TBXAS1
entrez
6916
canonical
uniprot
P24557
canonical
ensembl
ENSG00000059377
resolver
ensp
ENSP00000338087
resolver
ensp
ENSP00000388736
resolver
ensp
ENSP00000391567
resolver
ensp
ENSP00000402536
resolver
ensp
ENSP00000411274
resolver
ensp
ENSP00000411326
resolver
enst
ENST00000455353
resolver
genesymbol
TBXAS1
resolver
genesymbol_syn
CYP5
resolver
genesymbol_syn
CYP5A1
resolver
genesymbol_syn
TXAS
resolver
hgnc
HGNC:11609
resolver
uniprot
A0A498U6I9
resolver
uniprot
B4DJG6
resolver
uniprot
B4DVP1
resolver
uniprot
E7EMU9
resolver
uniprot
E7EP08
resolver
uniprot
E7ESB5
resolver
uniprot
O14987
resolver
uniprot
Q16843
resolver
uniprot
Q16844
resolver
uniprot
Q8IUN1
resolver
uniprot
Q96CN2
resolver
uniprot
Q9GZW4
resolver
uniprot
Q9HD77
resolver
uniprot
Q9HD78
resolver
uniprot
Q9HD79
resolver
uniprot
Q9HD80
resolver
uniprot
Q9HD81
resolver
uniprot
Q9HD82
resolver
uniprot
Q9HD83
resolver
uniprot
Q9HD84
resolver
uniprot_entry
A0A498U6I9_HUMAN
resolver
uniprot_entry
B4DVP1_HUMAN
resolver
uniprot_entry
THAS_HUMAN
resolver
uniprot_sec
B4DJG6
resolver
uniprot_sec
E7EMU9
resolver
uniprot_sec
E7EP08
resolver
uniprot_sec
E7ESB5
resolver
uniprot_sec
O14987
resolver
uniprot_sec
Q16843
resolver
uniprot_sec
Q16844
resolver
uniprot_sec
Q8IUN1
resolver
uniprot_sec
Q96CN2
resolver
uniprot_sec
Q9GZW4
resolver
uniprot_sec
Q9HD77
resolver
uniprot_sec
Q9HD78
resolver
uniprot_sec
Q9HD79
resolver
uniprot_sec
Q9HD80
resolver
uniprot_sec
Q9HD81
resolver
uniprot_sec
Q9HD82
resolver
uniprot_sec
Q9HD83
resolver
uniprot_sec
Q9HD84
resolver
amino_acid_sequence
MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGYYLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACDLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAETLRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR
uniprot
proteins
disease_involvement
DISEASE: Ghosal 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 variants affecting the gene represented in this entry.; DISEASE: Note=Thromboxane synthetase deficiency has been detected in some patients with a bleeding disorder due to platelet dysfunction. {ECO:0000269|PubMed:6101498}.
uniprot
proteins
ec_number
4.2.1.152
uniprot
proteins
ec_number
5.3.99.5
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of prostaglandin H2 (PGH2) to thromboxane A2 (TXA2), a potent inducer of blood vessel constriction and platelet aggregation (PubMed:11097184, PubMed:11297515, PubMed:22735388, PubMed:24009185, PubMed:8436233, PubMed:9873013). Also cleaves PGH2 to 12-hydroxy-heptadecatrienoicacid (12-HHT) and malondialdehyde, which is known to act as a mediator of DNA damage. 12-HHT and malondialdehyde are formed stoichiometrically in the same amounts as TXA2 (PubMed:11297515, PubMed:22735388, PubMed:9873013). Additionally, displays dehydratase activity, toward (15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate (15(S)-HPETE) producing 15-KETE and 15-HETE (PubMed:17459323). {ECO:0000269|PubMed:11097184, ECO:0000269|PubMed:11297515, ECO:0000269|PubMed:17459323, ECO:0000269|PubMed:22735388, ECO:0000269|PubMed:24009185, ECO:0000269|PubMed:8436233, ECO:0000269|PubMed:9873013}.
uniprot
proteins
mass_dalton
60518
uniprot
proteins
mutagenesis
MUTAGEN 109; /note="N->I: Loss of thromboxane-A synthase activity. Decreased heme-binding."; /evidence="ECO:0000269|PubMed:11097184"; MUTAGEN 132; /note="W->F: Loss of thromboxane-A synthase activity. Decreased heme-binding."; /evidence="ECO:0000269|PubMed:11097184"; MUTAGEN 134; /note="E->D: Does not affect thromboxane-A synthase activity. Does not affect heme-binding."; /evidence="ECO:0000269|PubMed:11097184"; MUTAGEN 136; /note="R->A,K: Loss of thromboxane-A synthase activity. Decreased heme-binding."; /evidence="ECO:0000269|PubMed:11097184"; MUTAGEN 409; /note="R->G: Does not affect thromboxane-A synthase activity. Does not affect heme-binding."; /evidence="ECO:0000269|PubMed:11097184"; MUTAGEN 412; /note="R->K: Loss of thromboxane-A synthase activity. Decreased heme-binding."; /evidence="ECO:0000269|PubMed:11097184"; MUTAGEN 414; /note="A->V: Does not affect thromboxane-A synthase activity. Does not affect heme-binding."; /evidence="ECO:0000269|PubMed:11097184"; MUTAGEN 477; /note="R->A: Loss of thromboxane-A synthase activity. Decreased heme-binding."; /evidence="ECO:0000269|PubMed:11097184"; MUTAGEN 479; /note="C->S,H,Y: Loss of thromboxane-A synthase activity. Decreased heme-binding."; /evidence="ECO:0000269|PubMed:18264100
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid metabolism. {ECO:0000305}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10391210
uniprot
proteins
pubmed
11097184
uniprot
proteins
pubmed
11297515
uniprot
proteins
pubmed
11465543
uniprot
proteins
pubmed
12721789
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
1714723
uniprot
proteins
pubmed
1730669
uniprot
proteins
pubmed
17459323
uniprot
proteins
pubmed
18264100
uniprot
proteins
pubmed
2043115
uniprot
proteins
pubmed
2195994
uniprot
proteins
pubmed
22735388
uniprot
proteins
pubmed
24009185
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
6101498
uniprot
proteins
pubmed
7925341
uniprot
proteins
pubmed
8366093
uniprot
proteins
pubmed
8436233
uniprot
proteins
pubmed
9873013
uniprot
proteins
sequence_length
533
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:8366093}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 11..31; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 76..96; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 224..244; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 336..356; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins