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    MYO3A myosin IIIA [ Homo sapiens (human) ]

    Gene ID: 53904, updated on 25-May-2017
    Official Symbol
    MYO3Aprovided by HGNC
    Official Full Name
    myosin IIIAprovided by HGNC
    Primary source
    HGNC:HGNC:7601
    See related
    Ensembl:ENSG00000095777 MIM:606808; Vega:OTTHUMG00000017837
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB30
    Summary
    The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    10p12.1
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (25934073..26212536)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (26223002..26501465)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376460 Neighboring gene uncharacterized LOC101929073 Neighboring gene glutamate decarboxylase 2 Neighboring gene uncharacterized LOC107984176

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Deafness, autosomal recessive 30 Compare labs

    NHGRI GWAS Catalog

    Description
    Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microfilament motor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    plus-end directed microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    filamentous actin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    myosin-IIIa
    NP_059129.3
    XP_011517800.1
    XP_011517801.1
    XP_011517802.1
    XP_011517804.1
    XP_011517805.1
    XP_011517806.1
    XP_011517807.1
    XP_011517808.1
    XP_011517810.1
    XP_011517812.1
    XP_011517813.1
    XP_011517814.1
    XP_011517815.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011635.1 RefSeqGene

      Range
      5001..283464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017433.4NP_059129.3  myosin-IIIa

      See identical proteins and their annotated locations for NP_059129.3

      Status: REVIEWED

      Source sequence(s)
      AL162503, AL360217, AL391812, AY101367, CD628204, CD628208, CK903348
      Consensus CDS
      CCDS7148.1
      UniProtKB/Swiss-Prot
      Q8NEV4
      Related
      ENSP00000265944.4, OTTHUMP00000019339, ENST00000265944.9, OTTHUMT00000047259
      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      25934073..26212536
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519504.1XP_011517806.1  myosin-IIIa isoform X4

      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    2. XM_011519505.1XP_011517807.1  myosin-IIIa isoform X5

      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    3. XM_011519503.1XP_011517805.1  myosin-IIIa isoform X3

      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    4. XM_011519502.1XP_011517804.1  myosin-IIIa isoform X2

      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    5. XM_011519506.2XP_011517808.1  myosin-IIIa isoform X6

      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    6. XM_011519510.1XP_011517812.1  myosin-IIIa isoform X8

      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    7. XM_011519508.2XP_011517810.1  myosin-IIIa isoform X7

      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    8. XM_011519511.2XP_011517813.1  myosin-IIIa isoform X9

      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371000
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521007
      MYSc_Myo3; class III myosin, motor domain
    9. XM_011519500.2XP_011517802.1  myosin-IIIa isoform X1

      See identical proteins and their annotated locations for XP_011517802.1

      UniProtKB/Swiss-Prot
      Q8NEV4
      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    10. XM_011519498.2XP_011517800.1  myosin-IIIa isoform X1

      See identical proteins and their annotated locations for XP_011517800.1

      UniProtKB/Swiss-Prot
      Q8NEV4
      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    11. XM_011519499.1XP_011517801.1  myosin-IIIa isoform X1

      See identical proteins and their annotated locations for XP_011517801.1

      UniProtKB/Swiss-Prot
      Q8NEV4
      Conserved Domains (4) summary
      cd06638
      Location:2287
      STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin
      smart00220
      Location:21287
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00242
      Location:3371053
      MYSc; Myosin. Large ATPases
      cd01379
      Location:3521041
      MYSc_Myo3; class III myosin, motor domain
    12. XM_011519512.1XP_011517814.1  myosin-IIIa isoform X10

      Conserved Domains (2) summary
      smart00015
      Location:457477
      IQ; Calmodulin-binding motif
      cl22853
      Location:12417
      Motor_domain; Myosin and Kinesin motor domain
    13. XM_011519513.2XP_011517815.1  myosin-IIIa isoform X11

      Conserved Domains (2) summary
      smart00015
      Location:304324
      IQ; Calmodulin-binding motif
      cl22853
      Location:1264
      Motor_domain; Myosin and Kinesin motor domain

    RNA

    1. XR_930493.1 RNA Sequence

    2. XR_001747111.1 RNA Sequence

    3. XR_930494.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      26223961..26502366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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