MLPH - melanophilin Gene
Also Known as SLAC2-A
Species: Homo sapiens
About MLPH
This gene has 23 transcripts (splice variants), 262 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in stomach (RPKM 28.6), prostate (RPKM 26.5) and 12 other tissues.
Summary
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]
MLPH Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001042467.3 | NP_001035932.1 | melanophilin isoform 2 |
| NM_001281473.2 | NP_001268402.1 | melanophilin isoform 3 |
| NM_001281474.2 | NP_001268403.1 | melanophilin isoform 4 |
| NM_024101.7 | NP_077006.1 | melanophilin isoform 1 |
MLPH Protein Structure
FYVE_2: FYVE-type zinc finger (8 - 125)
Rab_eff_C: Rab effector MyRIP/melanophilin C-terminus (456 - 511)
- 0
- 100
- 200
- 300
- 400
- 500
- 600 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
melanophilin |
|
MLPH Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MLPH | Q9BV36 | RAB27A | Homo sapiens | P51159-1 | 12446441 | |
|
Intra
|
MLPH | Q9BV36 | BLOC1S6 | Homo sapiens | Q9UL45 | 32296183 | |
|
Intra
|
MLPH | Q9BV36 | RAB27A | Homo sapiens | P51159 | 12897212 | |
|
Intra
|
MLPH | Q9BV36 | RAB27A | Homo sapiens | P51159 | 33961781 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Griscelli Syndrome, Type 3 |
|
|
| Griscelli Syndrome |
|
|
| Piebald Trait |
|
|
| Griscelli Syndrome, Type 2 |
|
|
| Griscelli Syndrome, Type 1 |
|
|
| Psoriasis 15 |
|
|
| Fetishism |
|
|
| Mucinoses |
|
|
| Familial Cold Autoinflammatory Syndrome 2 |
|
|
| Microvillus Inclusion Disease |
|
|
| Chediak-Higashi Syndrome |
|
|
| Dyschromatosis Universalis Hereditaria |
|
|
| Hermansky-Pudlak Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | MLPH | MGD | MGI:2176380 |
| Bos taurus | MLPH | VGNC | VGNC:31506 |
| Rattus norvegicus | MLPH | RGD | RGD:1310733 |
| Macaca mulatta | MLPH | VGNC | VGNC:99383 |
| Canis familiaris | MLPH | VGNC | VGNC:43265 |
| Felis catus | MLPH | VGNC | VGNC:63526 |
| Others | MLPH | NCBI |