Details for: SPG7
Gene ID: 6687
Gene Type: Protein-coding - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.
Symbol: SPG7
Ensembl ID: ENSG00000197912
Description: SPG7 matrix AAA peptidase subunit, paraplegin
Selected Context(s): Overall
Cell Significance Landscape
Associated with
Significant Cells
Cell Significance Index (CSI) scores for the chosen context(s)
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CSI 17.57rCSI 42.71%PRS 20.3
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CSI 15.21rCSI 23.72%PRS 60.49
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CSI 13.01rCSI 46.8%PRS 19.87
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CSI 12.85rCSI 11.85%PRS 34.12
-
CSI 11.25rCSI 14.51%PRS 21.58
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CSI 10.73rCSI 14.6%PRS 45.52
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CSI 9.5rCSI 13.43%PRS 42.93
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CSI 9.38rCSI 29.3%PRS 21.85
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CSI 9.29rCSI 6.94%PRS 50.79
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CSI 7.8rCSI 45.96%PRS 21.97
-
CSI 7.72rCSI 29.18%PRS 21.67
-
CSI 7.62rCSI 10.38%PRS 61.81
-
CSI 6.98rCSI 18.8%PRS 41.51
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CSI 6.87rCSI 10.51%PRS 49.17
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CSI 6.25rCSI 32.81%PRS 49.06
-
CSI 5.93rCSI 13.13%PRS 30.61
-
CSI 5.79rCSI 7.05%PRS 39.78
-
CSI 5.68rCSI 7.77%PRS 31.56
-
CSI 5.34rCSI 7.3%PRS 35.72
-
CSI 5.07rCSI 8.69%PRS 42
-
CSI 4.6rCSI 7.57%PRS 37.9
-
CSI 4.54rCSI 5.42%PRS 20.76
-
CSI 4.23rCSI 6.13%PRS 47.81
-
CSI 4.19rCSI 15.19%PRS 51.08
-
CSI 4.13rCSI 6.31%PRS 37.19
-
CSI 4.07rCSI 5.66%PRS 33.16
-
CSI 3.97rCSI 6.32%PRS 27.9
-
CSI 3.95rCSI 4.92%PRS 19.67
-
CSI 3.87rCSI 2.93%PRS 43.94
-
CSI 3.83rCSI 6.12%PRS 28.22
-
CSI 3.75rCSI 4.53%PRS 39.35
-
CSI 3.57rCSI 3.37%PRS 34.13
-
CSI 3.34rCSI 7.6%PRS 32.57
-
CSI 3.32rCSI 2.46%PRS 28.37
-
CSI 3.29rCSI 2.64%PRS 53.49
-
CSI 3.27rCSI 4.08%PRS 43.81
-
CSI 3.22rCSI 2.5%PRS 32.59
-
CSI 3.18rCSI 2.42%PRS 42.59
-
CSI 3.13rCSI 13.76%PRS 53.12
-
CSI 3.13rCSI 7.92%PRS 40.08
-
CSI 3.13rCSI 2.33%PRS 45.32
-
CSI 3.12rCSI 3.25%PRS 33.61
-
CSI 3.09rCSI 8.16%PRS 38.99
-
CSI 3.09rCSI 6.82%PRS 24.07
-
CSI 3.08rCSI 2.14%PRS 39.72
-
CSI 2.99rCSI 2.08%PRS 34.64
-
CSI 2.98rCSI 5.42%PRS 48.06
-
CSI 2.93rCSI 2.38%PRS 33.93
-
CSI 2.91rCSI 3.41%PRS 45.9
-
CSI 2.9rCSI 2.64%PRS 47.4
-
CSI 2.88rCSI 2.01%PRS 44.49
-
CSI 2.84rCSI 2.45%PRS 43.29
-
CSI 2.76rCSI 4.72%PRS 59.05
-
CSI 2.74rCSI 2.31%PRS 48.9
-
CSI 2.74rCSI 3.66%PRS 40.42
-
CSI 2.73rCSI 65.41%PRS 20.23
-
CSI 2.72rCSI 2.62%PRS 33.82
-
CSI 2.71rCSI 2.61%PRS 57.38
-
CSI 2.6rCSI 9.23%PRS 47.22
-
CSI 2.6rCSI 5.34%PRS 30.54
-
CSI 2.58rCSI 36.66%PRS 27.6
-
CSI 2.54rCSI 3.75%PRS 48.71
-
CSI 2.54rCSI 8.5%PRS 24.66
-
CSI 2.52rCSI 2.24%PRS 32.6
-
CSI 2.5rCSI 60.44%PRS 21.04
-
CSI 2.5rCSI 2.33%PRS 32.87
-
CSI 2.49rCSI 5.85%PRS 43.31
-
CSI 2.43rCSI 3.57%PRS 30.64
-
CSI 2.42rCSI 6%PRS 31.25
-
CSI 2.39rCSI 2.69%PRS 48.37
-
CSI 2.34rCSI 3.94%PRS 20.89
-
CSI 2.33rCSI 5.37%PRS 27.27
-
CSI 2.3rCSI 2.86%PRS 35.34
-
CSI 2.29rCSI 2.66%PRS 43.67
-
CSI 2.29rCSI 2.35%PRS 51.69
-
CSI 2.24rCSI 45.64%PRS 28.01
-
CSI 2.24rCSI 5.11%PRS 28.41
-
CSI 2.23rCSI 1.5%PRS 41.1
-
CSI 2.23rCSI 1.95%PRS 42.15
-
CSI 2.19rCSI 2.33%PRS 48.93
-
CSI 2.19rCSI 5%PRS 32.55
-
CSI 2.18rCSI 3.25%PRS 36.43
-
CSI 2.17rCSI 2.76%PRS 37.65
-
CSI 2.17rCSI 4.85%PRS 38.36
-
CSI 2.14rCSI 1.88%PRS 37.49
-
CSI 2.13rCSI 8.27%PRS 51.85
-
CSI 2.11rCSI 3.7%PRS 26.62
-
CSI 2.07rCSI 1.55%PRS 47.08
-
CSI 2.04rCSI 1.57%PRS 31.44
-
CSI 2.02rCSI 1.57%PRS 47.53
-
CSI 2.02rCSI 1.95%PRS 25.36
-
CSI 2.02rCSI 1.19%PRS 45.55
-
CSI 2rCSI 1.97%PRS 47.3
-
CSI 2rCSI 1.33%PRS 37.35
-
CSI 1.99rCSI 4%PRS 25.02
-
CSI 1.97rCSI 2.52%PRS 37.48
-
CSI 1.96rCSI 9.39%PRS 30.88
-
CSI 1.94rCSI 3.36%PRS 25.68
-
CSI 1.94rCSI 3.66%PRS 57.71
-
CSI 1.92rCSI 9.83%PRS 35.41
-
CSI 0.1rCSI 0.8%PRS 50.5%
-
CSI 0.2rCSI 4.9%PRS 58.5%
-
CSI 0.2rCSI 3.2%PRS 63.0%
-
CSI 0.2rCSI 3.8%PRS 55.6%
-
CSI 0.2rCSI 1.0%PRS 45.2%
-
CSI 0.2rCSI 1.0%PRS 49.7%
-
CSI 0.3rCSI 1.9%PRS 53.6%
-
CSI 0.3rCSI 2.3%PRS 53.5%
-
CSI 0.3rCSI 2.4%PRS 62.3%
-
CSI 0.4rCSI 1.8%PRS 58.2%
-
CSI 0.4rCSI 1.8%PRS 50.6%
-
CSI 0.4rCSI 2.2%PRS 42.3%
-
CSI 0.5rCSI 1.0%PRS 53.9%
-
CSI 0.5rCSI 1.6%PRS 44.5%
-
CSI 0.5rCSI 3.0%PRS 27.2%
-
CSI 0.5rCSI 2.8%PRS 58.6%
-
CSI 0.5rCSI 0.4%PRS 33.3%
-
CSI 0.5rCSI 3.2%PRS 59.8%
-
CSI 0.6rCSI 3.0%PRS 56.5%
-
CSI 0.6rCSI 2.7%PRS 31.7%
-
CSI 0.6rCSI 1.7%PRS 28.0%
-
CSI 0.6rCSI 2.1%PRS 67.5%
-
CSI 0.7rCSI 1.3%PRS 50.6%
-
CSI 0.7rCSI 1.0%PRS 38.8%
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CSI 0.7rCSI 2.6%PRS 53.5%
-
CSI 0.7rCSI 1.1%PRS 31.3%
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CSI 0.7rCSI 1.3%PRS 41.5%
-
CSI 0.7rCSI 1.3%PRS 69.1%
-
CSI 0.7rCSI 2.7%PRS 29.4%
-
CSI 0.7rCSI 2.4%PRS 27.9%
-
CSI 0.7rCSI 3.2%PRS 23.3%
-
CSI 0.7rCSI 2.0%PRS 49.0%
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CSI 0.7rCSI 3.6%PRS 43.1%
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CSI 0.7rCSI 1.8%PRS 49.1%
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CSI 0.8rCSI 1.9%PRS 30.3%
-
CSI 0.8rCSI 2.2%PRS 26.5%
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CSI 0.8rCSI 2.4%PRS 23.6%
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CSI 0.8rCSI 3.5%PRS 66.8%
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CSI 0.8rCSI 0.7%PRS 39.0%
-
CSI 0.8rCSI 1.1%PRS 40.9%
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CSI 0.8rCSI 2.2%PRS 47.7%
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CSI 0.8rCSI 2.0%PRS 25.8%
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CSI 0.8rCSI 1.0%PRS 25.0%
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CSI 0.8rCSI 1.8%PRS 47.8%
-
CSI 0.8rCSI 5.2%PRS 71.1%
-
CSI 0.9rCSI 1.4%PRS 25.9%
-
CSI 0.9rCSI 1.1%PRS 34.1%
-
CSI 0.9rCSI 0.9%PRS 38.2%
-
CSI 0.9rCSI 2.3%PRS 46.3%
-
CSI 0.9rCSI 3.5%PRS 56.0%
-
CSI 0.9rCSI 2.9%PRS 36.5%
-
CSI 0.9rCSI 1.4%PRS 41.4%
-
CSI 0.9rCSI 5.1%PRS 22.1%
-
CSI 0.9rCSI 6.6%PRS 23.2%
-
CSI 0.9rCSI 1.4%PRS 34.1%
-
CSI 1.0rCSI 2.3%PRS 24.7%
-
CSI 1.0rCSI 2.4%PRS 66.6%
-
CSI 1.0rCSI 3.1%PRS 30.1%
-
CSI 1.0rCSI 1.8%PRS 25.0%
-
CSI 1.0rCSI 1.7%PRS 54.2%
-
CSI 1.0rCSI 2.8%PRS 31.0%
-
CSI 1.0rCSI 1.8%PRS 20.2%
-
CSI 1.0rCSI 1.1%PRS 33.4%
-
CSI 1.0rCSI 1.4%PRS 28.4%
-
CSI 1.1rCSI 11.1%PRS 37.0%
-
CSI 1.1rCSI 2.4%PRS 46.9%
-
CSI 1.1rCSI 1.5%PRS 34.9%
-
CSI 1.1rCSI 2.9%PRS 39.1%
-
CSI 1.1rCSI 2.8%PRS 31.1%
-
CSI 1.1rCSI 2.2%PRS 63.1%
-
CSI 1.1rCSI 1.8%PRS 43.8%
-
CSI 1.2rCSI 2.5%PRS 25.9%
-
CSI 1.2rCSI 2.8%PRS 31.0%
-
CSI 1.2rCSI 3.0%PRS 32.1%
-
CSI 1.2rCSI 1.7%PRS 37.2%
-
CSI 1.2rCSI 6.8%PRS 37.2%
-
CSI 1.2rCSI 3.7%PRS 45.0%
-
CSI 1.2rCSI 1.8%PRS 34.7%
-
CSI 1.2rCSI 1.2%PRS 44.9%
-
CSI 1.2rCSI 2.9%PRS 45.2%
-
CSI 1.2rCSI 4.0%PRS 37.1%
-
CSI 1.2rCSI 5.4%PRS 28.7%
-
CSI 1.2rCSI 1.6%PRS 41.5%
-
CSI 1.2rCSI 2.4%PRS 34.3%
-
CSI 1.3rCSI 3.6%PRS 48.2%
-
CSI 1.3rCSI 1.9%PRS 33.3%
-
CSI 1.3rCSI 4.9%PRS 42.6%
-
CSI 1.3rCSI 1.9%PRS 30.6%
-
CSI 1.3rCSI 2.9%PRS 54.8%
-
CSI 1.3rCSI 2.3%PRS 48.8%
-
CSI 1.3rCSI 1.1%PRS 37.9%
-
CSI 1.3rCSI 1.4%PRS 30.9%
-
CSI 1.3rCSI 2.3%PRS 28.7%
-
CSI 1.3rCSI 1.4%PRS 36.6%
-
CSI 1.3rCSI 11.2%PRS 22.2%
-
CSI 1.3rCSI 1.8%PRS 55.2%
-
CSI 1.3rCSI 3.2%PRS 50.6%
-
CSI 1.3rCSI 2.3%PRS 32.1%
-
CSI 1.3rCSI 5.4%PRS 31.9%
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CSI 1.4rCSI 2.2%PRS 22.6%
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration
Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.
Legend:
- Query Gene
-
Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
- Node Size: Proportional to Target Cell CSI magnitude
- STRING PPI Edge
- Shared Pathway Edge (ONTOLOGY)
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 2314463746
Symbol: SPG7_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9635427
Title: Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
PubMed ID: 9635427
PubMed ID: 10480368
Title: Genomic structure and expression analysis of the spastic paraplegia gene, SPG7.
PubMed ID: 10480368
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 11549317
Title: Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein.
PubMed ID: 11549317
PubMed ID: 14623864
Title: Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
PubMed ID: 14623864
PubMed ID: 20579626
Title: Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
PubMed ID: 20579626
PubMed ID: 26387735
Title: SPG7 is an essential and conserved component of the mitochondrial permeability transition pore.
PubMed ID: 26387735
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 27499296
Title: Mitochondrial protein interaction mapping identifies regulators of respiratory chain function.
PubMed ID: 27499296
PubMed ID: 28396416
Title: Proteolytic control of the mitochondrial calcium uniporter complex.
PubMed ID: 28396416
PubMed ID: 31097542
Title: SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca2+ influx, and regulation of mitochondrial permeability transition pore opening.
PubMed ID: 31097542
PubMed ID: 19841671
Title: Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7.
PubMed ID: 19841671
PubMed ID: 16534102
Title: Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
PubMed ID: 16534102
PubMed ID: 17646629
Title: A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
PubMed ID: 17646629
PubMed ID: 20186691
Title: Functional evaluation of paraplegin mutations by a yeast complementation assay.
PubMed ID: 20186691
DOI: 10.1002/humu.21226
PubMed ID: 27217339
Title: Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
PubMed ID: 27217339
DOI: 10.1093/brain/aww111
Sequence Information:
- Length: 795
- Mass: 88235
- Checksum: 453D4BF8553A0632
- Sequence:
MAVLLLLLRA LRRGPGPGPR PLWGPGPAWS PGFPARPGRG RPYMASRPPG DLAEAGGRAL QSLQLRLLTP TFEGINGLLL KQHLVQNPVR LWQLLGGTFY FNTSRLKQKN KEKDKSKGKA PEEDEEERRR RERDDQMYRE RLRTLLVIAV VMSLLNALST SGGSISWNDF VHEMLAKGEV QRVQVVPESD VVEVYLHPGA VVFGRPRLAL MYRMQVANID KFEEKLRAAE DELNIEAKDR IPVSYKRTGF FGNALYSVGM TAVGLAILWY VFRLAGMTGR EGGFSAFNQL KMARFTIVDG KMGKGVSFKD VAGMHEAKLE VREFVDYLKS PERFLQLGAK VPKGALLLGP PGCGKTLLAK AVATEAQVPF LAMAGPEFVE VIGGLGAARV RSLFKEARAR APCIVYIDEI DAVGKKRSTT MSGFSNTEEE QTLNQLLVEM DGMGTTDHVI VLASTNRADI LDGALMRPGR LDRHVFIDLP TLQERREIFE QHLKSLKLTQ SSTFYSQRLA ELTPGFSGAD IANICNEAAL HAAREGHTSV HTLNFEYAVE RVLAGTAKKS KILSKEEQKV VAFHESGHAL VGWMLEHTEA VMKVSITPRT NAALGFAQML PRDQHLFTKE QLFERMCMAL GGRASEALSF NEVTSGAQDD LRKVTRIAYS MVKQFGMAPG IGPISFPEAQ EGLMGIGRRP FSQGLQQMMD HEARLLVAKA YRHTEKVLQD NLDKLQALAN ALLEKEVINY EDIEALIGPP PHGPKKMIAP QRWIDAQREK QDLGEEETEE TQQPPLGGEE PTWPK
Genular Protein ID: 2295940774
Symbol: A0A2R8Y632_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11237011
Title: Initial sequencing and analysis of the human genome.
PubMed ID: 11237011
DOI: 10.1038/35057062
PubMed ID: 15496913
Title: Finishing the euchromatic sequence of the human genome.
PubMed ID: 15496913
DOI: 10.1038/nature03001
PubMed ID: 15616553
Title: The sequence and analysis of duplication-rich human chromosome 16.
PubMed ID: 15616553
DOI: 10.1038/nature03187
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
Sequence Information:
- Length: 463
- Mass: 51419
- Checksum: DA34B0CCD2B8F933
- Sequence:
MAVLLLLLRA LRRGPGPGPR PLWGPGPAWS PGFPARPGRG RPYMASRPPG DLAEAGGRAL QSLQLRLLTP TFEGINGLLL KQHLVQNPVR LWQLLGGTFY FNTSRLKQKN KEKDKSKGKA PEEDEEERRR RERDDQMYRE RLRTLLVIAV VMSLLNALST SGGSISWNDF VHEMLAKGEV QRVQVVPESD VVEVYLHPGA VVFGRPRLAL MYRMQVANID KFEEKLRAAE DELNIEAKDR IPVSYKRTGF FGNALYSVGM TAVGLAILWY VFRLAGMTGR EGGFSAFNQL KMARFTIVDG KMGKGVSFKD VAGMHEAKLE VREFVDYLKS PERFLQLGAK VPKGALLLGP PGCGKTLLAK AVATEAQVPF LAMAGPEFVE VIGGLGAARV RSLFKEARAR APCIVYIDEI DAVGKKRSTT MSGFSNTEEE QTLNQLLVEM DVFYAEIEEL KLVYPYHGVL HSD