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COX11 cytochrome c oxidase copper chaperone COX11 [ Homo sapiens (human) ]

Gene ID: 1353, updated on 11-Apr-2024

Summary

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Official Symbol
COX11provided by HGNC
Official Full Name
cytochrome c oxidase copper chaperone COX11provided by HGNC
Primary source
HGNC:HGNC:2261
See related
Ensembl:ENSG00000166260 MIM:603648; AllianceGenome:HGNC:2261
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
COX11P; MC4DN23
Summary
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]
Expression
Ubiquitous expression in duodenum (RPKM 10.0), kidney (RPKM 6.9) and 25 other tissues See more
Orthologs
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Genomic context

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See COX11 in Genome Data Viewer
Location:
17q22
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (54951902..54968785, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (55826815..55843711, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53029263..53046146, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12406 Neighboring gene uncharacterized LOC124904032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12407 Neighboring gene target of myb1 like 1 membrane trafficking protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:53045085-53046034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:53046035-53046983 Neighboring gene syntaxin binding protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12412 Neighboring gene MPRA-validated peak2901 silencer Neighboring gene uncharacterized LOC107985002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8731 Neighboring gene VISTA enhancer hs2291 Neighboring gene Sharpr-MPRA regulatory regions 2486 and 1497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:53398039-53398539 Neighboring gene HLF transcription factor, PAR bZIP family member

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. Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy. Rius R, et al. Hum Mutat, 2022 Dec. PMID 36030551, Free PMC Article
  2. Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer. Esteves F, et al. Eur J Cancer, 2022 Sep. PMID 35772352
  3. RANBP2 mutation causing autosomal dominant acute necrotizing encephalopathy attenuates its interaction with COX11. Shibata A, et al. Neurosci Lett, 2021 Oct 15. PMID 34400285
  4. Association of STXBP4/COX11 rs6504950 (G>A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls. Tang L, et al. Arch Med Res, 2012 Jul. PMID 22863968
  5. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Ahmed S, et al. Nat Genet, 2009 May. PMID 19330027, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA FGD5-AS1 Alleviates Inflammation in Allergic Rhinitis through the miR-223-3p/COX11 Axis.
    Title: LncRNA FGD5-AS1 Alleviates Inflammation in Allergic Rhinitis through the miR-223-3p/COX11 Axis.
  2. Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.
    Title: Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.
  3. Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
    Title: Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
  4. Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer.
    Title: Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer.
  5. RANBP2 mutation causing autosomal dominant acute necrotizing encephalopathy attenuates its interaction with COX11.
    Title: RANBP2 mutation causing autosomal dominant acute necrotizing encephalopathy attenuates its interaction with COX11.
  6. meta-analysis suggested that polymorphism STXBP4/COX11 rs6504950 variant was significantly associated with breast cancer risk; the A allele of rs6504950 decreased the risk of breast cancer
    Title: Association of STXBP4/COX11 rs6504950 (G>A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls.
  7. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.
  8. 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 23
MedGen: C5830322 OMIM: 620275 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
EBI GWAS Catalog

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

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables copper ion binding IEA
Inferred from Electronic Annotation
more info
  
enables electron transfer activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ATP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular monoatomic cation homeostasis IDA
Inferred from Direct Assay
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 mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cytochrome c oxidase assembly protein COX11, mitochondrial
Names
COX11 homolog, cytochrome c oxidase assembly protein
COX11, cytochrome c oxidase copper chaperone
cytochrome c oxidase subunit 11

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_001162861.2 → NP_001156333.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region resulting in a frameshift, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK293851, BF725369, BM975167, W33157
    UniProtKB/TrEMBL
    B4DEY8
    Conserved Domains (1) summary
    cl01240
    Location:62 → 216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11

  2. NM_001162862.2 → NP_001156334.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region resulting in a frameshift, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI828544, AK293851, BF725369, W33157
    Consensus CDS
    CCDS58579.1
    UniProtKB/TrEMBL
    B4DEY8
    Conserved Domains (1) summary
    cl01240
    Location:62 → 216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11

  3. NM_001321518.1 → NP_001308447.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK295381, BF725369, CA306557
    Consensus CDS
    CCDS82162.1
    UniProtKB/TrEMBL
    B4DI26
    Related
    ENSP00000460043.1, ENST00000571584.1
    Conserved Domains (1) summary
    cl01240
    Location:62 → 216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11

  4. NM_004375.5 → NP_004366.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_004366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC007485, AK293851, BF725369, W33157
    Consensus CDS
    CCDS11583.1
    UniProtKB/Swiss-Prot
    D3DTY5, I3L220, Q6FHB7, Q9BRX0, Q9UME8, Q9Y6N1
    Related
    ENSP00000299335.3, ENST00000299335.8
    Conserved Domains (1) summary
    PTZ00128
    Location:62 → 265
    PTZ00128; cytochrome c oxidase assembly protein-like; Provisional

RNA

  1. NR_027941.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents an alternate splice pattern in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI500638, AK293851, BF725369, BM975167

  2. NR_027942.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents an alternate splice pattern in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI500638, AI828544, AK293851, BF725369

  3. NR_135677.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007485, AF044321, BF725369

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    54951902..54968785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024196.3 → XP_016879685.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q9Y6N1
    Related
    ENSP00000459302.1, ENST00000572558.5
    Conserved Domains (1) summary
    cl01240
    Location:62 → 216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11

  2. XM_024450583.2 → XP_024306351.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl01240
    Location:62 → 216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11

  3. XM_024450584.2 → XP_024306352.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl01240
    Location:62 → 216
    CtaG_Cox11; Cytochrome c oxidase assembly protein CtaG/Cox11

  4. XM_047435370.1 → XP_047291326.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D3DTY5, I3L220, Q6FHB7, Q9BRX0, Q9UME8, Q9Y6N1
    Related
    ENSP00000459901.1, ENST00000576370.5

  5. XM_011524342.4 → XP_011522644.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011522644.1

    UniProtKB/Swiss-Prot
    D3DTY5, I3L220, Q6FHB7, Q9BRX0, Q9UME8, Q9Y6N1
    Conserved Domains (1) summary
    PTZ00128
    Location:62 → 265
    PTZ00128; cytochrome c oxidase assembly protein-like; Provisional

  6. XM_017024192.3 → XP_016879681.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D3DTY5, I3L220, Q6FHB7, Q9BRX0, Q9UME8, Q9Y6N1
    Conserved Domains (1) summary
    PTZ00128
    Location:62 → 265
    PTZ00128; cytochrome c oxidase assembly protein-like; Provisional

  7. XM_047435372.1 → XP_047291328.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D3DTY5, I3L220, Q6FHB7, Q9BRX0, Q9UME8, Q9Y6N1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    55826815..55843711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315086.1 → XP_054171061.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X2

  2. XM_054315087.1 → XP_054171062.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X2

  3. XM_054315088.1 → XP_054171063.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X2

  4. XM_054315084.1 → XP_054171059.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D3DTY5, I3L220, Q6FHB7, Q9BRX0, Q9UME8, Q9Y6N1

  5. XM_054315085.1 → XP_054171060.1  cytochrome c oxidase assembly protein COX11, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D3DTY5, I3L220, Q6FHB7, Q9BRX0, Q9UME8, Q9Y6N1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6N1.3 GenPept UniProtKB/Swiss-Prot:Q9Y6N1

Gene LinkOut

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

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