Version 5.4
Bos taurus Gene: BT.29245
Summary
InnateDB Gene IDBG-642138.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BT.29245
Gene Name melanophilin
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000000634
Encoded Proteins
IDBP-694564
melanophilin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000115648:
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 3:117584073-117637812
Strand Forward strand
Band
Transcripts
ENSBTAT00000000837 ENSBTAP00000000837
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Predicted by orthology
Total 7 [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: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
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000115648
View Gene Order
ENSMUSG00000026303
View Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.29245
RefSeq NM_001081597
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

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