Gene

mlpha

ID
ZDB-GENE-050208-724
Name
melanophilin a
Symbol
mlpha Nomenclature History
Previous Names
  • mlphb
  • si:ch211-186m12.3 (1)
  • zgc:154096
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Predicted to have Rab GTPase binding activity; actin binding activity; and myosin binding activity. Involved in pigment granule dispersal. Predicted to localize to cortical actin cytoskeleton. Human ortholog(s) of this gene implicated in Griscelli syndrome type 3. Is expressed in melanocyte. Orthologous to human MLPH (melanophilin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Sheets et al., 2007
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mlpha Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Griscelli syndrome type 3 Alliance Griscelli syndrome, type 3 609227
Associated With mlpha Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:Q05AI5 503
UniProtKB:A0A8M2BGK5 575
UniProtKB:E7F2P6 518
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