Protein Summary
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]
- ENST00000264605
- ENSP00000264605
- ENSG00000115648
- ENST00000338530
- ENSP00000341845
- ENST00000409373
- ENSP00000386780
- ENST00000410032
- ENSP00000386338
- SLAC2A
- SLAC2-A
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 | ||
Protein Classes
IDG Development Level Summary
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)
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
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
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)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (57)
RAB27A
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
Nearest Tclin Targets
Pathways (1)
WikiPathways (1)
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
WikiPathways | Deregulation of Rab and Rab Effector Genes in Bladder Cancer | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Deregulation of Rab and Rab Effector Genes in Bladder Cancer | ||||
Viral Interactions (0)
Gene Ontology Terms (11)
Functions (5)
Components (4)
Processes (2)
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 ()
GWAS Traits (4)
Items per page:
1 – 4 of 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 | ||||
Items per page:
1 – 4 of 4
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
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
Related Publications
Text Mined References (29)
GeneRif Annotations (14)
Items per page:
0 of 0
PMID | Year | Title |
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