Seroatlas · Human Serome Atlas

OXSM

3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial

Also known as: CEM1, FASN2D, FLJ20604, KS, OXSM_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NWU1
Gene: OXSM
Ensembl: ENSG00000151093
Chromosome: 3
Canonical length: 459 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Mitochondria,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

459 residues, UniProt reviewed canonical sequence.

>Q9NWU1|OXSM
     1  MSNCLQNFLK ITSTRLLCSR LCQQLRSKRK FFGTVPISRL HRRVVITGIG LVTPLGVGTH
    61  LVWDRLIGGE SGIVSLVGEE YKSIPCSVAA YVPRGSDEGQ FNEQNFVSKS DIKSMSSPTI
   121  MAIGAAELAM KDSGWHPQSE ADQVATGVAI GMGMIPLEVV SETALNFQTK GYNKVSPFFV
   181  PKILVNMAAG QVSIRYKLKG PNHAVSTACT TGAHAVGDSF RFIAHGDADV MVAGGTDSCI
   241  SPLSLAGFSR ARALSTNSDP KLACRPFHPK RDGFVMGEGA AVLVLEEYEH AVQRRARIYA
   301  EVLGYGLSGD AGHITAPDPE GEGALRCMAA ALKDAGVQPE EISYINAHAT STPLGDAAEN
   361  KAIKHLFKDH AYALAVSSTK GATGHLLGAA GAVEAAFTTL ACYYQKLPPT LNLDCSEPEF
   421  DLNYVPLKAQ EWKTEKRFIG LTNSFGFGGT NATLCIAGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OXSM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

liver: 21 nTPM
tongue: 15 nTPM
skeletal muscle: 14 nTPM
epididymis: 13 nTPM
kidney: 13 nTPM
heart muscle: 12 nTPM

Single-cell type

cardiomyocytes: 268 nCPM
early spermatids: 168 nCPM
late spermatids: 148 nCPM
late primary spermatocytes: 140 nCPM
epicardial cells: 75 nCPM
pancreatic acinar cells: 36 nCPM

Immune cell

NK-cell: 11 nTPM
memory CD8 T-cell: 11 nTPM
naive CD8 T-cell: 11 nTPM
naive CD4 T-cell: 10 nTPM
MAIT T-cell: 10 nTPM
memory CD4 T-cell: 8.9 nTPM

Brain region

choroid plexus: 7.2 nTPM
hypothalamus: 3.4 nTPM
cerebellum: 3.3 nTPM
thalamus: 3.2 nTPM
basal ganglia: 3.1 nTPM
cerebral cortex: 3.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OXSM.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 64 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypercholesterolemia, familial, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.16
gnomAD pLI: 0
gnomAD missense Z: -0.02
DepMap mean gene effect: -0.24
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

acyl-CoA metabolic process
fatty acid biosynthetic process
medium-chain fatty acid biosynthetic process
short-chain fatty acid biosynthetic process

Molecular functions

3-oxoacyl-[acyl-carrier-protein] synthase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Beta-ketoacyl synthase-like, N-terminal domain
Beta-ketoacyl synthase, C-terminal domain
Thiolase-like
Beta-ketoacyl synthase, active site
Polyketide synthase, beta-ketoacyl synthase domain
Beta-ketoacyl synthase, N-terminal domain
Beta-ketoacyl synthase, C-terminal domain
Beta-ketoacyl synthase
3-oxoacyl-[acyl-carrier-protein] synthase 2

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads OXSM as an antibody target. Whether an autoantibody or antibody against OXSM could matter depends on whether native OXSM is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OXSM is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label OXSM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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