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    Afg1l AFG1 like ATPase [ Mus musculus (house mouse) ]

    Gene ID: 215951, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Afg1lprovided by MGI
    Official Full Name
    AFG1 like ATPaseprovided by MGI
    Primary source
    MGI:MGI:2148801
    See related
    Ensembl:ENSMUSG00000038302 AllianceGenome:MGI:2148801
    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
    Lace1; CG8520
    Summary
    Predicted to enable ATP hydrolysis activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen and mitochondrial protein catabolic process. Located in mitochondrion. Is expressed in several structures, including adrenal gland; genitourinary system; gut; hemolymphoid system gland; and integumental system. Orthologous to human AFG1L (AFG1 like ATPase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 3.8), kidney adult (RPKM 2.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    10 B2; 10 22.88 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (42188577..42354561, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (42312581..42478565, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:41777238-41777421 Neighboring gene STARR-seq mESC enhancer starr_26475 Neighboring gene predicted gene, 51798 Neighboring gene predicted gene, 40630 Neighboring gene STARR-seq mESC enhancer starr_26478 Neighboring gene forkhead box O3 Neighboring gene STARR-seq mESC enhancer starr_26482 Neighboring gene STARR-seq mESC enhancer starr_26483 Neighboring gene STARR-seq mESC enhancer starr_26484 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:41989470-41989671 Neighboring gene STARR-positive B cell enhancer ABC_E5129 Neighboring gene predicted gene, 38485 Neighboring gene STARR-seq mESC enhancer starr_26488 Neighboring gene STARR-positive B cell enhancer ABC_E2322 Neighboring gene STARR-seq mESC enhancer starr_26490 Neighboring gene sorting nexin 3 Neighboring gene nuclear receptor subfamily 2, group E, member 1

    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
    • 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. Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice. Kumar RA, et al. Genesis, 2004 Feb. PMID 14994267
    2. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Chalhoub N, et al. Nat Med, 2003 Apr. PMID 12627228
    3. Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci. Abrahams BS, et al. Genomics, 2002 Jul. PMID 12079282
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC107616

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial electron transport, cytochrome c to oxygen ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrion organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    AFG1-like ATPase
    Names
    lactation elevated 1
    lactation elevated protein 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_001359297.1 → NP_001346226.1  AFG1-like ATPase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AF520417, AK044595, BY295329
      UniProtKB/TrEMBL
      F6VT60
      Related
      ENSMUSP00000120389.2, ENSMUST00000151747.8
      Conserved Domains (1) summary
      COG1485
      Location:1 → 328
      YhcM; Predicted ATPase [General function prediction only]

    2. NM_145743.2 → NP_665686.2  AFG1-like ATPase isoform 1

      See identical proteins and their annotated locations for NP_665686.2

      Status: VALIDATED

      Source sequence(s)
      AK044595, BC089595, BY295329
      Consensus CDS
      CCDS23811.1
      UniProtKB/Swiss-Prot
      Q3V384, Q5EBH5, Q8K1E9
      Related
      ENSMUSP00000036149.9, ENSMUST00000041024.15
      Conserved Domains (2) summary
      COG1485
      Location:73 → 471
      YhcM; Predicted ATPase [General function prediction only]
      cl21455
      Location:75 → 471
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      42188577..42354561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030245011.1 → XP_030100871.1  AFG1-like ATPase isoform X2

      UniProtKB/TrEMBL
      F6VT60
      Conserved Domains (1) summary
      COG1485
      Location:1 → 328
      YhcM; Predicted ATPase [General function prediction only]

    2. XM_006512698.1 → XP_006512761.1  AFG1-like ATPase isoform X2

      See identical proteins and their annotated locations for XP_006512761.1

      UniProtKB/TrEMBL
      F6VT60
      Conserved Domains (1) summary
      COG1485
      Location:1 → 328
      YhcM; Predicted ATPase [General function prediction only]

    3. XM_017313883.3 → XP_017169372.1  AFG1-like ATPase isoform X1

      Conserved Domains (1) summary
      COG1485
      Location:72 → 470
      YhcM; Predicted ATPase [General function prediction only]

    4. XM_006512700.4 → XP_006512763.1  AFG1-like ATPase isoform X3

      Conserved Domains (1) summary
      cl38936
      Location:1 → 248
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3V384.1 GenPept UniProtKB/Swiss-Prot:Q3V384

    Gene LinkOut

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

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