LOCUS       NP_005370               1043 aa            linear   PRI 18-APR-2025
DEFINITION  unconventional myosin-Ia [Homo sapiens].
ACCESSION   NP_005370
VERSION     NP_005370.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 1043)
  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  (residues 1 to 1043)
  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  (residues 1 to 1043)
  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  (residues 1 to 1043)
  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  (residues 1 to 1043)
  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  (residues 1 to 1043)
  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  (residues 1 to 1043)
  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  (residues 1 to 1043)
  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  (residues 1 to 1043)
  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 (residues 1 to 1043)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..1043
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     Protein         1..1043
                     /product="unconventional myosin-Ia"
                     /note="myosin I heavy chain; myosin, heavy
                     polypeptide-like (100kD); brush border myosin I; myosin,
                     heavy polypeptide-like 110kDa"
                     /calculated_mol_wt=118270
     Region          22..681
                     /region_name="MYSc_Myo1"
                     /note="class I myosin, motor domain; cd01378"
                     /db_xref="CDD:276829"
     Site            order(49..52,57,101..108,148..158,380..385)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276829"
     Site            order(49..52,57)
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276829"
     Site            101..108
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276829"
     Site            148..158
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276829"
     Site            380..385
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276829"
     Site            order(409..420,423..430,432)
                     /site_type="other"
                     /note="relay loop"
                     /db_xref="CDD:276829"
     Region          571..593
                     /region_name="Actin-binding. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBC5.1)"
     Site            613..623
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276829"
     Site            order(625..651,668..681)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276829"
     Region          742..764
                     /region_name="IQ"
                     /note="Calmodulin-binding motif; smart00015"
                     /db_xref="CDD:197470"
     Region          847..1042
                     /region_name="Myosin_TH1"
                     /note="Unconventional myosin tail, actin- and
                     lipid-binding; pfam06017"
                     /db_xref="CDD:461801"
     CDS             1..1043
                     /gene="MYO1A"
                     /gene_synonym="BBMI; DFNA48; DIAR15; MIHC; MYHL"
                     /coded_by="NM_005379.4:264..3395"
                     /db_xref="CCDS:CCDS8929.1"
                     /db_xref="GeneID:4640"
                     /db_xref="HGNC:HGNC:7595"
                     /db_xref="MIM:601478"
ORIGIN      
        1 mpllegsvgv edlvlleplv eesllknlql ryenkeiyty ignvvisvnp yqqlpiygpe
       61 fiakyqdytf yelkphiyal anvayqslrd rdrdqcilit gesgsgktea sklvmsyvaa
      121 vcgkgeqvns vkeqllqsnp vleafgnakt irnnnssrfg kymdiefdfk gsplggvitn
      181 ylleksrlvk qlkgernfhi fyqllagade qllkalkler dttgyaylnh evsrvdgmdd
      241 assfravqsa mavigfseee irqvlevtsm vlklgnvlva defqasgipa sgirdgrgvr
      301 eigemvglns eeveralcsr tmetakekvv talnvmqaqy ardalakniy srlfdwivnr
      361 inesikvgig ekkkvmgvld iygfeiledn sfeqfvinyc neklqqvfie mtlkeeqeey
      421 kregipwtkv dyfdngiick liehnqrgil amldeeclrp gvvsdstfla klnqlfskhg
      481 hyeskvtqna qrqydhtmgl scfrichyag kvtynvtsfi dknndllfrd llqamwkaqh
      541 pllrslfpeg npkqaslkrp ptagaqfkss vailmknlys kspnyircik pnehqqrgqf
      601 ssdlvatqar ylgllenvrv rragyahrqg ygpfleryrl lsrstwphwn ggdregvekv
      661 lgelsmssge lafgktkifi rspktlfyle eqrrlrlqql atliqkiyrg wrcrthyqlm
      721 rksqilissw frgnmqkkcy gkikasvlli qafvrgwkar knyrkyfrse aaltladfiy
      781 ksmvqkfllg lknnlpstnv ldktwpaapy kclstanqel qqlfyqwkck rfrdqlspkq
      841 veilreklca selfkgkkas ypqsvpipfc gdyiglqgnp klqklkggee gpvlmaeavk
      901 kvnrgngkts srillltkgh viltdtkksq akivigldnv agvsvtslkd glfslhlsem
      961 ssvgskgdfl lvsehviell tkmyravlda tqrqltvtvt ekfsvrfken svavkvvqgp
     1021 aggdnsklry kkkgshclev tvq
//
