InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MLPH

Summary

InnateDB Protein

IDBP-84282.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MLPH

Protein Name

melanophilin

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000264605

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: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