Version 5.4
Homo sapiens Protein: MLPH
Summary
InnateDB Protein IDBP-292866.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MLPH
Protein Name melanophilin
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000386780
InnateDB Gene IDBG-84278 (MLPH)
Protein Structure
UniProt Annotation
Function Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. {ECO:0000269PubMed:12062444}.
Subcellular Localization Cytoplasm.
Disease Associations Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. {ECO:0000269PubMed:12897212}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0017137 Rab GTPase binding
GO:0046872 metal ion binding
Biological Process
GO:0006886 intracellular protein transport
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR010911 Zinc finger, FYVE-type
IPR011011 Zinc finger, FYVE/PHD-type
PFAM PF02318
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BV36
PhosphoSite PhosphoSite-Q9BV36
TrEMBL C9JKV5
UniProt Splice Variant
Entrez Gene 79083
UniGene Hs.102406
RefSeq NP_001268402
HUGO HGNC:29643
OMIM 606526
CCDS CCDS63173
HPRD 09409
IMGT
EMBL AC104667 AC112721 AK022207 AK225381 AK296745 BC001653 BC051269
GenPept AAH01653 AAH51269 BAB13984 BAG59329

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca