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    Mtfr1 mitochondrial fission regulator 1 [ Mus musculus (house mouse) ]

    Gene ID: 67472, updated on 2-Apr-2024

    Summary

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    Official Symbol
    Mtfr1provided by MGI
    Official Full Name
    mitochondrial fission regulator 1provided by MGI
    Primary source
    MGI:MGI:1914722
    See related
    Ensembl:ENSMUSG00000027601 AllianceGenome:MGI:1914722
    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
    Chppr; Fam54a2; 1300002C08Rik; 1700080D04Rik; 2810026O10Rik; 4930579E05Rik
    Summary
    Involved in aerobic respiration. Located in mitochondrion. Is expressed in brain; embryo; and testis. Orthologous to human MTFR1 (mitochondrial fission regulator 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 71.8), liver E14 (RPKM 19.6) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    3 A2; 3 5.36 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (19241481..19274981)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (19187315..19220817)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_07084 Neighboring gene predicted gene, 30341 Neighboring gene STARR-seq mESC enhancer starr_07085 Neighboring gene STARR-seq mESC enhancer starr_07087 Neighboring gene STARR-positive B cell enhancer ABC_E334 Neighboring gene STARR-positive B cell enhancer ABC_E3427 Neighboring gene armadillo repeat containing 1 Neighboring gene STARR-seq mESC enhancer starr_07090 Neighboring gene STARR-seq mESC enhancer starr_07091 Neighboring gene phosphodiesterase 7A Neighboring gene RIKEN cDNA 3110037C07 gene Neighboring gene STARR-positive B cell enhancer mm9_chr3:19250042-19250343 Neighboring gene predicted gene, 52602

    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. NFAT4-dependent miR-324-5p regulates mitochondrial morphology and cardiomyocyte cell death by targeting Mtfr1. Wang K, et al. Cell Death Dis, 2015 Dec 3. PMID 26633713, Free PMC Article
    2. Impaired expression of genes coding for reactive oxygen species scavenging enzymes in testes of Mtfr1/Chppr-deficient mice. Monticone M, et al. Reproduction, 2007 Sep. PMID 17709566
    3. Chondrocyte protein with a poly-proline region (CHPPR) is a novel mitochondrial protein and promotes mitochondrial fission. Tonachini L, et al. J Cell Physiol, 2004 Dec. PMID 15389597
    4. The nuclear genes Mtfr1 and Dufd1 regulate mitochondrial dynamic and cellular respiration. Monticone M, et al. J Cell Physiol, 2010 Nov. PMID 20568109
    5. A neurogenomics approach to gene expression analysis in the developing brain. Jensen P, et al. Brain Res Mol Brain Res, 2004 Dec 20. PMID 15582152

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study defines the NFAT4/ miR-324-5p/Mtfr1 axis, which participates in the regulation of mitochondrial fission and cardiomyocyte apoptosis.
      Title: NFAT4-dependent miR-324-5p regulates mitochondrial morphology and cardiomyocyte cell death by targeting Mtfr1.
    2. The nuclear genes Mtfr1 and Dufd1 regulate mitochondrial dynamic and cellular respiration and may affect male fertility.
      Title: The nuclear genes Mtfr1 and Dufd1 regulate mitochondrial dynamic and cellular respiration.
    3. CHPPR is able to promote mitochondrial fission with a sequence specific mechanism suggesting that this event may be relevant to late stage of chondrocyte differentiation [CHPPR]
      Title: Chondrocyte protein with a poly-proline region (CHPPR) is a novel mitochondrial protein and promotes mitochondrial fission.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1)  1 citation
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in aerobic respiration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aerobic respiration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol 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
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial fission regulator 1
    Names
    chondrocyte protein with a poly-proline region

    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_001253390.3 → NP_001240319.1  mitochondrial fission regulator 1

      See identical proteins and their annotated locations for NP_001240319.1

      Status: VALIDATED

      Source sequence(s)
      AC127283
      Consensus CDS
      CCDS17256.1
      UniProtKB/Swiss-Prot
      Q99MB2, Q9CQZ4
      UniProtKB/TrEMBL
      Q3TTQ5, Q8CGA8
      Related
      ENSMUSP00000112752.2, ENSMUST00000119865.8
      Conserved Domains (1) summary
      pfam05308
      Location:24 → 249
      Mito_fiss_reg; Mitochondrial fission regulator

    2. NM_001253391.3 → NP_001240320.1  mitochondrial fission regulator 1

      See identical proteins and their annotated locations for NP_001240320.1

      Status: VALIDATED

      Source sequence(s)
      AC127283
      Consensus CDS
      CCDS17256.1
      UniProtKB/Swiss-Prot
      Q99MB2, Q9CQZ4
      UniProtKB/TrEMBL
      Q3TTQ5, Q8CGA8
      Related
      ENSMUSP00000112824.2, ENSMUST00000117529.8
      Conserved Domains (1) summary
      pfam05308
      Location:24 → 249
      Mito_fiss_reg; Mitochondrial fission regulator

    3. NM_001356295.2 → NP_001343224.1  mitochondrial fission regulator 1

      Status: VALIDATED

      Source sequence(s)
      AC127283
      Consensus CDS
      CCDS17256.1
      UniProtKB/Swiss-Prot
      Q99MB2, Q9CQZ4
      UniProtKB/TrEMBL
      Q3TTQ5, Q8CGA8
      Conserved Domains (1) summary
      pfam05308
      Location:24 → 249
      Mito_fiss_reg; Mitochondrial fission regulator

    4. NM_001428962.1 → NP_001415891.1  mitochondrial fission regulator 1

      Status: VALIDATED

      Source sequence(s)
      AC127283

    5. NM_026182.7 → NP_080458.1  mitochondrial fission regulator 1

      See identical proteins and their annotated locations for NP_080458.1

      Status: VALIDATED

      Source sequence(s)
      AC127283
      Consensus CDS
      CCDS17256.1
      UniProtKB/Swiss-Prot
      Q99MB2, Q9CQZ4
      UniProtKB/TrEMBL
      Q3TTQ5, Q8CGA8
      Related
      ENSMUSP00000119724.2, ENSMUST00000130645.8
      Conserved Domains (1) summary
      pfam05308
      Location:24 → 249
      Mito_fiss_reg; Mitochondrial fission regulator

    RNA

    1. NR_045575.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC127283

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      19241481..19274981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011249708.4 → XP_011248010.1  mitochondrial fission regulator 1 isoform X1

      UniProtKB/Swiss-Prot
      Q99MB2, Q9CQZ4
      UniProtKB/TrEMBL
      Q3TTQ5, Q8CGA8
      Conserved Domains (1) summary
      pfam05308
      Location:24 → 249
      Mito_fiss_reg; Mitochondrial fission regulator

    2. XM_036163244.1 → XP_036019137.1  mitochondrial fission regulator 1 isoform X2

      Conserved Domains (1) summary
      pfam05308
      Location:24 → 249
      Mito_fiss_reg; Mitochondrial fission regulator
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99MB2.1 GenPept UniProtKB/Swiss-Prot:Q99MB2

    Gene LinkOut

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

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