LOCUS       NM_000260               7483 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.
ACCESSION   NM_000260
VERSION     NM_000260.4
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 7483)
  AUTHORS   Peart,L., Gonzalez,J., Morel Swols,D., Duman,D., Saridogan,T.,
            Ramzan,M., Zafeer,M.F., Liu,X.Z., Eshraghi,A.A., Hoffer,M.E.,
            Angeli,S.I., Bademci,G., Blanton,S., Smith,C., Telischi,F.F. and
            Tekin,M.
  TITLE     Dispersed DNA variants underlie hearing loss in South Florida's
            minority population
  JOURNAL   Hum Genomics 17 (1), 103 (2023)
   PUBMED   37996878
  REMARK    GeneRIF: Dispersed DNA variants underlie hearing loss in South
            Florida's minority population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7483)
  AUTHORS   Gilmore,W.B., Hultgren,N.W., Chadha,A., Barocio,S.B., Zhang,J.,
            Kutsyr,O., Flores-Bellver,M., Canto-Soler,M.V. and Williams,D.S.
  TITLE     Expression of two major isoforms of MYO7A in the retina:
            Considerations for gene therapy of Usher syndrome type 1B
  JOURNAL   Vision Res 212, 108311 (2023)
   PUBMED   37586294
  REMARK    GeneRIF: Expression of two major isoforms of MYO7A in the retina:
            Considerations for gene therapy of Usher syndrome type 1B.
REFERENCE   3  (bases 1 to 7483)
  AUTHORS   Baux,D., Faugere,V., Larrieu,L., Le Guedard-Mereuze,S., Hamroun,D.,
            Beroud,C., Malcolm,S., Claustres,M. and Roux,A.F.
  TITLE     UMD-USHbases: a comprehensive set of databases to record and
            analyse pathogenic mutations and unclassified variants in seven
            Usher syndrome causing genes
  JOURNAL   Hum Mutat 29 (8), E76-E87 (2008)
   PUBMED   18484607
REFERENCE   4  (bases 1 to 7483)
  AUTHORS   Inoue,A. and Ikebe,M.
  TITLE     Characterization of the motor activity of mammalian myosin VIIA
  JOURNAL   J Biol Chem 278 (7), 5478-5487 (2003)
   PUBMED   12466270
REFERENCE   5  (bases 1 to 7483)
  AUTHORS   Kelley,P.M., Weston,M.D., Chen,Z.Y., Orten,D.J., Hasson,T.,
            Overbeck,L.D., Pinnt,J., Talmadge,C.B., Ing,P., Mooseker,M.S.,
            Corey,D., Sumegi,J. and Kimberling,W.J.
  TITLE     The genomic structure of the gene defective in Usher syndrome type
            Ib (MYO7A)
  JOURNAL   Genomics 40 (1), 73-79 (1997)
   PUBMED   9070921
REFERENCE   6  (bases 1 to 7483)
  AUTHORS   Chen,Z.Y., Hasson,T., Kelley,P.M., Schwender,B.J., Schwartz,M.F.,
            Ramakrishnan,M., Kimberling,W.J., Mooseker,M.S. and Corey,D.P.
  TITLE     Molecular cloning and domain structure of human myosin-VIIa, the
            gene product defective in Usher syndrome 1B
  JOURNAL   Genomics 36 (3), 440-448 (1996)
   PUBMED   8884267
REFERENCE   7  (bases 1 to 7483)
  AUTHORS   Hasson,T., Heintzelman,M.B., Santos-Sacchi,J., Corey,D.P. and
            Mooseker,M.S.
  TITLE     Expression in cochlea and retina of myosin VIIa, the gene product
            defective in Usher syndrome type 1B
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9815-9819 (1995)
   PUBMED   7568224
REFERENCE   8  (bases 1 to 7483)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   9  (bases 1 to 7483)
  AUTHORS   Koenekoop,R.K., Arriaga,M.A., Trzupek,K.M. and Lentz,J.J.
  TITLE     Usher Syndrome Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301442
REFERENCE   10 (bases 1 to 7483)
  AUTHORS   Kimberling,W.J., Moller,C.G., Davenport,S., Priluck,I.A.,
            Beighton,P.H., Greenberg,J., Reardon,W., Weston,M.D., Kenyon,J.B.,
            Grunkemeyer,J.A. et al.
  TITLE     Linkage of Usher syndrome type I gene (USH1B) to the long arm of
            chromosome 11
  JOURNAL   Genomics 14 (4), 988-994 (1992)
   PUBMED   1478677
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000752.4, U39226.1, U34227.1,
            U55208.1 and BG108466.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000260.3.
            
            Summary: This gene is a member of the myosin gene family. Myosins
            are mechanochemical proteins characterized by the presence of a
            motor domain, an actin-binding domain, a neck domain that interacts
            with other proteins, and a tail domain that serves as an anchor.
            This gene encodes an unconventional myosin with a very short tail.
            Defects in this gene are associated with the mouse shaker-1
            phenotype and the human Usher syndrome 1B which are characterized
            by deafness, reduced vestibular function, and (in human) retinal
            degeneration. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: The update from NM_00260.1 to NM_00260.2 was
            intended to only modify select nucleotide residues that did not
            match the reference genome; however, the update mistakenly
            represented use of an alternate splice donor and splice acceptor
            site.  NM_00260.2 was subsequently updated to version 3 to
            represent the original exon and splice site combination. The
            difference between NM_000260.1 and NM_000260.3 involve single
            residue changes to match the reference genome.
            
            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 exon combination :: U39226.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409709.9/ ENSP00000386331.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AP000752.4         129885-129902
            19-38               U39226.1           1-20
            39-336              U34227.1           16-313
            337-5044            U39226.1           319-5026
            5045-6638           U55208.1           4908-6501
            6639-7480           U39226.1           6621-7462
            7481-7483           BG108466.1         124-126
FEATURES             Location/Qualifiers
     source          1..7483
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.5"
     gene            1..7483
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /note="myosin VIIA"
                     /db_xref="GeneID:4647"
                     /db_xref="HGNC:HGNC:7606"
                     /db_xref="MIM:276903"
     exon            1..244
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            245..308
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    279..281
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /note="upstream in-frame stop codon"
     CDS             291..6938
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myosin VIIA (Usher syndrome 1B (autosomal recessive,
                     severe)); unconventional myosin-VIIa"
                     /codon_start=1
                     /product="unconventional myosin-VIIa isoform 1"
                     /protein_id="NP_000251.3"
                     /db_xref="CCDS:CCDS53683.1"
                     /db_xref="GeneID:4647"
                     /db_xref="HGNC:HGNC:7606"
                     /db_xref="MIM:276903"
                     /translation="MVILQQGDHVWMDLRLGQEFDVPIGAVVKLCDSGQVQVVDDEDN
                     EHWISPQNATHIKPMHPTSVHGVEDMIRLGDLNEAGILRNLLIRYRDHLIYTYTGSIL
                     VAVNPYQLLSIYSPEHIRQYTNKKIGEMPPHIFAIADNCYFNMKRNSRDQCCIISGES
                     GAGKTESTKLILQFLAAISGQHSWIEQQVLEATPILEAFGNAKTIRNDNSSRFGKYID
                     IHFNKRGAIEGAKIEQYLLEKSRVCRQALDERNYHVFYCMLEGMSEDQKKKLGLGQAS
                     DYNYLAMGNCITCEGRVDSQEYANIRSAMKVLMFTDTENWEISKLLAAILHLGNLQYE
                     ARTFENLDACEVLFSPSLATAASLLEVNPPDLMSCLTSRTLITRGETVSTPLSREQAL
                     DVRDAFVKGIYGRLFVWIVDKINAAIYKPPSQDVKNSRRSIGLLDIFGFENFAVNSFE
                     QLCINFANEHLQQFFVRHVFKLEQEEYDLESIDWLHIEFTDNQDALDMIANKPMNIIS
                     LIDEESKFPKGTDTTMLHKLNSQHKLNANYIPPKNNHETQFGINHFAGIVYYETQGFL
                     EKNRDTLHGDIIQLVHSSRNKFIKQIFQADVAMGAETRKRSPTLSSQFKRSLELLMRT
                     LGACQPFFVRCIKPNEFKKPMLFDRHLCVRQLRYSGMMETIRIRRAGYPIRYSFVEFV
                     ERYRVLLPGVKPAYKQGDLRGTCQRMAEAVLGTHDDWQIGKTKIFLKDHHDMLLEVER
                     DKAITDRVILLQKVIRGFKDRSNFLKLKNAATLIQRHWRGHNCRKNYGLMRLGFLRLQ
                     ALHRSRKLHQQYRLARQRIIQFQARCRAYLVRKAFRHRLWAVLTVQAYARGMIARRLH
                     QRLRAEYLWRLEAEKMRLAEEEKLRKEMSAKKAKEEAERKHQERLAQLAREDAERELK
                     EKEAARRKKELLEQMERARHEPVNHSDMVDKMFGFLGTSGGLPGQEGQAPSGFEDLER
                     GRREMVEEDLDAALPLPDEDEEDLSEYKFAKFAATYFQGTTTHSYTRRPLKQPLLYHD
                     DEGDQLAALAVWITILRFMGDLPEPKYHTAMSDGSEKIPVMTKIYETLGKKTYKRELQ
                     ALQGEGEAQLPEGQKKSSVRHKLVHLTLKKKSKLTEEVTKRLHDGESTVQGNSMLEDR
                     PTSNLEKLHFIIGNGILRPALRDEIYCQISKQLTHNPSKSSYARGWILVSLCVGCFAP
                     SEKFVKYLRNFIHGGPPGYAPYCEERLRRTFVNGTRTQPPSWLELQATKSKKPIMLPV
                     TFMDGTTKTLLTDSATTAKELCNALADKISLKDRFGFSLYIALFDKVSSLGSGSDHVM
                     DAISQCEQYAKEQGAQERNAPWRLFFRKEVFTPWHSPSEDNVATNLIYQQVVRGVKFG
                     EYRCEKEDDLAELASQQYFVDYGSEMILERLLNLVPTYIPDREITPLKTLEKWAQLAI
                     AAHKKGIYAQRRTDAQKVKEDVVSYARFKWPLLFSRFYEAYKFSGPSLPKNDVIVAVN
                     WTGVYFVDEQEQVLLELSFPEIMAVSSSRECRVWLSLGCSDLGCAAPHSGWAGLTPAG
                     PCSPCWSCRGAKTTAPSFTLATIKGDEYTFTSSNAEDIRDLVVTFLEGLRKRSKYVVA
                     LQDNPNPAGEESGFLSFAKGDLIILDHDTGEQVMNSGWANGINERTKQRGDFPTDSVY
                     VMPTVTMPPREIVALVTMTPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPPP
                     KHTLSRVMVSKARGKDRLWSHTREPLKQALLKKLLGSEELSQEACLAFIAVLKYMGDY
                     PSKRTRSVNELTDQIFEGPLKAEPLKDEAYVQILKQLTDNHIRYSEERGWELLWLCTG
                     LFPPSNILLPHVQRFLQSRKHCPLAIDCLQRLQKALRNGSRKYPPHLVEVEAIQHKTT
                     QIFHKVYFPDDTDEAFEVESSTKAKDFCQNIATRLLLKSSEGFSLFVKIADKVLSVPE
                     NDFFFDFVRHLTDWIKKARPIKDGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYY
                     QELPKYLRGYHKCTREEVLQLGALIYRVKFEEDKSYFPSIPKLLRELVPQDLIRQVSP
                     DDWKRSIVAYFNKHAGKSKEEAKLAFLKLIFKWPTFGSAFFEVKQTTEPNFPEILLIA
                     INKYGVSLIDPKTKDILTTHPFTKISNWSSGNTYFHITIGNLVRGSKLLCETSLGYKM
                     DDLLTSYISQMLTAMSKQRGSRSGK"
     misc_feature    2184..2207
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13402.2);
                     Region: Actin-binding. /evidence=ECO:0000305"
     misc_feature    2862..3095
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13402.2);
                     Region: SAH. /evidence=ECO:0000305|PubMed:25122759"
     misc_feature    4995..4997
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97479; propagated from
                     UniProtKB/Swiss-Prot (Q13402.2); phosphorylation site"
     misc_feature    5001..5003
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97479; propagated from
                     UniProtKB/Swiss-Prot (Q13402.2); phosphorylation site"
     exon            309..422
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            423..575
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            576..760
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            761..882
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1025
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1139
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1293
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1370
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1490
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1633
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1844
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1845..1980
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1981..2087
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            2088..2225
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            2226..2384
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            2385..2477
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            2478..2572
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
    
