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Aliases for COASY Gene

Aliases for COASY Gene

  • Coenzyme A Synthase 2 3 5
  • CoA Synthase 2 3 4
  • POV-2 3 4
  • NBP 3 4
  • Bifunctional Phosphopantetheine Adenylyl Transferase/Dephospho CoA Kinase 3
  • Phosphopantetheine Adenylyltransferase / Dephosphocoenzyme A Kinase 3
  • Nucleotide Binding Protein 3
  • NBIA6 3
  • 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 (Coenzyme A 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 Pantothenate and CoA biosynthesis and Metabolism of water-soluble vitamins and cofactors. 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

Enhancers for COASY Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COASY on UCSC Golden Path with GeneCards custom track

Promoters for COASY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COASY on UCSC Golden Path with GeneCards custom track

Genomic Location for COASY Gene

Chromosome:
17
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

Genes around COASY on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COASY Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 235 and Lys 554
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COASY Gene

Domains & Families 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 :
  • Contains 1 DPCK (dephospho-CoA kinase) domain.
  • In the central section; belongs to the eukaryotic CoaD family.
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.
genes like me logo Genes that share phenotypes with COASY: view

Human Phenotype Ontology for COASY Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for COASY

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
extracellular 5
mitochondrion 5
nucleus 5
cytosol 4
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COASY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with COASY: view

Pathways & Interactions for COASY Gene

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:0009058 biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with COASY: view

No data available for SIGNOR curated interactions for COASY Gene

Drugs & Compounds for COASY Gene

(3) Drugs for COASY Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0
Coenzyme A Nutra 0

(7) Additional Compounds for COASY Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Dephospho-CoA
  • 3'-Dephospho-CoA
  • 3'-Dephospho-Coenzyme A
  • 3'-O-Dephosphono-CoA
  • 3'-O-Dephosphono-Coenzyme A
  • Dephospho-CoA
3633-59-8
Pantetheine 4'-phosphate
  • 4'-Phosphopantetheine
  • 4'-Phosphopantotheine
  • D-Pantetheine 4'-phosphate
  • Pantetheine 4'-phosphate
  • Pantotheine-4'-phosphate
2226-71-3
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with COASY: view

Transcripts for COASY Gene

Unigene Clusters for COASY Gene

CoA synthase:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for COASY Gene

This gene is overexpressed in Salivary gland (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with COASY: view

Protein tissue co-expression partners for COASY Gene

- Elite partner

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia COASY 35
  • 99.27 (n)
  • 99.33 (a)
COASY 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coasy 35
  • 85.71 (n)
  • 86.25 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia COASY 36
  • 53 (a)
OneToOne
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)
Dr.17697 35
coasy 36
  • 52 (a)
OneToOne
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

(1) 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
rs615942 - 42,562,786(-) GGCTG(G/T)ACTGG nc-transcript-variant, reference, missense
VAR_070975 Neurodegeneration with brain iron accumulation 6 (NBIA6)
rs598126 -- 42,564,502(-) TTCTC(C/T)GTATG nc-transcript-variant, reference, synonymous-codon
rs621141 -- 42,560,399(+) AGGCA(C/G)TAAAA upstream-variant-2KB
rs629861 -- 42,561,996(-) GTGAA(G/T)CCTTG upstream-variant-2KB

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

Variation tolerance for COASY Gene

Residual Variation Intolerance Score: 18.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COASY Gene

Human Gene Mutation Database (HGMD)
COASY

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

Disorders for COASY Gene

MalaCards: The human disease database

(4) MalaCards diseases for COASY Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
neurodegeneration with brain iron accumulation 6
  • nbia6
coasy protein-associated neurodegeneration
  • neurodegeneration with brain iron accumulation 6
coasy-associated neurodegeneration
  • neurodegeneration with brain iron accumulation 6
neurodegeneration with brain iron accumulation disorders
  • hallervorden-spatz disease
- elite association - COSMIC cancer census association via MalaCards
Search COASY in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COASY
genes like me logo Genes that share disorders with COASY: view

No data available for Genatlas for COASY Gene

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 67
  2. CoA synthase is in complex with p85alphaPI3K and affects PI3K signaling pathway. (PMID: 19482007) Breus O. … Nemazanyy I. (Biochem. Biophys. Res. Commun. 2009) 3 23
  3. 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
  4. Subcellular localization and regulation of coenzyme A synthase. (PMID: 14514684) Zhyvoloup A. … Gout I.T. (J. Biol. Chem. 2003) 3 23
  5. Molecular cloning of CoA Synthase. The missing link in CoA biosynthesis. (PMID: 11980892) Zhyvoloup A. … Gout I.T. (J. Biol. Chem. 2002) 2 3

Products for COASY Gene

Sources for COASY Gene

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