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    Mcat malonyl CoA:ACP acyltransferase (mitochondrial) [ Mus musculus (house mouse) ]

    Gene ID: 223722, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mcatprovided by MGI
    Official Full Name
    malonyl CoA:ACP acyltransferase (mitochondrial)provided by MGI
    Primary source
    MGI:MGI:2388651
    See related
    Ensembl:ENSMUSG00000048755 AllianceGenome:MGI:2388651
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable [acyl-carrier-protein] S-malonyltransferase activity. Predicted to be involved in fatty acid biosynthetic process and mitochondrial small ribosomal subunit assembly. Located in mitochondrion. Human ortholog(s) of this gene implicated in optic atrophy. Orthologous to human MCAT (malonyl-CoA-acyl carrier protein transacylase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 22.5), testis adult (RPKM 20.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mcat in Genome Data Viewer
    Location:
    15 E1; 15 39.4 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (83430998..83439936, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (83546797..83555759, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene tubulin tyrosine ligase-like 1 Neighboring gene BCL2-interacting killer Neighboring gene predicted gene, 46495 Neighboring gene translocator protein Neighboring gene tubulin tyrosine ligase-like family, member 12 Neighboring gene STARR-positive B cell enhancer ABC_E8602 Neighboring gene predicted gene, 52182

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. Webb BD, et al. Elife, 2023 Mar 7. PMID 36881526, 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. Compromised mitochondrial fatty acid synthesis in transgenic mice results in defective protein lipoylation and energy disequilibrium. Smith S, et al. PLoS One, 2012. PMID 23077570, Free PMC Article
    4. KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility. Gu J, et al. Cell Death Differ, 2023 Jul. PMID 37142655, Free PMC Article
    5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
      Title: Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
    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.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables [acyl-carrier-protein] S-malonyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables [acyl-carrier-protein] S-malonyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables [acyl-carrier-protein] S-malonyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial small ribosomal subunit assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial small ribosomal subunit assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    malonyl-CoA-acyl carrier protein transacylase, mitochondrial
    Names
    MCT
    [Acyl-carrier-protein] malonyltransferase
    mitochondrial malonyltransferase
    NP_001025185.1
    NP_001402935.1
    NP_001402936.1

    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_001030014.3 → NP_001025185.1  malonyl-CoA-acyl carrier protein transacylase, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001025185.1

      Status: VALIDATED

      Source sequence(s)
      AL583889
      Consensus CDS
      CCDS27704.1
      UniProtKB/Swiss-Prot
      Q4FZH0, Q8R3F5
      Related
      ENSMUSP00000051569.9, ENSMUST00000061882.10
      Conserved Domains (1) summary
      cl08282
      Location:16 → 357
      Acyl_transf_1; Acyl transferase domain

    2. NM_001416006.1 → NP_001402935.1  malonyl-CoA-acyl carrier protein transacylase, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL583889

    3. NM_001416007.1 → NP_001402936.1  malonyl-CoA-acyl carrier protein transacylase, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL583889

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      83430998..83439936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R3F5.3 GenPept UniProtKB/Swiss-Prot:Q8R3F5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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