Human Gene COASY (ENST00000393818.3_12) from GENCODE V47lift37
  Description: Coenzyme A synthase, transcript variant 1 (from RefSeq NM_025233.7)
Gencode Transcript: ENST00000393818.3_12
Gencode Gene: ENSG00000068120.15_19
Transcript (Including UTRs)
   Position: hg19 chr17:40,714,166-40,718,295 Size: 4,130 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr17:40,714,641-40,717,986 Size: 3,346 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:40,714,166-40,718,295)mRNA (may differ from genome)Protein (564 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COASY_HUMAN
DESCRIPTION: RecName: Full=Bifunctional coenzyme A synthase; Short=CoA synthase; AltName: Full=NBP; AltName: Full=POV-2; Includes: RecName: Full=Phosphopantetheine adenylyltransferase; EC=2.7.7.3; AltName: Full=Dephospho-CoA pyrophosphorylase; AltName: Full=Pantetheine-phosphate adenylyltransferase; Short=PPAT; Includes: RecName: Full=Dephospho-CoA kinase; Short=DPCK; EC=2.7.1.24; AltName: Full=Dephosphocoenzyme A kinase; Short=DPCOAK;
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.
CATALYTIC ACTIVITY: ATP + pantetheine 4'-phosphate = diphosphate + 3'-dephospho-CoA.
CATALYTIC ACTIVITY: ATP + 3'-dephospho-CoA = ADP + CoA.
BIOPHYSICOCHEMICAL PROPERTIES: 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);
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.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
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.
SIMILARITY: In the central section; belongs to the eukaryotic coaD family.
SIMILARITY: Contains 1 DPCK (dephospho-CoA kinase) domain.
SEQUENCE CAUTION: Sequence=AAA69699.1; Type=Frameshift; Positions=535; Sequence=AAF87955.1; Type=Erroneous initiation; Sequence=AAH06354.1; Type=Erroneous initiation; Sequence=AAH20985.1; Type=Erroneous initiation; Sequence=AK075415; Type=Frameshift; Positions=315;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: COASY
Diseases sorted by gene-association score: neurodegeneration with brain iron accumulation 6* (1588), coasy-associated neurodegeneration* (500), coasy protein-associated neurodegeneration* (400), neurodegeneration with brain iron accumulation (29), neurodegeneration with brain iron accumulation 4 (7), neurodegeneration with brain iron accumulation 5 (6), infantile neuroaxonal dystrophy 1 (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.32 RPKM in Adrenal Gland
Total median expression: 1088.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -173.50475-0.365 Picture PostScript Text
3' UTR -113.40309-0.367 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004820 - Cytidylyltransf
IPR001977 - Depp_CoAkinase
IPR014729 - Rossmann-like_a/b/a_fold

Pfam Domains:
PF01121 - Dephospho-CoA kinase
PF01467 - Cytidylyltransferase-like

SCOP Domains:
52374 - Nucleotidylyl transferase
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

ModBase Predicted Comparative 3D Structure on Q13057
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
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 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004140 dephospho-CoA kinase activity
GO:0004595 pantetheine-phosphate adenylyltransferase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity

Biological Process:
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0009108 coenzyme biosynthetic process
GO:0015937 coenzyme A biosynthetic process
GO:0016310 phosphorylation

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF209346 - JP 2014500723-A/16849: Polycomb-Associated Non-Coding RNAs.
AY094602 - Homo sapiens bifunctional phosphopantetheine adenylyl transferase / dephospho CoA kinase (PPAT) mRNA, complete cds.
JD409710 - Sequence 390734 from Patent EP1572962.
AK225485 - Homo sapiens mRNA for Bifunctional coenzyme A synthase variant, clone: JTH01050.
AK303766 - Homo sapiens cDNA FLJ54225 complete cds, moderately similar to Bifunctional coenzyme A synthase.
AK314076 - Homo sapiens cDNA, FLJ94747, highly similar to Homo sapiens bifunctional phosphopantetheine adenylyltransferase/dephospho CoA kinase (DPCK), mRNA.
AK297153 - Homo sapiens cDNA FLJ56463 complete cds, highly similar to Bifunctional coenzyme A synthase.
AL833588 - Homo sapiens mRNA; cDNA DKFZp686D1964 (from clone DKFZp686D1964).
AK075415 - Homo sapiens cDNA PSEC0106 fis, clone NT2RP2005219.
AL360168 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 310914.
BC067254 - Homo sapiens Coenzyme A synthase, mRNA (cDNA clone MGC:74579 IMAGE:6502943), complete cds.
JD021213 - Sequence 2237 from Patent EP1572962.
JD024036 - Sequence 5060 from Patent EP1572962.
JD031816 - Sequence 12840 from Patent EP1572962.
L77575 - Homo sapiens (clone SEL10) 17q YAC (26F3) RNA.
AB590851 - Synthetic construct DNA, clone: pFN21AE2016, Homo sapiens COASY gene for Coenzyme A synthase, without stop codon, in Flexi system.
L77574 - Homo sapiens (clone SEL6) 17q YAC RNA.
KJ899641 - Synthetic construct Homo sapiens clone ccsbBroadEn_09035 COASY gene, encodes complete protein.
KJ905553 - Synthetic construct Homo sapiens clone ccsbBroadEn_15169 COASY gene, encodes complete protein.
CU688260 - Synthetic construct Homo sapiens gateway clone IMAGE:100022831 5' read COASY mRNA.
AF453478 - Homo sapiens phosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase mRNA, complete cds.
JD023148 - Sequence 4172 from Patent EP1572962.
JD029421 - Sequence 10445 from Patent EP1572962.
LF327882 - JP 2014500723-A/135385: Polycomb-Associated Non-Coding RNAs.
BC020985 - Homo sapiens Coenzyme A synthase, mRNA (cDNA clone IMAGE:3851867), complete cds.
AL360167 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 30941.
AF208536 - Homo sapiens nucleotide binding protein (NBP) mRNA, complete cds.
AK092498 - Homo sapiens cDNA FLJ35179 fis, clone PLACE6014064, highly similar to Homo sapiens nucleotide binding protein (NBP) mRNA.
AX747572 - Sequence 1097 from Patent EP1308459.
BC006354 - Homo sapiens Coenzyme A synthase, mRNA (cDNA clone IMAGE:4123850), complete cds.
KJ894820 - Synthetic construct Homo sapiens clone ccsbBroadEn_04214 COASY gene, encodes complete protein.
CU676800 - Synthetic construct Homo sapiens gateway clone IMAGE:100018680 5' read COASY mRNA.
U18919 - Human chromosome 17q12-21 mRNA, clone pOV-2, partial cds.
JF432607 - Synthetic construct Homo sapiens clone IMAGE:100073844 Coenzyme A synthase (COASY) gene, encodes complete protein.
KJ903304 - Synthetic construct Homo sapiens clone ccsbBroadEn_12698 COASY gene, encodes complete protein.
BT007168 - Homo sapiens nucleotide binding protein mRNA, complete cds.
LF327883 - JP 2014500723-A/135386: Polycomb-Associated Non-Coding RNAs.
LF327884 - JP 2014500723-A/135387: Polycomb-Associated Non-Coding RNAs.
JD376193 - Sequence 357217 from Patent EP1572962.
JD456861 - Sequence 437885 from Patent EP1572962.
JD369019 - Sequence 350043 from Patent EP1572962.
JD226523 - Sequence 207547 from Patent EP1572962.
MA563459 - JP 2018138019-A/135385: Polycomb-Associated Non-Coding RNAs.
MA563460 - JP 2018138019-A/135386: Polycomb-Associated Non-Coding RNAs.
MA563461 - JP 2018138019-A/135387: Polycomb-Associated Non-Coding RNAs.
MA444923 - JP 2018138019-A/16849: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
COA-PWY-1 - coenzyme A biosynthesis
PWY-7851 - coenzyme A biosynthesis II (eukaryotic)

Reactome (by CSHL, EBI, and GO)

Protein Q13057 (Reactome details) participates in the following event(s):

R-HSA-196773 COASY phosphorylates DP-CoA
R-HSA-196754 COASY transfers an adenylyl group from ATP to PPANT
R-HSA-196783 Coenzyme A biosynthesis
R-HSA-199220 Vitamin B5 (pantothenate) metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2RA78, B4DLU0, COASY , COASY_HUMAN, ENST00000393818.1, ENST00000393818.2, NM_025233, PSEC0106, Q13057, Q6GS23, Q8NBM7, Q8NEW1, Q8WXD4, Q9NRM3, uc318wdw.1, uc318wdw.2
UCSC ID: ENST00000393818.3_12
RefSeq Accession: NM_025233.7
Protein: Q13057 (aka COASY_HUMAN or COAS_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COASY:
nbia-ov (Neurodegeneration with Brain Iron Accumulation Disorders Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.