Spg7 SPG7, paraplegin matrix AAA peptidase subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spg7provided by MGI
Official Full Name: SPG7, paraplegin matrix AAA peptidase subunitprovided by MGI
Primary source: MGI:MGI:2385906
See related: Ensembl:ENSMUSG00000000738 AllianceGenome:MGI:2385906
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PGN; Cmar
Summary: Predicted to enable metalloendopeptidase activity. Acts upstream of or within anterograde axonal transport and mitochondrion organization. Located in mitochondrial inner membrane. Part of m-AAA complex. Is expressed in central nervous system; liver; olfactory epithelium; and retina nuclear layer. Used to study hereditary spastic paraplegia 7. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 7. Orthologous to human SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 106.3), duodenum adult (RPKM 72.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 72.04 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (123792247..123824499)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (123065508..123097760)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency.
Title: SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency.
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia.
Title: Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia.
Studies indicate that both mouse and human SPG7 ESTs containing alternative first exons.
Title: Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.
These results provide evidence for different substrate specificities of m-AAA proteases and reveal a striking evolutionary switch of proteases involved in the proteolytic processing of dynamin-like GTPases in mitochondria.
Title: OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria.
Data show that Afg3l1 or Afg3l2 are required for maturation of newly imported paraplegin subunits after their cleavage by MPP.
Title: Autocatalytic processing of m-AAA protease subunits in mitochondria.
Spg7 and Afg3l2 double mutants show an early-onset ataxic phenotype, indicating a role of the m-AAA proteases in cerebellar degeneration.
Title: Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236039

AI452278 (e-PCR)
- UniSTS:159832

D11Bhm94 (e-PCR), detects polymorphism
- UniSTS:141702

AU015315 (e-PCR)
- UniSTS:208337

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent peptidase activity	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	ISO Inferred from Sequence Orthology more info
enables metalloendopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial outer membrane permeabilization involved in programmed cell death	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial outer membrane permeabilization involved in programmed cell death	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium import into the mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in regulation of calcium import into the mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of mitochondrial membrane permeability	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitochondrial membrane permeability	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
part_of m-AAA complex	IBA Inferred from Biological aspect of Ancestor more info
part_of m-AAA complex	IDA Inferred from Direct Assay more info	PubMed
part_of m-AAA complex	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial permeability transition pore complex	ISO Inferred from Sequence Orthology more info
part_of mitochondrial permeability transition pore complex	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial inner membrane m-AAA protease component paraplegin

Names: cell matrix adhesion regulator; paraplegin; spastic paraplegia 7 homolog; spastic paraplegia 7 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001364435.1 → NP_001351364.1 mitochondrial inner membrane m-AAA protease component paraplegin isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC121819

UniProtKB/TrEMBL

D3YXB7

Conserved Domains (2) summary

pfam06480
Location:145 → 242

FtsH_ext; FtsH Extracellular

cl27568
Location:265 → 646

TIP49; TIP49 C-terminus
NM_153176.5 → NP_694816.3 mitochondrial inner membrane m-AAA protease component paraplegin isoform 1 preproprotein

See identical proteins and their annotated locations for NP_694816.3

Status: VALIDATED

Source sequence(s)

AK145540, BP770238

Consensus CDS

CCDS40508.1

UniProtKB/Swiss-Prot

B2RQY8, D3Z1Z1, Q3ULF4, Q4V9T9, Q7TNG0, Q80X42, Q811Y5, Q8K414, Q8R1A1, Q8R1K2

UniProtKB/TrEMBL

D3YXB7

Related

ENSMUSP00000119552.3, ENSMUST00000149248.9

Conserved Domains (4) summary

TIGR01241
Location:265 → 748

FtsH_fam; ATP-dependent metalloprotease FtsH

pfam00004
Location:346 → 479

AAA; ATPase family associated with various cellular activities (AAA)

pfam01434
Location:561 → 746

Peptidase_M41; Peptidase family M41

pfam06480
Location:145 → 242

FtsH_ext; FtsH Extracellular