LOCUS       NM_005379               3633 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.
ACCESSION   NM_005379
VERSION     NM_005379.4
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 3633)
  AUTHORS   Braathen,G.J., Hoyer,H., Busk,O.L., Tveten,K., Skjelbred,C.F. and
            Russell,M.B.
  TITLE     Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are
            associated with intermediate Charcot-Marie-Tooth disease in a
            Norwegian family
  JOURNAL   Acta Neurol Scand 134 (1), 67-75 (2016)
   PUBMED   26517670
  REMARK    GeneRIF: This is the first time a haplotype on chromosome 12
            containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and
            MYO1A has been linked to an inherited neuropathy in humans.
REFERENCE   2  (bases 1 to 3633)
  AUTHORS   Patton,J., Brewer,C., Chien,W., Johnston,J.J., Griffith,A.J. and
            Biesecker,L.G.
  TITLE     A genotypic ascertainment approach to refute the association of
            MYO1A variants with non-syndromic deafness
  JOURNAL   Eur J Hum Genet 25 (1), 147-149 (2016)
   PUBMED   27759032
  REMARK    GeneRIF: These data do not support a causal relationship of
            variants in MYO1A to sensorineural hearing loss. We suggest that
            the genotypic ascertainment method is useful to objectively
            evaluate gene-phenotype associations.
REFERENCE   3  (bases 1 to 3633)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   4  (bases 1 to 3633)
  AUTHORS   Kwon,T.J., Oh,S.K., Park,H.J., Sato,O., Venselaar,H., Choi,S.Y.,
            Kim,S., Lee,K.Y., Bok,J., Lee,S.H., Vriend,G., Ikebe,M., Kim,U.K.
            and Choi,J.Y.
  TITLE     The effect of novel mutations on the structure and enzymatic
            activity of unconventional myosins associated with autosomal
            dominant non-syndromic hearing loss
  JOURNAL   Open Biol 4 (7) (2014)
   PUBMED   25080041
  REMARK    GeneRIF: One missense variant, p.R544W, was found in the MYO1A
            gene, and in silico analysis suggested that this variant has
            deleterious effects on protein function.
REFERENCE   5  (bases 1 to 3633)
  AUTHORS   Eisenberger,T., Di Donato,N., Baig,S.M., Neuhaus,C., Beyer,A.,
            Decker,E., Murbe,D., Decker,C., Bergmann,C. and Bolz,H.J.
  TITLE     Targeted and genomewide NGS data disqualify mutations in MYO1A, the
            'DFNA48 gene', as a cause of deafness
  JOURNAL   Hum Mutat 35 (5), 565-570 (2014)
   PUBMED   24616153
  REMARK    GeneRIF: Most of the altogether 10 MYO1A mutations are annotated in
            dbSNP, and population frequencies (dbSNP, 1000 Genomes, Exome
            Sequencing Project) above 0.1% contradict pathogenicity under a
            dominant model
REFERENCE   6  (bases 1 to 3633)
  AUTHORS   Durrbach,A., Collins,K., Matsudaira,P., Louvard,D. and Coudrier,E.
  TITLE     Brush border myosin-I truncated in the motor domain impairs the
            distribution and the function of endocytic compartments in an
            hepatoma cell line
  JOURNAL   Proc Natl Acad Sci U S A 93 (14), 7053-7058 (1996)
   PUBMED   8692943
REFERENCE   7  (bases 1 to 3633)
  AUTHORS   Bement,W.M., Hasson,T., Wirth,J.A., Cheney,R.E. and Mooseker,M.S.
  TITLE     Identification and overlapping expression of multiple
            unconventional myosin genes in vertebrate cell types
  JOURNAL   Proc Natl Acad Sci U S A 91 (14), 6549-6553 (1994)
   PUBMED   8022818
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 1994 Nov 22;91(24):11767. doi:
            10.1073/pnas.91.24.11767-c.. PMID: 7972138]
REFERENCE   8  (bases 1 to 3633)
  AUTHORS   Okubo,K., Yoshii,J., Yokouchi,H., Kameyama,M. and Matsubara,K.
  TITLE     An expression profile of active genes in human colonic mucosa
  JOURNAL   DNA Res 1 (1), 37-45 (1994)
   PUBMED   7584027
REFERENCE   9  (bases 1 to 3633)
  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   10 (bases 1 to 3633)
  AUTHORS   Hoshimaru,M., Fujio,Y., Sobue,K., Sugimoto,T. and Nakanishi,S.
  TITLE     Immunochemical evidence that myosin I heavy chain-like protein is
            identical to the 110-kilodalton brush-border protein
  JOURNAL   J Biochem 106 (3), 455-459 (1989)
   PUBMED   2606897
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026120.33, BC059387.1 and
            D25786.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005379.3.
            
            Summary: This gene encodes a member of the myosin superfamily. The
            protein represents an unconventional myosin; it should not be
            confused with the conventional skeletal muscle myosin-1 (MYH1).
            Unconventional myosins contain the basic domains characteristic of
            conventional myosins and are further distinguished from class
            members by their tail domains. They function as actin-based
            molecular motors. Mutations in this gene have been associated with
            autosomal dominant deafness. Alternatively spliced variants have
            been found for this gene. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            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 :: AF105424.1, BC059387.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300119.8/ ENSP00000300119.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC026120.33        152021-152032       c
            13-3530             BC059387.1         1-3518
            3531-3633           D25786.1           42-144
FEATURES             Location/Qualifiers
     source          1..3633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..3633
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /note="myosin IA"
                     /db_xref="GeneID:4640"
                     /db_xref="HGNC:HGNC:7595"
                     /db_xref="MIM:601478"
     exon            1..243
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            244..377
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     CDS             264..3395
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /note="myosin I heavy chain; myosin, heavy
                     polypeptide-like (100kD); brush border myosin I; myosin,
                     heavy polypeptide-like 110kDa"
                     /codon_start=1
                     /product="unconventional myosin-Ia"
                     /protein_id="NP_005370.1"
                     /db_xref="CCDS:CCDS8929.1"
                     /db_xref="GeneID:4640"
                     /db_xref="HGNC:HGNC:7595"
                     /db_xref="MIM:601478"
                     /translation="MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNV
                     VISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGE
                     SGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFG
                     KYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKL
                     ERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGN
                     VLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALN
                     VMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSF
                     EQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGIL
                     AMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHY
                     AGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQ
                     FKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAG
                     YAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRS
                     PKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCY
                     GKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPST
                     NVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKG
                     KKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRIL
                     LLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLV
                     SEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRY
                     KKKGSHCLEVTVQ"
     exon            378..493
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            494..588
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            589..693
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            694..740
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            741..804
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            805..903
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1007
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1155
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1274
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1361
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1427
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1532
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1533..1595
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..1796
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1797..2023
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2024..2224
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2225..2318
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2319..2468
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2469..2537
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2538..2612
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2613..2747
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2748..2854
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2855..2987
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2988..3140
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            3141..3268
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     exon            3269..3633
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3512..3517
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /note="hexamer: ATTAAA"
     polyA_site      3533
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /note="major polyA site"
     regulatory      3606..3611
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
                     /note="hexamer: AATAAA"
     polyA_site      3633
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; MIHC; MYHL"
ORIGIN      
        1 ctctcctggt ttgactggca cagggagcct gggctggaag aggcagcaaa agggaaaatc
       61 agaagagtgg acactggcaa gaggagggca gcctttttcc cagcttcctt gcaccatgga
      121 cagctcccat taagccacct ctccatcctg gggccaggac tcttatgccc cattcctgtc
      181 aaattgagat ttcatccacc attctccaag gacagtgaag ttatacccta gttccagtgt
      241 tgggatcagt ggcccctctg gacatgcctc tcctggaagg ttctgtgggg gtggaggatc
      301 ttgtcctcct ggaacccttg gtggaggagt cactgctcaa gaatcttcag cttcgctatg
      361 aaaacaagga gatttatacc tacattggga atgtggtgat ctcagtgaat ccctatcaac
      421 agcttcccat ctatgggcca gagttcattg ccaaatatca agactatact ttctatgagc
      481 tgaagcccca tatctacgca ttggcaaatg tggcgtacca gtcactgagg gacagggacc
      541 gagaccagtg tatcctcatc acaggcgaga gtggatcagg gaagactgag gccagcaagc
      601 tggtgatgtc ttatgtggct gccgtctgtg ggaaaggaga gcaggtgaac tctgtgaagg
      661 agcagctgct acagtctaac ccagtgctgg aggcttttgg caatgccaag accattcgca
      721 acaacaattc ctcccgattt ggaaaataca tggatattga atttgacttc aagggatccc
      781 ccctcggtgg tgtcatcaca aactatctgc ttgagaaatc ccgattagtg aagcagctca
      841 aaggagaaag gaacttccac atcttctatc agctgctggc tggagcagat gaacagctgc
      901 tgaaggccct gaagcttgag cgggatacaa ctggctatgc ctatctgaat catgaagtat
      961 ccagagtgga tggcatggac gacgcctcca gcttcagggc tgtacagagt gcaatggcag
     1021 tgattgggtt ctcggaggag gagattcgac aagtgctaga ggtgacatcc atggtgctaa
     1081 agctggggaa cgtgttggtg gctgatgagt tccaggccag tgggatacca gcaagtggca
     1141 tccgtgatgg gagaggtgtt cgggagattg gggagatggt gggcttgaat tcagaagaag
     1201 tagagagagc tttgtgctcg aggaccatgg aaacagccaa ggaaaaggtg gtcactgcac
     1261 tgaatgttat gcaggctcag tatgctcggg acgccctggc taagaacatc tacagccgcc
     1321 tctttgactg gatagtgaat cgaatcaatg agagcatcaa ggtgggcatc ggggaaaaga
     1381 agaaggtaat gggagtcctt gatatctacg gttttgagat attagaggat aatagctttg
     1441 agcaatttgt gatcaactac tgcaatgaga agctgcagca ggtgttcata gagatgaccc
     1501 tgaaagaaga gcaagaggaa tataagagag aaggcatacc gtggacaaag gtggactact
     1561 ttgataatgg catcatttgt aagctcattg agcataatca gcgaggtatc ctggccatgt
     1621 tggatgagga gtgcctgcgg cctggggtgg tcagtgactc cactttccta gcaaagctga
     1681 accagctctt ctccaagcat ggccactacg agagcaaagt cacccagaat gcccagcgtc
     1741 agtatgacca caccatgggc ctcagctgct tccgcatctg ccactatgcg ggcaaggtga
     1801 catacaacgt gaccagcttt attgacaaga ataatgacct actcttccga gacctgttgc
     1861 aggccatgtg gaaggcccag caccccctcc ttcggtcctt gtttcctgag ggcaatccta
     1921 agcaggcatc tctcaaacgc cccccgactg ctggggccca gttcaagagt tctgtggcca
     1981 tcctcatgaa gaatctgtat tccaagagcc ccaactacat caggtgcata aagcccaatg
     2041 agcatcagca gcgaggtcag ttctcttcag acctggtggc aacccaggct cggtacctgg
     2101 gactgctgga gaacgtacgg gtgcgacggg caggctatgc ccaccgccag ggttatgggc
     2161 ccttcctgga aaggtaccga ttgctgagcc ggagcacctg gcctcactgg aatgggggag
     2221 accgggaagg tgttgagaag gtcctggggg agctgagcat gtcctcgggg gagctggcct
     2281 ttggcaagac aaagatcttc attagaagcc ccaagactct tttctacctc gaagaacaga
     2341 ggcgcctgag actccagcag ctggccacac tcatacagaa gatttaccga ggctggcgct
     2401 gccgcaccca ctaccaactg atgcgaaaga gtcagatcct catctcctct tggtttcggg
     2461 gaaacatgca aaagaaatgc tatgggaaga taaaggcatc cgtgttattg atccaggctt
     2521 ttgtgagagg gtggaaggcc cgaaagaatt atcgcaaata tttccggtca gaggctgccc
     2581 tcaccttggc agatttcatc tacaagagca tggtacagaa attcctactg gggctgaaga
     2641 acaatttgcc atccacaaac gtcttagaca agacatggcc agccgccccc tacaagtgcc
     2701 tcagcacagc aaatcaggag ctgcagcagc tcttctacca gtggaagtgc aagaggttcc
     2761 gggatcagct gtccccgaag caggtagaga tcctgaggga aaagctctgt gccagtgaac
     2821 tgttcaaggg caagaaggct tcatatcccc agagtgtccc cattccattc tgtggtgact
     2881 acattgggct gcaagggaac cccaagctgc agaagctgaa aggcggggag gaggggcctg
     2941 ttctgatggc agaggccgtg aagaaggtca atcgtggcaa tggcaagact tcttctcgga
     3001 ttctcctcct gaccaagggc catgtgattc tcacagacac caagaagtcc caggccaaaa
     3061 ttgtcattgg gctagacaat gtggctgggg tgtcagtcac cagcctcaag gatgggctct
     3121 ttagcttgca tctgagtgag atgtcatcgg tgggctccaa gggggacttc ctgctggtca
     3181 gcgagcatgt gattgaactg ctgaccaaaa tgtaccgggc tgtgctggat gccacgcaga
     3241 ggcagcttac agtcaccgtg actgagaagt tctcagtgag gttcaaggag aacagtgtgg
     3301 ctgtcaaggt cgtccagggc cctgcaggtg gtgacaacag caagctacgc tacaaaaaaa
     3361 aggggagtca ttgcttggag gtgactgtgc agtgaggagg gggcaccatg cagagatggc
     3421 agttgcttcc tcctgaacca gcactaatcc ccctctgccc tcctgtgtgg gaggatctct
     3481 aacccctctg atcgtggcgc atggcttggg gattaaacta cccttgaaga ggacccttgt
     3541 cccaaaccct tcttgttctc tcctccaaaa gtagcttcct ccaacccgca gcctctctgc
     3601 acactaataa aacatgtggc ttggaaaggt tca
//
