ENSG00000068120


Homo sapiens

Features
Gene ID: ENSG00000068120
  
Biological name :COASY
  
Synonyms : COASY / Coenzyme A synthase / Q13057
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.2
Gene start: 42561467
Gene end: 42566277
  
Corresponding Affymetrix probe sets: 201913_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000468755
Ensembl peptide - ENSP00000467687
Ensembl peptide - ENSP00000468583
Ensembl peptide - ENSP00000377406
Ensembl peptide - ENSP00000393564
Ensembl peptide - ENSP00000464814
Ensembl peptide - ENSP00000466838
Ensembl peptide - ENSP00000467174
Ensembl peptide - ENSP00000467322
Ensembl peptide - ENSP00000467519
NCBI entrez gene - 80347     See in Manteia.
OMIM - 609855
RefSeq - XM_017025168
RefSeq - NM_001042529
RefSeq - NM_001042532
RefSeq - NM_025233
RefSeq - XM_006722116
RefSeq - XM_011525300
RefSeq - XM_017025167
RefSeq Peptide - NP_001035997
RefSeq Peptide - NP_001035994
RefSeq Peptide - NP_079509
swissprot - K7EP09
swissprot - K7EPC2
swissprot - K7EPT0
swissprot - K7EQ60
swissprot - K7ES73
swissprot - K7ESK6
swissprot - Q13057
swissprot - K7EN91
Ensembl - ENSG00000068120
  
Related genetic diseases (OMIM): 615643 - Neurodegeneration with brain iron accumulation 6, 615643
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 coasyENSDARG00000042747Danio rerio
 COASYENSGALG00000028866Gallus gallus
 PpatENSMUSG00000001755Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001977  Dephospho-CoA kinase
 IPR004821  Cytidyltransferase-like domain
 IPR014729  Rossmann-like alpha/beta/alpha sandwich fold
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009058 biosynthetic process IEA
 biological_processGO:0009108 coenzyme biosynthetic process TAS
 biological_processGO:0015937 coenzyme A biosynthetic process TAS
 biological_processGO:0016310 phosphorylation IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane TAS
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004140 dephospho-CoA kinase activity TAS
 molecular_functionGO:0004595 pantetheine-phosphate adenylyltransferase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016779 nucleotidyltransferase activity IEA


Pathways (from Reactome)
Pathway description
Coenzyme A biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000722 Obsessive-compulsive disorder 
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001268 Mental deterioration 
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 HP:0001300 Parkinsonism 
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 HP:0001761 Pes cavus 
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 HP:0002063 Rigidity 
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 HP:0002067 Bradykinesia "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators]
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 HP:0002180 Neurodegeneration 
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 HP:0002313 Spastic paraparesis 
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 HP:0002339 Abnormality of the caudate nucleus 
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 HP:0002355 Difficulty walking 
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 HP:0002376 Developmental regression 
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 HP:0002454 MRI shows decreased signal intensity in the pallidal nuclei with central hyperintensity ( eye of the tiger sign) 
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 HP:0002510 Spastic tetraplegia "Spastic paralysis affecting all four limbs." [HPO:curators]
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 HP:0003477 Axonal neuropathy 
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 HP:0003676 Progressive disorder 
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 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
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 HP:0007002 Sensory and motor axonal neuropathy 
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 HP:0010663 Abnormality of the thalamus "An abnormality of the `thalamus` (FMA:62007)." [HPO:probinson]
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 HP:0012048 Oromandibular dystonia "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [HPO:probinson]
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 HP:0040083 Toe walking 
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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