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    Cox18 cytochrome c oxidase assembly protein 18 [ Mus musculus (house mouse) ]

    Gene ID: 231430, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Cox18provided by MGI
    Official Full Name
    cytochrome c oxidase assembly protein 18provided by MGI
    Primary source
    MGI:MGI:2448532
    See related
    Ensembl:ENSMUSG00000035505 AllianceGenome:MGI:2448532
    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
    Summary
    Predicted to enable membrane insertase activity. Predicted to be involved in mitochondrial cytochrome c oxidase assembly; protein insertion into mitochondrial inner membrane from matrix; and protein insertion into mitochondrial membrane. Located in mitochondrion. Orthologous to human COX18 (cytochrome c oxidase assembly factor COX18). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in adrenal adult (RPKM 58.2), ovary adult (RPKM 20.6) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 E1; 5 44.32 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (90362583..90371828, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (90214724..90224595, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 5A-like 3, pseudogene Neighboring gene predicted gene, 35936 Neighboring gene STARR-seq mESC enhancer starr_13591 Neighboring gene STARR-positive B cell enhancer ABC_E4763 Neighboring gene STARR-seq mESC enhancer starr_13593 Neighboring gene ankyrin repeat domain 17 Neighboring gene STARR-seq mESC enhancer starr_13595 Neighboring gene STARR-positive B cell enhancer ABC_E10327 Neighboring gene STARR-seq mESC enhancer starr_13598 Neighboring gene predicted gene 9958 Neighboring gene predicted gene, 35999

    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. Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo. Evsikov AV, et al. Genes Dev, 2006 Oct 1. PMID 17015433, Free PMC Article
    2. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article
    3. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    4. 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
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (18) 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)
    • Gene trapped (1) 
    • Endonuclease-mediated (1) 

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables membrane insertase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables membrane insertase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial cytochrome c oxidase assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial cytochrome c oxidase assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein insertion into mitochondrial inner membrane from matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein insertion into mitochondrial inner membrane from matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein insertion into mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in respiratory chain complex IV assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    cytochrome c oxidase assembly protein COX18, mitochondrial
    Names
    COX18 cytochrome c oxidase assembly homolog
    mitochondrial inner membrane protein COX18

    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_001033310.4 → NP_001028482.2  cytochrome c oxidase assembly protein COX18, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001028482.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, that results in a protein (isoform 2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AC162171
      Consensus CDS
      CCDS19411.1
      UniProtKB/Swiss-Prot
      A6H626, G3X965, Q3U1D5, Q8VC74
      UniProtKB/TrEMBL
      B7ZNW4
      Related
      ENSMUSP00000044144.8, ENSMUST00000048363.10
      Conserved Domains (1) summary
      cl00489
      Location:68 → 296
      60KD_IMP; 60Kd inner membrane protein

    2. NM_001163456.2 → NP_001156928.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001156928.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC162171
      Consensus CDS
      CCDS51543.1
      UniProtKB/TrEMBL
      B7ZNW4, G5E8U6
      Related
      ENSMUSP00000113353.2, ENSMUST00000118816.6
      Conserved Domains (1) summary
      cl00489
      Location:68 → 297
      60KD_IMP; 60Kd inner membrane protein

    RNA

    1. NR_028088.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region, compared to variant 1, that results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC162171

    2. NR_189627.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC162171

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      90362583..90371828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VC74.5 GenPept UniProtKB/Swiss-Prot:Q8VC74

    Gene LinkOut

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

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