Paraplegin

SPG7
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2QZ4
Identifiers
Aliases	SPG7, CAR, CMAR, PGN, SPG5C, paraplegin matrix AAA peptidase subunit, SPG7 matrix AAA peptidase subunit, paraplegin
External IDs	OMIM: 602783; MGI: 2385906; HomoloGene: 31133; GeneCards: SPG7; OMA:SPG7 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	89,557,766 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	123,824,499 bp
RNA expression pattern
	Top expressed in
	gonad; ; sural nerve; ; left lobe of thyroid gland; ; apex of heart; ; right lobe of thyroid gland; ; gastric mucosa; ; right hemisphere of cerebellum; ; anterior pituitary; ; left ovary; ; right ovary;
	Top expressed in
	neural layer of retina; ; spermatocyte; ; muscle of thigh; ; interventricular septum; ; spermatid; ; right kidney; ; superior frontal gyrus; ; lip; ; primary visual cortex; ; skeletal muscle tissue;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	unfolded protein binding; nucleotide binding; peptidase activity; zinc ion binding; metalloendopeptidase activity; protein binding; hydrolase activity; ATP binding; metallopeptidase activity; metal ion binding;
Cellular component	integral component of membrane; mitochondrion; membrane; mitochondrial inner membrane; mitochondrial permeability transition pore complex; m-AAA complex; axon cytoplasm;
Biological process	proteolysis; nervous system development; mitochondrial calcium ion transmembrane transport; regulation of mitochondrial membrane permeability; mitochondrial outer membrane permeabilization involved in programmed cell death; mitochondrion organization; anterograde axonal transport;
	Sources:Amigo / QuickGO
Orthologs
	6687
	234847
	ENSG00000197912
	ENSMUSG00000000738
	Q9UQ90
	Q3ULF4
	NM_003119; NM_199367; NM_001363850
	NM_153176; NM_001364435
	NP_003110; NP_955399; NP_001350779
	NP_694816; NP_001351364
	Wikidata
View/Edit Human	View/Edit Mouse

Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000197912 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000000738 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, et al. (Jun 1998). "Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease". Cell. 93 (6): 973–83. doi:10.1016/S0092-8674(00)81203-9. PMID 9635427.
^ De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, et al. (Jul 1998). "A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3". American Journal of Human Genetics. 63 (1): 135–9. doi:10.1086/301930. PMC 1377251. PMID 9634528.
^ "Entrez Gene: SPG7 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000197912 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000000738 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9635427-5] Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, et al. (Jun 1998). "Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease". Cell. 93 (6): 973–83. doi:10.1016/S0092-8674(00)81203-9. PMID 9635427.

[pmid9634528-6] De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, et al. (Jul 1998). "A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3". American Journal of Human Genetics. 63 (1): 135–9. doi:10.1086/301930. PMC 1377251. PMID 9634528.

[entrez-7] "Entrez Gene: SPG7 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive)".

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