Gene

myo7aa

ID
ZDB-GENE-020709-1
Name
myosin VIIAa
Symbol
myo7aa Nomenclature History
Previous Names
  • myo7a
  • mar
  • mariner
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Predicted to have actin filament binding activity; actin-dependent ATPase activity; and microfilament motor activity. Involved in several processes, including detection of mechanical stimulus involved in sensory perception; neuron differentiation; and protein localization to cilium. Predicted to localize to several cellular components, including actin cytoskeleton; microvillus; and vesicle. Is expressed in brain; otic vesicle; sensory system; and tether cell. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Usher syndrome (multiple); auditory system disease (multiple); and congenital nystagmus. Orthologous to human MYO7A (myosin VIIA).
Genome Resources
Note
None
Expression
All Expression Data
9 figures from 6 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
10 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With myo7aa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant nonsyndromic deafness 11 Alliance Deafness, autosomal dominant 11 601317
autosomal recessive nonsyndromic deafness 2 Alliance Deafness, autosomal recessive 2 600060
Usher syndrome type 1 Alliance Usher syndrome, type 1B 276900
Associated With myo7aa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR000048 IQ motif, EF-hand binding site
Domain IPR000299 FERM domain
Domain IPR000857 MyTH4 domain
Domain IPR001452 SH3 domain
Domain IPR001609 Myosin head, motor domain
Domain IPR019748 FERM central domain
Domain IPR019749 Band 4.1 domain
Domain IPR036106 Class VII myosin, motor domain
Domain IPR041793 Myosin VII, FERM domain C-lobe, repeat 1
Domain IPR041794 Myosin VII, FERM domain C-lobe, repeat 2
Homologous_superfamily IPR008989 Myosin S1 fragment, N-terminal
Homologous_superfamily IPR011993 PH-like domain superfamily
Homologous_superfamily IPR014352 FERM/acyl-CoA-binding protein superfamily
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR029071 Ubiquitin-like domain superfamily
Homologous_superfamily IPR035963 FERM superfamily, second domain
Homologous_superfamily IPR036028 SH3-like domain superfamily
Homologous_superfamily IPR036961 Kinesin motor domain superfamily
Homologous_superfamily IPR038185 MyTH4 domain superfamily
Domain Details Per Protein
Protein Length Band 4.1 domain Class VII myosin, motor domain FERM/acyl-CoA-binding protein superfamily FERM central domain FERM domain FERM superfamily, second domain IQ motif, EF-hand binding site Kinesin motor domain superfamily Myosin head, motor domain Myosin S1 fragment, N-terminal Myosin VII, FERM domain C-lobe, repeat 1 Myosin VII, FERM domain C-lobe, repeat 2 MyTH4 domain MyTH4 domain superfamily PH-like domain superfamily P-loop containing nucleoside triphosphate hydrolase SH3 domain SH3-like domain superfamily Ubiquitin-like domain superfamily
UniProtKB:A0A0U5F744 288
UniProtKB:B3DJQ7 2179
UniProtKB:Q9DGG9 2179
UniProtKB:Q9DGG8 2179
UniProtKB:A0A286Y9F5 2190
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
ab1-myo7aa polyclonal Rabbit
  • IHC
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations