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Aliases for COASY Gene

Aliases for COASY Gene

  • CoA Synthase 2 3 4
  • POV-2 3 4
  • NBIA6 3 6
  • NBP 3 4
  • Bifunctional Phosphopantetheine Adenylyl Transferase/Dephospho CoA Kinase 3
  • Phosphopantetheine Adenylyltransferase / Dephosphocoenzyme A Kinase 3
  • Bifunctional Coenzyme A Synthase 3
  • Nucleotide Binding Protein 3
  • Coenzyme A Synthase 2
  • DPCK 3
  • PPAT 3
  • UKR1 3

External Ids for COASY Gene

Previous GeneCards Identifiers for COASY Gene

  • GC17P041088
  • GC17P037967
  • GC17P040714
  • GC17P036478

Summaries for COASY Gene

Entrez Gene Summary for COASY Gene

  • Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]

GeneCards Summary for COASY Gene

COASY (CoA Synthase) is a Protein Coding gene. Diseases associated with COASY include neurodegeneration with brain iron accumulation 6 and coasy protein-associated neurodegeneration. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include dephospho-CoA kinase activity and pantetheine-phosphate adenylyltransferase activity.

UniProtKB/Swiss-Prot for COASY Gene

  • Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation.

Gene Wiki entry for COASY Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COASY Gene

Genomics for COASY Gene

Regulatory Elements for COASY Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COASY Gene

Start:
42,561,467 bp from pter
End:
42,566,281 bp from pter
Size:
4,815 bases
Orientation:
Plus strand

Genomic View for COASY Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COASY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COASY Gene

Proteins for COASY Gene

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

    Protein Symbol:
    Q13057-COASY_HUMAN
    Recommended name:
    Bifunctional coenzyme A synthase
    Protein Accession:
    Q13057
    Secondary Accessions:
    • B2RA78
    • B4DLU0
    • Q6GS23
    • Q8NBM7
    • Q8NEW1
    • Q8WXD4
    • Q9NRM3

    Protein attributes for COASY Gene

    Size:
    564 amino acids
    Molecular mass:
    62329 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAA69699.1; Type=Frameshift; Positions=535; Evidence={ECO:0000305}; Sequence=AAF87955.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH06354.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH20985.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AK075415; Type=Frameshift; Positions=315; Evidence={ECO:0000305};

    Alternative splice isoforms for COASY Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COASY Gene

Proteomics data for COASY Gene at MOPED

Post-translational modifications for COASY Gene

  • Ubiquitination at Lys235 and Lys554
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COASY Gene

Domains for COASY Gene

Suggested Antigen Peptide Sequences for COASY Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13057

UniProtKB/Swiss-Prot:

COASY_HUMAN :
  • Q13057
Domain:
  • Contains 1 DPCK (dephospho-CoA kinase) domain.
Family:
  • In the central section; belongs to the eukaryotic CoaD family.
genes like me logo Genes that share domains with COASY: view

No data available for Gene Families for COASY Gene

Function for COASY Gene

Molecular function for COASY Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=7.6 mM for 4-phoshopantetheine; KM=145 mM for ATP (in the PPAT reaction); KM=16.7 mM for dephospho-CoA; KM=34.4 mM for ATP (in the DPCK reaction);
UniProtKB/Swiss-Prot CatalyticActivity: ATP + pantetheine 4-phosphate = diphosphate + 3-dephospho-CoA
UniProtKB/Swiss-Prot CatalyticActivity: ATP + 3-dephospho-CoA = ADP + CoA
UniProtKB/Swiss-Prot Function: Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation.

Gene Ontology (GO) - Molecular Function for COASY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004140 dephospho-CoA kinase activity IDA 11923312
GO:0004595 pantetheine-phosphate adenylyltransferase activity IDA 11923312
GO:0005515 protein binding IPI 22982864
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with COASY: view

Phenotypes for COASY Gene

genes like me logo Genes that share phenotypes with COASY: view

Animal Model Products

CRISPR Products

miRNA for COASY Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COASY

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for COASY Gene

Localization for COASY Gene

Subcellular locations from UniProtKB/Swiss-Prot for COASY Gene

Cytoplasm. Mitochondrion matrix. Note=The protein is mainly present in the mitochondrial matrix, probably anchored to the inner mitochondrial membrane, but is also present in cell lysate.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COASY Gene COMPARTMENTS Subcellular localization image for COASY gene
Compartment Confidence
cytosol 4
mitochondrion 4
nucleus 4
peroxisome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for COASY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005759 mitochondrial matrix IDA 24360804
genes like me logo Genes that share ontologies with COASY: view

Pathways for COASY Gene

SuperPathways for COASY Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Purine metabolism (REACTOME)
3 One carbon pool by folate
4 Metabolism
5 Pyrimidine metabolism
genes like me logo Genes that share pathways with COASY: view

UniProtKB/Swiss-Prot Q13057-COASY_HUMAN

  • Pathway: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 4/5
  • Pathway: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 5/5

Gene Ontology (GO) - Biological Process for COASY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0008219 cell death --
GO:0009058 biosynthetic process --
GO:0009108 coenzyme biosynthetic process TAS --
genes like me logo Genes that share ontologies with COASY: view

Compounds for COASY Gene

(7) HMDB Compounds for COASY Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0
Dephospho-CoA
  • 3'-O-dephosphono-Coenzyme A
3633-59-8
Pantetheine 4'-phosphate
  • 4'-Phosphopantetheine
2226-71-3

(3) Novoseek inferred chemical compound relationships for COASY Gene

Compound -log(P) Hits PubMed IDs
dephospho coa 97.2 6
4-phosphopantetheine 90.7 8
phosphatidylcholine 38.2 1
genes like me logo Genes that share compounds with COASY: view

Transcripts for COASY Gene

Unigene Clusters for COASY Gene

CoA synthase:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COASY

Primer Products

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2:
SP3:
SP4: - - - -
SP5: -
SP6: -
SP7: - -
SP8: -
SP9: - -
SP10:
SP11: - -

Relevant External Links for COASY Gene

GeneLoc Exon Structure for
COASY
ECgene alternative splicing isoforms for
COASY

Expression for COASY Gene

mRNA expression in normal human tissues for COASY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COASY Gene

SOURCE GeneReport for Unigene cluster for COASY Gene Hs.296422

mRNA Expression by UniProt/SwissProt for COASY Gene

Q13057-COASY_HUMAN
Tissue specificity: Expressed in all tissues examined including brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocyte. Lowest expression in peripheral blood leukocytes and highest in kidney and liver. Isoform 2 is expressed mainly in the brain.
genes like me logo Genes that share expressions with COASY: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for COASY Gene

Orthologs for COASY Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COASY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COASY 35
  • 99.27 (n)
  • 99.33 (a)
COASY 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COASY 35
  • 89.67 (n)
  • 91.53 (a)
COASY 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COASY 35
  • 89.33 (n)
  • 91.3 (a)
COASY 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coasy 35
  • 85.54 (n)
  • 87.5 (a)
Coasy 16
Coasy 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COASY 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coasy 35
  • 85.71 (n)
  • 86.25 (a)
chicken
(Gallus gallus)
Aves COASY 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COASY 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coasy 35
  • 62.65 (n)
  • 61.67 (a)
zebrafish
(Danio rerio)
Actinopterygii coasy 35
  • 57.43 (n)
  • 53.39 (a)
coasy 36
  • 52 (a)
OneToOne
Dr.17697 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005460 35
  • 54.48 (n)
  • 47.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ppat-Dpck 35
  • 50.52 (n)
  • 40.59 (a)
Ppat-Dpck 36
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y65B4A.8 35
  • 47.39 (n)
  • 39.46 (a)
Y65B4A.8 36
  • 38 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB4 36
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons COAD 35
  • 48.03 (n)
  • 38.16 (a)
rice
(Oryza sativa)
Liliopsida Os07g0179400 35
  • 49.16 (n)
  • 40.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for COASY:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COASY Gene

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

Paralogs for COASY Gene

Selected SIMAP similar genes for COASY Gene using alignment to 8 proteins:

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

No data available for Paralogs for COASY Gene

Variants for COASY Gene

Sequence variations from dbSNP and Humsavar for COASY Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs598126 -- 42,564,502(-) TTCTC(C/T)GTATG reference, synonymous-codon, nc-transcript-variant
rs615942 - 42,562,786(-) GGCTG(G/T)ACTGG missense, reference, nc-transcript-variant
rs621141 -- 42,560,399(+) AGGCA(C/G)TAAAA upstream-variant-2KB
rs629861 -- 42,561,996(-) GTGAA(G/T)CCTTG upstream-variant-2KB
rs666039 -- 42,563,552(-) CAGAT(A/C)CCTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv908249 CNV Loss 21882294
dgv3172n71 CNV Loss 21882294
esv33998 OTHER Inversion 15654335
nsv908255 CNV Loss 21882294

Relevant External Links for COASY Gene

HapMap Linkage Disequilibrium report
COASY
Human Gene Mutation Database (HGMD)
COASY

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

Disorders for COASY Gene

(1) OMIM Diseases for COASY Gene (609855)

UniProtKB/Swiss-Prot

COASY_HUMAN
  • Neurodegeneration with brain iron accumulation 6 (NBIA6) [MIM:615643]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. {ECO:0000269 PubMed:24360804}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COASY

Genetic Association Database (GAD)
COASY
Human Genome Epidemiology (HuGE) Navigator
COASY
genes like me logo Genes that share disorders with COASY: view

Publications for COASY Gene

  1. Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics. (PMID: 11923312) Daugherty M. … Osterman A. (J. Biol. Chem. 2002) 2 3 4
  2. Molecular cloning of CoA Synthase. The missing link in CoA biosynthesis. (PMID: 11980892) Zhyvoloup A. … Gout I.T. (J. Biol. Chem. 2002) 2 3
  3. Identification and characterization of the gene encoding the human phosphopantetheine adenylyltransferase and dephospho-CoA kinase bifunctional enzyme (CoA synthase). (PMID: 11994049) Aghajanian S. … Worrall D.M. (Biochem. J. 2002) 3 4
  4. Specific interaction between S6K1 and CoA synthase: a potential link between the mTOR/S6K pathway, CoA biosynthesis and energy metabolism. (PMID: 15589845) Nemazanyy I. … Filonenko V. (FEBS Lett. 2004) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for COASY Gene

  • Addgene plasmids for COASY

Sources for COASY Gene

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