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

Gene ID: 51241, updated on 2-Nov-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, Nov 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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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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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

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