MLPH - melanophilin Gene

Also Known as SLAC2-A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79083

About MLPH

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:237,486,410-237,555,322 (from NCBI)

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_2: FYVE-type zinc finger (8 - 125)

Rab_eff_C

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

  • exophilin-3

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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Griscelli Syndrome, Type 3
  • Griscelli Syndrome Type 3

  • GS3

  • Griscelli-Prunieras Syndrome Type 3

  • Hypomelanosis With No Immunologic Or Neurologic Manifestations

  • Griscelli Syndrome 3

Griscelli Syndrome
  • Chediak-Higashi-Like Syndrome

  • Griscelli-Prunieras Syndrome

  • Partial Albinism-Immunodeficiency Syndrome

  • Griscelli Disease

  • Gs

  • Hypopigmentation Immunodeficiency Disease

  • Partial Albinism With Immunodeficiency

  • Immunodeficiency Syndrome With Hypopigmentation

  • Hypopigmentation-Immunodeficiency Disease

Piebald Trait
  • Piebaldism

  • PBT

  • Partial Albinism

  • Albinoidism, Oculocutaneous, Autosomal Dominant

Griscelli Syndrome, Type 2
  • Griscelli Syndrome Type 2

  • GS2

  • Griscelli Syndrome With Hemophagocytic Syndrome

  • Partial Albinism And Immunodeficiency Syndrome

  • Paid Syndrome

  • Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome

  • Griscelli-Prunieras Syndrome Type 2

  • Griscelli-Pruniéras Syndrome Type 2

  • Griscelli Syndrome 2

Griscelli Syndrome, Type 1
  • Griscelli Syndrome Type 1

  • GS1

  • Griscelli Syndrome With Neurologic Impairment

  • Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome

  • Griscelli Syndrome, Cutaneous And Neurologic Type

  • Griscelli-Prunieras Syndrome Type 1

  • Hypopigmentation-Neurologic Impairment Syndrome

  • Griscelli Syndrome With Neurological Impairment

  • Griscelli Syndrome, Cutaneous And Neurological Type

  • Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts

  • Griscelli Syndrome 1

  • Griscelli Syndrome With Primary Neurologic Impairment

Psoriasis 15
  • Psors15

Fetishism
  • Fetishism, Psychiatric

Mucinoses
Familial Cold Autoinflammatory Syndrome 2
  • FCAS2

  • Nlrp12-Associated Hereditary Periodic Fever Syndrome

  • Familial Cold Autoinflammatory Syndrome Type 2

  • Familial Cold-Induced Autoinflammatory Syndrome Type 2

  • Naps12

  • Familial Cold Autoinflammatory Syndrome 2, Susceptibility To

  • Autoinflammatory Syndrome, Cold, Familial, Type 2

Microvillus Inclusion Disease
  • Congenital Microvillous Atrophy

  • Intractable Diarrhea Of Infancy

  • Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

  • Davidson Disease

  • Microvillous Inclusion Disease

  • Congenital Microvillus Atrophy

  • Mvid

  • Diarrhea 2 With Microvillus Atrophy

  • Mvd

  • Congenital Familial Protracted Diarrhea

  • Davidson'S Disease

  • Familial Enteropathy, Microvillus

  • Microvillus Atrophy, Congenital

  • Congenital Enteropathy

  • Familial Protracted Enteropathy

  • Microvillous Atrophy

  • Microvillus Atrophy With Diarrhea 2

  • Idi

Chediak-Higashi Syndrome
  • CHS

  • Chédiak-Higashi Syndrome

  • Chediak - Steinbrinck Anomaly

  • Chediak Higashi Syndrome

  • Chediak-Steinbrinck-Higashi Syndrome

  • Oculocutaneous Albinism With Leukocyte Defect

  • Chediak-Higashi Disease

  • Chediak-Higashi-Steinbrink Syndrome

Dyschromatosis Universalis Hereditaria
  • Duh

Hermansky-Pudlak Syndrome
  • Hps

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • Hermanski-Pudlak Syndrome

  • Hermansky Pudlak Syndrome

  • Platelet Storage Pool Deficiency

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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