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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
    mouse all
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    Genomic context

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    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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