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MGP003077

UniProt Annotations

Entry Information
Gene Namethromboxane A synthase 1 (platelet)
Protein EntryTHAS_HUMAN
UniProt IDP24557
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P24557-1; Sequence=Displayed; Name=2; IsoId=P24557-2; Sequence=VSP_047217; Note=No experimental confirmation available.; Name=3; IsoId=P24557-3; Sequence=VSP_054121; Name=4; IsoId=P24557-4; Sequence=VSP_054122, VSP_054123;
Catalytic Activity(5Z,13E)-(15S)-9-alpha,11-alpha-epidioxy-15- hydroxyprosta-5,13-dienoate = (5Z,13E)-(15S)-9-alpha,11-alpha- epoxy-15-hydroxythromboxa-5,13-dienoate.
CautionIt is uncertain whether Met-1 is the initiator. An alternative upstream Met is found in primates, but not in other mammals. {ECO:0000305}.
CofactorName=heme; Xref=ChEBI:CHEBI:30413;
DiseaseGhosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]: 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. {ECO:0000269|PubMed:18264100}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=Thromboxane synthetase deficiency has been detected in some patients with a bleeding disorder due to platelet dysfunction. {ECO:0000269|PubMed:6101498}.
Sequence CautionSequence=AAA60617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAA60618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAC01761.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAC01761.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99269.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99270.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99271.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99272.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99273.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99274.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99275.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99276.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99278.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99279.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH41157.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG58828.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW83934.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:8366093}; Multi-pass membrane protein {ECO:0000269|PubMed:8366093}.
SubunitMonomer.
Tissue SpecificityPlatelets, lung, kidney, spleen, macrophages and lung fibroblasts.
Web ResourceName=Cytochrome P450 Allele Nomenclature Committee; Note=CYP5A1 alleles; URL="http://www.cypalleles.ki.se/cyp5a1.htm";
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