Human Gene MCAT (ENST00000290429.11_7) from GENCODE V47lift37
  Description: malonyl-CoA-acyl carrier protein transacylase, transcript variant 1 (from RefSeq NM_173467.5)
Gencode Transcript: ENST00000290429.11_7
Gencode Gene: ENSG00000100294.13_11
Transcript (Including UTRs)
   Position: hg19 chr22:43,528,215-43,539,404 Size: 11,190 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr22:43,529,049-43,539,354 Size: 10,306 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:43,528,215-43,539,404)mRNA (may differ from genome)Protein (390 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FABD_HUMAN
DESCRIPTION: RecName: Full=Malonyl-CoA-acyl carrier protein transacylase, mitochondrial; Short=MCT; EC=2.3.1.39; AltName: Full=Mitochondrial malonyl CoA:ACP acyltransferase; AltName: Full=Mitochondrial malonyltransferase; AltName: Full=[Acyl-carrier-protein] malonyltransferase; Flags: Precursor;
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). This suggests the existence of the biosynthesis of fatty acids in mitochondrias.
CATALYTIC ACTIVITY: Malonyl-CoA + [acyl-carrier-protein] = CoA + malonyl-[acyl-carrier-protein].
PATHWAY: Lipid metabolism; fatty acid biosynthesis.
SUBCELLULAR LOCATION: Mitochondrion.
SIMILARITY: Belongs to the type II malonyltransferase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MCAT
Diseases sorted by gene-association score: middle ear disease (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.16 RPKM in Testis
Total median expression: 269.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.5050-0.470 Picture PostScript Text
3' UTR -344.20834-0.413 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001227 - Ac_transferase_dom
IPR014043 - Acyl_transferase
IPR016035 - Acyl_Trfase/lysoPLipase
IPR016036 - Malonyl_transacylase_ACP-bd

Pfam Domains:
PF00698 - Acyl transferase domain

SCOP Domains:
52151 - FabD/lysophospholipase-like
55048 - Probable ACP-binding domain of malonyl-CoA ACP transacylase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2C2N - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8IVS2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0004312 fatty acid synthase activity
GO:0004314 [acyl-carrier-protein] S-malonyltransferase activity
GO:0016419 S-malonyltransferase activity
GO:0016740 transferase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006635 fatty acid beta-oxidation
GO:0008152 metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AL359401 - Isoform 1 of a novel human mRNA from chromosome 22.
AL359403 - Isoform 2 of a novel human mRNA from chromosome 22.
BC042195 - Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial), mRNA (cDNA clone MGC:47838 IMAGE:6052380), complete cds.
BC030985 - Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial), mRNA (cDNA clone IMAGE:4774272), complete cds.
JD339639 - Sequence 320663 from Patent EP1572962.
KJ898692 - Synthetic construct Homo sapiens clone ccsbBroadEn_08086 MCAT gene, encodes complete protein.
JD225578 - Sequence 206602 from Patent EP1572962.
AK314059 - Homo sapiens cDNA, FLJ94725, Homo sapiens malonyl-CoA:acyl carrier protein transacylase(malonyltransferase) (MT), mRNA.
JD137804 - Sequence 118828 from Patent EP1572962.
JD409492 - Sequence 390516 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-429 - fatty acid biosynthesis initiation (mitochondria)

Reactome (by CSHL, EBI, and GO)

Protein Q8IVS2 (Reactome details) participates in the following event(s):

R-HSA-8933547 MCAT transfers Mal from Mal-CoA to NDUFAB1
R-HSA-77289 Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-8978868 Fatty acid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B0QY72, ENST00000290429.1, ENST00000290429.10, ENST00000290429.2, ENST00000290429.3, ENST00000290429.4, ENST00000290429.5, ENST00000290429.6, ENST00000290429.7, ENST00000290429.8, ENST00000290429.9, FABD_HUMAN, MCAT , MT, NM_173467, O95510, O95511, Q8IVS2, uc317kva.1, uc317kva.2
UCSC ID: ENST00000290429.11_7
RefSeq Accession: NM_173467.5
Protein: Q8IVS2 (aka FABD_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.