Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6916
Gene name	Thromboxane A synthase 1
Gene symbol	TBXAS1
Synonyms (NCBI Gene)	BDPLT14CYP5CYP5A1GHOSALTHASTSTXASTXS
Chromosome	7
Chromosome location	7q34
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3735354	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs140005285	T>C	Pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant, 5 prime UTR variant
rs149988492	G>A,C,T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs199422114	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs199422116	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs199422117	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs760698812	GC>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs765686939	G>A,C	Likely-pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs794727053	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs1057518055	ACATCG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017567	hsa-miR-335-5p	Microarray	18185580
MIRT022110	hsa-miR-125b-5p	Other	20194440
MIRT438637	hsa-miR-34b-3p	Luciferase reporter assay	24115277
MIRT438637	hsa-miR-34b-3p	Luciferase reporter assay	24115277
MIRT1415366	hsa-miR-1275	CLIP-seq
MIRT1415367	hsa-miR-342-5p	CLIP-seq
MIRT1415368	hsa-miR-4260	CLIP-seq
MIRT1415369	hsa-miR-4290	CLIP-seq
MIRT1415370	hsa-miR-4664-5p	CLIP-seq
MIRT1415371	hsa-miR-4665-5p	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
EP300	Activation	14565864
ETS1	Repression	14586398
TP53	Repression	14586398

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001516	Process	Prostaglandin biosynthetic process	IEA
GO:0001516	Process	Prostaglandin biosynthetic process	IMP	11097184
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004796	Function	Thromboxane-A synthase activity	IBA
GO:0004796	Function	Thromboxane-A synthase activity	IDA	11297515
GO:0004796	Function	Thromboxane-A synthase activity	IEA
GO:0004796	Function	Thromboxane-A synthase activity	IMP	11097184
GO:0004796	Function	Thromboxane-A synthase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	8366093
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006690	Process	Icosanoid metabolic process	IDA	17459323
GO:0006690	Process	Icosanoid metabolic process	TAS
GO:0006693	Process	Prostaglandin metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0020037	Function	Heme binding	IDA	11097184
GO:0020037	Function	Heme binding	IEA
GO:0030644	Process	Intracellular chloride ion homeostasis	IEA
GO:0036134	Function	12-hydroxyheptadecatrienoic acid synthase activity	IEA
GO:0036134	Function	12-hydroxyheptadecatrienoic acid synthase activity	TAS
GO:0045471	Process	Response to ethanol	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0046457	Process	Prostanoid biosynthetic process	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0070542	Process	Response to fatty acid	IEA
GO:0106256	Function	Hydroperoxy icosatetraenoate dehydratase activity	IDA	17459323
GO:0106256	Function	Hydroperoxy icosatetraenoate dehydratase activity	IEA

MIM	HGNC	e!Ensembl
274180	11609	ENSG00000059377

P24557

Protein name

Thromboxane-A synthase (TXA synthase) (TXS) (EC 5.3.99.5) (Cytochrome P450 5A1) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152)

Protein 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:9873

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	44 → 308	Cytochrome P450	Domain
PF00067	p450	313 → 530	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. {ECO:0000269|PubMed:1714723, ECO:0000269|PubMed:7925341}.

Sequence

MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFR
QGFWESQMELRKLYGPLCGYYLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKSV
ADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACDLLLAHLKRYAESGDAFDIQR
CYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLA
RILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIV
RDVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATN
PDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAETLRMYPPAFRFTREAAQDCEV
LGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCL
GVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR

Sequence length

533

Interactions

View interactions

	KEGG		Reactome
	Arachidonic acid metabolism Metabolic pathways Platelet activation		Eicosanoids Synthesis of Prostaglandins (PG) and Thromboxanes (TX) Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ghosal hematodiaphyseal dysplasia	Pathogenic; Likely pathogenic	rs775012519, rs1203779981, rs794727053, rs199422114, rs199422116, rs760698812, rs763326515	RCV001332733 RCV002264889 RCV001542423 RCV004794331 RCV004794333 RCV000768381 RCV001523794
Thromboxane synthetase deficiency	Likely pathogenic	rs760698812	RCV000768381

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Conflicting classifications of pathogenicity	rs200663004	RCV001270607
Acute myeloid leukemia	Likely benign	rs369644265	RCV005925890
Cervical cancer	Benign; Likely benign	rs41275018	RCV005898688
Clear cell carcinoma of kidney	Benign; Likely benign	rs41275018	RCV005898689
Colon adenocarcinoma	Benign; Likely benign	rs41275018	RCV005898686
Gastric cancer	Uncertain significance	rs139976441	RCV005917771
Hepatocellular carcinoma	Benign	rs740204	RCV005915954
Intellectual disability	Conflicting classifications of pathogenicity	rs5766	RCV005626588
Lung cancer	Benign; Likely benign	rs41275018	RCV005898692
Malignant lymphoma, large B-cell, diffuse	Benign	rs740204	RCV005915955
Malignant tumor of esophagus	Benign; Likely benign	rs41275018	RCV005898687
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs55856189, rs368506589, rs13306049	RCV005921236 RCV005898685 RCV005903100
Sarcoma	Benign; Likely benign	rs41275018	RCV005898690
TBXAS1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs2286199, rs202122899, rs369644265, rs5762, rs143125111, rs572759693, rs3735354, rs372503987, rs146745109, rs61733586, rs867358737, rs980171168, rs144425677, rs41275018, rs6138, rs41311778, rs4528, rs199666672 View all (3 more)	RCV004756303 RCV003951153 RCV003923729 RCV003916336 RCV003395417 RCV003941321 RCV003955016 RCV003926725 RCV004756472 RCV003943508 RCV003418652 RCV003929571 RCV003974294 RCV003939696 RCV003927922 RCV003918102 RCV003938119 RCV003903168 RCV003940538
Thrombocytopenia	Conflicting classifications of pathogenicity	rs200663004	RCV001270607
Thymoma	Benign; Likely benign	rs41275018, rs13306049	RCV005898691 RCV005903101
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs41275018	RCV005898693

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	21388528, 24480048
Anemia	Associate	27156553, 33595912
Anemia Refractory	Associate	27156553
Arterial Occlusive Diseases	Associate	19403042
Asthma	Associate	32119686
Blood Platelet Disorders	Associate	14742249
Carcinoma Non Small Cell Lung	Associate	21388528, 24695790
Carotid Stenosis	Associate	28704403
Cerebral Infarction	Associate	19403042, 35923246
Colorectal Neoplasms	Associate	16709411
Dental Plaque	Associate	28704403
Down Syndrome	Associate	27293319
Ghosal Hematodiaphyseal Dysplasia	Associate	27156553, 33595912
Hypertension	Associate	32888289
Leukemia	Associate	1742485
Lymphoma Non Hodgkin	Associate	36945359
Melanoma Cutaneous Malignant	Associate	36466837
Metabolic Syndrome	Associate	35923246
Myopathies Structural Congenital	Associate	36275756
Neoplasms	Stimulate	14742249
Neoplasms	Associate	16709411, 21388528, 24480048
Ovarian Neoplasms	Associate	36528667
Preeclamptic toxemia	Associate	22493072
Prostatic Neoplasms	Associate	14742249
Prostatitis	Associate	14742249
Thrombocytopenia	Associate	33595912
Urinary Bladder Neoplasms	Associate	21983220, 36275756

TBXAS1 (thromboxane A synthase 1)