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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

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