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

    Gene ID: 54995, updated on 27-Nov-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    NEW Try the new Transcript table

    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_001145391.2NP_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:42372
      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_017897.3NP_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:42455
      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_006713216.5XP_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:42455
      fabF; beta-ketoacyl-acyl-carrier-protein synthase II
    2. XM_006713217.5XP_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:1181
      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_054347030.1XP_054203005.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9NWU1
    2. XM_054347029.1XP_054203004.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9NWU1
    3. XM_054347031.1XP_054203006.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B4E3Q7
    4. XM_054347032.1XP_054203007.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B4E3Q7