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 enable actin filament binding activity and microfilament motor activity. Acts upstream of or within several processes, including auditory behavior; neuron differentiation; and regulation of Rho protein signal transduction. Predicted to be located in cytoskeleton and plasma membrane bounded cell projection. Predicted to be part of myosin complex. Predicted to be active in several cellular components, including actin cytoskeleton; cytoplasm; and microvillus. Is expressed in brain; otic vesicle; sensory system; and tether cell. Used to study Usher syndrome type 1. 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
Comparative Information
Expression
All Expression Data
10 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 8 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
hn13Allele with one delinsExon 6UnknownCRISPR
hn14Allele with one delinsUnknownUnknownCRISPR
ihb221Allele with one insertionUnknownUnknownCRISPR
ihb222Allele with one delinsUnknownUnknownCRISPR
sa11378Allele with one point mutationUnknownPremature StopENU
sa16521Allele with one point mutationUnknownPremature StopENU
sa23224Allele with one point mutationUnknownSplice SiteENU
sa28973Allele with one point mutationUnknownSplice SiteENU
sa28974Allele with one point mutationUnknownPremature StopENU
sa36565Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
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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
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Associated With myo7aa Via Experimental Models
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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-like
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Domain Details Per Protein
Protein Additional Resources 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 head, motor domain-like 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 InterPro 2185
UniProtKB:Q9DGG9 InterPro 2179
UniProtKB:A0AB32T794 InterPro 2232
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 18
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
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Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
ab1-myo7aa polyclonal Rabbit
  • IHC
  • WB
1
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Plasmids
No data available
Constructs
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-135H6ZFIN Curated Data
EncodescDNAMGC:195128ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanMYO7A11
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Nucleotide sequence comparison (1)
MouseMyo7a7
Amino acid sequence comparison (1)
Nucleotide sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
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