Gene
mlphb
- ID
- ZDB-GENE-070803-2
- Name
- melanophilin b
- Symbol
- mlphb Nomenclature History
- Previous Names
-
- mlph (1)
- mlpha
- si:dkeyp-74a11.9
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have Rab GTPase binding activity; actin binding activity; and myosin binding activity. Predicted to be involved in intracellular protein transport. Predicted to localize to cortical actin cytoskeleton. Human ortholog(s) of this gene implicated in Griscelli syndrome type 3. Orthologous to human MLPH (melanophilin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 3 | Alliance | Griscelli syndrome, type 3 | 609227 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR006788 | Rab effector MyRIP/Melanophilin |
| Domain | IPR010911 | Rab-binding domain |
| Domain | IPR037442 | Melanophilin, FYVE-related domain |
| Domain | IPR041282 | FYVE-type zinc finger |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Domain Details Per Protein
| Protein | Length | FYVE-type zinc finger | Melanophilin, FYVE-related domain | Rab-binding domain | Rab effector MyRIP/Melanophilin | Zinc finger, FYVE/PHD-type | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PST1
|
578 | ||||||
|
UniProtKB:A0A8M9QFY9
|
579 | ||||||
|
UniProtKB:A0A8M9Q520
|
548 |
Interactions and Pathways
No data available
Plasmids
No data available