ACSF3
entrez
197322
canonical
uniprot
Q4G176
canonical
ensembl
ENSG00000176715
resolver
ensp
ENSP00000320646
resolver
ensp
ENSP00000367596
resolver
ensp
ENSP00000384627
resolver
ensp
ENSP00000479130
resolver
ensp
ENSP00000542025
resolver
ensp
ENSP00000542026
resolver
enst
ENST00000317447
resolver
enst
ENST00000378345
resolver
enst
ENST00000406948
resolver
enst
ENST00000614302
resolver
enst
ENST00000871966
resolver
enst
ENST00000871967
resolver
genesymbol
ACSF3
resolver
hgnc
HGNC:27288
resolver
uniprot
A8K4J8
resolver
uniprot
C9JQL6
resolver
uniprot
F5H5A1
resolver
uniprot
Q6INA0
resolver
uniprot
Q8N2F7
resolver
uniprot_entry
ACSF3_HUMAN
resolver
uniprot_entry
F5H5A1_HUMAN
resolver
uniprot_sec
A8K4J8
resolver
uniprot_sec
C9JQL6
resolver
uniprot_sec
Q6INA0
resolver
uniprot_sec
Q8N2F7
resolver
amino_acid_sequence
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQEICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILHVLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:21841779}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.2.1.76
uniprot
proteins
function
FUNCTION: Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21841779, PubMed:21846720). May have some preference toward very-long-chain substrates (PubMed:17762044). {ECO:0000269|PubMed:17762044, ECO:0000269|PubMed:21841779, ECO:0000269|PubMed:21846720}.
uniprot
proteins
mass_dalton
64130
uniprot
proteins
mutagenesis
MUTAGEN 354; /note="R->A: Impairs malonyl-CoA synthase activity."; /evidence="ECO:0000269|PubMed:21846720"; MUTAGEN 354; /note="R->L: Impairs malonyl-CoA synthase activity."; /evidence="ECO:0000269|PubMed:21846720
uniprot
proteins
protein_family
ATP-dependent AMP-binding enzyme family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
17762044
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21841779
uniprot
proteins
pubmed
21846720
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
576
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21841779, ECO:0000269|PubMed:21846720}.
uniprot
proteins