Spg7 SPG7 matrix AAA peptidase subunit, paraplegin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Spg7provided by RGD
Official Full Name: SPG7 matrix AAA peptidase subunit, parapleginprovided by RGD
Primary source: RGD:727940
See related: EnsemblRapid:ENSRNOG00000015150 AllianceGenome:RGD:727940
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable metalloendopeptidase activity. Involved in mitochondrial outer membrane permeabilization involved in programmed cell death. Predicted to be located in mitochondrial inner membrane. Predicted to be part of m-AAA complex. 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: Biased expression in Kidney (RPKM 134.0), Heart (RPKM 105.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 19q12

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	19	NC_086037.1 (68025619..68059754)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	19	NC_051354.1 (51117088..51151228)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	19	NC_005118.4 (55880549..55914729)

Chromosome 19 - NC_086037.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Markers

BE103433 (e-PCR)
- UniSTS:244813

AU015315 (e-PCR)
- UniSTS:208337

Gene Ontology Provided by RGD

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	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within anterograde axonal transport	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
involved_in mitochondrial outer membrane permeabilization involved in programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial outer membrane permeabilization involved in programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium import into the mitochondrion	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium import into the mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitochondrial membrane permeability	IMP Inferred from Mutant Phenotype more info	PubMed

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	IEA Inferred from Electronic Annotation more info
part_of m-AAA complex	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of mitochondrial permeability transition pore complex	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: SPG7, paraplegin matrix AAA peptidase subunit; spastic paraplegia 7 homolog

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_001399110.1 → NP_001386039.1 mitochondrial inner membrane m-AAA protease component paraplegin isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000019

UniProtKB/Swiss-Prot

A0A0G2K536, Q7TT47

Related

ENSRNOP00000073276.3, ENSRNOT00000091712.3

Conserved Domains (2) summary

TIGR01241
Location:265 → 748

FtsH_fam; ATP-dependent metalloprotease FtsH

pfam06480
Location:145 → 242

FtsH_ext; FtsH Extracellular
NM_181388.3 → NP_852053.1 mitochondrial inner membrane m-AAA protease component paraplegin isoform 1

See identical proteins and their annotated locations for NP_852053.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000019

UniProtKB/TrEMBL

A0A2H2GPM9, A0A8L2R710, A6IZU9

Related

ENSRNOP00000048848.2, ENSRNOT00000047754.5

Conserved Domains (5) summary

TIGR01241
Location:265 → 711

FtsH_fam; ATP-dependent metalloprotease FtsH

pfam00004
Location:346 → 479

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

pfam01434
Location:524 → 709

Peptidase_M41; Peptidase family M41

pfam06480
Location:145 → 242

FtsH_ext; FtsH Extracellular

cl21455
Location:308 → 364

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086037.1 Reference GRCr8

Range

68025619..68059754

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039097806.2 → XP_038953734.1 paraplegin isoform X1

UniProtKB/TrEMBL

A0A8L2R710

Conserved Domains (2) summary

TIGR01241
Location:264 → 747

FtsH_fam; ATP-dependent metalloprotease FtsH

pfam06480
Location:144 → 241

FtsH_ext; FtsH Extracellular
XM_063278101.1 → XP_063134171.1 paraplegin isoform X2