Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
HomeAbout PhosphoSiteUsing PhosphoSiteCuration ProcessContact
logos LINCs Logo Mt Sinai Logo NIH Logo NCI Logo
Protein Page:
TBXAS1 (human)

TBXAS1 Defects in TBXAS1 are the cause of Ghosal hematodiaphyseal dysplasia (GHDD). GHDD is a rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. Defects in TBXAS1 are the cause of thromboxane synthetase deficiency (TBXAS1 deficiency). It is characterized by hemorrhagic diathesis. Belongs to the cytochrome P450 family. Note: This description may include information from UniProtKB.
Protein type: EC; Isomerase; Membrane protein, integral; Membrane protein, multi-pass; Oxidoreductase; Lipid Metabolism - arachidonic acid
Chromosomal Location of Human Ortholog: 7q34-q35
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: heme binding; iron ion binding; monooxygenase activity; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; thromboxane-A synthase activity
Biological Process: arachidonic acid metabolic process; cyclooxygenase pathway; icosanoid metabolic process; xenobiotic metabolic process
Disease: Bleeding Disorder, Platelet-type, 14; Ghosal Hematodiaphyseal Dysplasia
Reference #:  P24557 (UniProtKB)
Alt. Names/Synonyms: CYP5; CYP5A1; Cytochrome P450 5A1; cytochrome P450, family 5, subfamily A, polypeptide 1; FLJ52771; GHOSAL; platelet, cytochrome P450, subfamily V; TBXAS1; THAS; thromboxane A synthase 1 (platelet); Thromboxane-A synthase; TS; TXA synthase; TXAS; TXS
Gene Symbols: TBXAS1
Molecular weight: 60,518 Da
Basal Isoelectric point: 7.56  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  ENZYME  |  Phospho.ELM  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  

Show Multiple Sequence Alignment


LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.



Home  |  Curator Login With enhanced literature mining using Linguamatics I2E I2E Logo Produced by 3rd Millennium  |  Design by Digizyme
©2003-2013 Cell Signaling Technology, Inc.