U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 114896, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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 ATP hydrolysis activity; membrane protein dislocase activity; and 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, Nov 2024]
Expression
Ubiquitous expression in placenta adult (RPKM 13.4), kidney adult (RPKM 12.5) and 28 other tissues See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Afg3l1 in Genome Data Viewer
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_000074.7Genomic Context describing neighboring genes Neighboring gene differentially expressed in FDCP 8 Neighboring gene predicted gene, 39275 Neighboring gene dysbindin domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E6700 Neighboring gene growth arrest specific 8

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration. Murru S, et al. Glia, 2019 Aug. PMID 30989755, Free PMC Article
  2. The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying. Wang S, et al. PLoS Genet, 2016 Dec. PMID 27911893, Free PMC Article
  3. Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Koppen M, et al. Mol Cell Biol, 2007 Jan. PMID 17101804, Free PMC Article
  4. DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling. Richter-Dennerlein R, et al. Cell Metab, 2014 Jul 1. PMID 24856930
  5. Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. Kremmidiotis G, et al. Genomics, 2001 Aug. PMID 11549317

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

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

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables ATP-dependent peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables membrane protein dislocase activity ISS
Inferred from Sequence or Structural Similarity
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 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
involved_in cellular response to glutathione ISS
Inferred from Sequence or Structural Similarity
more info
  
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 catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein processing IDA
Inferred from Direct Assay
more info
 PubMed 
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 mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
mitochondrial inner membrane m-AAA protease component AFG3L1; AFG3-like protein 1
Names
AFG3(ATPase family gene 3)-like 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. NM_054070.3 → NP_473411.2  mitochondrial inner membrane m-AAA protease component AFG3L1

    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

  1. 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

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    124204601..124230655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q920A7.2 GenPept UniProtKB/Swiss-Prot:Q920A7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases
Research Materials
Tools