COASY - Coenzyme A synthase Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80347

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	References	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	References	Source
involved in coenzyme A biosynthetic process	IDA IDA: Inferred from direct assay	11923312	GOA

Cellular Component GO Annotation	Evidence	References	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

COASY Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COASY	Q13057	EDC4	Homo sapiens	Q6P2E9	Anti Bait CoIP	22982864
Intra	COASY	Q13057	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant COASY Proteins

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

COASY Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86817	COASY Antibody (YA6510)	WB, ICC/IF, FC	Human

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02946	COASY Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-180877	COASY modulator-1		/	Unkown
HY-RS18993	Coasy Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25482	Coasy Rat Pre-designed siRNA Set A	Pre-designed Set	/	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