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 that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative spli... See more...

Aliases for MCAT Gene

Aliases for MCAT Gene

  • Malonyl-CoA-Acyl Carrier Protein Transacylase 2 3 5
  • MCT 2 3 4
  • MT 2 3 4
  • Malonyl-CoA-Acyl Carrier Protein Transacylase, Mitochondrial 3 4
  • Malonyl CoA:ACP Acyltransferase (Mitochondrial) 2 3
  • Mitochondrial Malonyl CoA:ACP Acyltransferase 3 4
  • [Acyl-Carrier-Protein] S-Malonyltransferase 2 3
  • [Acyl-Carrier-Protein] Malonyltransferase 3 4
  • Mitochondrial Malonyltransferase 3 4
  • FASN2C 2 3
  • NET62 2 3
  • MCT1 2 3
  • FabD 2 3
  • EC 2.3.1.39 4
  • MCAT 5

External Ids for MCAT Gene

Previous GeneCards Identifiers for MCAT Gene

  • GC22M041858
  • GC22M043528
  • GC22M026486

Summaries for MCAT Gene

Entrez Gene Summary for MCAT Gene

  • 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 that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]

GeneCards Summary for MCAT Gene

MCAT (Malonyl-CoA-Acyl Carrier Protein Transacylase) is a Protein Coding gene. Diseases associated with MCAT include Myopathy, Myosin Storage, Autosomal Dominant and Middle Ear Disease. Among its related pathways are Fatty acid biosynthesis (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include [acyl-carrier-protein] S-malonyltransferase activity.

UniProtKB/Swiss-Prot Summary for MCAT Gene

  • 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 mitochondria.

Gene Wiki entry for MCAT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCAT Gene

Genomics for MCAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCAT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J043142 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 607.1 -0.2 -214 3.2 SP1 GATAD2A HNRNPL ZNF629 TFE3 RFX1 NFKBIZ ZNF692 JUND FOXA1 MCAT lnc-TSPO-5 RRP7BP POLDIP3 RN7SKP80 TTLL1-AS1 TTLL1 BIK TSPO TTLL12
GH22J043012 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +128.7 128702 3.4 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 NFKBIZ ZNF692 PACSIN2 RPL5P34 ARFGAP3 MCAT lnc-TTLL1-3 RF00017-3865
GH22J043103 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 +39.2 39177 2 GATAD2A PRDM10 ZNF629 TFE3 LEF1 IKZF1 NFKBIZ JUND PRDM1 PKNOX1 ARFGAP3 MCAT TSPO CYB5R3 BIK CYP2D7 lnc-TTLL1-2 TTLL1
GH22J043110 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11.9 +32.7 32697 3 SP1 PRDM10 KDM1A FOXA1 ZIC2 POLR2A EZH2 YY1 ZFX SCRT2 BIK MCAT TSPO ARFGAP3 lnc-TTLL1-2 TTLL1
GH22J043006 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 10.5 +133.6 133560 6.2 TEAD4 PRDM10 LEF1 IKZF1 JUND FOXA1 MTA2 ZIC2 MTA1 DPF2 ARFGAP3 MCAT PACSIN2 lnc-TTLL1-3 RF00017-3865
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCAT

Top Transcription factor binding sites by QIAGEN in the MCAT gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for MCAT Gene

Genomic Locations for MCAT Gene
chr22:43,132,206-43,143,398
(GRCh38/hg38)
Size:
11,193 bases
Orientation:
Minus strand
chr22:43,528,212-43,539,403
(GRCh37/hg19)
Size:
11,192 bases
Orientation:
Minus strand

Genomic View for MCAT Gene

Genes around MCAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCAT Gene

Proteins for MCAT Gene

  • Protein details for MCAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVS2-FABD_HUMAN
    Recommended name:
    Malonyl-CoA-acyl carrier protein transacylase, mitochondrial
    Protein Accession:
    Q8IVS2
    Secondary Accessions:
    • B0QY72
    • O95510
    • O95511

    Protein attributes for MCAT Gene

    Size:
    390 amino acids
    Molecular mass:
    42962 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MCAT Gene

    Alternative splice isoforms for MCAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCAT Gene

Post-translational modifications for MCAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCAT Gene

No data available for DME Specific Peptides for MCAT Gene

Domains & Families for MCAT Gene

Gene Families for MCAT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for MCAT Gene

Suggested Antigen Peptide Sequences for MCAT Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94725, Homo sapiens malonyl-CoA:acyl carrier protein transacylase(malonyltransferase) (MT), mRNA (B0QY72_HUMAN)
  • [Acyl-carrier-protein] malonyltransferase (FABD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IVS2

UniProtKB/Swiss-Prot:

FABD_HUMAN :
  • Belongs to the type II malonyltransferase family.
Family:
  • Belongs to the type II malonyltransferase family.
genes like me logo Genes that share domains with MCAT: view

Function for MCAT Gene

Molecular function for MCAT Gene

UniProtKB/Swiss-Prot 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 mitochondria.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=holo-[ACP] + malonyl-CoA = CoA + malonyl-[ACP]; Xref=Rhea:RHEA:41792, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449; EC=2.3.1.39; Evidence={ECO:0000269|PubMed:12882974};.

Enzyme Numbers (IUBMB) for MCAT Gene

Phenotypes From GWAS Catalog for MCAT Gene

Gene Ontology (GO) - Molecular Function for MCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0004312 fatty acid synthase activity IDA 12882974
GO:0004314 [acyl-carrier-protein] S-malonyltransferase activity TAS --
GO:0016419 S-malonyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with MCAT: view
genes like me logo Genes that share phenotypes with MCAT: view

Animal Model Products

CRISPR Products

miRNA for MCAT Gene

miRTarBase miRNAs that target MCAT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCAT

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MCAT Gene

Localization for MCAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCAT Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCAT gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 12882974
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MCAT: view

Pathways & Interactions for MCAT Gene

genes like me logo Genes that share pathways with MCAT: view

UniProtKB/Swiss-Prot Q8IVS2-FABD_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

SIGNOR curated interactions for MCAT Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IBA,IEA --
GO:0006635 fatty acid beta-oxidation TAS --
genes like me logo Genes that share ontologies with MCAT: view

Drugs & Compounds for MCAT Gene

(3) Drugs for MCAT Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
3,6,9,12,15-PENTAOXAHEPTADECAN-1-OL Experimental Pharma Target 0
Malonyl-CoA Experimental Pharma 0
Coenzyme A Investigational Nutra 0
genes like me logo Genes that share compounds with MCAT: view

Transcripts for MCAT Gene

mRNA/cDNA for MCAT Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCAT

Alternative Splicing Database (ASD) splice patterns (SP) for MCAT Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c
SP1: - - -
SP2: - - - -
SP3: -
SP4: - - -
SP5: - -

Relevant External Links for MCAT Gene

GeneLoc Exon Structure for
MCAT

Expression for MCAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCAT Gene

This gene is overexpressed in Liver (18.4) and Lung (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCAT Gene



Protein tissue co-expression partners for MCAT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCAT

SOURCE GeneReport for Unigene cluster for MCAT Gene:

Hs.349111

Evidence on tissue expression from TISSUES for MCAT Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Muscle(3)
  • Heart(2.7)
  • Kidney(2.7)
  • Skin(2.3)
  • Blood(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with MCAT: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCAT Gene

Orthologs for MCAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCAT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MCAT 30 31
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MCAT 30 31
  • 86.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MCAT 30 31
  • 85.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mcat 30
  • 79.16 (n)
Mouse
(Mus musculus)
Mammalia Mcat 30 17 31
  • 78.68 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MCAT 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MCAT 30 31
  • 71.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCAT 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mcat 30
  • 66.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30452 30
Zebrafish
(Danio rerio)
Actinopterygii mcat 30 31
  • 63 (n)
OneToMany
MCAT (2 of 2) 31
  • 61 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta beg 30 31
  • 57.42 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005650 30
  • 55.43 (n)
Worm
(Caenorhabditis elegans)
Secernentea C50D2.9 30 31
  • 49.94 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G30200 30
  • 47.18 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0297400 30
  • 49.38 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3192 31
  • 41 (a)
OneToOne
Species where no ortholog for MCAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MCAT Gene

ENSEMBL:
Gene Tree for MCAT (if available)
TreeFam:
Gene Tree for MCAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCAT: view image

Paralogs for MCAT Gene

No data available for Paralogs for MCAT Gene

Variants for MCAT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCAT Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
716517 Benign: not provided 43,133,088(-) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
784422 Benign: not provided 43,133,055(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
786385 Benign: not provided 43,137,099(-) C/G SYNONYMOUS_VARIANT,INTRON_VARIANT
rs13815 - p.Ala303Gly

Additional dbSNP identifiers (rs#s) for MCAT Gene

Structural Variations from Database of Genomic Variants (DGV) for MCAT Gene

Variant ID Type Subtype PubMed ID
esv2762124 CNV gain 21179565
esv33816 CNV gain 17666407
esv3647855 CNV loss 21293372
nsv834214 CNV gain 17160897

Variation tolerance for MCAT Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.77; 89.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCAT Gene

Human Gene Mutation Database (HGMD)
MCAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCAT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCAT Gene

Disorders for MCAT Gene

MalaCards: The human disease database

(2) MalaCards diseases for MCAT Gene - From: DISEASES

Disorder Aliases PubMed IDs
myopathy, myosin storage, autosomal dominant
  • msma
middle ear disease
  • middle ear anomaly
- elite association - COSMIC cancer census association via MalaCards
Search MCAT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MCAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MCAT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MCAT Gene

Publications for MCAT Gene

  1. Cloning, expression, characterization, and interaction of two components of a human mitochondrial fatty acid synthase. Malonyltransferase and acyl carrier protein. (PMID: 12882974) Zhang L … Smith S (The Journal of biological chemistry 2003) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation. (PMID: 20564319) Kim ST … Sun J (The Prostate 2010) 3 41
  4. Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. (PMID: 19767753) Eeles RA … Easton DF (Nature genetics 2009) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for MCAT Gene

Sources for MCAT Gene