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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

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