MLPH (Gene)

Organism:

Homo sapiens

Synonyms:ENTREZ:79083, HGNC:29643, MIM:606526, MLPH, NM_001042467, NM_001281473, NM_001281474, NM_024101, NP_001035932, NP_001268402, NP_001268403, NP_077006, NR_104019, SLAC2-A, XM_006712737, XM_006712739, XM_006712740, XM_011511812, XM_017004893, XM_017004894, XP_006712800, XP_006712802, XP_006712803, XP_011510114, XP_016860382, XP_016860383, melanophilin

Omim:OMIM:606526

Id:ENSG00000115648

Hgnc:HGNC:29643

Entrez:79083

Ensembl:ENSG00000115648

Description:melanophilin

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]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View MLPH's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with MLPH.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using MLPH.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for MLPH.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with MLPH.

Results found

Linked to

	Label	Description
	GSE214505 AKR1B1 knockdown A-549 3 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE233647 docetaxel UFERSA-PC3 DU145 4 v 0 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE57871 GLI1 PSMD13 knockdown HCT 116 Vorinostat 11 v 12 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE57871 vorinostat HCT 116 11 v 12 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE119978 GSE180930 cisplatin 3 v 4 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE118816 Myo1c knockdown podocyte 0 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE235701 GSE261434 enasidenib 2 v 3 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE184892 trehalose fibroblast 4 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE179112 GSE179113 hydroxyl Hutt45 4 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS

GSE214505 AKR1B1 knockdown A-549 3 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE233647 docetaxel UFERSA-PC3 DU145 4 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE57871 GLI1 PSMD13 knockdown HCT 116 Vorinostat 11 v 12 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE57871 vorinostat HCT 116 11 v 12 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE119978 GSE180930 cisplatin 3 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE118816 Myo1c knockdown podocyte 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE235701 GSE261434 enasidenib 2 v 3 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE184892 trehalose fibroblast 4 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE179112 GSE179113 hydroxyl Hutt45 4 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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