Entity Details

Primary name SPTCS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96JI7
EntryNameSPTCS_HUMAN
FullNameSpatacsin
TaxID9606
Evidenceevidence at protein level
Length2443
SequenceStatuscomplete
DateCreated2007-05-15
DateModified2021-06-02

Ontological Relatives

GenesSPG11

GO terms

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GOName
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007268 chemical synaptic transmission
GO:0008088 axo-dendritic transport
GO:0030424 axon
GO:0030425 dendrite
GO:0031410 cytoplasmic vesicle
GO:0045202 synapse
GO:0048489 synaptic vesicle transport
GO:0048675 axon extension
GO:0090389 phagosome-lysosome fusion involved in apoptotic cell clearance
GO:0090659 walking behavior

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR028103 SpatacsinFamilyFamily
IPR028107 Spatacsin, C-terminal domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616668 OMIMCharcot-Marie-Tooth disease 2X (CMT2X)An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement. The disease is caused by variants affecting the gene represented in this entry.
602099 OMIMAmyotrophic lateral sclerosis 5, juvenile (ALS5)A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25. The disease is caused by variants affecting the gene represented in this entry.
604360 OMIMSpastic paraplegia 11, autosomal recessive (SPG11)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. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
SPTCS_HUMANSRTD3_HUMANBioGRID, IntAct25416956 details
SPTCS_HUMANDYN1_HUMANIntAct29949766 details
SPTCS_HUMANZ3H7A_HUMANBioGRID29395067 details