Human Gene OXSM (ENST00000280701.8) from GENCODE V44
  Description: Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_017897)
RefSeq Summary (NM_017897): 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].
Gencode Transcript: ENST00000280701.8
Gencode Gene: ENSG00000151093.8
Transcript (Including UTRs)
   Position: hg38 chr3:25,790,090-25,794,531 Size: 4,442 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr3:25,791,021-25,794,494 Size: 3,474 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:25,790,090-25,794,531)mRNA (may differ from genome)Protein (459 aa)
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-  Comments and Description Text from UniProtKB
  ID: OXSM_HUMAN
DESCRIPTION: RecName: Full=3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial; EC=2.3.1.41; AltName: Full=Beta-ketoacyl-ACP synthase; Flags: Precursor;
FUNCTION: May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function.
CATALYTIC ACTIVITY: Acyl-[acyl-carrier-protein] + malonyl-[acyl- carrier-protein] = 3-oxoacyl-[acyl-carrier-protein] + CO(2) + [acyl-carrier-protein].
ENZYME REGULATION: Inhibited by cerulenin.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=3.9 uM for C4-[acyl-carrier-protein]; KM=1.9 uM for C6-[acyl-carrier-protein]; KM=10.9 uM for C8-[acyl-carrier-protein]; KM=1.8 uM for C10-[acyl-carrier-protein]; KM=9.5 uM for C12-[acyl-carrier-protein]; KM=50.8 uM for C14-[acyl-carrier-protein]; Vmax=129 nmol/min/mg enzyme toward C4-[acyl-carrier-protein]; Vmax=241 nmol/min/mg enzyme toward C6-[acyl-carrier-protein]; Vmax=271 nmol/min/mg enzyme toward C8-[acyl-carrier-protein]; Vmax=364 nmol/min/mg enzyme toward C10-[acyl-carrier-protein]; Vmax=1045 nmol/min/mg enzyme toward C12-[acyl-carrier-protein]; Vmax=115 nmol/min/mg enzyme toward C14-[acyl-carrier-protein]; Note=The highest catalytic efficiency is observed for C10-[acyl- carrier-protein];
PATHWAY: Lipid metabolism; fatty acid biosynthesis.
SUBCELLULAR LOCATION: Mitochondrion.
TISSUE SPECIFICITY: Widely expressed. Higher expression in heart, skeletal muscle, liver and kidney which contain high levels of active mitochondria.
SIMILARITY: Belongs to the beta-ketoacyl-ACP synthases family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.14 RPKM in Testis
Total median expression: 229.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.6089-0.209 Picture PostScript Text
3' UTR -0.6037-0.016 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017568 - 3-oxoacyl-ACP_synth-2
IPR018201 - Ketoacyl_synth_AS
IPR014031 - Ketoacyl_synth_C
IPR014030 - Ketoacyl_synth_N
IPR016039 - Thiolase-like
IPR016038 - Thiolase-like_subgr

Pfam Domains:
PF00109 - Beta-ketoacyl synthase, N-terminal domain
PF02801 - Beta-ketoacyl synthase, C-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2C9H - X-ray MuPIT 2IWY - X-ray MuPIT 2IWZ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NWU1
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
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AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004315 3-oxoacyl-[acyl-carrier-protein] synthase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups

Biological Process:
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006637 acyl-CoA metabolic process
GO:0008152 metabolic process
GO:0051790 short-chain fatty acid biosynthetic process
GO:0051792 medium-chain fatty acid biosynthetic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK000611 - Homo sapiens cDNA FLJ20604 fis, clone KAT06449.
AK304821 - Homo sapiens cDNA FLJ52134 complete cds, highly similar to 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial precursor (EC 2.3.1.41).
AK225260 - Homo sapiens mRNA for hypothetical protein FLJ20604 variant, clone: DMC04594.
BC008202 - Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial, mRNA (cDNA clone MGC:4956 IMAGE:3446492), complete cds.
JD235725 - Sequence 216749 from Patent EP1572962.
JD260498 - Sequence 241522 from Patent EP1572962.
JD155117 - Sequence 136141 from Patent EP1572962.
CU678891 - Synthetic construct Homo sapiens gateway clone IMAGE:100019494 5' read OXSM mRNA.
JF432169 - Synthetic construct Homo sapiens clone IMAGE:100073320 3-oxoacyl-ACP synthase, mitochondrial (OXSM) gene, encodes complete protein.
KJ894111 - Synthetic construct Homo sapiens clone ccsbBroadEn_03505 OXSM gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00061 - Fatty acid biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY66-429 - fatty acid biosynthesis initiation (mitochondria)
PWY66-430 - myristate biosynthesis (mitochondria)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000280701.1, ENST00000280701.2, ENST00000280701.3, ENST00000280701.4, ENST00000280701.5, ENST00000280701.6, ENST00000280701.7, NM_017897, OXSM_HUMAN, Q9NWU1, uc003cdn.1, uc003cdn.2, uc003cdn.3, uc003cdn.4, uc003cdn.5
UCSC ID: ENST00000280701.8
RefSeq Accession: NM_017897
Protein: Q9NWU1 (aka OXSM_HUMAN)
CCDS: CCDS2643.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.