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Tbio
MLPH
Melanophilin

Protein Summary
Description
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. 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 encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000264605
  • ENSP00000264605
  • ENSG00000115648
  • ENST00000338530
  • ENSP00000341845
  • ENST00000409373
  • ENSP00000386780
  • ENST00000410032
  • ENSP00000386338

Symbol
  • SLAC2A
  • SLAC2-A
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.98
virus perturbation
0.94
cellular component
0.9
microRNA
0.81
PubMedID
0.78


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 59.35   (req: < 5)
Gene RIFs: 14   (req: <= 3)
Antibodies: 208   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 59.35   (req: >= 5)
Gene RIFs: 14   (req: > 3)
Antibodies: 208   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (57)
BTRC
Tbio
Novelty:  0.00293475
p_int:  0.999999999
Score:  0.188
Data Source:  BioPlex,STRINGDB
RAB27A
Tchem
Family:  Enzyme
Novelty:  0.00369416
p_int:  0.998536099
p_ni:  0.001463862
p_wrong:  3.9e-8
Score:  0.993
Data Source:  BioPlex,STRINGDB
GOPC
Tbio
Novelty:  0.01110168
p_int:  0.872682016
p_ni:  0.127317983
Data Source:  BioPlex
MYO5A
Tbio
Novelty:  0.00373224
Score:  0.981
Data Source:  STRINGDB
RAB27B
Tbio
Family:  Enzyme
Novelty:  0.01530218
Score:  0.968
Data Source:  STRINGDB
RILPL2
Tbio
Novelty:  0.08600022
Score:  0.842
Data Source:  STRINGDB
SYTL2
Tbio
Novelty:  0.06704802
Score:  0.761
Data Source:  STRINGDB
MREG
Tbio
Novelty:  0.02056739
Score:  0.723
Data Source:  STRINGDB
EXPH5
Tbio
Novelty:  0.07504682
Score:  0.72
Data Source:  STRINGDB
MYO5B
Tbio
Novelty:  0.01302142
Score:  0.704
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (11)
Find Similar Targets
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Disease Associations ()
No disease associations found
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intraocular pressure measurement
2
3
3
79.2
heel bone mineral density
3
2
4
78.2
5
4
0
1.1
64.8
central corneal thickness
1
1
0
1.6
17.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intraocular pressure measurement
3
79.2
heel bone mineral density
4
78.2
0
1.1
64.8
central corneal thickness
0
1.6
17.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
melanophilin
VGNC:14155
460048
Mouse
MGI:2176380
171531
Rat
RGD:1310733
316620
Dog
melanophilin
VGNC:43265
607077
Horse
melanophilin
VGNC:20213
100066385
Species
Name
OMA
EggNOG
Inparanoid
Chimp
melanophilin
Mouse
Rat
Dog
melanophilin
Horse
melanophilin
Publication Statistics
PubMed Score 59.35
PubMed score by year
PubTator Score 33.88
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title