Entity Details

Primary name SPG7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UQ90
EntryNameSPG7_HUMAN
FullNameParaplegin
TaxID9606
Evidenceevidence at protein level
Length795
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesSPG7

GO terms

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GOName
GO:0004176 ATP-dependent peptidase activity
GO:0004222 metalloendopeptidase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005757 mitochondrial permeability transition pore complex
GO:0006508 proteolysis
GO:0006851 mitochondrial calcium ion transmembrane transport
GO:0007399 nervous system development
GO:0008053 mitochondrial fusion
GO:0008233 peptidase activity
GO:0008270 zinc ion binding
GO:0034982 mitochondrial protein processing
GO:0042407 cristae formation
GO:0046902 regulation of mitochondrial membrane permeability
GO:0051082 unfolded protein binding
GO:0065003 protein-containing complex assembly
GO:1902686 mitochondrial outer membrane permeabilization involved in programmed cell death

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR000642 Peptidase M41DomainDomain
IPR003593 AAA+ ATPase domainDomainDomain
IPR003959 ATPase, AAA-type, coreDomainDomain
IPR005936 Peptidase, FtsHFamilyFamily
IPR011546 Peptidase M41, FtsH extracellularDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR037219 Peptidase M41-likeFamilyHomologous superfamily
IPR041569 AAA ATPase, AAA+ lid domainDomainDomain

Diseases

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Disease IDSourceNameDescription
607259 OMIMSpastic paraplegia 7, autosomal recessive (SPG7)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. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions. The disease is caused by variants affecting the gene represented in this entry.

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
SPG7_HUMANTIF1B_HUMANBioGRID, HPRD, IntAct16169070 details
SPG7_HUMANRALY_HUMANBioGRID, HPRD, IntAct16169070 details
SPG7_HUMANPLS1_HUMANBioGRID, HPRD, IntAct16189514 details
SPG7_HUMANKR412_HUMANBioGRID, HPRD, IntAct16189514 details
SPG7_HUMANMDFI_HUMANBioGRID, HPRD, IntAct16189514 25416956 32296183 details
SPG7_HUMANMTUS2_HUMANBioGRID, IntAct, MINT21516116 25416956 details
SPG7_HUMANKRA59_HUMANBioGRID, MINT21516116 details
SPG7_HUMANPNMA1_HUMANBioGRID, IntAct, MINT21516116 25416956 32296183 details
SPG7_HUMANSTABP_HUMANBioGRID, IntAct21988832 details
SPG7_HUMANSPAS1_HUMANBioGRID, IntAct21988832 details
SPG7_HUMANMK06_HUMANBioGRID, MINT21900206 details
SPG7_HUMANPPIP1_HUMANBioGRID, IntAct25416956 details
SPG7_HUMANCCDB1_HUMANBioGRID, IntAct25416956 details
SPG7_HUMANKR107_HUMANBioGRID, IntAct25416956 details
SPG7_HUMANKR109_HUMANBioGRID, IntAct25416956 details
SPG7_HUMANPSME3_HUMANBioGRID, IntAct25416956 details
SPG7_HUMANHNRPK_HUMANBioGRID, IntAct25416956 32296183 details
SPG7_HUMANKHDR2_HUMANBioGRID, IntAct25416956 details
SPG7_HUMANK1C40_HUMANBioGRID, IntAct25416956 details
SPG7_HUMANNT2NA_HUMANBioGRID, IntAct25416956 32296183 details
SPG7_HUMANRBPMS_HUMANBioGRID, IntAct25416956 details
SPG7_HUMANLZTS2_HUMANBioGRID, IntAct25416956 details
SPG7_HUMANCRTP1_HUMANBioGRID, IntAct32296183 details
SPG7_HUMANHSF2B_HUMANBioGRID, IntAct32296183 details
SPG7_HUMANNT2NC_HUMANBioGRID, IntAct25416956 32296183 details
SPG7_HUMANBKRB2_HUMANBioGRID, MINT28298427 details
SPG7_HUMANLRIF1_HUMANBioGRID, HPRD16169070 details
SPG7_HUMANKR103_HUMANBioGRID25416956 details
SPG7_HUMANSASH1_HUMANBioGRID30480076 details
SPG7_HUMANRIF1_HUMANIntAct16169070 details
SPG7_HUMANELF3_HUMANIntAct17353931 details