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

    Gene ID: 27349, updated on 3-May-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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    See MCAT in Genome Data Viewer
    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
    		Compare labs

    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
    		  
    involved_in mitochondrial small ribosomal subunit assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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

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

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