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 electr... See more...

Aliases for COX11 Gene

Aliases for COX11 Gene

  • Cytochrome C Oxidase Copper Chaperone COX11 2 3 5
  • Cytochrome C Oxidase Assembly Protein COX11, Mitochondrial 3 4
  • COX11, Cytochrome C Oxidase Copper Chaperone 2 3
  • Cytochrome C Oxidase Subunit 11 2 3
  • COX11P 2 3
  • COX11 (Yeast) Homolog, Cytochrome C Oxidase Assembly Protein 2
  • COX11 Homolog, Cytochrome C Oxidase Assembly Protein 3
  • Cytochrome C Oxidase Assembly Homolog 11 (Yeast) 2
  • Cytochrome C Oxidase Assembly Protein COX11 2
  • COX11 5

External Ids for COX11 Gene

Previous GeneCards Identifiers for COX11 Gene

  • GC17M052759
  • GC17M055510
  • GC17M053339
  • GC17M053503
  • GC17M050384
  • GC17M053029
  • GC17M048388

Summaries for COX11 Gene

Entrez Gene Summary for COX11 Gene

  • 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]

GeneCards Summary for COX11 Gene

COX11 (Cytochrome C Oxidase Copper Chaperone COX11) is a Protein Coding gene. Diseases associated with COX11 include Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation and Spinal Muscular Atrophy, Distal, X-Linked 3. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Copper homeostasis. Gene Ontology (GO) annotations related to this gene include electron transfer activity and cytochrome-c oxidase activity. An important paralog of this gene is METTL17.

UniProtKB/Swiss-Prot Summary for COX11 Gene

  • Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I.

Additional gene information for COX11 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX11 Gene

Genomics for COX11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COX11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J054967 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 625.4 -0.2 -203 5.6 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 REST COX11 STXBP4 NONHSAG022253.2 HLF
GH17J054947 Enhancer 0.9 Ensembl ENCODE 29.5 +19.8 19759 3.7 GATAD2A RCOR2 PRDM1 CEBPA SOX13 HMBOX1 RUNX3 TGIF2 FOXA2 FOS COX11 STXBP4 ENSG00000279059 lnc-MMD-9 RF00017-2451 TOM1L1
GH17J054898 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 +67.5 67457 5.2 HNRNPL CREB1 GATAD2A ZBTB33 PRDM10 REST ZNF629 TFE3 IKZF1 NFKBIZ TOM1L1 lnc-STXBP4-8 STXBP4 COX11 RF00017-2451
GH17J055089 Enhancer 0.9 Ensembl ENCODE 18.1 -121.6 -121615 2 BACH1 JUND RELA IKZF2 PKNOX1 NRF1 SP1 DPF2 RELB RUNX3 LOC107985002 COX11 STXBP4 lnc-HLF-3 HLF
GH17J054944 Enhancer 0.6 ENCODE 29.5 +23.6 23587 2.2 IKZF1 PKNOX1 NFE2 ZNF316 DPF2 BRF2 MEIS2 SMARCE1 ZNF558 CBFA2T3 COX11 STXBP4 RF00017-2451 ENSG00000279059 lnc-MMD-9 TOM1L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX11

Top Transcription factor binding sites by QIAGEN in the COX11 gene promoter:
  • aMEF-2
  • FOXD1
  • Max1
  • MEF-2
  • MEF-2A
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for COX11 Gene

Genomic Locations for COX11 Gene
chr17:54,951,898-54,968,785
(GRCh38/hg38)
Size:
16,888 bases
Orientation:
Minus strand
chr17:53,029,259-53,046,146
(GRCh37/hg19)
Size:
16,888 bases
Orientation:
Minus strand

Genomic View for COX11 Gene

Genes around COX11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX11 Gene

Proteins for COX11 Gene

  • Protein details for COX11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6N1-COX11_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly protein COX11, mitochondrial
    Protein Accession:
    Q9Y6N1
    Secondary Accessions:
    • D3DTY5
    • I3L220
    • Q6FHB7
    • Q9BRX0
    • Q9UME8

    Protein attributes for COX11 Gene

    Size:
    276 amino acids
    Molecular mass:
    31430 Da
    Quaternary structure:
    • Interacts with CNNM4/ACDP4.

    Alternative splice isoforms for COX11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COX11 Gene

Post-translational modifications for COX11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COX11 Gene

Domains & Families for COX11 Gene

Gene Families for COX11 Gene

Protein Domains for COX11 Gene

InterPro:
Blocks:
  • Cytochrome c oxidase assembly protein CtaG/Cox11
ProtoNet:

Suggested Antigen Peptide Sequences for COX11 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase assembly protein COX11, mitochondrial (COX11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6N1

UniProtKB/Swiss-Prot:

COX11_HUMAN :
  • Belongs to the COX11/CtaG family.
Family:
  • Belongs to the COX11/CtaG family.
genes like me logo Genes that share domains with COX11: view

Function for COX11 Gene

Molecular function for COX11 Gene

UniProtKB/Swiss-Prot Function:
Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I.
GENATLAS Biochemistry:
cytochrome c oxidase,subunit 11,inner mitochondrial membrane in yeast,maybe an heme biosynthetic enzyme:farnesyl transferase as COX10

Phenotypes From GWAS Catalog for COX11 Gene

Gene Ontology (GO) - Molecular Function for COX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IEA --
GO:0005515 protein binding IPI 15840172
GO:0009055 electron transfer activity TAS 9878253
genes like me logo Genes that share ontologies with COX11: view
genes like me logo Genes that share phenotypes with COX11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX11

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for COX11 Gene

Localization for COX11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX11 Gene

Mitochondrion inner membrane. Single-pass membrane protein. Intermembrane side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COX11 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for COX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 9878253
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IDA 15229189
genes like me logo Genes that share ontologies with COX11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX11 Gene

Pathways & Interactions for COX11 Gene

genes like me logo Genes that share pathways with COX11: view

Pathways by source for COX11 Gene

Gene Ontology (GO) - Biological Process for COX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022900 electron transport chain IEA --
GO:0033132 negative regulation of glucokinase activity IEA --
GO:0055065 metal ion homeostasis IDA 15840172
genes like me logo Genes that share ontologies with COX11: view

No data available for SIGNOR curated interactions for COX11 Gene

Drugs & Compounds for COX11 Gene

(1) Drugs for COX11 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma 249
genes like me logo Genes that share compounds with COX11: view

Transcripts for COX11 Gene

mRNA/cDNA for COX11 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX11

Alternative Splicing Database (ASD) splice patterns (SP) for COX11 Gene

No ASD Table

Relevant External Links for COX11 Gene

GeneLoc Exon Structure for
COX11

Expression for COX11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COX11 Gene

Protein differential expression in normal tissues from HIPED for COX11 Gene

This gene is overexpressed in Urine (48.1) and Peripheral blood mononuclear cells (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX11 Gene



Protein tissue co-expression partners for COX11 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX11

SOURCE GeneReport for Unigene cluster for COX11 Gene:

Hs.591171

mRNA Expression by UniProt/SwissProt for COX11 Gene:

Q9Y6N1-COX11_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for COX11 Gene

  • Nervous system(4.8)
  • Eye(2.3)
  • Muscle(2.3)
  • Skin(2.3)
  • Kidney(2.2)
  • Heart(2.2)
  • Liver(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with COX11: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX11 Gene

Orthologs for COX11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COX11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC748332 30
  • 98.55 (n)
COX11 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia COX11 30 31
  • 87.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COX11 30 31
  • 86.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cox11 30 17 31
  • 84.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cox11 30
  • 84.48 (n)
Oppossum
(Monodelphis domestica)
Mammalia COX11 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COX11 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COX11 30 31
  • 73.02 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COX11 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100491545 30
  • 72.79 (n)
Str.5897 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.23905 30
Zebrafish
(Danio rerio)
Actinopterygii cox11 30 31
  • 67.75 (n)
OneToOne
Dr.14827 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7260 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010443 30
  • 59.57 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31648 30 31
  • 56.99 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_JC8.5 30
  • 58.65 (n)
JC8.5 32
  • 58 (a)
cox-11 31
  • 45 (a)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07007g 30
  • 56.69 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR106C 30
  • 55.43 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX11 30 31 33
  • 50.07 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G02410 30
  • 60.31 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0718600 30
  • 63.51 (n)
Os.24044 30
Barley
(Hordeum vulgare)
Liliopsida Hv.1497 30
Wheat
(Triticum aestivum)
Liliopsida Ta.6887 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cox1102 30
  • 60.89 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7833 30
Species where no ortholog for COX11 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for COX11 Gene

ENSEMBL:
Gene Tree for COX11 (if available)
TreeFam:
Gene Tree for COX11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX11: view image

Paralogs for COX11 Gene

Paralogs for COX11 Gene

Pseudogenes.org Pseudogenes for COX11 Gene

genes like me logo Genes that share paralogs with COX11: view

Variants for COX11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX11 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs34080917 - p.Pro74Leu

Additional dbSNP identifiers (rs#s) for COX11 Gene

Structural Variations from Database of Genomic Variants (DGV) for COX11 Gene

Variant ID Type Subtype PubMed ID
dgv3266n100 CNV loss 25217958
dgv5708n54 CNV loss 21841781
esv3640830 CNV gain 21293372
esv3640831 CNV loss 21293372
nsv111920 CNV deletion 16902084
nsv457853 CNV loss 19166990
nsv522299 CNV loss 19592680
nsv575661 CNV loss 21841781
nsv962343 CNV duplication 23825009

Variation tolerance for COX11 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX11

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX11 Gene

Disorders for COX11 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COX11 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search COX11 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COX11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with COX11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX11 Gene

Publications for COX11 Gene

  1. Physical interaction and functional coupling between ACDP4 and the intracellular ion chaperone COX11, an implication of the role of ACDP4 in essential metal ion transport and homeostasis. (PMID: 15840172) Guo D … Wang CY (Molecular pain 2005) 2 3 4
  2. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. (PMID: 9878253) Petruzzella V … Zeviani M (Genomics 1998) 2 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. (PMID: 20601676) Fransen K … Weersma RK (Human molecular genetics 2010) 3 41
  5. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. (PMID: 19330027) Ahmed S … Easton DF (Nature genetics 2009) 3 41

Products for COX11 Gene

  • Signalway Proteins for COX11

Sources for COX11 Gene