COASY Coenzyme A synthase [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Neurodegeneration with brain iron accumulation 6 MedGen: C4517377 OMIM: 615643 GeneReviews: Neurodegeneration with Brain Iron Accumulation Disorders Overview	Compare labs
Pontocerebellar hypoplasia, type 12 MedGen: C4748873 OMIM: 618266 GeneReviews: Neurodegeneration with Brain Iron Accumulation Disorders Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

RH71206 (e-PCR)
- UniSTS:50433

RH67830 (e-PCR)
- UniSTS:5442

SHGC-13493 (e-PCR)
- UniSTS:8066

WI-20188 (e-PCR)
- UniSTS:8067

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 more info	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 more info	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

EC 2.7.1.24

EC 2.7.7.3

NP_001035997.2

EC 2.7.1.24

EC 2.7.7.3

NP_079509.5

EC 2.7.1.24

EC 2.7.7.3

XP_006722179.1

EC 2.7.1.24

EC 2.7.7.3

XP_011523602.1

EC 2.7.1.24

EC 2.7.7.3

XP_047292805.1

EC 2.7.1.24

EC 2.7.7.3

XP_047292806.1

EC 2.7.1.24

EC 2.7.7.3

XP_054173386.1

EC 2.7.1.24

EC 2.7.7.3

XP_054173387.1

EC 2.7.1.24

EC 2.7.7.3

XP_054173388.1

EC 2.7.1.24

EC 2.7.7.3

XP_054173389.1

EC 2.7.1.24

EC 2.7.7.3

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

NG_034110.1 RefSeqGene

Range

5075..9204

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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.
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.
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

42562148..42566277

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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.
XM_047436849.1 → XP_047292805.1 bifunctional coenzyme A synthase isoform X2
XM_047436850.1 → XP_047292806.1 bifunctional coenzyme A synthase isoform X3
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

NC_060941.1 Alternate T2T-CHM13v2.0

Range

43419336..43423465

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RA78, B4DLU0, Q13057, Q6GS23, Q8NBM7, Q8NEW1, Q8WXD4, Q9NRM3
XM_054317412.1 → XP_054173387.1 bifunctional coenzyme A synthase isoform X2
XM_054317413.1 → XP_054173388.1 bifunctional coenzyme A synthase isoform X3
XM_054317414.1 → XP_054173389.1 bifunctional coenzyme A synthase isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.