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    Chchd3 coiled-coil-helix-coiled-coil-helix domain containing 3 [ Mus musculus (house mouse) ]

    Gene ID: 66075, updated on 3-Nov-2024

    Summary

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    Official Symbol
    Chchd3provided by MGI
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 3provided by MGI
    Primary source
    MGI:MGI:1913325
    See related
    Ensembl:ENSMUSG00000053768 AllianceGenome:MGI:1913325
    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
    Micos19; 0610041L09Rik; 1700039J09Rik
    Summary
    Enables molecular adaptor activity. Predicted to be involved in cristae formation and mitochondrial fusion. Located in mitochondrial inner membrane. Is expressed in central nervous system; liver lobe; orbito-sphenoid; retina; and thymus primordium. Orthologous to human CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 56.0), duodenum adult (RPKM 32.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Chchd3 in Genome Data Viewer
    Location:
    6 A3.3; 6 13.97 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (32769142..33037206, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (32792207..33060273, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46956 Neighboring gene predicted gene, 32007 Neighboring gene STARR-seq mESC enhancer starr_15507 Neighboring gene STARR-seq mESC enhancer starr_15508 Neighboring gene STARR-seq mESC enhancer starr_15509 Neighboring gene STARR-seq mESC enhancer starr_15510 Neighboring gene STARR-seq mESC enhancer starr_15513 Neighboring gene STARR-seq mESC enhancer starr_15514 Neighboring gene STARR-seq mESC enhancer starr_15515 Neighboring gene STARR-seq mESC enhancer starr_15516 Neighboring gene predicted gene, 53279 Neighboring gene STARR-positive B cell enhancer ABC_E2190 Neighboring gene STARR-seq mESC enhancer starr_15517 Neighboring gene predicted gene, 22321 Neighboring gene STARR-seq mESC enhancer starr_15518 Neighboring gene STARR-seq mESC enhancer starr_15519 Neighboring gene zinc finger protein 212 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 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. Liver mitochondrial cristae organizing protein MIC19 promotes energy expenditure and pedestrian locomotion by altering nucleotide metabolism. Sohn JH, et al. Cell Metab, 2023 Aug 8. PMID 37473754, Free PMC Article
    2. Identification of ChChd3 as a novel substrate of the cAMP-dependent protein kinase (PKA) using an analog-sensitive catalytic subunit. Schauble S, et al. J Biol Chem, 2007 May 18. PMID 17242405
    3. Mic19 depletion impairs endoplasmic reticulum-mitochondrial contacts and mitochondrial lipid metabolism and triggers liver disease. Dong J, et al. Nat Commun, 2024 Jan 2. PMID 38168065, Free PMC Article
    4. Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space. Darshi M, et al. J Biol Chem, 2012 Nov 16. PMID 23019327, Free PMC Article
    5. In-silico QTL mapping of postpubertal mammary ductal development in the mouse uncovers potential human breast cancer risk loci. Hadsell DL, et al. Mamm Genome, 2015 Feb. PMID 25552398, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mic19 depletion impairs endoplasmic reticulum-mitochondrial contacts and mitochondrial lipid metabolism and triggers liver disease.
      Title: Mic19 depletion impairs endoplasmic reticulum-mitochondrial contacts and mitochondrial lipid metabolism and triggers liver disease.
    2. Liver mitochondrial cristae organizing protein MIC19 promotes energy expenditure and pedestrian locomotion by altering nucleotide metabolism.
      Title: Liver mitochondrial cristae organizing protein MIC19 promotes energy expenditure and pedestrian locomotion by altering nucleotide metabolism.
    3. ChChd3 is a scaffolding protein that stabilizes protein complexes involved in maintaining crista architecture and protein import and is thus essential for maintaining mitochondrial structure and function.
      Title: ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 molecular adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cristae formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cristae formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in inner mitochondrial membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inner mitochondrial membrane organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial fusion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial fusion ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of MICOS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MICOS complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of MICOS complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrial inner membrane 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 nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    MICOS complex subunit Mic19
    Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial

    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_001355667.1 → NP_001342596.1  MICOS complex subunit Mic19

      Status: VALIDATED

      Source sequence(s)
      AC152943, AC156288
      UniProtKB/TrEMBL
      D3Z0L4
      Related
      ENSMUSP00000123220.2, ENSMUST00000127666.8
      Conserved Domains (1) summary
      pfam05300
      Location:15 → 180
      DUF737; Protein of unknown function (DUF737)

    2. NM_025336.2 → NP_079612.1  MICOS complex subunit Mic19

      See identical proteins and their annotated locations for NP_079612.1

      Status: VALIDATED

      Source sequence(s)
      AC152943, AC156288
      Consensus CDS
      CCDS19986.1
      UniProtKB/Swiss-Prot
      Q9CRB9
      UniProtKB/TrEMBL
      Q91VG6
      Related
      ENSMUSP00000070149.5, ENSMUST00000066379.11
      Conserved Domains (1) summary
      pfam05300
      Location:15 → 175
      DUF737; Protein of unknown function (DUF737)

    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
      32769142..33037206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152261.1 → XP_036008154.1  MICOS complex subunit Mic19 isoform X2

      Related
      ENSMUSP00000110743.2, ENSMUST00000115091.2
      Conserved Domains (1) summary
      pfam05300
      Location:20 → 151
      DUF737; Protein of unknown function (DUF737)

    2. XM_006506468.5 → XP_006506531.1  MICOS complex subunit Mic19 isoform X1

      Conserved Domains (1) summary
      pfam05300
      Location:15 → 156
      DUF737; Protein of unknown function (DUF737)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CRB9.1 GenPept UniProtKB/Swiss-Prot:Q9CRB9

    Gene LinkOut

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

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