Gene Gene information from NCBI Gene database.
Entrez ID 27349
Gene name Malonyl-CoA-acyl carrier protein transacylase
Gene symbol MCAT
Synonyms (NCBI Gene)
FASN2CMCTMCT1MTNET62OPA15fabD
Chromosome 22
Chromosome location 22q13.2
Summary The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex tha
miRNA miRNA information provided by mirtarbase database.
16
miRTarBase ID miRNA Experiments Reference
MIRT027789 hsa-miR-98-5p Microarray 19088304
MIRT032453 hsa-let-7b-5p Proteomics 18668040
MIRT1136441 hsa-miR-3664-3p CLIP-seq
MIRT1136442 hsa-miR-4279 CLIP-seq
MIRT1136443 hsa-miR-4433 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MTF1 Activation 15378601
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0004314 Function [acyl-carrier-protein] S-malonyltransferase activity IBA
GO:0004314 Function [acyl-carrier-protein] S-malonyltransferase activity IDA 12882974, 19549604
GO:0004314 Function [acyl-carrier-protein] S-malonyltransferase activity IEA
GO:0004314 Function [acyl-carrier-protein] S-malonyltransferase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614479 29622 ENSG00000100294
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IVS2
Protein name Malonyl-CoA-acyl carrier protein transacylase, mitochondrial (MCT) (EC 2.3.1.39) (Mitochondrial malonyl CoA:ACP acyltransferase) (Mitochondrial malonyltransferase) ([Acyl-carrier-protein] malonyltransferase)
Protein 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 f
PDB 2C2N , 8CSP , 8CSQ , 8CSR , 8CSS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00698 Acyl_transf_1 64 346 Acyl transferase domain Domain
Sequence
Sequence length 390
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid biosynthesis
Metabolic pathways
Fatty acid metabolism
  Mitochondrial Fatty Acid Beta-Oxidation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Pathogenic rs2518107452 RCV005932753
Optic atrophy 15 Pathogenic rs2518107452, rs2518100359 RCV003397174
RCV003397175
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs759491564, rs568778084 -
MCAT-related condition Likely benign rs77536207 RCV004758883
Retinal dystrophy Likely benign; Uncertain significance rs77536207, rs377691255 RCV004816992
RCV004818315
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Blindness Associate 33918393
Death Inhibit 37726294
Mitochondrial Diseases Inhibit 37726294
Nerve Degeneration Associate 33918393
Optic Atrophies Hereditary Associate 33918393
Optic Atrophy Hereditary Leber Associate 33918393, 37071596, 37734847
Optic Nerve Diseases Associate 33918393
Vision Disorders Associate 33918393