COASY - Coenzyme A synthase Gene

Homo sapiens

Also known as NBP; DPCK; PPAT; UKR1; NBIA6; PCH12; pOV-2

Gene ID: 80347 | Gene type: protein coding

About COASY

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,562,148-42,566,277 (from NCBI)

This gene has 14 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 20.2), duodenum (RPKM 19.7) and 25 other tissues.

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]

COASY Products(3)

mRNA	Protein	Name
NM_001042529.3	NP_001035994.1	bifunctional coenzyme A synthase isoform a precursor
NM_001042532.4	NP_001035997.2	bifunctional coenzyme A synthase isoform c
NM_025233.7	NP_079509.5	bifunctional coenzyme A synthase isoform a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables dephospho-CoA kinase activity	IDA IDA: Inferred from direct assay	11923312	GOA
enables pantetheine-phosphate adenylyltransferase activity	IDA IDA: Inferred from direct assay	11923312	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22982864	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in coenzyme A biosynthetic process	IDA IDA: Inferred from direct assay	11923312	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	24360804	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COASY Protein Structure

CTP_transf_like

CoaE

0
100
200
300
400
500
564 a.a.

Protein Preferred Names

Protein Names

bifunctional coenzyme A synthase

CoA synthase

Recombinant COASY Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76843	COASY Protein, Human (His)	Q13057-1 (M296-D564)	≥95%

Related Diseases

Diseases

Alias

Neurodegeneration With Brain Iron Accumulation 6

NBIA6	Copan
Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation	Coasy Protein-Associated Neurodegeneration
Neurodegeneration, With Brain Iron Accumulation, Type 6

Pontocerebellar Hypoplasia, Type 12

PCH12	Pontocerebellar Hypoplasia Type 12
Coasy-Related Pontocerebellar Hypoplasia	Pontocerebellar Hypoplasia 12
Doid:0112327	Hypoplasia, Pontocerebellar, Type 12

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Hereditary Spastic Paraplegia 35

Autosomal Recessive Spastic Paraplegia Type 35	Spg35
Autosomal Recessive Spastic Paraplegia 35	Fahn
Fatty Acid Hydroxylase-Associated Neurodegeneration	Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Neurodegeneration With Brain Iron Accumulation 2a

Infantile Neuroaxonal Dystrophy	Plan
Seitelberger Disease	Inad
Infantile Neuroaxonal Dystrophy 1	Inad1
Pla2g6-Associated Neurodegeneration	NBIA2A
Neuroaxonal Dystrophy, Infantile	Neurodegeneration, Pla2g6-Associated
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	Phospholipase A2-Associated Neurodegeneration
Nbia2	Pla2g6-Related Disorders
Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy	Karak Syndrome, Included
Nbia2b	Neuroaxonal Dystrophy, Atypical
Neurodegeneration With Brain Iron Accumulation 2b	Nbia, Pla2g6-Related
Seitelberger'S Disease	Neurodegeneration Pla2g6-Associated
Dystrophy, Neuroaxonal, Infantile	Neurodegeneration, With Brain Iron Accumulation, Type 2a
Neuroaxonal Dystrophies	Neurodegeneration With Brain Iron Accumulation 2

Neurodegeneration With Brain Iron Accumulation 1

Pantothenate Kinase-Associated Neurodegeneration	Pkan
NBIA1	Hallervorden-Spatz Disease
Hallervorden-Spatz Syndrome	Pigmentary Pallidal Degeneration
Neuroaxonal Dystrophy, Late Infantile	Neurodegeneration With Brain Iron Accumulation Type 1
Classic Pantothenate Kinase-Associated Neurodegeneration	Pkan Neuroaxonal Dystrophy, Juvenile-Onset
Brain Iron Accumulation Type I Syndrome	Nbia
Neurodegeneration With Brain Iron Accumulation	Nbia1, Classic Form
Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form	Pkan, Classic Form
Atypical Pantothenate Kinase-Associated Neurodegeneration	Nbia1, Atypical Form
Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form	Pkan, Atypical Form
Hss	Pkan Neuroaxonal Dystrophy Juvenile-Onset
Neurodegeneration, With Brain Iron Accumulation, Type 1

Neurodegeneration With Brain Iron Accumulation 3

Neuroferritinopathy	NBIA3
Ferritin-Related Neurodegeneration	Hereditary Ferritinopathy
Basal Ganglia Disease, Adult-Onset	Adult Basal Ganglia Disease
Neuroferritinopathy	Basal Ganglia Disease, Adult-Onset
Basal Ganglia Disease Adult-Onset	Adult-Onset Basal Ganglia Disease
Neurodegeneration, With Brain Iron Accumulation, Type 3

Neurodegeneration With Brain Iron Accumulation 5

NBIA5	Beta-Propeller Protein-Associated Neurodegeneration
Bpan	Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Senda	Neurodegeneration With Brain Iron Accumulation Type 5
Neurodegeneration With Brain Iron Accululation 5	Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood
Neurodegeneration, With Brain Iron Accululation, Type 5

Neurodegeneration With Brain Iron Accumulation 2b

NBIA2B	Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Neuroaxonal Dystrophy, Atypical	Karak Syndrome
Atypical Neuroaxonal Dystrophy	Neurodegeneration With Brain Iron Accumulation Pla2g6-Related
Neurodegeneration, With Brain Iron Accumulation, Type 2b	Neurodegeneration With Brain Iron Accumulation 2

Kufor-Rakeb Syndrome

Park9	Krppd
KRS	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
Autosomal Recessive Parkinson Disease 9	Parkinson Disease 9
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset	Autosomal Recessive Juvenile Onset Parkinson Disease 9
Parkinson Disease Type 9	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia
Park 9	Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Cln12 Disease	Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis
Parkinson Disease Autosomal Recessive 9

Mitochondrial Dna Depletion Syndrome 5

Succinate-Coa Ligase Deficiency	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
MTDPS5	Booth-Haworth-Dilling Syndrome
Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic	Mitochondrial Dna Depletion Syndrome-5
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive	Mitochondrial Encephalomyopathy Aminoacidopathy
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria
Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria	Succinate-Coenzyme A Ligase Deficiency
Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome	Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria
Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive	Mitochondrial Dna Depletion Syndrome, Type 5

Oromandibular Dystonia

Neuroaxonal Dystrophy

Neuroaxonal Dystrophies

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome	Mngie Syndrome
Thymidine Phosphorylase Deficiency	MTDPS4B
Mitochondrial Neurogastrointestinal Encephalopathy Disease	Mngie
Myoneurogastrointestinal Encephalopathy Syndrome	Ogimd
Oculogastrointestinal Muscular Dystrophy	Polip
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
Mngie, Polg-Related	Mepop
Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction	Mngie Disease
Mitochondrial Dna Depletion Syndrome 4b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
Mngie Polg-Related	Mitochondrial Dna Depletion Syndrome, Type 4b
Visceral Myopathy Familial External Ophthalmoplegia

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02946	COASY Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COASY	VGNC	VGNC:50148
Mus musculus	COASY	MGD	MGI:1918993
Macaca mulatta	COASY	VGNC	VGNC:81373
Canis familiaris	COASY	VGNC	VGNC:51942
Rattus norvegicus	COASY	RGD	RGD:1549767
Felis catus	COASY	VGNC	VGNC:98887
Others	COASY	NCBI

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