• Gene id: 6916

Gene Summary

• Gene Symbol: TBXAS1   Gene   UCSC   Ensembl
• Aliases: BDPLT14, CYP5, CYP5A1, GHOSAL, THAS, TS, TXAS, TXS
• Gene name: thromboxane A synthase 1
• Alternate names: thromboxane-A synthase, TXA synthase, cytochrome P450 5A1, cytochrome P450, family 5, subfamily A, polypeptide 1, platelet, cytochrome P450, subfamily V, thromboxane A synthase 1 (platelet),
• Gene location: 7q34 (139778241: 140020320)     Exons: 25     NC_000007.14
• Gene summary(Entrez): 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 prot
• OMIM: 164762

Protein Summary

• Protein general information: P24557  
  • Name: Thromboxane A synthase (TXA synthase) (TXS) (EC 5.3.99.5) (Cytochrome P450 5A1)
  • Length: 533  
  • Mass: 60518
  • Tissue specificity: Platelets, lung, kidney, spleen, macrophages and lung fibroblasts.
• Sequence:

  MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYG
  PLCGYYLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNE
  MVPLISQACDLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPI
  LVLLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIV
  RDVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFK
  EKHMAPEFCSLEEGLPYLDMVIAETLRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPET
  FNPERFTAEARQQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNG
  VYIKIVSR

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • STRING: ENSP00000389414
• Other Databases: GeneCards:  TBXAS1  Malacards:  TBXAS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004796	thromboxane-A synthase activity	IBA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0006690	icosanoid metabolic process	IDA	biological process
GO:0004796	thromboxane-A synthase activity	IDA	molecular function
GO:0004796	thromboxane-A synthase activity	IMP	molecular function
GO:0001516	prostaglandin biosynthetic process	IMP	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006693	prostaglandin metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0001516	prostaglandin biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004796	thromboxane-A synthase activity	IEA	molecular function
GO:0004796	thromboxane-A synthase activity	TAS	molecular function
GO:0006690	icosanoid metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0019371	cyclooxygenase pathway	TAS	biological process
GO:0036134	12-hydroxyheptadecatrienoic acid synthase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04611	Platelet activation
hsa00590	Arachidonic acid metabolism

Diseases

Associated diseases	References
Diaphyseal dysplasia with anemia	KEGG:H00490
Diaphyseal dysplasia with anemia	KEGG:H00490
Cerebral infarction	PMID:19403042
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq