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

    Gene ID: 114896, updated on 28-Oct-2024

    Summary

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    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, Oct 2024]
    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

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    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

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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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)

    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.

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