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 ATP binding activity; actin filament binding activity; and 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 myosin complex. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Usher syndrome (multiple); auditory system disease (multiple); and congenital nystagmus. Is expressed in brain; otic vesicle; sensory system; and tether cell. Orthologous to human MYO7A (myosin VIIA).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
17 figures from 7 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
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 IPR002404 IRS-type PTB 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
Family IPR051567 Unconventional Myosin ATPase
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 IRS-type PTB domain Kinesin motor domain superfamily 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 Unconventional Myosin ATPase
UniProtKB:A0A8M9P9W0 2185
UniProtKB:Q9DGG9 2179
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA myo7aa-201 (1) Ensembl 6,781 nt
mRNA myo7aa-202 (1) Ensembl 7,561 nt
mRNA myo7aa-203 (1) Ensembl 6,651 nt
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations