InnateDB Protein
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IDBP-292866.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MLPH
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Protein Name
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melanophilin
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000386780
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InnateDB Gene
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IDBG-84278 (MLPH)
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Protein Structure
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Function |
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. {ECO:0000269PubMed:12062444}.
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Subcellular Localization |
Cytoplasm.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
13
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR010911
Zinc finger, FYVE-type
IPR011011
Zinc finger, FYVE/PHD-type
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PFAM |
PF02318
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BV36
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PhosphoSite |
PhosphoSite-Q9BV36
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TrEMBL |
C9JKV5
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UniProt Splice Variant |
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Entrez Gene |
79083
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UniGene |
Hs.102406
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RefSeq |
NP_001268402
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HUGO |
HGNC:29643
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OMIM |
606526
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CCDS |
CCDS63173
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HPRD |
09409
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IMGT |
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EMBL |
AC104667
AC112721
AK022207
AK225381
AK296745
BC001653
BC051269
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GenPept |
AAH01653
AAH51269
BAB13984
BAG59329
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