Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitoch... See more...

Aliases for COX5B Gene

Aliases for COX5B Gene

  • Cytochrome C Oxidase Subunit 5B 2 3 5
  • Cytochrome C Oxidase Subunit 5B, Mitochondrial 3 4
  • Cytochrome C Oxidase Subunit Vb 2 3
  • Cytochrome C Oxidase Polypeptide VB, Mitochondrial 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Cytochrome C Oxidase Polypeptide Vb 4
  • COXVB 3
  • COX5B 5

External Ids for COX5B Gene

Previous GeneCards Identifiers for COX5B Gene

  • GC02P096143
  • GC02P096715
  • GC02P097867
  • GC02P097883
  • GC02P097721
  • GC02P098262
  • GC02P092031

Summaries for COX5B Gene

Entrez Gene Summary for COX5B Gene

  • Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX5B Gene

COX5B (Cytochrome C Oxidase Subunit 5B) is a Protein Coding gene. Diseases associated with COX5B include Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot Summary for COX5B Gene

  • Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.

Gene Wiki entry for COX5B Gene

Additional gene information for COX5B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX5B Gene

Genomics for COX5B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COX5B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX5B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX5B

Top Transcription factor binding sites by QIAGEN in the COX5B gene promoter:
  • AML1a
  • C/EBPalpha
  • GR
  • GR-alpha
  • p53
  • RFX1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for COX5B Gene

Genomic Locations for COX5B Gene
chr2:97,646,062-97,648,383
(GRCh38/hg38)
Size:
2,322 bases
Orientation:
Plus strand
chr2:98,262,503-98,264,846
(GRCh37/hg19)
Size:
2,344 bases
Orientation:
Plus strand

Genomic View for COX5B Gene

Genes around COX5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX5B Gene

Proteins for COX5B Gene

  • Protein details for COX5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10606-COX5B_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 5B, mitochondrial
    Protein Accession:
    P10606
    Secondary Accessions:
    • Q53YB7
    • Q96J18
    • Q99610

    Protein attributes for COX5B Gene

    Size:
    129 amino acids
    Molecular mass:
    13696 Da
    Quaternary structure:
    • Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695).

    Three dimensional structures from OCA and Proteopedia for COX5B Gene

neXtProt entry for COX5B Gene

Post-translational modifications for COX5B Gene

  • Ubiquitination at Lys57, Lys68, and Lys86
  • Modification sites at PhosphoSitePlus

Other Protein References for COX5B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for COX5B
  • Boster Bio Antibodies for COX5B

No data available for DME Specific Peptides for COX5B Gene

Domains & Families for COX5B Gene

Gene Families for COX5B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for COX5B Gene

InterPro:
Blocks:
  • Cytochrome c oxidase, subunit Vb
ProtoNet:

Suggested Antigen Peptide Sequences for COX5B Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase polypeptide Vb (COX5B_HUMAN)
  • COX5B protein (Q6FHJ9_HUMAN)
  • COX5B protein (Q6FHM4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10606

UniProtKB/Swiss-Prot:

COX5B_HUMAN :
  • Belongs to the cytochrome c oxidase subunit 5B family.
Family:
  • Belongs to the cytochrome c oxidase subunit 5B family.
genes like me logo Genes that share domains with COX5B: view

Function for COX5B Gene

Molecular function for COX5B Gene

UniProtKB/Swiss-Prot Function:
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
GENATLAS Biochemistry:
cytochrome c oxidase,subunit Vb,component of the complex IV,terminal enzyme complex for electron transfert,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

Phenotypes From GWAS Catalog for COX5B Gene

Gene Ontology (GO) - Molecular Function for COX5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity TAS,IEA --
GO:0005515 protein binding IPI 21516116
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COX5B: view
genes like me logo Genes that share phenotypes with COX5B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX5B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COX5B Gene

Localization for COX5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX5B Gene

Mitochondrion inner membrane. Peripheral membrane protein. Matrix 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 COX5B gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COX5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005740 mitochondrial envelope IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with COX5B: view

Pathways & Interactions for COX5B Gene

genes like me logo Genes that share pathways with COX5B: view

UniProtKB/Swiss-Prot P10606-COX5B_HUMAN

  • Pathway: Energy metabolism; oxidative phosphorylation.

SIGNOR curated interactions for COX5B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for COX5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IEA --
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IBA,TAS --
GO:0007585 respiratory gaseous exchange TAS 1646156
GO:0022900 electron transport chain IEA --
GO:0042776 mitochondrial ATP synthesis coupled proton transport IBA 21873635
genes like me logo Genes that share ontologies with COX5B: view

Drugs & Compounds for COX5B Gene

(4) Drugs for COX5B Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Agonist, Full agonist, Target 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
N-Formylmethionine Experimental Pharma Target 0
genes like me logo Genes that share compounds with COX5B: view

Transcripts for COX5B Gene

mRNA/cDNA for COX5B Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 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 COX5B

Alternative Splicing Database (ASD) splice patterns (SP) for COX5B Gene

No ASD Table

Relevant External Links for COX5B Gene

GeneLoc Exon Structure for
COX5B

Expression for COX5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COX5B Gene

mRNA differential expression in normal tissues according to GTEx for COX5B Gene

This gene is overexpressed in Heart - Left Ventricle (x4.0).

Protein differential expression in normal tissues from HIPED for COX5B Gene

This gene is overexpressed in Nasal epithelium (44.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX5B Gene



Protein tissue co-expression partners for COX5B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX5B

SOURCE GeneReport for Unigene cluster for COX5B Gene:

Hs.1342

Evidence on tissue expression from TISSUES for COX5B Gene

  • Liver(4.8)
  • Skin(4.5)
  • Heart(3.9)
  • Nervous system(3.7)
  • Intestine(3.5)
  • Muscle(3.3)
  • Kidney(3)
  • Blood(2.5)
  • Thyroid gland(2.5)
  • Spleen(2.4)
  • Stomach(2.3)
  • Pancreas(2.3)
  • Adrenal gland(2.3)
  • Eye(2.2)
  • Lymph node(2.1)
  • Lung(2.1)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with COX5B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX5B Gene

Orthologs for COX5B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for COX5B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC741789 30
  • 98.97 (n)
COX5B 31
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia COX5B 30 31
  • 85.53 (n)
OneToMany
-- 31
  • 55 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Gm11273 31
  • 84 (a)
OneToMany
Cox5b 31
  • 84 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia COX5B 31
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cox5b 30
  • 82.69 (n)
Oppossum
(Monodelphis domestica)
Mammalia COX5B 31
  • 79 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia COX5B 30 31
  • 76.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COX5B 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cox5b.2 30
  • 58.47 (n)
Str.6748 30
Zebrafish
(Danio rerio)
Actinopterygii COX5B (2 of 3) 31
  • 63 (a)
OneToMany
LOC100002384 30
  • 62.73 (n)
COX5B (1 of 3) 31
  • 62 (a)
OneToMany
cox5b2 31
  • 43 (a)
OneToMany
hmzeh0438 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.306 30
Fruit Fly
(Drosophila melanogaster)
Insecta CoVb 31
  • 34 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea cco-1 31
  • 28 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX4 33
Species where no ortholog for COX5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for COX5B Gene

ENSEMBL:
Gene Tree for COX5B (if available)
TreeFam:
Gene Tree for COX5B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX5B: view image

Paralogs for COX5B Gene

No data available for Paralogs for COX5B Gene

Variants for COX5B Gene

Additional dbSNP identifiers (rs#s) for COX5B Gene

Structural Variations from Database of Genomic Variants (DGV) for COX5B Gene

Variant ID Type Subtype PubMed ID
dgv4025n100 CNV gain 25217958
dgv4026n100 CNV gain 25217958
esv2759077 CNV gain+loss 17122850
esv2763630 CNV gain+loss 21179565
esv3575281 CNV gain 25503493
esv3575285 CNV gain 25503493
esv3591717 CNV gain 21293372
nsv522486 CNV gain 19592680

Variation tolerance for COX5B Gene

Residual Variation Intolerance Score: 69.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX5B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX5B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX5B Gene

Disorders for COX5B Gene

MalaCards: The human disease database

(1) MalaCards diseases for COX5B Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search COX5B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COX5B

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 COX5B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX5B Gene

Publications for COX5B Gene

  1. Phylogenetic footprinting of the human cytochrome c oxidase subunit VB promoter. (PMID: 8806766) Bachman NJ … Lomax MI (Archives of biochemistry and biophysics 1996) 3 4 23
  2. Structure of the human cytochrome c oxidase subunit Vb gene and chromosomal mapping of the coding gene and of seven pseudogenes. (PMID: 1646156) Lomax MI … Francke U (Genomics 1991) 3 4 23
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41

Products for COX5B Gene

  • Signalway Proteins for COX5B

Sources for COX5B Gene