNAL   Int J Mol Sci 23 (3), 1053 (2022)
   PUBMED   35162975
  REMARK    GeneRIF: Functional Characterization of an In-Frame Deletion in the
            Basic Domain of the Retinal Transcription Factor ATOH7.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1519)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1519)
  AUTHORS   Atac,D., Koller,S., Hanson,J.V.M., Feil,S., Tiwari,A., Bahr,A.,
            Baehr,L., Magyar,I., Kottke,R., Gerth-Kahlert,C. and Berger,W.
  TITLE     Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant
            bilateral optic nerve hypoplasia
  JOURNAL   Hum Mol Genet 29 (1), 132-148 (2020)
   PUBMED   31696227
  REMARK    GeneRIF: Atonal homolog 7 (ATOH7) loss-of-function mutations in
            predominant bilateral optic nerve hypoplasia.
REFERENCE   6  (bases 1 to 1519)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (bases 1 to 1519)
  AUTHORS   Choy,K.W., Wang,C.C., Ogura,A., Lau,T.K., Rogers,M.S., Ikeo,K.,
            Gojobori,T., Lam,D.S. and Pang,C.P.
  TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
            gestation human eyes
  JOURNAL   Physiol Genomics 25 (1), 9-15 (2006)
   PUBMED   16368877
REFERENCE   8  (bases 1 to 1519)
  AUTHORS   McLellan,A.S., Langlands,K. and Kealey,T.
  TITLE     Exhaustive identification of human class II basic helix-loop-helix
            proteins by virtual library screening
  JOURNAL   Mech Dev 119 Suppl 1, S285-S291 (2002)
   PUBMED   14516699
REFERENCE   9  (bases 1 to 1519)
  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
REFERENCE   10 (bases 1 to 1519)
  AUTHORS   Ghiasvand,N.M., Fleming,T.P., Helms,C., Avisa,A. and
            Donis-Keller,H.
  TITLE     Genetic fine mapping of the gene for nonsyndromic congenital
            retinal nonattachment
  JOURNAL   Am J Med Genet 92 (3), 220-223 (2000)
   PUBMED   10817658
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB593109.1, BY797167.2 and
            H05728.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_145178.3.
            
            Summary: This intronless gene encodes a member of the basic
            helix-loop-helix family of transcription factors, with similarity
            to Drosophila atonal gene that controls photoreceptor development.
            Studies in mice suggest that this gene plays a central role in
            retinal ganglion cell and optic nerve formation. Mutations in this
            gene are associated with nonsyndromic congenital retinal
            nonattachment. [provided by RefSeq, Dec 2011].
            
            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 :: AB593109.1, AB593108.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373673.5/ ENSP00000362777.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               AB593109.1         1-121
            122-407             BY797167.2         96-381
            408-1517            AB593109.1         408-1517
            1518-1519           H05728.1           16-17               c
FEATURES             Location/Qualifiers
     source          1..1519
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.3"
     gene            1..1519
                     /gene="ATOH7"
                     /gene_synonym="bHLHa13; Math5; NCRNA; PHPVAR; RNANC"
                     /note="atonal bHLH transcription factor 7"
                     /db_xref="GeneID:220202"
                     /db_xref="HGNC:HGNC:13907"
                     /db_xref="MIM:609875"
     exon            1..1519
                     /gene="ATOH7"
                     /gene_synonym="bHLHa13; Math5; NCRNA; PHPVAR; RNANC"
                     /inference="alignment:Splign:2.1.0"
     CDS             437..895
                     /gene="ATOH7"
                     /gene_synonym="bHLHa13; Math5; NCRNA; PHPVAR; RNANC"
                     /note="protein atonal homolog 7; helix-loop-helix protein
                     hATH-5; class A basic helix-loop-helix protein 13; atonal
                     homolog bHLH transcription factor 7"
                     /codon_start=1
                     /product="transcription factor ATOH7"
                     /protein_id="NP_660161.1"
                     /db_xref="CCDS:CCDS7276.1"
                     /db_xref="GeneID:220202"
                     /db_xref="HGNC:HGNC:13907"
                     /db_xref="MIM:609875"
                     /translation="MKSCKPSGPPAGARVAPPCAGGTECAGTCAGAGRLESAARRRLA
                     ANARERRRMQGLNTAFDRLRRVVPQWGQDKKLSKYETLQMALSYIMALTRILAEAERF
                     GSERDWVGLHCEHFGRDHYLPFPGAKLPGESELYSQRLFGFQPEPFQMAT"
     regulatory      1489..1494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATOH7"
                     /gene_synonym="bHLHa13; Math5; NCRNA; PHPVAR; RNANC"
                     /note="hexamer: AATAAA"
     polyA_site      1519
                     /gene="ATOH7"
                     /gene_synonym="bHLHa13; Math5; NCRNA; PHPVAR; RNANC"
                     /note="major polyA site"
ORIGIN      
        1 ctgcactctc cgacagctac tgcgctaaaa gcgctccttc cctgagcttc gggaaagagt
       61 tcatcttcct gcaaaggagt ctcaggcttt cccagaggac ttgaaaggcc ttcctcgaac
      121 cagccacacc aaactctgct gcagaaggtt tccttctctt tttcaacttc atgttgagaa
      181 aatgactttc tcttgagcat ctcattttcc cctaaatttg ggcaagtgaa gagatatcag
      241 cctggtcatc cagtagaaca gaaggccgag tcccgcactc ccccactgta aactatttga
      301 ttgcacgtga gttgctttgt ttatgactta tttgctcaga agaggcacgt tgggaagcgg
      361 ctcgagagac cagcccacgc gcaggtcctg agcgggcggg cgtgcgaggt cggcgcctcg
      421 ctgcttgggg ccggggatga agtcctgcaa gcccagcggc ccgccggcgg gagcgcgcgt
      481 tgcacccccg tgcgcgggcg gcaccgagtg cgcgggcacg tgcgccgggg ccgggcggct
      541 ggagagcgcg gcgcgcaggc gcctggcggc caacgcgcgc gagcgccgcc gcatgcaggg
      601 gctcaacact gccttcgacc gcttacgcag ggtggttccc cagtggggcc aggataaaaa
      661 gctgtccaag tacgagaccc tgcagatggc cctgagctac atcatggctc tgacccggat
      721 cctggccgag gccgagcgat tcggctcgga gcgggactgg gtgggtctcc actgtgagca
      781 cttcggccgc gaccactacc tcccgttccc gggcgcgaag ctgccgggcg agagcgagct
      841 gtacagccag agactcttcg gcttccagcc cgagcccttc cagatggcca cctagggcgc
      901 gcgcctccgc gggggtgggt gtccggcagc cgctccgagc ctcggccctg ccccaagtag
      961 cccagaagcc tccggcggcc caggattcta aggatgcaat cctcgaggaa aattagtcga
     1021 ttctcagatt acctttattc gcatcatcag acctatggac gcaatcattt aattgccttt
     1081 cttttcccct cctcctttgt attttgtaga tttcattaat ggatcttgtg aatgggttga
     1141 ttgctgtgaa aataatgccc cctttcccct tttctgggct actttgaggg aaaacaatct
     1201 taagaaaaat aggattaagc tattctgttc cagtcctcag agaaataatc actttcttaa
     1261 actttgtgag tttgtcctgt tcgggtgaag ttacagtatc cattacttgt gtttgctcac
     1321 aacagagcta ccttcctgtt gtgtaaatgc gtttttgctt tagtgcattg tgtgtgcaag
     1381 catgaagtag aaacactttt tttttctggg tacagtacat gggtatcggt gctctgtatt
     1441 tttttaaact gtgtacacat tattaaaata tacattttat aaaatataaa taaaaacgtg
     1501 gatttgtttt tcatgccaa
//
