MCAT (malonyl-CoA-acyl carrier protein transacylase)

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Gene Gene information from NCBI Gene database.
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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.
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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
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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.
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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.
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MIM HGNC e!Ensembl
614479 29622 ENSG00000100294
Protein Protein information from UniProt database.
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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 
MSVRVARVAWVRGLGASYRRGASSFPVPPPGAQGVAELLRDATGAEEEAPWAATERRMPG
QCSVLLFPGQGSQVVGMGRGLLNYPRVRELYAAARRVLGYDLLELSLHGPQETLDRTVHC
QPAIFVASLAAVEKLHHLQPSVIENCVAAAGFSVGEFAALVFAGAMEFAEGLYAVKIRAE
AMQEASEAVPSGMLSVLGQPQSKFNFACLEAREHCKSLGIENPVCEVSNYLFPDCRVISG
HQEALRFLQKNSSKFHFRRTRMLPVSGAFHTRLMEPAVEPLTQALKAVDIKKPLVSVYSN
VHAHRYRHPGHIHKLLAQQLVSPVKWEQTMHAIYERKKGRGFPQTFEVGPGRQLGAILKS
CNMQAWKSYSAVDVLQTLEHVDLDPQEPPR
Sequence length 390
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Fatty acid biosynthesis Mitochondrial Fatty Acid Beta-Oxidation
Metabolic pathways  
Fatty acid metabolism  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Pathogenic rs2518107452 RCV005932753
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy 15 Pathogenic rs2518107452, rs2518100359 RCV003397174
RCV003397175
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY — Disgenet, Orphanet
Disgenet, Orphanet 		31915829
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE OPTIC ATROPHY — CTD 31915829
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MCAT-related condition Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Retinal dystrophy Likely benign; Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (101)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 26539827, 26563366, 28206968
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 28206968
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 31040927
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26539827
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 19789340, 29534146, 30790227
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets BEFREE 28858396
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26765963, 30355947
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 17957103
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal recessive isolated optic atrophy Optic Atrophy Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 25263481, 27373212, 30026847
★★★★★
★☆☆☆☆
Found in Text Mining only
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OPA3 1 shared diseaseOptic atrophy 6 shared evidence sourcesDisgenet (Optic atrophy), Orphanet (Optic atrophy), ClinVar (Optic atrophy), CTD (Optic atrophy), ClinGen (Optic atrophy), HPO (Optic atrophy) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. MECR 1 shared diseaseOptic atrophy 2 shared pathwaysFatty acid biosynthesis, Fatty acid metabolism 4 shared evidence sourcesDisgenet (Optic atrophy), Orphanet (Optic atrophy), ClinVar (Optic atrophy), HPO (Optic atrophy) Related via 2 shared pathways including Fatty acid biosynthesis, Fatty acid metabolism — evidence mostly Disgenet. RTN4IP1 1 shared diseaseOptic atrophy 5 shared evidence sourcesDisgenet (Optic atrophy), Orphanet (Optic atrophy), ClinVar (Optic atrophy), CTD (Optic atrophy), HPO (Optic atrophy) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. YME1L1 1 shared diseaseOptic atrophy 6 shared evidence sourcesDisgenet (Optic atrophy), Orphanet (Optic atrophy), ClinVar (Optic atrophy), CTD (Optic atrophy), ClinGen (Optic atrophy), HPO (Optic atrophy) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. ACO2 1 shared diseaseOptic atrophy 6 shared evidence sourcesDisgenet (Optic atrophy), Orphanet (Optic atrophy), ClinVar (Optic atrophy), CTD (Optic atrophy), ClinGen (Optic atrophy), HPO (Optic atrophy) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet.
Retinitis pigmentosa Linked via 3 of 5 related genesOPA3, RTN4IP1, ACO2 Mitochondrial disease Linked via 3 of 5 related genesMECR, YME1L1, ACO2 Global developmental delay Linked via 2 of 5 related genesRTN4IP1, ACO2 3-methylglutaconic aciduria Linked via 1 of 5 related genesOPA3 Alzheimer disease Linked via 1 of 5 related genesOPA3