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    COA4 cytochrome c oxidase assembly factor 4 homolog [ Homo sapiens (human) ]

    Gene ID: 51287, updated on 5-Mar-2024

    Summary

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    Official Symbol
    COA4provided by HGNC
    Official Full Name
    cytochrome c oxidase assembly factor 4 homologprovided by HGNC
    Primary source
    HGNC:HGNC:24604
    See related
    Ensembl:ENSG00000181924 MIM:608016; AllianceGenome:HGNC:24604
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMC3; E2IG2; CHCHD8
    Summary
    Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 7.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    11q13.4
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73872667..73876846, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73801816..73805995, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73583712..73587891, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L48 Neighboring gene RN7SK pseudogene 243 Neighboring gene MIX23 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 5745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5244 Neighboring gene proteasomal ATPase associated factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73608007-73608786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5245 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73631557-73631769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73637447-73637946 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73643667-73643917 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73647840-73648474 Neighboring gene DnaJ heat shock protein family (Hsp40) member B13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3750

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Effects of estrogen on global gene expression: identification of novel targets of estrogen action. Charpentier AH, et al. Cancer Res, 2000 Nov 1. PMID 11085516
    2. Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family. Bestwick M, et al. Mol Cell Biol, 2010 Sep. PMID 20624914, Free PMC Article
    3. Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells. Fischer M, et al. Mol Biol Cell, 2013 Jul. PMID 23676665, Free PMC Article
    4. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    5. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117206, DKFZp762H1711

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in mitochondrial cytochrome c oxidase assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytochrome c oxidase assembly factor 4 homolog, mitochondrial
    Names
    E2-induced gene 2 protein
    coiled-coil-helix-coiled-coil-helix domain containing 8
    coiled-coil-helix-coiled-coil-helix domain-containing protein 8

    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_016565.3 → NP_057649.2  cytochrome c oxidase assembly factor 4 homolog, mitochondrial

      See identical proteins and their annotated locations for NP_057649.2

      Status: VALIDATED

      Source sequence(s)
      AK000434, AP002770
      Consensus CDS
      CCDS8225.1
      UniProtKB/Swiss-Prot
      B2RAA0, Q69YU4, Q9NYJ1
      Related
      ENSP00000347919.4, ENST00000355693.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      73872667..73876846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017884.2 → XP_016873373.1  cytochrome c oxidase assembly factor 4 homolog, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      B2RAA0, Q69YU4, Q9NYJ1
      Related
      ENSP00000437772.1, ENST00000537289.1

    2. XM_017017883.2 → XP_016873372.1  cytochrome c oxidase assembly factor 4 homolog, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9NYJ1
      Related
      ENSP00000440756.1, ENST00000541455.1
      Conserved Domains (1) summary
      pfam06747
      Location:43 → 76
      CHCH; CHCH domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      73801816..73805995 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369060.1 → XP_054225035.1  cytochrome c oxidase assembly factor 4 homolog, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      B2RAA0, Q69YU4, Q9NYJ1

    2. XM_054369059.1 → XP_054225034.1  cytochrome c oxidase assembly factor 4 homolog, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYJ1.2 GenPept UniProtKB/Swiss-Prot:Q9NYJ1

    Gene LinkOut

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

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