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MYO3A myosin IIIA [ Homo sapiens (human) ]

Gene ID: 53904, updated on 18-Sep-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
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Genomic context

See MYO3A in Genome Data Viewer
Location:
10p12.1
Exon count:
43
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (25934229..26212532)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (25959075..26237044)
RS_2024_09 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 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 ATP hydrolysis activity 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 histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
more info
 
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 chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in cochlea morphogenesis ISS
Inferred from Sequence or Structural Similarity
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_2024_08

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

    UniProtKB/TrEMBL
    A0A384MED1
  6. XM_047425355.1XP_047281311.1  myosin-IIIa isoform X4

    UniProtKB/TrEMBL
    A0A384MED1
  7. XM_047425360.1XP_047281316.1  myosin-IIIa isoform X10

    UniProtKB/TrEMBL
    A0A384MED1
  8. XM_047425357.1XP_047281313.1  myosin-IIIa isoform X5

    UniProtKB/TrEMBL
    A0A384MED1
  9. XM_047425361.1XP_047281317.1  myosin-IIIa isoform X11

    UniProtKB/TrEMBL
    A0A384MED1
  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

    UniProtKB/TrEMBL
    A0A384MED1
  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

    UniProtKB/TrEMBL
    A0A384MED1
  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

    UniProtKB/TrEMBL
    A0A384MED1
  2. XM_054366101.1XP_054222076.1  myosin-IIIa isoform X3

    UniProtKB/TrEMBL
    A0A384MED1
  3. XM_054366105.1XP_054222080.1  myosin-IIIa isoform X6

    UniProtKB/TrEMBL
    A0A384MED1
  4. XM_054366107.1XP_054222082.1  myosin-IIIa isoform X8

    UniProtKB/TrEMBL
    A0A384MED1
  5. XM_054366102.1XP_054222077.1  myosin-IIIa isoform X4

    UniProtKB/TrEMBL
    A0A384MED1
  6. XM_054366109.1XP_054222084.1  myosin-IIIa isoform X10

    UniProtKB/TrEMBL
    A0A384MED1
  7. XM_054366103.1XP_054222078.1  myosin-IIIa isoform X5

    UniProtKB/TrEMBL
    A0A384MED1
  8. XM_054366110.1XP_054222085.1  myosin-IIIa isoform X11

    UniProtKB/TrEMBL
    A0A384MED1
  9. XM_054366100.1XP_054222075.1  myosin-IIIa isoform X2

    UniProtKB/TrEMBL
    A0A384MED1
  10. XM_054366108.1XP_054222083.1  myosin-IIIa isoform X9

    UniProtKB/TrEMBL
    A0A384MED1
  11. XM_054366112.1XP_054222087.1  myosin-IIIa isoform X13

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

    UniProtKB/TrEMBL
    A0A384MED1
  13. XM_054366113.1XP_054222088.1  myosin-IIIa isoform X14

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

    UniProtKB/TrEMBL
    A0A384MED1
  15. XM_054366114.1XP_054222089.1  myosin-IIIa isoform X15

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

    UniProtKB/TrEMBL
    A0A384MED1
  17. XM_054366104.1XP_054222079.1  myosin-IIIa isoform X5

    UniProtKB/TrEMBL
    A0A384MED1
  18. XM_054366097.1XP_054222072.1  myosin-IIIa isoform X1

    UniProtKB/TrEMBL
    A0A384MED1
  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