Homo sapiens Gene: MLPH
Summary
InnateDB Gene IDBG-84278.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MLPH
Gene Name melanophilin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000115648
Encoded Proteins
melanophilin
melanophilin
melanophilin
melanophilin
melanophilin
melanophilin
melanophilin
melanophilin
melanophilin
melanophilin
melanophilin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:237485428-237555318
Strand Forward strand
Band q37.3
Transcripts
ENST00000338530 ENSP00000341845
ENST00000264605 ENSP00000264605
ENST00000410032 ENSP00000386338
ENST00000409373 ENSP00000386780
ENST00000422695 ENSP00000409170
ENST00000429898 ENSP00000403909
ENST00000437893 ENSP00000412438
ENST00000436965 ENSP00000405337
ENST00000415753 ENSP00000409897
ENST00000432475 ENSP00000393010
ENST00000434770 ENSP00000399081
ENST00000468178
ENST00000477222
ENST00000469619
ENST00000477501
ENST00000495439
ENST00000464123
ENST00000478712
ENST00000494110
ENST00000485956
ENST00000482528
ENST00000477457
ENST00000489967
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:0003779 actin binding
GO:0005515 protein binding
GO:0017022 myosin binding
GO:0017137 Rab GTPase binding
GO:0031489 myosin V binding
GO:0046872 metal ion binding
GO:0051010 microtubule plus-end binding
Biological Process
GO:0006605 protein targeting
GO:0006886 intracellular protein transport
GO:0030318 melanocyte differentiation
GO:0032400 melanosome localization
GO:0043473 pigmentation
Cellular Component
GO:0001725 stress fiber
GO:0005815 microtubule organizing center
GO:0015629 actin cytoskeleton
GO:0030864 cortical actin cytoskeleton
GO:0035371 microtubule plus-end
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.102406
RefSeq NM_001042467 NM_001281473 NM_001281474 NM_024101
HUGO
OMIM
CCDS CCDS2518 CCDS42836 CCDS63172 CCDS63173
HPRD 09409
IMGT
EMBL
GenPept
RNA Seq Atlas