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MLPH melanophilin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001042467 Homo sapiens melanophilin (MLPH), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001281473 Homo sapiens melanophilin (MLPH), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001281474 Homo sapiens melanophilin (MLPH), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_024101 Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006712737 PREDICTED: Homo sapiens melanophilin (MLPH), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006712738 PREDICTED: Homo sapiens melanophilin (MLPH), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006712739 PREDICTED: Homo sapiens melanophilin (MLPH), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006712740 PREDICTED: Homo sapiens melanophilin (MLPH), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006712741 PREDICTED: Homo sapiens melanophilin (MLPH), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006712742 PREDICTED: Homo sapiens melanophilin (MLPH), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

Gene Symbol MLPH
Entrez Gene ID 79083
Full Name melanophilin
Synonyms SLAC2-A
General protein information
Preferred Names
melanophilin
Names
melanophilin
exophilin-3
synaptotagmin-like protein 2a
slp homolog lacking C2 domains a
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q37.3

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].
Disorder

MIM: 606526

Griscelli syndrome, type 3, 609227 (3)

mRNA Protein Product Sequence Price Select
NM_001042467, 527317392 NP_001035932, 109826351 melanophilin isoform 2 ORF Sequence $700.00
NM_001281473, 527317393 NP_001268402, 527317394 melanophilin isoform 3 ORF Sequence $550.00
NM_001281474, 527317395 NP_001268403, 527317396 melanophilin isoform 4 ORF Sequence $550.00
NM_024101, 527317391 NP_077006, 13129108 melanophilin isoform 1 ORF Sequence $700.00
XM_006712737, 578804868 XP_006712800, 578804869 melanophilin isoform X1 ORF Sequence $550.00
XM_006712738, 578804870 XP_006712801, 578804871 melanophilin isoform X2 ORF Sequence $550.00
XM_006712739, 578804872 XP_006712802, 578804873 melanophilin isoform X3 ORF Sequence $550.00
XM_006712740, 578804874 XP_006712803, 578804875 melanophilin isoform X4 ORF Sequence $550.00
XM_006712741, 578804876 XP_006712804, 578804877 melanophilin isoform X5 ORF Sequence $550.00
XM_006712742, 578804878 XP_006712805, 578804879 melanophilin isoform X6 ORF Sequence $550.00
WikiPathways
WP2291Deregulation of Rab and Rab Effector Genes in Bladder Cancer
Homo sapiens (human)MLPHNP_077006.1
Pan troglodytes (chimpanzee)MLPHXP_516180.3
Canis lupus familiaris (dog)MLPHNP_001096689.2
Bos taurus (cattle)MLPHNP_001075066.1
Mus musculus (house mouse)MlphNP_443748.2
Rattus norvegicus (Norway rat)MlphNP_001012135.1
Danio rerio (zebrafish)LOC557015XP_005167685.1
Process
IDNameEvidence
GO:0006605protein targetingIEA
GO:0030318melanocyte differentiationIEA
GO:0032400melanosome localizationIEA
Component
IDNameEvidence
GO:0001725stress fiberIEA
GO:0005815microtubule organizing centerIEA
GO:0030864cortical actin cytoskeletonIEA
GO:0035371microtubule plus-endIEA
Function
IDNameEvidence
GO:0003779actin bindingIEA
GO:0017137Rab GTPase bindingIEA
GO:0031489myosin V bindingIEA
GO:0046872metal ion bindingIEA
GO:0051010microtubule plus-end bindingIEA
GeneCards MLPH
UniProt B3KSS2, Q9BV36, G5E9G5
Vega OTTHUMG00000133298
MIM 606526
Ensembl ENSG00000115648
HGNC 29643
HPRD 09409

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the MLPH gene?

The MLPH gene provides instructions for making a protein called melanophilin. This protein is found in pigment-producing cells called melanocytes, where it helps transport structures called melanosomes. These structures produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color (pigmentation). Melanophilin interacts with proteins produced from the MYO5A and RAB27A genes to form a complex that transports melanosomes to the outer edges of melanocytes. From there, the melanosomes are transferred to other types of cells, where they provide the pigment needed for normal hair, skin, and eye coloring.

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