Afg3l1 AFG3-like AAA ATPase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Afg3l1provided by MGI
Official Full Name: AFG3-like AAA ATPase 1provided by MGI
Primary source: MGI:MGI:1928277
See related: Ensembl:ENSMUSG00000031967 AllianceGenome:MGI:1928277
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: 1700047G05Rik; 3110061K15Rik
Summary: Predicted to enable metalloendopeptidase activity. Involved in protein processing. Acts upstream of or within cristae formation; mitochondrial fusion; and mitochondrial protein processing. Located in mitochondrial inner membrane. Part of m-AAA complex. Orthologous to human AFG3L1P (AFG3 like matrix AAA peptidase subunit 1, pseudogene). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 13.4), kidney adult (RPKM 12.5) and 28 other tissues See more
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Genomic context

Location:: 8 E1; 8 72.1 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (124204601..124230655)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (123477862..123503916)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Astrocyte-specific deletion of Afg3l2 in the mouse leads to late-onset motor impairment and to degeneration of BG, which display aberrant morphology, altered expression of the glutamate transporter EAAT2, and a reactive inflammatory signature. The neurological and glial phenotypes are drastically exacerbated when astrocytes lack both Afg31l and Afg3l2, and therefore, are totally depleted of the m-AAA protease.
Title: Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration.
total ablation of the m-AAA protease, by deleting both Afg3l2 and its paralogue Afg3l1, triggers progressive motor dysfunction and demyelination, owing to rapid oligodendrocyte cell death.
Title: The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying.
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.
Afg3l1 encodes a protein that is targeted to the mitochondria and shows high homology to human paraplegin and other members of the ATP-dependent zinc metalloprotease family.
Title: Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein.

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Variation

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Alleles

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

Gene trapped (1)
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:236038

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

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 hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	ISA Inferred from Sequence Alignment more info	PubMed
enables metallopeptidase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation 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 cristae formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mitochondrial fusion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mitochondrial protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrial protein processing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within mitochondrial protein processing	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein processing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
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: AFG3-like protein 1

Names: AFG3(ATPase family gene 3)-like 1

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_054070.3 → NP_473411.2 AFG3-like protein 1

See identical proteins and their annotated locations for NP_473411.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AC158362, AK159647, BC056978

Consensus CDS

CCDS22760.1

UniProtKB/Swiss-Prot

Q3THK2, Q6PGJ7, Q920A7, Q9CZN2

Related

ENSMUSP00000001520.8, ENSMUST00000001520.13

Conserved Domains (4) summary

TIGR01241
Location:281 → 738

FtsH_fam; ATP-dependent metalloprotease FtsH

pfam00004
Location:337 → 468

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

pfam01434
Location:554 → 736

Peptidase_M41; Peptidase family M41

pfam06480
Location:142 → 233

FtsH_ext; FtsH Extracellular

RNA

NR_028260.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks one alternate, internal exon compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC158362, BC056978, BC060064

Related

ENSMUST00000098320.6

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

124204601..124230655

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011248276.3 → XP_011246578.1 AFG3-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_011246578.1

UniProtKB/Swiss-Prot

Q920A7

Conserved Domains (2) summary

TIGR01241
Location:155 → 612

FtsH_fam; ATP-dependent metalloprotease FtsH

pfam06480
Location:16 → 107

FtsH_ext; FtsH Extracellular