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MYO3A myosin IIIA [ Homo sapiens (human) ]

Gene ID: 53904, updated on 26-May-2016
Official Symbol
MYO3Aprovided by HGNC
Official Full Name
myosin IIIAprovided by HGNC
Primary source
HGNC:HGNC:7601
See related
Ensembl:ENSG00000095777 HPRD:06008; 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:
10p11.1
Exon count:
46
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105376459 Neighboring gene uncharacterized LOC105376458 Neighboring gene glutamate decarboxylase 2 Neighboring gene amyloid beta precursor protein binding family B member 1 interacting protein Neighboring gene RNA, 5S ribosomal pseudogene 307

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
 

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, OTTHUMP00000019339, ENST00000265944, 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011519500.1XP_011517802.1  

    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
  2. XM_011519501.1XP_011517803.1  

    See identical proteins and their annotated locations for XP_011517803.1

    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
  3. XM_011519504.1XP_011517806.1  

    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
  4. XM_011519505.1XP_011517807.1  

    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
  5. XM_011519503.1XP_011517805.1  

    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
  6. XM_011519502.1XP_011517804.1  

    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
  7. XM_011519506.1XP_011517808.1  

    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
  8. XM_011519510.1XP_011517812.1  

    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
  9. XM_011519508.1XP_011517810.1  

    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
  10. XM_011519509.1XP_011517811.1  

    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
  11. XM_011519511.1XP_011517813.1  

    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:3371000
    MYSc; Myosin. Large ATPases
    cd01379
    Location:3521007
    MYSc_Myo3; class III myosin, motor domain
  12. XM_011519498.1XP_011517800.1  

    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
  13. XM_011519499.1XP_011517801.1  

    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
  14. XM_011519507.1XP_011517809.1  

    Conserved Domains (4) summary
    smart00220
    Location:1166
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:216932
    MYSc; Myosin. Large ATPases
    cl21453
    Location:1166
    PKc_like; Protein Kinases, catalytic domain
    cd01379
    Location:231920
    MYSc_Myo3; class III myosin, motor domain
  15. XM_011519512.1XP_011517814.1  

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

    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_930492.1 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)