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    COX16 cytochrome c oxidase assembly factor COX16 [ Homo sapiens (human) ]

    Gene ID: 51241, updated on 10-Dec-2024

    Summary

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    Official Symbol
    COX16provided by HGNC
    Official Full Name
    cytochrome c oxidase assembly factor COX16provided by HGNC
    Primary source
    HGNC:HGNC:20213
    See related
    Ensembl:ENSG00000133983 MIM:618064; AllianceGenome:HGNC:20213
    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
    hCOX16; HSPC203; MC4DN22; C14orf112
    Summary
    Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. Implicated in mitochondrial complex IV deficiency nuclear type 22. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in colon (RPKM 14.7), adrenal (RPKM 14.7) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See COX16 in Genome Data Viewer
    Location:
    14q24.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (70325081..70359683, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (64531030..64565566, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (70791798..70826400, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5886 Neighboring gene uncharacterized LOC105370552 Neighboring gene ADAM metallopeptidase domain 21 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:70755991-70756492 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:70768308-70768998 Neighboring gene SYNJ2BP-COX16 readthrough Neighboring gene uncharacterized LOC124903340 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:70816287-70817486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8652 Neighboring gene RNA, U2 small nuclear 51, pseudogene Neighboring gene synaptojanin 2 binding protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:70866018-70866578 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:70883594-70884793 Neighboring gene uncharacterized LOC124903339

    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. Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. Tay SK, et al. Arch Neurol, 2004 Dec. PMID 15596615
    2. COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis. Aich A, et al. Elife, 2018 Jan 30. PMID 29381136, Free PMC Article
    3. COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2. Cerqua C, et al. Biochim Biophys Acta Bioenerg, 2018 Apr. PMID 29355485
    4. A whole genome screen for HIV restriction factors. Liu L, et al. Retrovirology, 2011 Nov 14. PMID 22082156, Free PMC Article
    5. Comparative Host Interactomes of the SARS-CoV-2 Nonstructural Protein 3 and Human Coronavirus Homologs. Almasy KM, et al. Mol Cell Proteomics, 2021. PMID 34186245, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Here, the authors find that COX16, a protein required for cytochrome c oxidase assembly, interacts specifically with newly synthesized COX2 and its copper center-forming metallochaperones SCO1, SCO2, and COA6. The recruitment of SCO1 to the COX2-module is COX16- dependent and patient-mimicking mutations in SCO1 affect interaction with COX16.
      Title: COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis.
    2. COX16 is required for assembly of cytochrome C oxidase in human cells and is involved in copper delivery to COX2.
      Title: COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Mitochondrial complex IV deficiency, nuclear type 22
    MedGen: C5543491 OMIM: 619355 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough SYNJ2BP-COX16

    Readthrough gene: SYNJ2BP-COX16, Included gene: SYNJ2BP

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial cytochrome c oxidase assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    cytochrome c oxidase assembly protein COX16 homolog, mitochondrial
    Names
    COX16, cytochrome c oxidase assembly homolog

    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_001204090.2 → NP_001191019.1  cytochrome c oxidase assembly protein COX16 homolog, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001191019.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AW088547, CB156527, FJ460510
      UniProtKB/TrEMBL
      B8XYC5
      Conserved Domains (1) summary
      pfam14138
      Location:24 → 64
      COX16; Cytochrome c oxidase assembly protein COX16

    2. NM_016468.7 → NP_057552.1  cytochrome c oxidase assembly protein COX16 homolog, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_057552.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AW088547, FJ460510
      Consensus CDS
      CCDS9802.1
      UniProtKB/Swiss-Prot
      A6NDT5, A8K3X8, B8XYC5, Q9P0S2
      Related
      ENSP00000374562.5, ENST00000389912.7
      Conserved Domains (1) summary
      pfam14138
      Location:18 → 88
      COX16; Cytochrome c oxidase assembly protein COX16

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      70325081..70359683 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      64531030..64565566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0S2.1 GenPept UniProtKB/Swiss-Prot:Q9P0S2

    Gene LinkOut

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

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