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    OXSM 3-oxoacyl-ACP synthase, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 54995, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OXSMprovided by HGNC
    Official Full Name
    3-oxoacyl-ACP synthase, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:26063
    See related
    Ensembl:ENSG00000151093 MIM:610324; AllianceGenome:HGNC:26063
    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
    KS; CEM1; KASI; FASN2D
    Summary
    This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]
    Expression
    Ubiquitous expression in testis (RPKM 3.3), thyroid (RPKM 1.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See OXSM in Genome Data Viewer
    Location:
    3p24.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (25790090..25794531)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (25786612..25797297)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (25831581..25836022)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene N-glycanase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:25793125-25793639 Neighboring gene ribosomal protein L32 pseudogene 11 Neighboring gene TATA-box binding protein associated factor 9b pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14147 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:25831060-25831589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19613 Neighboring gene uncharacterized LOC105377000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19614 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:25893740-25894939 Neighboring gene NANOG hESC enhancer GRCh37_chr3:25900147-25901106 Neighboring gene long intergenic non-protein coding RNA 692

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Knockdown of heat shock protein family D member 1 (HSPD1) promotes proliferation and migration of ovarian cancer cells via disrupting the stability of mitochondrial 3-oxoacyl-ACP synthase (OXSM). Duan Y, et al. J Ovarian Res, 2023 Apr 22. PMID 37087461, Free PMC Article
    2. Cloning, expression, and characterization of the human mitochondrial beta-ketoacyl synthase. Complementation of the yeast CEM1 knock-out strain. Zhang L, et al. J Biol Chem, 2005 Apr 1. PMID 15668256
    3. Variability in Streptavidin-Sepharose Matrix Quality Can Significantly Affect Proximity-Dependent Biotinylation (BioID) Data. St-Germain JR, et al. J Proteome Res, 2020 Aug 7. PMID 32628020
    4. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
    5. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of heat shock protein family D member 1 (HSPD1) promotes proliferation and migration of ovarian cancer cells via disrupting the stability of mitochondrial 3-oxoacyl-ACP synthase (OXSM).
      Title: Knockdown of heat shock protein family D member 1 (HSPD1) promotes proliferation and migration of ovarian cancer cells via disrupting the stability of mitochondrial 3-oxoacyl-ACP synthase (OXSM).
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. characterization of the human mitochondrial beta-ketoacyl synthase
      Title: Cloning, expression, and characterization of the human mitochondrial beta-ketoacyl synthase. Complementation of the yeast CEM1 knock-out strain.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ20604

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-oxoacyl-[acyl-carrier-protein] synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-oxoacyl-[acyl-carrier-protein] synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acyl-CoA metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in medium-chain fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in short-chain fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial
    Names
    3-ketoacyl-acyl carrier protein synthase
    3-oxoacyl-acyl-carrier-protein synthase
    acyl-malonyl acyl carrier protein-condensing enzyme
    beta-ketoacyl synthase
    beta-ketoacyl-ACP synthase
    type II mitochondrial beta-ketoacyl synthase
    NP_001138863.1
    NP_060367.1
    XP_006713279.1
    XP_006713280.1
    XP_054203004.1
    XP_054203005.1
    XP_054203006.1
    XP_054203007.1

    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_001145391.2 → NP_001138863.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the coding region compared to variant 1. Isoform 2 is shorter than isoform 1.
      Source sequence(s)
      AK225260, DA916187
      Consensus CDS
      CCDS46780.1
      UniProtKB/Swiss-Prot
      Q9NWU1
      Related
      ENSP00000411303.2, ENST00000420173.2
      Conserved Domains (1) summary
      cl09938
      Location:42 → 372
      cond_enzymes; Condensing enzymes; Family of enzymes that catalyze a (decarboxylating or non-decarboxylating) Claisen-like condensation reaction. Members are share strong structural similarity, and are involved in the synthesis and degradation of fatty acids, and the ...

    2. NM_017897.3 → NP_060367.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_060367.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK000611, DA916187
      Consensus CDS
      CCDS2643.1
      UniProtKB/Swiss-Prot
      Q9NWU1
      Related
      ENSP00000280701.3, ENST00000280701.8
      Conserved Domains (1) summary
      TIGR03150
      Location:42 → 455
      fabF; beta-ketoacyl-acyl-carrier-protein synthase II

    RNA

    1. NR_026937.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK000611, AK304821
      Related
      ENST00000448177.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      25790090..25794531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713216.5 → XP_006713279.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006713279.1

      UniProtKB/Swiss-Prot
      Q9NWU1
      Conserved Domains (1) summary
      TIGR03150
      Location:42 → 455
      fabF; beta-ketoacyl-acyl-carrier-protein synthase II

    2. XM_006713217.5 → XP_006713280.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_006713280.1

      UniProtKB/TrEMBL
      B4E3Q7
      Conserved Domains (1) summary
      cd00834
      Location:1 → 181
      KAS_I_II; Beta-ketoacyl-acyl carrier protein (ACP) synthase (KAS), type I and II. KASs are responsible for the elongation steps in fatty acid biosynthesis. KASIII catalyses the initial condensation and KAS I and II catalyze further elongation steps by Claisen ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      25786612..25797297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347030.1 → XP_054203005.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9NWU1

    2. XM_054347029.1 → XP_054203004.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9NWU1

    3. XM_054347031.1 → XP_054203006.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B4E3Q7

    4. XM_054347032.1 → XP_054203007.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B4E3Q7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWU1.1 GenPept UniProtKB/Swiss-Prot:Q9NWU1

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