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    MYO3A myosin IIIA [ Homo sapiens (human) ]

    Gene ID: 53904, updated on 5-May-2024

    Summary

    Official Symbol
    MYO3Aprovided by HGNC
    Official Full Name
    myosin IIIAprovided by HGNC
    Primary source
    HGNC:HGNC:7601
    See related
    Ensembl:ENSG00000095777 MIM:606808; AllianceGenome:HGNC:7601
    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
    DFNA90; 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]
    Expression
    Biased expression in testis (RPKM 1.4), skin (RPKM 0.2) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MYO3A in Genome Data Viewer
    Location:
    10p12.1
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (25934229..26212532)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (25959075..26237044)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (26223158..26501461)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376460 Neighboring gene uncharacterized LOC101929073 Neighboring gene NANOG hESC enhancer GRCh37_chr10:26263803-26264349 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:26289384-26290583 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:26290901-26292100 Neighboring gene NANOG hESC enhancer GRCh37_chr10:26488725-26489248 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:26502717-26503284 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:26503285-26503850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:26503851-26504417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26507027-26507655 Neighboring gene glutamate decarboxylase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26726587-26727116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2235 Neighboring gene amyloid beta precursor protein binding family B member 1 interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3168 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:26778915-26779063 Neighboring gene RNA, 5S ribosomal pseudogene 307

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 30
    MedGen: C1846784 OMIM: 607101 GeneReviews: Genetic Hearing Loss Overview
    Compare labs
    Hearing loss, autosomal dominant 90
    MedGen: CN376841 OMIM: 620722 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microfilament motor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables plus-end directed microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cochlea morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of actin filament length IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of filamentous actin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in filopodium tip IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in filopodium tip IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of myosin complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in photoreceptor inner segment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in stereocilium tip IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in stereocilium tip ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    myosin-IIIa
    Names
    epididymis secretory sperm binding protein
    NP_001355194.1
    NP_059129.3
    XP_011517800.1
    XP_011517801.1
    XP_011517802.1
    XP_011517804.1
    XP_011517805.1
    XP_011517807.1
    XP_011517808.1
    XP_011517810.1
    XP_011517812.1
    XP_011517813.1
    XP_011517814.1
    XP_011517815.1
    XP_047281311.1
    XP_047281312.1
    XP_047281313.1
    XP_047281314.1
    XP_047281315.1
    XP_047281316.1
    XP_047281317.1
    XP_047281319.1
    XP_054222072.1
    XP_054222073.1
    XP_054222074.1
    XP_054222075.1
    XP_054222076.1
    XP_054222077.1
    XP_054222078.1
    XP_054222079.1
    XP_054222080.1
    XP_054222081.1
    XP_054222082.1
    XP_054222083.1
    XP_054222084.1
    XP_054222085.1
    XP_054222086.1
    XP_054222087.1
    XP_054222088.1
    XP_054222089.1
    XP_054222090.1
    XP_054222091.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5157..283460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1354

    mRNA and Protein(s)

    1. NM_001368265.1NP_001355194.1  myosin-IIIa isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL358612, BC036079
      Consensus CDS
      CCDS91223.1
      UniProtKB/TrEMBL
      Q86VY5
      Related
      ENSP00000365479.1, ENST00000376302.5
    2. NM_017433.5NP_059129.3  myosin-IIIa isoform 1

      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
      Q4G0X2, Q5VZ28, Q8NEV4, Q8WX17, Q9NYS8
      UniProtKB/TrEMBL
      A0A384MED1
      Related
      ENSP00000495965.1, ENST00000642920.2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      25934229..26212532
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519498.3XP_011517800.1  myosin-IIIa isoform X1

      See identical proteins and their annotated locations for XP_011517800.1

      UniProtKB/Swiss-Prot
      Q4G0X2, Q5VZ28, Q8NEV4, Q8WX17, Q9NYS8
      UniProtKB/TrEMBL
      A0A384MED1
      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_011519500.3XP_011517802.1  myosin-IIIa isoform X1

      See identical proteins and their annotated locations for XP_011517802.1

      UniProtKB/Swiss-Prot
      Q4G0X2, Q5VZ28, Q8NEV4, Q8WX17, Q9NYS8
      UniProtKB/TrEMBL
      A0A384MED1
      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_011519503.2XP_011517805.1  myosin-IIIa isoform X3

      UniProtKB/TrEMBL
      A0A384MED1
      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_011519505.2XP_011517807.1  myosin-IIIa isoform X6

      UniProtKB/TrEMBL
      A0A384MED1
      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_047425358.1XP_047281314.1  myosin-IIIa isoform X8

    6. XM_047425355.1XP_047281311.1  myosin-IIIa isoform X4

    7. XM_047425360.1XP_047281316.1  myosin-IIIa isoform X10

    8. XM_047425357.1XP_047281313.1  myosin-IIIa isoform X5

    9. XM_047425361.1XP_047281317.1  myosin-IIIa isoform X11

    10. XM_011519502.1XP_011517804.1  myosin-IIIa isoform X2

      UniProtKB/TrEMBL
      A0A384MED1
      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_047425359.1XP_047281315.1  myosin-IIIa isoform X9

    12. XM_047425363.1XP_047281319.1  myosin-IIIa isoform X13

    13. XM_011519506.3XP_011517808.1  myosin-IIIa isoform X7

      UniProtKB/TrEMBL
      A0A384MED1
      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
    14. XM_011519510.2XP_011517812.1  myosin-IIIa isoform X14

      Related
      ENST00000642197.1
      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
    15. XM_011519508.2XP_011517810.1  myosin-IIIa isoform X12

      UniProtKB/TrEMBL
      A0A384MED1
      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
    16. XM_011519511.3XP_011517813.1  myosin-IIIa isoform X15

      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
    17. XM_047425356.1XP_047281312.1  myosin-IIIa isoform X5

    18. XM_011519499.2XP_011517801.1  myosin-IIIa isoform X1

      See identical proteins and their annotated locations for XP_011517801.1

      UniProtKB/Swiss-Prot
      Q4G0X2, Q5VZ28, Q8NEV4, Q8WX17, Q9NYS8
      UniProtKB/TrEMBL
      A0A384MED1
      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
    19. XM_011519512.2XP_011517814.1  myosin-IIIa isoform X16

      Conserved Domains (2) summary
      smart00015
      Location:457477
      IQ; Calmodulin-binding motif
      cl22853
      Location:12417
      Motor_domain; Myosin and Kinesin motor domain
    20. XM_011519513.3XP_011517815.1  myosin-IIIa isoform X17

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

    RNA

    1. XR_930494.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      25959075..26237044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366098.1XP_054222073.1  myosin-IIIa isoform X1

    2. XM_054366101.1XP_054222076.1  myosin-IIIa isoform X3

    3. XM_054366105.1XP_054222080.1  myosin-IIIa isoform X6

    4. XM_054366107.1XP_054222082.1  myosin-IIIa isoform X8

    5. XM_054366102.1XP_054222077.1  myosin-IIIa isoform X4

    6. XM_054366109.1XP_054222084.1  myosin-IIIa isoform X10

    7. XM_054366103.1XP_054222078.1  myosin-IIIa isoform X5

    8. XM_054366110.1XP_054222085.1  myosin-IIIa isoform X11

    9. XM_054366100.1XP_054222075.1  myosin-IIIa isoform X2

    10. XM_054366108.1XP_054222083.1  myosin-IIIa isoform X9

    11. XM_054366112.1XP_054222087.1  myosin-IIIa isoform X13

    12. XM_054366106.1XP_054222081.1  myosin-IIIa isoform X7

    13. XM_054366113.1XP_054222088.1  myosin-IIIa isoform X14

    14. XM_054366111.1XP_054222086.1  myosin-IIIa isoform X12

    15. XM_054366114.1XP_054222089.1  myosin-IIIa isoform X15

    16. XM_054366099.1XP_054222074.1  myosin-IIIa isoform X1

    17. XM_054366104.1XP_054222079.1  myosin-IIIa isoform X5

    18. XM_054366097.1XP_054222072.1  myosin-IIIa isoform X1

    19. XM_054366115.1XP_054222090.1  myosin-IIIa isoform X16

    20. XM_054366116.1XP_054222091.1  myosin-IIIa isoform X17

    RNA

    1. XR_008488220.1 RNA Sequence