UniProtKB - Q13057 (COASY_HUMAN)
Protein
Bifunctional coenzyme A synthase
Gene
COASY
Organism
Homo sapiens (Human)
Status
Functioni
Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation.2 Publications
Catalytic activityi
Kineticsi
- KM=7.6 mM for 4'-phosphopantetheine
- KM=145 mM for ATP (in the PPAT reaction)
- KM=16.7 mM for dephospho-CoA
- KM=34.4 mM for ATP (in the DPCK reaction)
: coenzyme A biosynthesis Pathwayi
This protein is involved in step 4 and 5 of the subpathway that synthesizes CoA from (R)-pantothenate.Proteins known to be involved in the 5 steps of the subpathway in this organism are:
- Pantothenate kinase 1 (PANK1), Pantothenate kinase 3 (PANK3), Pantothenate kinase 2, mitochondrial (PANK2)
- Phosphopantothenate--cysteine ligase (PPCS)
- Phosphopantothenoylcysteine decarboxylase (PPCDC)
- Bifunctional coenzyme A synthase (COASY)
- Bifunctional coenzyme A synthase (COASY)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes CoA from (R)-pantothenate, the pathway coenzyme A biosynthesis and in Cofactor biosynthesis.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 365 – 372 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- dephospho-CoA kinase activity Source: UniProtKB
- pantetheine-phosphate adenylyltransferase activity Source: UniProtKB
GO - Biological processi
- coenzyme A biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Kinase, Multifunctional enzyme, Nucleotidyltransferase, Transferase |
Biological process | Coenzyme A biosynthesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BioCyci | MetaCyc:HS00931-MONOMER |
BRENDAi | 2.7.1.24, 2681 2.7.7.3, 2681 |
PathwayCommonsi | Q13057 |
Reactomei | R-HSA-196783, Coenzyme A biosynthesis |
SABIO-RKi | Q13057 |
UniPathwayi | UPA00241;UER00355 UPA00241;UER00356 |
Names & Taxonomyi
Protein namesi | Recommended name: Bifunctional coenzyme A synthaseShort name: CoA synthase Alternative name(s): NBP POV-2 Including the following 2 domains: |
Gene namesi | Name:COASY ORF Names:PSEC0106 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000068120.14 |
HGNCi | HGNC:29932, COASY |
MIMi | 609855, gene |
neXtProti | NX_Q13057 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix 1 Publication
Other locations
- Cytoplasm 1 Publication
Note: The protein is mainly present in the mitochondrial matrix, probably anchored to the inner mitochondrial membrane, but is also present in cell lysate.1 Publication
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- mitochondrial matrix Source: UniProtKB
- mitochondrial outer membrane Source: Reactome
Keywords - Cellular componenti
Cytoplasm, MitochondrionPathology & Biotechi
Involvement in diseasei
Neurodegeneration with brain iron accumulation 6 (NBIA6)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082222 | 59 – 564 | Missing in NBIA6; reduced protein abundance. 1 PublicationAdd BLAST | 506 | |
Natural variantiVAR_082223 | 214 | A → V in NBIA6; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_070975 | 499 | R → C in NBIA6; reduced protein abundance; loss of dephospho-CoA kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs140709867EnsemblClinVar. | 1 |
Pontocerebellar hypoplasia 12 (PCH12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH12 is an autosomal recessive form characterized by onset in utero and death in infancy. Brain imaging shows microcephaly, cerebellar hypoplasia, micrognathia, and multiple contractures.
Related information in OMIMKeywords - Diseasei
Disease mutation, NeurodegenerationOrganism-specific databases
DisGeNETi | 80347 |
MalaCardsi | COASY |
MIMi | 615643, phenotype 618266, phenotype |
OpenTargetsi | ENSG00000068120 |
Orphaneti | 397725, COASY protein-associated neurodegeneration |
PharmGKBi | PA134867942 |
Miscellaneous databases
Pharosi | Q13057, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4105867 |
Polymorphism and mutation databases
BioMutai | COASY |
DMDMi | 32363505 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000173039 | 1 – 564 | Bifunctional coenzyme A synthaseAdd BLAST | 564 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 178 | PhosphoserineCombined sources | 1 | |
Modified residuei | 183 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q13057 |
jPOSTi | Q13057 |
MassIVEi | Q13057 |
MaxQBi | Q13057 |
PaxDbi | Q13057 |
PeptideAtlasi | Q13057 |
PRIDEi | Q13057 |
ProteomicsDBi | 59124 [Q13057-1] 59125 [Q13057-2] |
PTM databases
iPTMneti | Q13057 |
PhosphoSitePlusi | Q13057 |
Expressioni
Tissue specificityi
Expressed in all tissues examined including brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocyte. Lowest expression in peripheral blood leukocytes and highest in kidney and liver. Isoform 2 is expressed mainly in the brain.1 Publication
Gene expression databases
Bgeei | ENSG00000068120, Expressed in body of stomach and 229 other tissues |
ExpressionAtlasi | Q13057, baseline and differential |
Genevisiblei | Q13057, HS |
Organism-specific databases
HPAi | ENSG00000068120, Low tissue specificity |
Interactioni
Subunit structurei
Monomer.
1 PublicationBinary interactionsi
Hide detailsQ13057
With | #Exp. | IntAct |
---|---|---|
EDC4 [Q6P2E9] | 3 | EBI-745967,EBI-1006038 |
Isoform 2 [Q13057-2]
With | #Exp. | IntAct |
---|---|---|
CNTROB [Q8N137] | 3 | EBI-10227704,EBI-947360 |
KIAA1958 [Q8N8K9] | 3 | EBI-10227704,EBI-10181113 |
Protein-protein interaction databases
BioGRIDi | 123254, 46 interactors |
IntActi | Q13057, 19 interactors |
MINTi | Q13057 |
STRINGi | 9606.ENSP00000464814 |
Chemistry databases
BindingDBi | Q13057 |
Miscellaneous databases
RNActi | Q13057, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 360 – 563 | DPCKAdd BLAST | 204 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 180 – 358 | Phosphopantetheine adenylyltransferaseAdd BLAST | 179 |
Sequence similaritiesi
In the central section; belongs to the eukaryotic CoaD family.Curated
Phylogenomic databases
eggNOGi | KOG3220, Eukaryota KOG3351, Eukaryota |
GeneTreei | ENSGT00550000075078 |
HOGENOMi | CLU_027827_1_0_1 |
InParanoidi | Q13057 |
OMAi | VIDCDKV |
OrthoDBi | 1543581at2759 |
PhylomeDBi | Q13057 |
Family and domain databases
Gene3Di | 3.40.50.620, 1 hit |
HAMAPi | MF_00376, Dephospho_CoA_kinase, 1 hit |
InterProi | View protein in InterPro IPR004821, Cyt_trans-like IPR001977, Depp_CoAkinase IPR027417, P-loop_NTPase IPR014729, Rossmann-like_a/b/a_fold |
Pfami | View protein in Pfam PF01121, CoaE, 1 hit PF01467, CTP_transf_like, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR00152, TIGR00152, 1 hit |
PROSITEi | View protein in PROSITE PS51219, DPCK, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q13057-1) [UniParc]FASTAAdd to basket
Also known as: CoASy alpha
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAVFRSGLLV LTTPLASLAP RLASILTSAA RLVNHTLYVH LQPGMSLEGP
60 70 80 90 100
AQPQSSPVQA TFEVLDFITH LYAGADVHRH LDVRILLTNI RTKSTFLPPL
110 120 130 140 150
PTSVQNLAHP PEVVLTDFQT LDGSQYNPVK QQLVRYATSC YSCCPRLASV
160 170 180 190 200
LLYSDYGIGE VPVEPLDVPL PSTIRPASPV AGSPKQPVRG YYRGAVGGTF
210 220 230 240 250
DRLHNAHKVL LSVACILAQE QLVVGVADKD LLKSKLLPEL LQPYTERVEH
260 270 280 290 300
LSEFLVDIKP SLTFDVIPLL DPYGPAGSDP SLEFLVVSEE TYRGGMAINR
310 320 330 340 350
FRLENDLEEL ALYQIQLLKD LRHTENEEDK VSSSSFRQRM LGNLLRPPYE
360 370 380 390 400
RPELPTCLYV IGLTGISGSG KSSIAQRLKG LGAFVIDSDH LGHRAYAPGG
410 420 430 440 450
PAYQPVVEAF GTDILHKDGI INRKVLGSRV FGNKKQLKIL TDIMWPIIAK
460 470 480 490 500
LAREEMDRAV AEGKRVCVID AAVLLEAGWQ NLVHEVWTAV IPETEAVRRI
510 520 530 540 550
VERDGLSEAA AQSRLQSQMS GQQLVEQSHV VLSTLWEPHI TQRQVEKAWA
560
LLQKRIPKTH QALD
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EQ60 | K7EQ60_HUMAN | Bifunctional coenzyme A synthase | COASY | 115 | Annotation score: | ||
K7EN91 | K7EN91_HUMAN | Bifunctional coenzyme A synthase | COASY | 219 | Annotation score: | ||
K7ES73 | K7ES73_HUMAN | Bifunctional coenzyme A synthase | COASY | 147 | Annotation score: | ||
K7EP09 | K7EP09_HUMAN | Bifunctional coenzyme A synthase | COASY | 90 | Annotation score: | ||
K7EPC2 | K7EPC2_HUMAN | Bifunctional coenzyme A synthase | COASY | 96 | Annotation score: | ||
K7EPT0 | K7EPT0_HUMAN | Bifunctional coenzyme A synthase | COASY | 98 | Annotation score: | ||
K7ESK6 | K7ESK6_HUMAN | Bifunctional coenzyme A synthase | COASY | 128 | Annotation score: |
Sequence cautioni
The sequence AAA69699 differs from that shown. Reason: Frameshift.Curated
The sequence AAF87955 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH06354 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH20985 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AK075415 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 41 | L → P in BAG36775 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030299 | 55 | S → Y4 PublicationsCorresponds to variant dbSNP:rs615942EnsemblClinVar. | 1 | |
Natural variantiVAR_082222 | 59 – 564 | Missing in NBIA6; reduced protein abundance. 1 PublicationAdd BLAST | 506 | |
Natural variantiVAR_082223 | 214 | A → V in NBIA6; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_070975 | 499 | R → C in NBIA6; reduced protein abundance; loss of dephospho-CoA kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs140709867EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036404 | 1 | M → MRTPRLRAQPRGAVYQAPSP PPAPVGLGSM in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF453478 mRNA Translation: AAL50813.1 AY094602 mRNA Translation: AAM19996.1 AK075415 mRNA No translation available. AK297153 mRNA Translation: BAG59652.1 AK314076 mRNA Translation: BAG36775.1 AC067852 Genomic DNA No translation available. CH471152 Genomic DNA Translation: EAW60840.1 BC006354 mRNA Translation: AAH06354.1 Different initiation. BC020985 mRNA Translation: AAH20985.1 Different initiation. BC067254 mRNA Translation: AAH67254.1 AF208536 mRNA Translation: AAF87955.1 Different initiation. U18919 mRNA Translation: AAA69699.1 Frameshift. BT007168 mRNA Translation: AAP35832.1 |
CCDSi | CCDS11429.1 [Q13057-1] CCDS45685.1 [Q13057-2] |
RefSeqi | NP_001035994.1, NM_001042529.2 [Q13057-1] NP_001035997.2, NM_001042532.3 [Q13057-2] NP_079509.5, NM_025233.6 [Q13057-1] XP_006722179.1, XM_006722116.3 [Q13057-2] XP_011523602.1, XM_011525300.1 [Q13057-1] XP_016880657.1, XM_017025168.1 |
Genome annotation databases
Ensembli | ENST00000393818; ENSP00000377406; ENSG00000068120 [Q13057-1] ENST00000421097; ENSP00000393564; ENSG00000068120 [Q13057-1] ENST00000590958; ENSP00000464814; ENSG00000068120 [Q13057-2] |
GeneIDi | 80347 |
KEGGi | hsa:80347 |
UCSCi | uc002hzz.5, human [Q13057-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF453478 mRNA Translation: AAL50813.1 AY094602 mRNA Translation: AAM19996.1 AK075415 mRNA No translation available. AK297153 mRNA Translation: BAG59652.1 AK314076 mRNA Translation: BAG36775.1 AC067852 Genomic DNA No translation available. CH471152 Genomic DNA Translation: EAW60840.1 BC006354 mRNA Translation: AAH06354.1 Different initiation. BC020985 mRNA Translation: AAH20985.1 Different initiation. BC067254 mRNA Translation: AAH67254.1 AF208536 mRNA Translation: AAF87955.1 Different initiation. U18919 mRNA Translation: AAA69699.1 Frameshift. BT007168 mRNA Translation: AAP35832.1 |
CCDSi | CCDS11429.1 [Q13057-1] CCDS45685.1 [Q13057-2] |
RefSeqi | NP_001035994.1, NM_001042529.2 [Q13057-1] NP_001035997.2, NM_001042532.3 [Q13057-2] NP_079509.5, NM_025233.6 [Q13057-1] XP_006722179.1, XM_006722116.3 [Q13057-2] XP_011523602.1, XM_011525300.1 [Q13057-1] XP_016880657.1, XM_017025168.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123254, 46 interactors |
IntActi | Q13057, 19 interactors |
MINTi | Q13057 |
STRINGi | 9606.ENSP00000464814 |
Chemistry databases
BindingDBi | Q13057 |
ChEMBLi | CHEMBL4105867 |
PTM databases
iPTMneti | Q13057 |
PhosphoSitePlusi | Q13057 |
Polymorphism and mutation databases
BioMutai | COASY |
DMDMi | 32363505 |
Proteomic databases
EPDi | Q13057 |
jPOSTi | Q13057 |
MassIVEi | Q13057 |
MaxQBi | Q13057 |
PaxDbi | Q13057 |
PeptideAtlasi | Q13057 |
PRIDEi | Q13057 |
ProteomicsDBi | 59124 [Q13057-1] 59125 [Q13057-2] |
Protocols and materials databases
Antibodypediai | 16973, 297 antibodies |
DNASUi | 80347 |
Genome annotation databases
Ensembli | ENST00000393818; ENSP00000377406; ENSG00000068120 [Q13057-1] ENST00000421097; ENSP00000393564; ENSG00000068120 [Q13057-1] ENST00000590958; ENSP00000464814; ENSG00000068120 [Q13057-2] |
GeneIDi | 80347 |
KEGGi | hsa:80347 |
UCSCi | uc002hzz.5, human [Q13057-1] |
Organism-specific databases
CTDi | 80347 |
DisGeNETi | 80347 |
EuPathDBi | HostDB:ENSG00000068120.14 |
GeneCardsi | COASY |
HGNCi | HGNC:29932, COASY |
HPAi | ENSG00000068120, Low tissue specificity |
MalaCardsi | COASY |
MIMi | 609855, gene 615643, phenotype 618266, phenotype |
neXtProti | NX_Q13057 |
OpenTargetsi | ENSG00000068120 |
Orphaneti | 397725, COASY protein-associated neurodegeneration |
PharmGKBi | PA134867942 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3220, Eukaryota KOG3351, Eukaryota |
GeneTreei | ENSGT00550000075078 |
HOGENOMi | CLU_027827_1_0_1 |
InParanoidi | Q13057 |
OMAi | VIDCDKV |
OrthoDBi | 1543581at2759 |
PhylomeDBi | Q13057 |
Enzyme and pathway databases
UniPathwayi | UPA00241;UER00355 UPA00241;UER00356 |
BioCyci | MetaCyc:HS00931-MONOMER |
BRENDAi | 2.7.1.24, 2681 2.7.7.3, 2681 |
PathwayCommonsi | Q13057 |
Reactomei | R-HSA-196783, Coenzyme A biosynthesis |
SABIO-RKi | Q13057 |
Miscellaneous databases
BioGRID-ORCSi | 80347, 383 hits in 853 CRISPR screens |
ChiTaRSi | COASY, human |
GeneWikii | COASY |
GenomeRNAii | 80347 |
Pharosi | Q13057, Tbio |
PROi | PR:Q13057 |
RNActi | Q13057, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000068120, Expressed in body of stomach and 229 other tissues |
ExpressionAtlasi | Q13057, baseline and differential |
Genevisiblei | Q13057, HS |
Family and domain databases
Gene3Di | 3.40.50.620, 1 hit |
HAMAPi | MF_00376, Dephospho_CoA_kinase, 1 hit |
InterProi | View protein in InterPro IPR004821, Cyt_trans-like IPR001977, Depp_CoAkinase IPR027417, P-loop_NTPase IPR014729, Rossmann-like_a/b/a_fold |
Pfami | View protein in Pfam PF01121, CoaE, 1 hit PF01467, CTP_transf_like, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR00152, TIGR00152, 1 hit |
PROSITEi | View protein in PROSITE PS51219, DPCK, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | COASY_HUMAN | |
Accessioni | Q13057Primary (citable) accession number: Q13057 Secondary accession number(s): B2RA78 Q9NRM3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | June 27, 2003 | |
Last modified: | December 2, 2020 | |
This is version 200 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations