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 enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization and endocytosis. Predicted to be part of myosin complex. Predicted to be active in actin cytoskeleton; cytoplasm; and membrane. Is expressed in central nervous system; dorsolateral placode; intestine; neural tube; and neuron neural crest derived. Human ortholog(s) of this gene implicated in Griscelli syndrome type 1. Orthologous to human MYO5A (myosin VA).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Griscelli syndrome type 1 | Alliance | Griscelli syndrome, type 1 | 214450 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR000048 | IQ motif, EF-hand binding site |
| Domain | IPR001609 | Myosin head, motor domain-like |
| 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 | Additional Resources | 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-like | Myosin, N-terminal, SH3-like | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AJS5 | InterPro | 1846 | ||||||||
| UniProtKB:A0A8M2BKY7 | InterPro | 1828 | ||||||||
| UniProtKB:A0A8M9PPP8 | InterPro | 1850 | ||||||||
| UniProtKB:A0A8M3B332 | InterPro | 1825 | ||||||||
| UniProtKB:A0A8M9PW04 | InterPro | 1849 | ||||||||
| UniProtKB:A0A8M2BKY1 | InterPro | 1827 | ||||||||
| UniProtKB:A0A8M9P1G5 | InterPro | 1368 | ||||||||
| UniProtKB:A0A8M9PAJ4 | InterPro | 1340 | ||||||||
| UniProtKB:A0A8M9PPQ8 | InterPro | 1854 | ||||||||
| UniProtKB:A0A8M3AV30 | InterPro | 1848 | ||||||||
| UniProtKB:A0A8M3AS48 | InterPro | 1847 | ||||||||
| UniProtKB:A0AB32TCA0 | InterPro | 1892 | ||||||||
| UniProtKB:A0AB32TCA7 | InterPro | 1870 | ||||||||
| UniProtKB:A0AB32TJP6 | InterPro | 1890 | ||||||||
| UniProtKB:A0AB32TM90 | InterPro | 1824 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
myo5aa-201
(1)
|
Ensembl | 5,535 nt | ||
| mRNA |
myo5aa-202
(1)
|
Ensembl | 5,535 nt | ||
| mRNA |
myo5aa-203
(1)
|
Ensembl | 844 nt | ||
| mRNA |
myo5aa-204
(1)
|
Ensembl | 5,735 nt | ||
| mRNA |
myo5aa-206
(1)
|
Ensembl | 5,809 nt | ||
| ncRNA |
myo5aa-005
(1)
|
Ensembl | 815 nt |
Interactions and Pathways
No data available
Plasmids
No data available