InnateDB Protein
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IDBP-294371.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ACSF3
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Protein Name
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acyl-CoA synthetase family member 3
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000384627
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InnateDB Gene
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IDBG-47147 (ACSF3)
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Protein Structure
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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}.
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Subcellular Localization |
Mitochondrion {ECO:0000269PubMed:21841779}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
7
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000873
AMP-dependent synthetase/ligase
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PFAM |
PF00501
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q4G176
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PhosphoSite |
PhosphoSite-Q4G176
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TrEMBL |
H3BTS0
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UniProt Splice Variant |
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Entrez Gene |
197322
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UniGene |
Hs.737565
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RefSeq |
XP_005256350
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HUGO |
HGNC:27288
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OMIM |
614245
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CCDS |
CCDS10974
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HPRD |
14117
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IMGT |
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EMBL |
AC009113
AC135782
AK075499
AK290963
BC028399
BC072391
CH471184
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GenPept |
AAH28399
AAH72391
BAC11654
BAF83652
EAW66744
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