Seroatlas · Human Serome Atlas

TBXAS1

Thromboxane-A synthase

Also known as: CYP5, CYP5A1, THAS, THAS_HUMAN, TS, TXAS, TXS

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

Protein identityUniProt · HPA

UniProt accession
P24557
Gene
TBXAS1
Ensembl
ENSG00000059377
Chromosome
7
Canonical length
533 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum,Cytosol

OverviewNCBI Gene

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Canonical amino-acid sequenceUniProt

533 residues, UniProt reviewed canonical sequence.

>P24557|TBXAS1
     1  MEALGFLKLE VNGPMVTVAL SVALLALLKW YSTSAFSRLE KLGLRHPKPS PFIGNLTFFR
    61  QGFWESQMEL RKLYGPLCGY YLGRRMFIVI SEPDMIKQVL VENFSNFTNR MASGLEFKSV
   121  ADSVLFLRDK RWEEVRGALM SAFSPEKLNE MVPLISQACD LLLAHLKRYA ESGDAFDIQR
   181  CYCNYTTDVV ASVAFGTPVD SWQAPEDPFV KHCKRFFEFC IPRPILVLLL SFPSIMVPLA
   241  RILPNKNRDE LNGFFNKLIR NVIALRDQQA AEERRRDFLQ MVLDARHSAS PMGVQDFDIV
   301  RDVFSSTGCK PNPSRQHQPS PMARPLTVDE IVGQAFIFLI AGYEIITNTL SFATYLLATN
   361  PDCQEKLLRE VDVFKEKHMA PEFCSLEEGL PYLDMVIAET LRMYPPAFRF TREAAQDCEV
   421  LGQRIPAGAV LEMAVGALHH DPEHWPSPET FNPERFTAEA RQQHRPFTYL PFGAGPRSCL
   481  GVRLGLLEVK LTLLHVLHKF RFQACPETQV PLQLESKSAL GPKNGVYIKI VSR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBXAS1 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
Other membrane
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
54 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 54 nTPM
  • appendix: 26 nTPM
  • bone marrow: 23 nTPM
  • lung: 22 nTPM
  • gallbladder: 18 nTPM
  • thymus: 14 nTPM

Single-cell type

  • neutrophils: 2,239 nCPM
  • microglia: 1,055 nCPM
  • monocytes: 893 nCPM
  • macrophages: 682 nCPM
  • kupffer cells: 675 nCPM
  • megakaryocyte progenitors: 418 nCPM

Immune cell

  • intermediate monocyte: 436 nTPM
  • non-classical monocyte: 405 nTPM
  • eosinophil: 315 nTPM
  • basophil: 292 nTPM
  • classical monocyte: 291 nTPM
  • neutrophil: 259 nTPM

Brain region

  • white matter: 30 nTPM
  • medulla oblongata: 19 nTPM
  • thalamus: 19 nTPM
  • spinal cord: 17 nTPM
  • pons: 17 nTPM
  • cerebral cortex: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBXAS1.

Disease | AllUniProt

Conditions TBXAS1 is implicated in, by any mechanism.

  • Ghosal hematodiaphyseal dysplasia (GHDD) MIM:231095

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 386 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Ghosal hematodiaphyseal dysplasia
  • Thromboxane synthetase deficiency
  • TBXAS1-related disorder

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)
1.39
gnomAD pLI
0
gnomAD missense Z
-0.81
DepMap mean gene effect
-0.09
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TBXAS1 as an antibody target. Whether an autoantibody or antibody against TBXAS1 could matter depends on whether native TBXAS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TBXAS1 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 TBXAS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TBXAS1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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