1. Gene
  2. COASY - Coenzyme A synthase Gene

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

COASY Protein Structure

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (196 - 339)

CoaE

CoaE: Dephospho-CoA kinase (359 - 533)

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  • 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

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