Gene

myo5aa

ID
ZDB-GENE-041027-2
Name
myosin VAa
Symbol
myo5aa Nomenclature History
Previous Names
  • myo5a
  • si:dkey-266j9.1
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Predicted to have ATP binding activity; actin filament binding activity; and motor activity. Predicted to localize to myosin complex. Human ortholog(s) of this gene implicated in Griscelli syndrome type 1. Is expressed in central nervous system; dorsolateral placode; intestine; neural tube; and neuron neural crest derived. Orthologous to human MYO5A (myosin VA).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With myo5aa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Griscelli syndrome type 1 Alliance Griscelli syndrome, type 1 214450
Associated With myo5aa 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 IPR001609 Myosin head, motor domain
Domain IPR002710 Dilute domain
Domain IPR004009 Myosin, N-terminal, SH3-like
Domain IPR036103 Class V myosin, motor domain
Domain IPR037988 Myosin 5a, cargo-binding domain
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036961 Kinesin motor domain superfamily
Domain Details Per Protein
Protein Length Class V myosin, motor domain Dilute domain IQ motif, EF-hand binding site Kinesin motor domain superfamily Myosin 5a, cargo-binding domain Myosin head, motor domain Myosin, N-terminal, SH3-like P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A8M3AJS5 1846
UniProtKB:A0A8M2BKY7 1828
UniProtKB:A0A8M9PPP8 1850
UniProtKB:A0A8M3B332 1825
UniProtKB:A0A8M9PW04 1849
UniProtKB:A0A8M2BKY1 1827
UniProtKB:A0A8M9P1G5 1368
UniProtKB:A0A8M9PAJ4 1340
UniProtKB:A0A8M9PPQ8 1854
UniProtKB:A0A8M3AV30 1848
UniProtKB:A0A8M3AS48 1847
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations