Entity Details

Primary name SACS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NZJ4
EntryNameSACS_HUMAN
FullNameSacsin
TaxID9606
Evidenceevidence at protein level
Length4579
SequenceStatuscomplete
DateCreated2001-02-21
DateModified2021-06-02

Ontological Relatives

GenesSACS

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0006457 protein folding
GO:0030424 axon
GO:0030425 dendrite
GO:0030544 Hsp70 protein binding
GO:0051087 chaperone binding
GO:0070628 proteasome binding
GO:0070852 cell body fiber
GO:0090084 negative regulation of inclusion body assembly

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000626 Ubiquitin-like domainDomainDomain
IPR001623 DnaJ domainDomainDomain
IPR007842 HEPN domainDomainDomain
IPR029071 Ubiquitin-like domain superfamilyFamilyHomologous superfamily
IPR036869 Chaperone J-domain superfamilyFamilyHomologous superfamily
IPR036890 Histidine kinase/HSP90-like ATPase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
270550 OMIMSpastic ataxia Charlevoix-Saguenay type (SACS)A neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse. The disease is caused by variants affecting the gene represented in this entry.