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    Chchd7 coiled-coil-helix-coiled-coil-helix domain containing 7 [ Mus musculus (house mouse) ]

    Gene ID: 66433, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Chchd7provided by MGI
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 7provided by MGI
    Primary source
    MGI:MGI:1913683
    See related
    Ensembl:ENSMUSG00000042198 AllianceGenome:MGI:1913683
    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
    1810049H20Rik
    Summary
    Located in mitochondrion. Orthologous to human CHCHD7 (coiled-coil-helix-coiled-coil-helix domain containing 7). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in duodenum adult (RPKM 11.3), adrenal adult (RPKM 7.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 A1; 4 2.2 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (3938847..3951382)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (3938840..3951383)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_09429 Neighboring gene Moloney sarcoma oncogene Neighboring gene pleiomorphic adenoma gene 1 Neighboring gene STARR-positive B cell enhancer ABC_E830 Neighboring gene ubiquitin protein ligase E3 component n-recognin 5 pseudogene Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1, retrotransposed

    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 mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    2. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    3. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in mitochondrial respiratory chain complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 7

    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_001190322.2 → NP_001177251.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7

      See identical proteins and their annotated locations for NP_001177251.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 5 all encode the same protein.
      Source sequence(s)
      AI851035, AK003308, AK168647
      Consensus CDS
      CCDS38686.1
      UniProtKB/Swiss-Prot
      Q3TGP4, Q8K2Q5
      UniProtKB/TrEMBL
      B1AXC8
      Related
      ENSMUSP00000112967.2, ENSMUST00000121651.8
      Conserved Domains (1) summary
      cl02794
      Location:14 → 64
      Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

    2. NM_001190323.2 → NP_001177252.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7

      See identical proteins and their annotated locations for NP_001177252.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 5 all encode the same protein.
      Source sequence(s)
      AI851035, AK003308
      Consensus CDS
      CCDS38686.1
      UniProtKB/Swiss-Prot
      Q3TGP4, Q8K2Q5
      UniProtKB/TrEMBL
      B1AXC8
      Related
      ENSMUSP00000104023.2, ENSMUST00000108386.8
      Conserved Domains (1) summary
      cl02794
      Location:14 → 64
      Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

    3. NM_001190324.2 → NP_001177253.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7

      See identical proteins and their annotated locations for NP_001177253.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 5 all encode the same protein.
      Source sequence(s)
      AK003308, BX527959
      Consensus CDS
      CCDS38686.1
      UniProtKB/Swiss-Prot
      Q3TGP4, Q8K2Q5
      UniProtKB/TrEMBL
      B1AXC8
      Related
      ENSMUSP00000118311.2, ENSMUST00000149544.8
      Conserved Domains (1) summary
      cl02794
      Location:14 → 64
      Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

    4. NM_001285804.1 → NP_001272733.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7

      See identical proteins and their annotated locations for NP_001272733.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 through 5 all encode the same protein.
      Source sequence(s)
      AI851035, AK003308, CB057699
      Consensus CDS
      CCDS38686.1
      UniProtKB/Swiss-Prot
      Q3TGP4, Q8K2Q5
      UniProtKB/TrEMBL
      B1AXC8
      Conserved Domains (1) summary
      cl02794
      Location:14 → 64
      Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

    5. NM_181391.4 → NP_852056.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7

      See identical proteins and their annotated locations for NP_852056.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the supported protein. Variants 1 through 5 all encode the same protein.
      Source sequence(s)
      AI851035, AK003308, AK007844
      Consensus CDS
      CCDS38686.1
      UniProtKB/Swiss-Prot
      Q3TGP4, Q8K2Q5
      UniProtKB/TrEMBL
      B1AXC8
      Related
      ENSMUSP00000041196.5, ENSMUST00000041122.11
      Conserved Domains (1) summary
      cl02794
      Location:14 → 64
      Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

    RNA

    1. NR_104354.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AI851035, AK003308, AK169018
      Related
      ENSMUST00000120732.8

    2. NR_104355.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) includes additional 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK003308, AL807387

    3. NR_104356.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) is shorter at the 5' end and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI851035, AK168647, AL807387, BY578448
      Related
      ENSMUST00000131746.2

    4. NR_104357.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AI851035, AK003308, AK168647, AV042014

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      3938847..3951382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017320349.3 → XP_017175838.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      Q3TGP4, Q8K2Q5
      UniProtKB/TrEMBL
      B1AXC8
      Conserved Domains (1) summary
      cl02794
      Location:14 → 64
      Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K2Q5.1 GenPept UniProtKB/Swiss-Prot:Q8K2Q5

    Gene LinkOut

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

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