Property Summary

NCBI Gene PubMed Count 48
PubMed Score 594.11
PubTator Score 139.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytic glioma 1.200 1.6e-02
ependymoma 1.600 2.0e-03
oligodendroglioma 1.800 5.8e-04
osteosarcoma -2.531 1.0e-08
atypical teratoid / rhabdoid tumor -1.600 1.6e-03
glioblastoma -1.800 3.8e-04
group 4 medulloblastoma -1.400 3.3e-02
medulloblastoma, large-cell -2.200 2.4e-05
intraductal papillary-mucinous adenoma (... 1.600 1.7e-03
intraductal papillary-mucinous carcinoma... 1.400 4.7e-03
pediatric high grade glioma -1.500 1.6e-03
Pick disease -1.300 9.2e-06
ovarian cancer 2.300 5.4e-08

Gene RIF (26)

PMID Text
26506339 this case shows that the spectrum of pathologies in SPG7 can include neuron loss of the dentate nucleus and the inferior olivary nucleus as well as neuritic pathology.
26387735 Data indicates that SPG7 is essential for the mitochondrial permeability transition pore (PTP) complex formation, interacts with CypD and VDAC and determines C terminus of SPG7 and CsA-binding region of CypD as necessary for PTP formation.
26260707 a novel homozygous frameshift deletion in the SPG7 gene was identifies as the genetic cause of hereditary spastic paraplegia in a Greek family.
25681447 In unexplained ataxia, there was a significant number of patients with SPG7 mutations.
24767997 The SPG7 Q866 variant is efficiently processed independent of phosphorylation of AFG3L2 at Y179, which inhibits processing of SPG7.
24727571 Using an unbiased exome sequencing approach we identified pathogenic compound heterozygous SPG7 mutations in patients with PEO and multiple mitochondrial DNA deletions in skeletal muscle
23857099 A Japanese patient is reported with an SPG7 mutation for a slowly progressive form of autosomal recessive cerebellar ataxia and spastic paraplegia.
23269439 This study showed that the p.Ala510Val mutation is prevalent amongst severe hereditary spastic paraparesis patients of UK.
23065789 SPG7 mutations are a frequent cause of middle-aged onset of spastic gait when strict inclusion criteria are applied and should, therefore, be tested in autosomal recessive or sporadic hereditary spastic paraplegia.
22964162 SPG7 mutations correlate with spastic paraplegia phenotypes.
22571692 Data suggest a pathogenic role for this SPG7 p.A510V variant.
22563492 Studies indicate that both mouse and human SPG7 ESTs containing alternative first exons.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20108356 The novel mutation is the first splice site mutation found in the SPG7 gene. It removes part of the AAA domain of paraplegin protein, probably leading to a loss-of-function of the paraplegin-AFG3L2 complex in the mitochondrial inner membrane.
19841671 structural analysis of the ATPase domain of the human AAA+ protein paraplegin/SPG7
19748354 An intersubunit signaling network coordinates ATP hydrolysis by m-AAA protease paraplegin.
18854154 Knockdown of spastic paraplegia 7 (SPG7) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
18799786 Results suggest that paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
18799786 Observational study of gene-disease association. (HuGE Navigator)
18563470 This study identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP.
18200586 identification of six novel point mutations and one large intragenic deletion in hereditary spastic paraplegia
17646629 The new SPG7 gene mutation leads to a novel complicated autosomal recessive hereditary spastic paraparesis phenotype that widens the spectrum of different brain systems that are optionally affected in hereditary spastic paraplegia.
17420921 Observational study of gene-disease association. (HuGE Navigator)
16534102 Cerebellar signs or cerebellar atrophy on brain imaging were the most frequent additional features in patients with SPG7 hereditary spastic paraplegia.
16357941 Adenoassociated virus-mediated intramuscular delivery of paraplegin halted the progression of neuropathological changes and rescued mitochondrial morphology in the peripheral nerves of paraplegin-deficient mice.
14506940 mutation in spastin and paraplegin genes does not appear to cause motor neuron disease

AA Sequence

MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRALQSLQLRLLTP      1 - 70
TFEGINGLLLKQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKAPEEDEEERRRRERDDQMYRE     71 - 140
RLRTLLVIAVVMSLLNALSTSGGSISWNDFVHEMLAKGEVQRVQVVPESDVVEVYLHPGAVVFGRPRLAL    141 - 210
MYRMQVANIDKFEEKLRAAEDELNIEAKDRIPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGR    211 - 280
EGGFSAFNQLKMARFTIVDGKMGKGVSFKDVAGMHEAKLEVREFVDYLKSPERFLQLGAKVPKGALLLGP    281 - 350
PGCGKTLLAKAVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARARAPCIVYIDEIDAVGKKRSTT    351 - 420
MSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLPTLQERREIFE    421 - 490
QHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKS    491 - 560
KILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAALGFAQMLPRDQHLFTKEQLFERMCMAL    561 - 630
GGRASEALSFNEVTSGAQDDLRKVTRIAYSMVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMD    631 - 700
HEARLLVAKAYRHTEKVLQDNLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWIDAQREK    701 - 770
QDLGEEETEETQQPPLGGEEPTWPK                                                 771 - 795
//

Text Mined References (47)

PMID Year Title
27499296 2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
26506339 2015 Abnormal Paraplegin Expression in Swollen Neurites, ?- and ?-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
26387735 2015 SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.
26260707 2015 Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25681447 2015 SPG7 mutations are a common cause of undiagnosed ataxia.
25416956 2014 A proteome-scale map of the human interactome network.
24767997 2014 SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes.
24727571 2014 Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
23857099 2013 Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
23269439 2013 The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
23065789 2012 Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
22964162 2012 Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
22571692 2013 SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
22563492 2012 Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.
22554690 2012 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
22266886 2011 Genetics of hereditary spastic paraplegias.
21516116 2011 Next-generation sequencing to generate interactome datasets.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20579626 2010 Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
20186691 2010 Functional evaluation of paraplegin mutations by a yeast complementation assay.
20108356 2010 A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.
19841671 2009 Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7.
19748354 2009 An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases.
19289403 2009 Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.
18799786 2008 Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
18563470 2008 Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
18200586 2008 A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
17646629 2007 A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
17420921 2007 The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome.
16534102 2006 Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
16357941 2006 Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14623864 2003 Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
14506940 2003 Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10480368 Genomic structure and expression analysis of the spastic paraplegia gene, SPG7.
9635427 1998 Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
9634528 1998 A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
9405655 1997 Genomic and cDNA sequence analysis of the cell matrix adhesion regulator gene.
8429914 1993 Cloning and characterization of a gene that regulates cell adhesion.
8098008 1993 The cell adhesion regulator (CAR) gene, TaqI and insertion/deletion polymorphisms, and regional assignment to the peritelomeric region of 16q by linkage analysis.
7993411 1994 Detection of a 4-bp insertion (CACA) functional polymorphism at nucleotide 241 of the cellular adhesion regulatory molecule CMAR (formerly CAR).
1560826 1992 Cloning and characterization of a gene that regulates cell adhesion.