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    Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 [ Mus musculus (house mouse) ]

    Gene ID: 66098, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Chchd6provided by MGI
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 6provided by MGI
    Primary source
    MGI:MGI:1913348
    See related
    Ensembl:ENSMUSG00000030086 AllianceGenome:MGI:1913348
    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
    Micos25; 0710001P09Rik; 1700021B03Rik
    Summary
    Predicted to be involved in DNA damage response and cristae formation. Predicted to be located in cytosol and mitochondrial inner membrane. Predicted to be part of MICOS complex. Predicted to be active in mitochondrion. Orthologous to human CHCHD6 (coiled-coil-helix-coiled-coil-helix domain containing 6). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 117.1), CNS E18 (RPKM 34.0) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Chchd6 in Genome Data Viewer
    Location:
    6 D1; 6 39.91 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (89360128..89572634, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (89383146..89595652, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930512J16 gene Neighboring gene STARR-seq mESC enhancer starr_16595 Neighboring gene STARR-seq mESC enhancer starr_16597 Neighboring gene predicted gene, 36735 Neighboring gene STARR-positive B cell enhancer ABC_E10391 Neighboring gene STARR-seq mESC enhancer starr_16599 Neighboring gene STARR-seq mESC enhancer starr_16600 Neighboring gene plexin A1 Neighboring gene predicted gene, 52910 Neighboring gene predicted gene, 46966 Neighboring gene STARR-seq mESC enhancer starr_16603 Neighboring gene predicted gene, 19896 Neighboring gene 40S ribosomal protein S17 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. A CHCHD6-APP axis connects amyloid and mitochondrial pathology in Alzheimer's disease. Shang Y, et al. Acta Neuropathol, 2022 Nov. PMID 36104602, Free PMC Article
    2. Deletion in the N-terminal half of olfactomedin 1 modifies its interaction with synaptic proteins and causes brain dystrophy and abnormal behavior in mice. Nakaya N, et al. Exp Neurol, 2013 Dec. PMID 24095980, Free PMC Article
    3. Synaptic GAP and GEF Complexes Cluster Proteins Essential for GTP Signaling. Wilkinson B, et al. Sci Rep, 2017 Jul 13. PMID 28706196, Free PMC Article
    4. RNA binding proteins co-localize with small tau inclusions in tauopathy. Maziuk BF, et al. Acta Neuropathol Commun, 2018 Aug 1. PMID 30068389, Free PMC Article
    5. Mitochondrial protein interactome elucidated by chemical cross-linking mass spectrometry. Schweppe DK, et al. Proc Natl Acad Sci U S A, 2017 Feb 14. PMID 28130547, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A CHCHD6-APP axis connects amyloid and mitochondrial pathology in Alzheimer's disease.
      Title: A CHCHD6-APP axis connects amyloid and mitochondrial pathology in Alzheimer's disease.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    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

    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cristae formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cristae formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cristae formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of MICOS complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of MICOS complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    MICOS complex subunit Mic25
    Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 6, 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_001167736.1 → NP_001161208.1  MICOS complex subunit Mic25 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon 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)
      AK015314, BQ177996, BY278681
      Consensus CDS
      CCDS51846.1
      UniProtKB/TrEMBL
      E9Q4M4, Q9DA45
      Related
      ENSMUSP00000109179.4, ENSMUST00000113550.6
      Conserved Domains (2) summary
      pfam05300
      Location:17 → 199
      DUF737; Protein of unknown function (DUF737)
      pfam06747
      Location:207 → 240
      CHCH; CHCH domain

    2. NM_025351.3 → NP_079627.3  MICOS complex subunit Mic25 isoform 1

      See identical proteins and their annotated locations for NP_079627.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK015314, BY278681
      Consensus CDS
      CCDS39557.1
      UniProtKB/Swiss-Prot
      Q3UNQ1, Q91VN4, Q9D5I5, Q9DAM8
      UniProtKB/TrEMBL
      Q9DA45
      Related
      ENSMUSP00000032172.9, ENSMUST00000032172.14
      Conserved Domains (2) summary
      pfam05300
      Location:17 → 227
      DUF737; Protein of unknown function (DUF737)
      pfam06747
      Location:235 → 268
      CHCH; CHCH domain

    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
      89360128..89572634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91VN4.2 GenPept UniProtKB/Swiss-Prot:Q91VN4

    Gene LinkOut

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

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