Version 5.4
Homo sapiens Protein: ACSF3
Summary
InnateDB Protein IDBP-47151.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACSF3
Protein Name acyl-CoA synthetase family member 3
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000320646
InnateDB Gene IDBG-47147 (ACSF3)
Protein Structure
UniProt Annotation
Function Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates. {ECO:0000269PubMed:17762044, ECO:0000269PubMed:21841779}.
Subcellular Localization Mitochondrion {ECO:0000269PubMed:21841779}.
Disease Associations Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]: 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. {ECO:0000269PubMed:21841779}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0005524 ATP binding
GO:0016878 acid-thiol ligase activity
GO:0090409 malonyl-CoA synthetase activity
Biological Process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0008152 metabolic process
GO:0090410 malonate catabolic process
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR000873 AMP-dependent synthetase/ligase
PFAM PF00501
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q4G176
PhosphoSite PhosphoSite-Q4G176
TrEMBL H3BTS0
UniProt Splice Variant
Entrez Gene 197322
UniGene Hs.737565
RefSeq XP_005256350
HUGO HGNC:27288
OMIM 614245
CCDS CCDS10974
HPRD 14117
IMGT
EMBL AC009113 AC135782 AK075499 AK290963 BC028399 BC072391 CH471184
GenPept AAH28399 AAH72391 BAC11654 BAF83652 EAW66744

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca