MCAT
entrez
27349
canonical
uniprot
Q8IVS2
canonical
ensembl
ENSG00000100294
resolver
ensp
ENSP00000290429
resolver
ensp
ENSP00000331306
resolver
genesymbol
MCAT
resolver
genesymbol_syn
MT
resolver
hgnc
HGNC:29622
resolver
uniprot
B0QY72
resolver
uniprot
O95510
resolver
uniprot
O95511
resolver
uniprot_entry
FABD_HUMAN
resolver
uniprot_sec
B0QY72
resolver
uniprot_sec
O95510
resolver
uniprot_sec
O95511
resolver
amino_acid_sequence
MSVRVARVAWVRGLGASYRRGASSFPVPPPGAQGVAELLRDATGAEEEAPWAATERRMPGQCSVLLFPGQGSQVVGMGRGLLNYPRVRELYAAARRVLGYDLLELSLHGPQETLDRTVHCQPAIFVASLAAVEKLHHLQPSVIENCVAAAGFSVGEFAALVFAGAMEFAEGLYAVKIRAEAMQEASEAVPSGMLSVLGQPQSKFNFACLEAREHCKSLGIENPVCEVSNYLFPDCRVISGHQEALRFLQKNSSKFHFRRTRMLPVSGAFHTRLMEPAVEPLTQALKAVDIKKPLVSVYSNVHAHRYRHPGHIHKLLAQQLVSPVKWEQTMHAIYERKKGRGFPQTFEVGPGRQLGAILKSCNMQAWKSYSAVDVLQTLEHVDLDPQEPPR
uniprot
proteins
disease_involvement
DISEASE: Optic atrophy 15 (OPA15) [MIM:620583]: A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA15 is an autosomal recessive form. {ECO:0000269|PubMed:31915829, ECO:0000269|PubMed:33918393}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.39
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1) (PubMed:12882974, PubMed:19549604). This suggests the existence of the biosynthesis of fatty acids in mitochondria (PubMed:12882974). Also acts as a mitochondrial small ribosomal subunit (mt-SSU) assembly factor (PubMed:36482135). {ECO:0000269|PubMed:12882974, ECO:0000269|PubMed:19549604, ECO:0000269|PubMed:36482135}.
uniprot
proteins
mass_dalton
42962
uniprot
proteins
mutagenesis
MUTAGEN 178; /note="R->A,G,Q: Strongly decreased affinity for malonyl-CoA."; /evidence="ECO:0000269|PubMed:19549604
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid biosynthesis.
uniprot
proteins
protein_family
Type II malonyltransferase family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12529303
uniprot
proteins
pubmed
12882974
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19549604
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31915829
uniprot
proteins
pubmed
33918393
uniprot
proteins
pubmed
36482135
uniprot
proteins
sequence_length
390
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12882974}.
uniprot
proteins