Entity Details

Primary name ACSF3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ4G176
EntryNameACSF3_HUMAN
FullNameMalonate--CoA ligase ACSF3, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length576
SequenceStatuscomplete
DateCreated2008-01-15
DateModified2021-06-02

Ontological Relatives

GenesACSF3

GO terms

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GOName
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0016405 CoA-ligase activity
GO:0016878 acid-thiol ligase activity
GO:0031957 very long-chain fatty acid-CoA ligase activity
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process
GO:0090409 malonyl-CoA synthetase activity
GO:0090410 malonate catabolic process

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR000873 AMP-dependent synthetase/ligaseDomainDomain
IPR020845 AMP-binding, conserved siteSiteConserved site
IPR025110 AMP-binding enzyme, C-terminal domainDomainDomain
IPR042099 ANL, N-terminal domainFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614265 OMIMCombined malonic and methylmalonic aciduria (CMAMMA)A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions