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Aliases for COX5A Gene

Aliases for COX5A Gene

  • Cytochrome C Oxidase Subunit 5A 2 3 5
  • Cytochrome C Oxidase Polypeptide Va 3 4
  • Cytochrome C Oxidase Subunit Va 2 3
  • Cytochrome C Oxidase Polypeptide, Mitochondrial 3
  • Cytochrome C Oxidase Subunit 5A, Mitochondrial 3
  • Mitochondrial Cytochrome C Oxidase Subunit Va 3
  • COX-VA 3
  • COX 3
  • VA 3

External Ids for COX5A Gene

Previous GeneCards Identifiers for COX5A Gene

  • GC15M071071
  • GC15M068327
  • GC15M072788
  • GC15M072928
  • GC15M072999
  • GC15M075212
  • GC15M052009

Summaries for COX5A Gene

Entrez Gene Summary for COX5A 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 of 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 Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX5A Gene

COX5A (Cytochrome C Oxidase Subunit 5A) is a Protein Coding gene. Diseases associated with COX5A include Mitochondrial Complex Iv Deficiency and Mitochondrial Disorders. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include electron carrier activity and cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot for COX5A Gene

  • This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

Additional gene information for COX5A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX5A Gene

Genomics for COX5A Gene

Regulatory Elements for COX5A Gene

Enhancers for COX5A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H074773 1 Ensembl ENCODE dbSUPER 10.8 +164.2 164246 0 SOX13 CEBPA CEBPB CEBPG BCL6 CPLX3 LMAN1L COX5A FAM219B MPI SCAMP5 PTPN9 CSK CYP1A2
GH15H074626 0.8 ENCODE dbSUPER 10.6 +310.9 310856 2 HIC1 ZNF687 POLR2A ZNF600 SPI1 CYP1A1 CSK COX5A ENSG00000212279 FAM219B LOC101929333 SCAMP2 GC15P074629 ENSG00000260919
GH15H074630 0.6 ENCODE 10.6 +307.6 307594 0 ZNF687 POLR2A MAX EBF1 ZNF24 SUPT5H CYP1A1 CSK COX5A ENSG00000212279 FAM219B GC15P074629 EDC3
GH15H074622 0.5 dbSUPER 10.6 +313.8 313847 3 KLF1 POLR2A MNT ZNF600 ZIC2 CSK CYP1A1 ENSG00000212279 COX5A ULK3 UBL7-AS1 UBL7 FAM219B LOC101929333 SCAMP5
GH15H074936 1.1 ENCODE 0.7 +0.5 498 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 SIN3A ENSG00000260274 MAN2C1 EDC3 FBXO22 ENSG00000203392 RPP25 DNM1P35 LOC441728 CLK3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COX5A on UCSC Golden Path with GeneCards custom track

Promoters for COX5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079319 568 2401 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143

Genomic Location for COX5A Gene

Chromosome:
15
Start:
74,919,791 bp from pter
End:
74,938,168 bp from pter
Size:
18,378 bases
Orientation:
Minus strand

Genomic View for COX5A Gene

Genes around COX5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX5A Gene

Proteins for COX5A Gene

  • Protein details for COX5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20674-COX5A_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 5A, mitochondrial
    Protein Accession:
    P20674
    Secondary Accessions:
    • P30045
    • Q8TB65

    Protein attributes for COX5A Gene

    Size:
    150 amino acids
    Molecular mass:
    16762 Da
    Quaternary structure:
    • Interacts with AFG1L (PubMed:26759378).

neXtProt entry for COX5A Gene

Post-translational modifications for COX5A Gene

  • Ubiquitination at posLast=6262
  • Modification sites at PhosphoSitePlus

Other Protein References for COX5A Gene

No data available for DME Specific Peptides for COX5A Gene

Domains & Families for COX5A Gene

Gene Families for COX5A Gene

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

Protein Domains for COX5A Gene

Suggested Antigen Peptide Sequences for COX5A Gene

Graphical View of Domain Structure for InterPro Entry

P20674

UniProtKB/Swiss-Prot:

COX5A_HUMAN :
  • Belongs to the cytochrome c oxidase subunit 5A family.
Family:
  • Belongs to the cytochrome c oxidase subunit 5A family.
genes like me logo Genes that share domains with COX5A: view

Function for COX5A Gene

Molecular function for COX5A Gene

GENATLAS Biochemistry:
cytochrome c oxidase,subunit Va,component of the complex IV,terminal enzyme complex for electron transfer,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane
UniProtKB/Swiss-Prot Function:
This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

Phenotypes From GWAS Catalog for COX5A Gene

Gene Ontology (GO) - Molecular Function for COX5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0009055 electron carrier activity TAS 2853101
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COX5A: view
genes like me logo Genes that share phenotypes with COX5A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COX5A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COX5A Gene

Localization for COX5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX5A Gene

Mitochondrion inner membrane.

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 COX5A gene
Compartment Confidence
extracellular 5
mitochondrion 5
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for COX5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS,IDA --
GO:0005751 mitochondrial respiratory chain complex IV IMP 19393246
GO:0016020 membrane IEA --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with COX5A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX5A Gene

Pathways & Interactions for COX5A Gene

genes like me logo Genes that share pathways with COX5A: view

Gene Ontology (GO) - Biological Process for COX5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IBA,TAS --
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX5A: view

No data available for SIGNOR curated interactions for COX5A Gene

Drugs & Compounds for COX5A Gene

(82) Drugs for COX5A Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist, Target 0
N-Formylmethionine Experimental Pharma Target 0
Alpha-D-Glucose 1,6-bisphosphate Experimental Pharma 0
heme Pharma Agonist 0

(57) Additional Compounds for COX5A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
genes like me logo Genes that share compounds with COX5A: view

Transcripts for COX5A Gene

Unigene Clusters for COX5A Gene

Cytochrome c oxidase subunit Va:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COX5A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for COX5A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b
SP1: - -
SP2:
SP3: -
SP4: - - - - -

Relevant External Links for COX5A Gene

GeneLoc Exon Structure for
COX5A
ECgene alternative splicing isoforms for
COX5A

Expression for COX5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX5A Gene

mRNA differential expression in normal tissues according to GTEx for COX5A Gene

This gene is overexpressed in Heart - Left Ventricle (x7.1) and Muscle - Skeletal (x5.0).

Protein differential expression in normal tissues from HIPED for COX5A Gene

This gene is overexpressed in Nasal epithelium (23.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COX5A Gene



Protein tissue co-expression partners for COX5A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COX5A Gene:

COX5A

SOURCE GeneReport for Unigene cluster for COX5A Gene:

Hs.401903

Evidence on tissue expression from TISSUES for COX5A Gene

  • Heart(4.8)
  • Nervous system(4.8)
  • Liver(4.6)
  • Muscle(3.5)
  • Blood(3.2)
  • Intestine(3)
  • Kidney(2.9)
  • Lung(2.7)
  • Skin(2.7)
  • Stomach(2.6)
  • Lymph node(2.5)
  • Gall bladder(2.4)
  • Adrenal gland(2.2)
  • Pancreas(2.2)
  • Eye(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with COX5A: view

Primer Products

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 COX5A Gene

Orthologs for COX5A Gene

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

Orthologs for COX5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX5A 33 34
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia COX5A 33
  • 93.43 (n)
-- 34
  • 88 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia COX5A 33 34
  • 90.22 (n)
rat
(Rattus norvegicus)
Mammalia Cox5a 33
  • 88.13 (n)
mouse
(Mus musculus)
Mammalia Cox5a 33 16 34
  • 87.9 (n)
oppossum
(Monodelphis domestica)
Mammalia COX5A 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COX5A 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX5A 33 34
  • 80.82 (n)
lizard
(Anolis carolinensis)
Reptilia COX5A 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox5a 33
  • 74.38 (n)
Str.6885 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24153 33
zebrafish
(Danio rerio)
Actinopterygii cox5ab 34
  • 66 (a)
OneToMany
cox5aa 33 34 34
  • 64.72 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6286 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011159 33
  • 60.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CoVa 35 33 34
  • 56.02 (n)
worm
(Caenorhabditis elegans)
Secernentea cco-2 33 34
  • 58.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX6 34 36
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4863 34
  • 49 (a)
OneToOne
Species where no ortholog for COX5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 COX5A Gene

ENSEMBL:
Gene Tree for COX5A (if available)
TreeFam:
Gene Tree for COX5A (if available)

Paralogs for COX5A Gene

genes like me logo Genes that share paralogs with COX5A: view

No data available for Paralogs for COX5A Gene

Variants for COX5A Gene

Sequence variations from dbSNP and Humsavar for COX5A Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000058711 -- 74,933,697(+) TAAAC(A/G)CAAAC intron-variant
rs1000101425 -- 74,926,271(+) TCCTG(A/C)CCTCG intron-variant
rs1000211607 -- 74,922,310(+) GAACC(C/T)GGGAG intron-variant
rs1000242851 -- 74,922,043(+) ATAAA(C/T)AAATT intron-variant
rs1000531178 -- 74,921,111(+) TTATA(A/G)AATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COX5A Gene

Variant ID Type Subtype PubMed ID
esv2595466 CNV deletion 19546169
nsv1121512 CNV deletion 24896259
nsv1131201 CNV deletion 24896259
nsv1131202 CNV deletion 24896259
nsv1134471 CNV deletion 24896259

Variation tolerance for COX5A Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COX5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX5A Gene

Disorders for COX5A Gene

MalaCards: The human disease database

(16) MalaCards diseases for COX5A Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
mitochondrial disorders
  • mitochondrial encephalomyopathies
acquired idiopathic sideroblastic anemia
  • aisa
kearns-sayre syndrome
  • ophthalmoplegia
swayback
  • swayback of sheep
- elite association - COSMIC cancer census association via MalaCards
Search COX5A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COX5A_HUMAN
  • Note=Mitochondrial complex IV deficiency is a rare condition caused by mutation in COX5A that lead to pulmonary arterial hypertension (PAH), failure to thrive and lactic acidemia. {ECO:0000269 PubMed:28247525}.

Relevant External Links for COX5A

Genetic Association Database (GAD)
COX5A
Human Genome Epidemiology (HuGE) Navigator
COX5A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX5A
genes like me logo Genes that share disorders with COX5A: view

No data available for Genatlas for COX5A Gene

Publications for COX5A Gene

  1. Subunit Va of human and bovine cytochrome c oxidase is highly conserved. (PMID: 2853101) Rizzuto R … Schon EA (Gene 1988) 2 3 4 60
  2. The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits. (PMID: 26759378) Cesnekova J … Stiburek L (The Biochemical journal 2016) 3 4 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. Involvement of cytochrome c oxidase subunits Va and Vb in the regulation of cancer cell metabolism by Bcl-2. (PMID: 19834492) Chen ZX … Pervaiz S (Cell death and differentiation 2010) 3 22 60
  5. Molecular evolution of the cytochrome c oxidase subunit 5A gene in primates. (PMID: 18197981) Uddin M … Grossman LI (BMC evolutionary biology 2008) 3 4 60

Products for COX5A Gene

Sources for COX5A Gene

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