Free for academic non-profit institutions. Other users need a Commercial license

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
  • Bifunctional Coenzyme A Synthase 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-Associated Neurodegeneration. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Pantothenate and CoA biosynthesis. 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 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
- Elite enhancer/Elite enhancer-gene association

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

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.

Gene Ontology (GO) - Molecular Function for COASY Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for COASY

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005759 mitochondrial matrix IDA 24360804
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:0009108 coenzyme biosynthetic process TAS --
GO:0015937 coenzyme A biosynthetic process TAS 11994049
GO:0016310 phosphorylation IEA --
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
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 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
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for COASY

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

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, MaxQB, and MOPED for COASY Gene



Protein tissue co-expression partners for COASY Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COASY Gene:

COASY

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

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 34
  • 89.67 (n)
  • 91.53 (a)
COASY 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COASY 34
  • 89.33 (n)
  • 91.3 (a)
COASY 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coasy 34
  • 85.54 (n)
  • 87.5 (a)
Coasy 16
Coasy 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COASY 34
  • 99.27 (n)
  • 99.33 (a)
COASY 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coasy 34
  • 85.71 (n)
  • 86.25 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia COASY 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves COASY 35
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COASY 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coasy 34
  • 62.65 (n)
  • 61.67 (a)
zebrafish
(Danio rerio)
Actinopterygii coasy 34
  • 57.43 (n)
  • 53.39 (a)
Dr.17697 34
coasy 35
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005460 34
  • 54.48 (n)
  • 47.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ppat-Dpck 34
  • 50.52 (n)
  • 40.59 (a)
Ppat-Dpck 35
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y65B4A.8 34
  • 47.39 (n)
  • 39.46 (a)
Y65B4A.8 35
  • 38 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB4 35
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons COAD 34
  • 48.03 (n)
  • 38.16 (a)
rice
(Oryza sativa)
Liliopsida Os07g0179400 34
  • 49.16 (n)
  • 40.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
Species where no ortholog for COASY was found in the sources mined by GeneCards:
  • 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
esv33998 OTHER inversion 15654335
nsv1064012 CNV gain 25217958
nsv1146669 OTHER inversion 26484159

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neurodegeneration with brain iron accumulation 6
  • coasy protein-associated neurodegeneration
coasy-associated neurodegeneration
  • neurodegeneration with brain iron accumulation 6
neurodegeneration with brain iron accumulation disorders
  • nbia
neurodegeneration with brain iron accumulation 1
  • pantothenate kinase-associated neurodegeneration
- 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 65
  2. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. (PMID: 24360804) Dusi S. … Tiranti V. (Am. J. Hum. Genet. 2014) 3 4 65
  3. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 46 65
  4. CoA synthase is in complex with p85alphaPI3K and affects PI3K signaling pathway. (PMID: 19482007) Breus O. … Nemazanyy I. (Biochem. Biophys. Res. Commun. 2009) 3 22 65
  5. Possible difference in frequencies of genetic polymorphisms of estrogen receptor alpha, estrogen metabolism and P53 genes between estrogen receptor-positive and -negative breast cancers. (PMID: 18820009) Hamaguchi M. … Yamashita H. (Jpn. J. Clin. Oncol. 2008) 3 46 65

Products for COASY Gene

Sources for COASY Gene

Content