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MCAT malonyl-CoA-acyl carrier protein transacylase [ Homo sapiens (human) ]

Gene ID: 27349, updated on 5-Mar-2024

Summary

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Official Symbol
MCATprovided by HGNC
Official Full Name
malonyl-CoA-acyl carrier protein transacylaseprovided by HGNC
Primary source
HGNC:HGNC:29622
See related
Ensembl:ENSG00000100294 MIM:614479; AllianceGenome:HGNC:29622
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MT; MCT; MCT1; fabD; NET62; OPA15; FASN2C
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 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]
Expression
Ubiquitous expression in kidney (RPKM 9.6), testis (RPKM 4.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
22q13.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (43132206..43143398, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43613358..43624552, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43528212..43539404, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S25 pseudogene 10 Neighboring gene Sharpr-MPRA regulatory region 7153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43506823-43507381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19183 Neighboring gene BCL2 interacting killer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43524576-43525453 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43553089-43553609 Neighboring gene translocator protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43559052-43559555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43559556-43560058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43564214-43565070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43565071-43565926 Neighboring gene tubulin tyrosine ligase like 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43581791-43582295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13858

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy. Gerber S, et al. Genes (Basel), 2021 Apr 2. PMID 33918393, Free PMC Article
  2. Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy. Li H, et al. Hum Mol Genet, 2020 Feb 1. PMID 31915829
  3. Exercise training decreases the concentration of malonyl-CoA and increases the expression and activity of malonyl-CoA decarboxylase in human muscle. Kuhl JE, et al. Am J Physiol Endocrinol Metab, 2006 Jun. PMID 16434556
  4. Cloning, expression, characterization, and interaction of two components of a human mitochondrial fatty acid synthase. Malonyltransferase and acyl carrier protein. Zhang L, et al. J Biol Chem, 2003 Oct 10. PMID 12882974
  5. Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Eeles RA, et al. Nat Genet, 2009 Oct. PMID 19767753, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.
    Title: MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.
  2. Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
    Title: Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. Meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation.
  5. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Optic atrophy 15
MedGen: CN375811 OMIM: 620583 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC47838

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables [acyl-carrier-protein] S-malonyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables [acyl-carrier-protein] S-malonyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables [acyl-carrier-protein] S-malonyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in fatty acid beta-oxidation TAS
Traceable Author Statement
more info
  
involved_in fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
malonyl-CoA-acyl carrier protein transacylase, mitochondrial
Names
[Acyl-carrier-protein] malonyltransferase
[acyl-carrier-protein] S-malonyltransferase
malonyl CoA:ACP acyltransferase (mitochondrial)
mitochondrial malonyl CoA:ACP acyltransferase
mitochondrial malonyltransferase
NP_055322.1
NP_775738.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_014507.3 → NP_055322.1  malonyl-CoA-acyl carrier protein transacylase, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_055322.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AI811069, AL359403, BI464466, BX111669, DB306307
    Consensus CDS
    CCDS14045.1
    UniProtKB/Swiss-Prot
    Q8IVS2
    Related
    ENSP00000331306.5, ENST00000327555.5
    Conserved Domains (1) summary
    cl08282
    Location:12 → 171
    Acyl_transf_1; Acyl transferase domain

  2. NM_173467.5 → NP_775738.3  malonyl-CoA-acyl carrier protein transacylase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_775738.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AI811069, AL022237, AL359401, BI464466, BX111669, DB306307
    Consensus CDS
    CCDS33660.1
    UniProtKB/Swiss-Prot
    B0QY72, O95510, O95511, Q8IVS2
    Related
    ENSP00000290429.5, ENST00000290429.11
    Conserved Domains (1) summary
    cl08282
    Location:12 → 359
    Acyl_transf_1; Acyl transferase domain

RNA

  1. NR_046423.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region, compared to variant 1, which results in a frameshift and an early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA402283, AI811069, AL359401, BI464466, BX111669, DB306307

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    43132206..43143398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    43613358..43624552 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IVS2.2 GenPept UniProtKB/Swiss-Prot:Q8IVS2

Gene LinkOut

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