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MYO3A myosin IIIA [ Homo sapiens (human) ]

Gene ID: 53904, updated on 3-Mar-2019

Summary

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

Genomic context

See MYO3A in Genome Data Viewer
Location:
10p12.1
Exon count:
43
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 binding IPI
Inferred from Physical Interaction
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
cochlea morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
filamentous actin IDA
Inferred from Direct Assay
more info
PubMed 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
filopodium tip IDA
Inferred from Direct Assay
more info
PubMed 
myosin complex IEA
Inferred from Electronic Annotation
more info
 
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_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

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL358612, BC036079
  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
    Q8NEV4
    Related
    ENSP00000495965.1, ENST00000642920.1
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 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_011519510.2XP_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

    Related
    ENST00000647478.1
  3. XR_930494.1 RNA Sequence

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