Entity Details

Primary name DDHD2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO94830
EntryNameDDHD2_HUMAN
FullNamePhospholipase DDHD2
TaxID9606
Evidenceevidence at protein level
Length711
SequenceStatuscomplete
DateCreated2007-11-13
DateModified2021-06-02

Ontological Relatives

GenesDDHD2

GO terms

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GOName
GO:0004620 phospholipase activity
GO:0004806 triglyceride lipase activity
GO:0005737 cytoplasm
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0006654 phosphatidic acid biosynthetic process
GO:0007626 locomotory behavior
GO:0008542 visual learning
GO:0016020 membrane
GO:0019433 triglyceride catabolic process
GO:0030134 COPII-coated ER to Golgi transport vesicle
GO:0034389 lipid droplet organization
GO:0034451 centriolar satellite
GO:0046872 metal ion binding
GO:0090141 positive regulation of mitochondrial fission

Subcellular Location

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Subcellular Location
Cytoplasm
Endoplasmic reticulum-Golgi intermediate compartment
Golgi apparatus

Domains

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DomainNameCategoryType
IPR001660 Sterile alpha motif domainDomainDomain
IPR004170 WWE domainDomainDomain
IPR004177 DDHD domainDomainDomain
IPR013761 Sterile alpha motif/pointed domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615033 OMIMSpastic paraplegia 54, autosomal recessive (SPG54)A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG54 patients have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
DDHD2_HUMANMTR1A_HUMANBioGRID, IntAct26514267 details
DDHD2_HUMANA4_HUMANBioGRID21832049 details
DDHD2_HUMANCOPB_HUMANMINT20932832 details