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COASY Coenzyme A synthase [ Homo sapiens (human) ]

Gene ID: 80347, updated on 14-Nov-2024

Summary

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Official Symbol
COASYprovided by HGNC
Official Full Name
Coenzyme A synthaseprovided by HGNC
Primary source
HGNC:HGNC:29932
See related
Ensembl:ENSG00000068120 MIM:609855; AllianceGenome:HGNC:29932
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NBP; DPCK; PPAT; UKR1; NBIA6; PCH12; pOV-2
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 20.2), duodenum (RPKM 19.7) and 25 other tissues See more
Orthologs
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Genomic context

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See COASY in Genome Data Viewer
Location:
17q21.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42562148..42566277)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43419336..43423465)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40714166..40718295)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12205 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 Neighboring gene HSD17B1 promoter Neighboring gene HSD17B1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40706585-40707152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40707968-40708515 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40717370-40717876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40717877-40718383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40719397-40719904 Neighboring gene MAX dimerization protein MLX Neighboring gene PSMC3 interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12210 Neighboring gene reticulophagy regulator family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12211

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
    Title: Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
  2. Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
    Title: Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
  3. COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
    Title: COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
  4. CoAsy knockdown in TNBC cell lines resulted in no overt effect on cell proliferation in vitro.
    Title: CoAsy knockdown in TNBC cell lines resulted in no overt effect on cell proliferation in vitro.
  5. Study identified a novel biomarker, coenzyme A synthase (COASY), whose mRNA expression was consistently elevated in radioresistant human rectal cancers. This observation was validated in independent patient cohorts and further confirmed in colorectal cancer cell lines. COASY protein directly interacted with the PI3K regulatory subunit PI3K-P85alpha, which increased AKT and mTOR phosphorylation, enhancing cell survival.
    Title: CoA Synthase (COASY) Mediates Radiation Resistance via PI3K Signaling in Rectal Cancer.
  6. Loss of function variants in COASY are associated with lethal pontocerebellar hypoplasia and arthrogryposis.
    Title: Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.
  7. The recruitment of COASY inhibits CBP-mediated TPX2 acetylation, promoting TPX2 degradation for mitotic exit.
    Title: CoA synthase regulates mitotic fidelity via CBP-mediated acetylation.
  8. The COASY protein contains a mitochondrial localization signal, a regulatory region and a domain for each of the two catalytic kinase domains: adenyl transferase and dephospho CoA
    Title: Mutational analysis of COASY in an Italian patient with NBIA.
  9. DNA methylation levels in the COASY and SPINT1 promoter regions were considered to potentially be a convenient and useful biomarker for diagnosis of Alzheimer's Disease and Amnestic Mild Cognitive Impairment.
    Title: Usefulness of DNA Methylation Levels in COASY and SPINT1 Gene Promoter Regions as Biomarkers in Diagnosis of Alzheimer's Disease and Amnestic Mild Cognitive Impairment.
  10. Mutations in PANK2 and CoASY lead, respectively, to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN
    Title: Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of CoA synthase (COASY) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ35179

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables dephospho-CoA kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dephospho-CoA kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables dephospho-CoA kinase activity TAS
Traceable Author Statement
more info
  
enables pantetheine-phosphate adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pantetheine-phosphate adenylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pantetheine-phosphate adenylyltransferase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in coenzyme A biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in coenzyme A biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in coenzyme A biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in coenzyme A biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in purine nucleoside bisphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in purine ribonucleotide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in ribonucleoside bisphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
bifunctional coenzyme A synthase
Names
CoA synthase
bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase
nucleotide binding protein
phosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase
NP_001035994.1
NP_001035997.2
NP_079509.5
XP_006722179.1
XP_011523602.1
XP_047292805.1
XP_047292806.1
XP_054173386.1
XP_054173387.1
XP_054173388.1
XP_054173389.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034110.1 RefSeqGene

    Range
    5075..9204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042529.3 → NP_001035994.1  bifunctional coenzyme A synthase isoform a precursor

    See identical proteins and their annotated locations for NP_001035994.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a, also known as CoASy alpha).
    Source sequence(s)
    AK225485, AY094602, DA786254
    Consensus CDS
    CCDS11429.1
    UniProtKB/Swiss-Prot
    B2RA78, B4DLU0, Q13057, Q6GS23, Q8NBM7, Q8NEW1, Q8WXD4, Q9NRM3
    Related
    ENSP00000393564.2, ENST00000421097.6
    Conserved Domains (2) summary
    cd02164
    Location:193 → 339
    PPAT_CoAS; phosphopantetheine adenylyltransferase domain of eukaryotic and archaeal bifunctional enzymes
    cd02022
    Location:360 → 536
    DPCK; Dephospho-coenzyme A kinase (DPCK, EC 2.7.1.24) catalyzes the phosphorylation of dephosphocoenzyme A (dCoA) to yield CoA, which is the final step in CoA biosynthesis.

  2. NM_001042532.4 → NP_001035997.2  bifunctional coenzyme A synthase isoform c

    See identical proteins and their annotated locations for NP_001035997.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and contains an additional segment in the 5' coding region, compared to variant 1. The resulting isoform (c, also known as CoASy beta) is longer at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK297153, AK314076, BC020985, DA786254
    Consensus CDS
    CCDS45685.1
    UniProtKB/Swiss-Prot
    Q13057
    Related
    ENSP00000464814.1, ENST00000590958.5
    Conserved Domains (3) summary
    cd02164
    Location:222 → 368
    PPAT_CoAS; phosphopantetheine adenylyltransferase domain of eukaryotic and archaeal bifunctional enzymes
    COG0237
    Location:388 → 588
    CoaE; Dephospho-CoA kinase [Coenzyme transport and metabolism]
    cd02022
    Location:389 → 565
    DPCK; Dephospho-coenzyme A kinase (DPCK, EC 2.7.1.24) catalyzes the phosphorylation of dephosphocoenzyme A (dCoA) to yield CoA, which is the final step in CoA biosynthesis.

  3. NM_025233.7 → NP_079509.5  bifunctional coenzyme A synthase isoform a precursor

    See identical proteins and their annotated locations for NP_079509.5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a (also known as CoASy alpha). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK075415, BC020985, BM781531, DA786254
    Consensus CDS
    CCDS11429.1
    UniProtKB/Swiss-Prot
    B2RA78, B4DLU0, Q13057, Q6GS23, Q8NBM7, Q8NEW1, Q8WXD4, Q9NRM3
    Related
    ENSP00000377406.1, ENST00000393818.3
    Conserved Domains (2) summary
    cd02164
    Location:193 → 339
    PPAT_CoAS; phosphopantetheine adenylyltransferase domain of eukaryotic and archaeal bifunctional enzymes
    cd02022
    Location:360 → 536
    DPCK; Dephospho-coenzyme A kinase (DPCK, EC 2.7.1.24) catalyzes the phosphorylation of dephosphocoenzyme A (dCoA) to yield CoA, which is the final step in CoA biosynthesis.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42562148..42566277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525300.2 → XP_011523602.1  bifunctional coenzyme A synthase isoform X1

    See identical proteins and their annotated locations for XP_011523602.1

    UniProtKB/Swiss-Prot
    B2RA78, B4DLU0, Q13057, Q6GS23, Q8NBM7, Q8NEW1, Q8WXD4, Q9NRM3
    Conserved Domains (2) summary
    cd02164
    Location:193 → 339
    PPAT_CoAS; phosphopantetheine adenylyltransferase domain of eukaryotic and archaeal bifunctional enzymes
    cd02022
    Location:360 → 536
    DPCK; Dephospho-coenzyme A kinase (DPCK, EC 2.7.1.24) catalyzes the phosphorylation of dephosphocoenzyme A (dCoA) to yield CoA, which is the final step in CoA biosynthesis.

  2. XM_047436849.1 → XP_047292805.1  bifunctional coenzyme A synthase isoform X2

  3. XM_047436850.1 → XP_047292806.1  bifunctional coenzyme A synthase isoform X3

  4. XM_006722116.5 → XP_006722179.1  bifunctional coenzyme A synthase isoform X4

    See identical proteins and their annotated locations for XP_006722179.1

    UniProtKB/Swiss-Prot
    Q13057
    Conserved Domains (3) summary
    cd02164
    Location:222 → 368
    PPAT_CoAS; phosphopantetheine adenylyltransferase domain of eukaryotic and archaeal bifunctional enzymes
    COG0237
    Location:388 → 588
    CoaE; Dephospho-CoA kinase [Coenzyme transport and metabolism]
    cd02022
    Location:389 → 565
    DPCK; Dephospho-coenzyme A kinase (DPCK, EC 2.7.1.24) catalyzes the phosphorylation of dephosphocoenzyme A (dCoA) to yield CoA, which is the final step in CoA biosynthesis.

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43419336..43423465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317411.1 → XP_054173386.1  bifunctional coenzyme A synthase isoform X1

    UniProtKB/Swiss-Prot
    B2RA78, B4DLU0, Q13057, Q6GS23, Q8NBM7, Q8NEW1, Q8WXD4, Q9NRM3

  2. XM_054317412.1 → XP_054173387.1  bifunctional coenzyme A synthase isoform X2

  3. XM_054317413.1 → XP_054173388.1  bifunctional coenzyme A synthase isoform X3

  4. XM_054317414.1 → XP_054173389.1  bifunctional coenzyme A synthase isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001042530.1: Suppressed sequence

    Description
    NM_001042530.1: This RefSeq was permanently suppressed because currently there is insufficient support for the full-length nature of the transcript.

  2. NM_001042531.1: Suppressed sequence

    Description
    NM_001042531.1: This RefSeq was permanently suppressed because currently there is insufficient support for the protein, and the full-length nature of this transcript variant is unknown.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13057.4 GenPept UniProtKB/Swiss-Prot:Q13057

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