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    Immt inner membrane protein, mitochondrial [ Mus musculus (house mouse) ]

    Gene ID: 76614, updated on 17-Mar-2024

    Summary

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    Official Symbol
    Immtprovided by MGI
    Official Full Name
    inner membrane protein, mitochondrialprovided by MGI
    Primary source
    MGI:MGI:1923864
    See related
    Ensembl:ENSMUSG00000052337 AllianceGenome:MGI:1923864
    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
    HMP; P87; P89; P87/89; Micos60; 1700082C19Rik; D830041H16Rik
    Summary
    Acts upstream of or within mitochondrial calcium ion homeostasis. Located in mitochondrial intermembrane space. Is expressed in several structures, including alimentary system; cranial ganglion; lung; medulla oblongata basal plate mantle layer; and seminiferous cord. Orthologous to human IMMT (inner membrane mitochondrial protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 50.7), placenta adult (RPKM 32.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 C1; 6 32.21 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (71806200..71852250)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (71831091..71875266)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene receptor accessory protein 1 Neighboring gene STARR-seq mESC enhancer starr_16267 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:71707276-71707477 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:71707656-71707839 Neighboring gene STARR-seq mESC enhancer starr_16268 Neighboring gene mitochondrial ribosomal protein L35 Neighboring gene ribosomal protein L7A pseudogene Neighboring gene small nucleolar RNA, C/D box 94 Neighboring gene pentatricopeptide repeat domain 3 Neighboring gene STARR-positive B cell enhancer ABC_E9096 Neighboring gene polymerase (RNA) I polypeptide A Neighboring gene eukaryotic translation initiation factor 3, subunit H pseudogene

    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. Mic60 is essential to maintain mitochondrial integrity and to prevent encephalomyopathy. Dong T, et al. Brain Pathol, 2023 Jul. PMID 36974636, Free PMC Article
    2. Resveratrol counteracts bone loss via mitofilin-mediated osteogenic improvement of mesenchymal stem cells in senescence-accelerated mice. Lv YJ, et al. Theranostics, 2018. PMID 29721087, Free PMC Article
    3. Mitochondrial metabolism transition cooperates with nuclear reprogramming during induced pluripotent stem cell generation. Liu W, et al. Biochem Biophys Res Commun, 2013 Feb 22. PMID 23333381
    4. Mic60/Mitofilin determines MICOS assembly essential for mitochondrial dynamics and mtDNA nucleoid organization. Li H, et al. Cell Death Differ, 2016 Mar. PMID 26250910, Free PMC Article
    5. Overexpression of mitofilin in the mouse heart promotes cardiac hypertrophy in response to hypertrophic stimuli. Zhang Y, et al. Antioxid Redox Signal, 2014 Oct 20. PMID 24555791

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic ablation of Immt induces a lethal disruption of the MICOS complex.
      Title: Genetic ablation of Immt induces a lethal disruption of the MICOS complex.
    2. Mic60 is essential to maintain mitochondrial integrity and to prevent encephalomyopathy.
      Title: Mic60 is essential to maintain mitochondrial integrity and to prevent encephalomyopathy.
    3. Unravel Mitofilin as a novel mechanism mediating RESV promotion on mitochondrial function in stem cell senescence.
      Title: Resveratrol counteracts bone loss via mitofilin-mediated osteogenic improvement of mesenchymal stem cells in senescence-accelerated mice.
    4. Mitofilin homeostasis regulated by Yme1L is central to the MICOS assembly.
      Title: Mic60/Mitofilin determines MICOS assembly essential for mitochondrial dynamics and mtDNA nucleoid organization.
    5. Data show that Uchl3 and mitofilin are differentially expressed in the hippocampi of inbred senescence-acclerated mice compared to normally-aging mice.
      Title: The hippocampal proteomic analysis of senescence-accelerated mouse: implications of Uchl3 and mitofilin in cognitive disorder and mitochondria dysfunction in SAMP8.
    6. mitofilin is a critical organizer of the mitochondrial cristae morphology and thus indispensable for normal mitochondrial function
      Title: The mitochondrial inner membrane protein mitofilin controls cristae morphology.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Endonuclease-mediated (4) 

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cristae formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cristae formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within mitochondrial calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MICOS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MICOS complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in myelin sheath HDA PubMed 

    General protein information

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    Preferred Names
    MICOS complex subunit Mic60
    Names
    mitochondrial inner membrane protein
    mitofilin

    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_001253681.1 → NP_001240610.1  MICOS complex subunit Mic60 isoform 2

      See identical proteins and their annotated locations for NP_001240610.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 5' coding region compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK049189, BU754623, CJ058627
      Consensus CDS
      CCDS57425.1
      UniProtKB/TrEMBL
      Q3TVZ5
      Related
      ENSMUSP00000098859.4, ENSMUST00000101301.10
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 734
      Mitofilin; Mitochondrial inner membrane protein

    2. NM_001253686.1 → NP_001240615.1  MICOS complex subunit Mic60 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction in the 5' coding region and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK152588, AK159909, BU754623, CJ058627
      UniProtKB/TrEMBL
      Q3TVZ5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 729
      Mitofilin; Mitochondrial inner membrane protein

    3. NM_001253687.1 → NP_001240616.1  MICOS complex subunit Mic60 isoform 4

      See identical proteins and their annotated locations for NP_001240616.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction in the 5' coding region and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK033126, BU754623, CJ058627
      Consensus CDS
      CCDS57426.1
      UniProtKB/TrEMBL
      Q3TVZ5
      Related
      ENSMUSP00000109788.4, ENSMUST00000114151.10
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 697
      Mitofilin; Mitochondrial inner membrane protein

    4. NM_001253688.1 → NP_001240617.1  MICOS complex subunit Mic60 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK038129, AK169365, BU754623, CJ058627
      Consensus CDS
      CCDS57428.1
      UniProtKB/TrEMBL
      E9Q800, Q3TEY5
      Related
      ENSMUSP00000128967.2, ENSMUST00000166938.8
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 667
      Mitofilin; Mitochondrial inner membrane protein

    5. NM_001253689.1 → NP_001240618.1  MICOS complex subunit Mic60 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two alternate in-frame exons and uses an alternate splice junction in the 3' coding region compared to variant 1, that causes a frameshift. The resulting isoform (6) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK146640, BU754623, CJ058627
      Consensus CDS
      CCDS57427.1
      UniProtKB/TrEMBL
      E9QAY6
      Related
      ENSMUSP00000128367.2, ENSMUST00000166975.8
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 466
      Mitofilin; Mitochondrial inner membrane protein

    6. NM_001362134.1 → NP_001349063.1  MICOS complex subunit Mic60 isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (7) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC122200
      UniProtKB/TrEMBL
      Q3TVZ5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 708
      Mitofilin; Mitochondrial inner membrane protein

    7. NM_001362136.1 → NP_001349065.1  MICOS complex subunit Mic60 isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) usess an alternate in-frame splice junction in the 5' coding region compared to variant 1. The resulting isoform (8) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC122200
      UniProtKB/TrEMBL
      Q3TVZ5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 733
      Mitofilin; Mitochondrial inner membrane protein

    8. NM_001362137.1 → NP_001349066.1  MICOS complex subunit Mic60 isoform 9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (9) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC122200
      UniProtKB/TrEMBL
      Q3TEY5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 713
      Mitofilin; Mitochondrial inner membrane protein

    9. NM_001362138.1 → NP_001349067.1  MICOS complex subunit Mic60 isoform 10

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) uses an alternate in-frame splice junction in the 5' coding region and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (10) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC122200
      UniProtKB/TrEMBL
      Q3TEY5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 702
      Mitofilin; Mitochondrial inner membrane protein

    10. NM_029673.3 → NP_083949.2  MICOS complex subunit Mic60 isoform 1

      See identical proteins and their annotated locations for NP_083949.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK038129, BU754623, CJ058627
      Consensus CDS
      CCDS39509.1
      UniProtKB/Swiss-Prot
      Q66JS4, Q7TNE2, Q8C7V1, Q8CAQ8, Q8CCI0, Q8CDA8, Q9D9F6
      UniProtKB/TrEMBL
      Q3TVZ5
      Related
      ENSMUSP00000066181.7, ENSMUST00000064062.13
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 745
      Mitofilin; Mitochondrial inner membrane protein

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      71806200..71852250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321823.3 → XP_017177312.1  MICOS complex subunit Mic60 isoform X1

      UniProtKB/TrEMBL
      Q3TVZ5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 740
      Mitofilin; Mitochondrial inner membrane protein

    2. XM_030255663.2 → XP_030111523.1  MICOS complex subunit Mic60 isoform X2

      UniProtKB/TrEMBL
      Q3TVZ5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 728
      Mitofilin; Mitochondrial inner membrane protein

    3. XM_017321828.3 → XP_017177317.1  MICOS complex subunit Mic60 isoform X3

      UniProtKB/TrEMBL
      Q3TEY5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 701
      Mitofilin; Mitochondrial inner membrane protein

    4. XM_030255664.2 → XP_030111524.1  MICOS complex subunit Mic60 isoform X4

      UniProtKB/TrEMBL
      Q3TVZ5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 696
      Mitofilin; Mitochondrial inner membrane protein

    5. XM_030255665.2 → XP_030111525.1  MICOS complex subunit Mic60 isoform X5

      UniProtKB/TrEMBL
      Q3TEY5
      Conserved Domains (1) summary
      pfam09731
      Location:43 → 662
      Mitofilin; Mitochondrial inner membrane protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CAQ8.1 GenPept UniProtKB/Swiss-Prot:Q8CAQ8

    Gene LinkOut

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

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