Entity Details

Primary name MELPH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BV36
EntryNameMELPH_HUMAN
FullNameMelanophilin
TaxID9606
Evidenceevidence at protein level
Length600
SequenceStatuscomplete
DateCreated2003-06-16
DateModified2021-06-02

Ontological Relatives

GenesMLPH

GO terms

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GOName
GO:0003779 actin binding
GO:0006886 intracellular protein transport
GO:0017022 myosin binding
GO:0030425 dendrite
GO:0030674 protein-macromolecule adaptor activity
GO:0030864 cortical actin cytoskeleton
GO:0031267 small GTPase binding
GO:0032402 melanosome transport
GO:0046872 metal ion binding
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR006788 Rab effector MyRIP/MelanophilinDomainDomain
IPR010911 Rab-binding domainDomainDomain
IPR011011 Zinc finger, FYVE/PHD-typeFamilyHomologous superfamily
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR037442 Melanophilin, FYVE-related domainDomainDomain
IPR041282 FYVE-type zinc fingerDomainDomain

Diseases

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Disease IDSourceNameDescription
609227 OMIMGriscelli syndrome 3 (GS3)Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. The disease is caused by variants affecting the gene represented in this entry.