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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBXAS1 Gene

protein-coding GIFtS: 71
GCID: GC07P139476

thromboxane A synthase 1 (platelet)

(Previous names: thromboxane A synthase 1 (platelet, cytochrome P450, subfamily...)

Explore 26 diseases affiliated with
TBXAS1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Thromboxane A Synthase 1 (Platelet)¹ ²		EC 5.3.99.5³ ⁸
CYP5¹ ² ³ ⁵		GHOSAL² ⁵
CYP5A1¹ ² ³		Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Subfamily V)¹
TXS¹ ² ³		BDPLT14²
THAS¹ ²		Cytochrome P450, Family 5, Subfamily A, Polypeptide 1²
TS¹ ²		Platelet, Cytochrome P450, Subfamily V²
TXAS¹ ²		Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Family 5, Subfamily A)²
Cytochrome P450 5A1² ³		Thromboxane-A Synthase²
TXA Synthase² ³

External Ids:	HGNC: 11609¹	Entrez Gene: 6916²	Ensembl: ENSG00000059377⁷	OMIM: 274180⁵	UniProtKB: P24557³

ORGUL members:
	NONCODE:n408329

Export aliases for TBXAS1 gene to outside databases

Previous GC identifers: GC07P137799 GC07P138808 GC07P138936 GC07P138982 GC07P139124 GC07P133772

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TBXAS1:

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 protein is considered a member of the cytochrome P450 superfamily on the basis of sequence

similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of

prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a

role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively

spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Aug 2008)

Gene Wiki entry for TBXAS1 (Thromboxane-A synthase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007914.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBXAS1 gene promoter:
STAT1 RP58 GATA-3 C/EBPalpha GATA-1 GATA-2 FOXO1a Sox9 PPAR-gamma2 FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TBXAS1 promoter sequence

Search SABiosciences Chromatin IP Primers for TBXAS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBXAS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q34-q35 Ensembl cytogenetic band: 7q34 HGNC cytogenetic band: 7q34-q35

TBXAS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBXAS1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P139476: view genomic region (about GC identifiers)

Start:	139,476,850 bp from pter	End:	139,720,125 bp from pter
Size:	243,276 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 138,807,008-139,048,964

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: THAS_HUMAN, P24557 (See protein sequence)

Recommended Name: Thromboxane-A synthase

Size: 533 amino acids; 60518 Da

Cofactor: Heme group

Subunit: Monomer

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

Caution: It is uncertain whether Met-1 is the initiator. An alternative upstream Met is found in primates, but not in

other mammals

Sequence caution: Sequence=AAC01761.1; Type=Erroneous gene model prediction; Sequence=AAC01761.1; Type=Erroneous

initiation; Sequence=AAF99269.1; Type=Erroneous initiation; Sequence=AAF99270.1; Type=Erroneous initiation;

Sequence=AAF99271.1; Type=Erroneous initiation; Sequence=AAF99272.1; Type=Erroneous initiation; Sequence=AAF99273.1;

Type=Erroneous initiation; Sequence=AAF99274.1; Type=Erroneous initiation; Sequence=AAF99275.1; Type=Erroneous

initiation; Sequence=AAF99276.1; Type=Erroneous initiation; Sequence=AAF99277.1; Type=Erroneous initiation;

Sequence=AAF99278.1; Type=Erroneous initiation; Sequence=AAF99279.1; Type=Erroneous initiation; Sequence=AAH41157.1;

Type=Erroneous initiation;

Secondary accessions: O14987 Q16844 Q8IUN1 Q9GZW4 Q9HD77 Q9HD78 Q9HD79 Q9HD80 Q9HD81 Q9HD82 Q9HD83

Q9HD84

Explore the universe of human proteins at neXtProt for TBXAS1: NX_P24557

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P24557

4/6 DME Specific Peptides for TBXAS1 (P24557) (see all 6)

GYYLGRRM

VVASVAFG

AVGALHHDP

FFRQGFWES

TBXAS1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001052.2 NP_001124438.1 NP_001159725.1 NP_001159726.1 NP_112246.2

ENSEMBL proteins:

ENSP00000388736 ENSP00000388612 ENSP00000338087 ENSP00000402536 ENSP00000415892

ENSP00000391567 ENSP00000411274 ENSP00000411326 ENSP00000412710 ENSP00000263552

ENSP00000389414 ENSP00000392361 ENSP00000392702 ENSP00000444626

Reactome Protein details: P24557
Human Recombinant Protein Products for TBXAS1:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
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	Novus Biologicals TBXAS1 Protein Novus Biologicals TBXAS1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TBXAS1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005788	endoplasmic reticulum lumen	--	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0016021	integral to membrane	IEA	--

TBXAS1 for ontologies About GeneDecksing

TBXAS1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TBXAS1
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	GenScript Custom Superior Antibodies Services for TBXAS1
	Novus Biologicals TBXAS1 Antibodies
	Abcam antibodies for TBXAS1
	Uscn Antibodies for TBXAS1
	Search ThermoFisher Antibodies for TBXAS1

Assay Products for TBXAS1:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TBXAS1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TBXAS1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TBXAS1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry P24557

ProtoNet protein and cluster: P24557

3 Blocks protein families:

IPB002401 E-class P450 group I signature

IPB002402 Group II E-class P450 signature

IPB008072 CYP3A P450 family signature

UniProtKB/Swiss-Prot: THAS_HUMAN, P24557

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: THAS_HUMAN, P24557

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

Genatlas biochemistry entry for TBXAS1:

thromboxane synthase,cytochrome p450 superfamily

Enzyme Number (IUBMB): EC 5.3.99.5¹ ²

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	IEA	--
GO:0004796	thromboxane-A synthase activity	IEA	--
GO:0005506	iron ion binding	IEA	--
GO:0009055	electron carrier activity	IEA	--
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	--

TBXAS1 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tbxas1):

hematopoietic system

homeostasis/metabolism

immune system

TBXAS1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Tbxas1^tm1Swl for TBXAS1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TBXAS1

miRNA Products:		OriGene 3'-UTR Clone (see all 5): TBXAS1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBXAS1
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TBXAS1 (see all 10):
		hsa-miR-301b hsa-miR-519c-3p hsa-miR-301a hsa-miR-519a hsa-miR-3666 hsa-miR-519b-3p hsa-miR-454 hsa-miR-4295

		SwitchGear 3'UTR luciferase reporter plasmid: TBXAS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBXAS1 (see all 7) OriGene shRNA RFP: TBXAS1 OriGene siRNA: TBXAS1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against TBXAS1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for TBXAS1
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBXAS1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBXAS1 (see all 7) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TBXAS1
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBXAS1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Arachidonic acid metabolism

Arachidonic acid metabolism	1.00	HETE and HPETE biosynthesis and metabolism	0.39
Arachidonic acid metabolism	0.42	Eicosanoid Synthesis	0.31
HETE and HPETE biosynthesis and metabolism	0.39

Synthesis of Prostaglandins (PG) and Thromboxanes (TX)

	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	1.00			Prostaglandin 2 biosynthesis and metabolism FM	0.44
	prostanoid biosynthesis	0.50			Prostaglandin 2 biosynthesis and metabolism FM	0.44

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Cytochrome P450 - arranged by substrate type

Cytochrome P450 - arranged by substrate type

1.00

Phase 1 - Functionalization of compounds

0.74

Eicosanoids

Eicosanoids

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for TBXAS1

	Prostaglandin 2 biosynthesis and metabolism FM
	HETE and HPETE biosynthesis and metabolism

2 GeneGo (Thomson Reuters) Pathways for TBXAS1

	HETE and HPETE biosynthesis and metabolism
	Prostaglandin 2 biosynthesis and metabolism FM

3 BioSystems Pathways for TBXAS1

	Eicosanoid Synthesis
	Prostaglandin Synthesis and Regulation
	prostanoid biosynthesis

5/8 Reactome Pathways for TBXAS1 (see all 8)

	Cytochrome P450 - arranged by substrate type
	Eicosanoids
	Metabolism
	Arachidonic acid metabolism
	Biological oxidations

3 PharmGKB Pathways for TBXAS1

	Celecoxib Pathway, Pharmacodynamics
	Phenytoin Pathway, Pharmacokinetics
	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

2 Kegg Pathways (Kegg details for TBXAS1):

	Arachidonic acid metabolism
	Metabolic pathways

TBXAS1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TBXAS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/9 Interacting proteins for TBXAS1 (P24557^{2, 3} ENSP00000263552⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAZ	P63104³	I2D: score=1
HPGDS	ENSP00000295256⁴	STRING: ENSP00000295256
PTGDS	ENSP00000360687⁴	STRING: ENSP00000360687
PTGES	ENSP00000342385⁴	STRING: ENSP00000342385
PTGES2	ENSP00000345341⁴	STRING: ENSP00000345341

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001516	prostaglandin biosynthetic process	IEA	--
GO:0006690	icosanoid metabolic process	TAS	--
GO:0006692	prostanoid metabolic process	--	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0030644	cellular chloride ion homeostasis	--	--

TBXAS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TBXAS1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for TBXAS1

Compounds for TBXAS1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Ozagrel hydrochloride	Selective thromboxane A2 synthetase inhibitor	[74003-18-2]

4 HMDB Compounds for TBXAS1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Prostaglandin H2	Prostaglandin-H2 (see all 27)	42935-17-1	--
Thromboxane	Thromboxane A2	66719-58-2	--
Thromboxane A2	(1S-(1alpha,3alpha,3R*),4beta(Z),5alpha)-7-(3-(3-hydroxy-1-octenyl)-2,6-dioxabicyclo(3.1.1)hept-4-yl)-5-Heptenoate (see all 25)	57576-52-0	--

2 DrugBank Compounds for TBXAS1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Ridogrel	--	110140-89-1	target	inhibitor	8376914 11856082 8313547 10848666 10592235 11270983
Dazoxiben	--	--	target	inhibitor	17139284 11752352 17016423 10592235

10/22 Novoseek chemical compound relationships for TBXAS1 gene (see all 22) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
thromboxane	89.8	50	16250911 (3), 8325653 (2), 16134166 (2), 7925341 (2) (see all 38)
thromboxane a2	89.8	79	8325653 (2), 11006279 (2), 19403042 (2), 8306107 (2) (see all 38)
prostaglandin-h2	89	20	11006279 (3), 18590695 (3), 16297851 (2), 16134166 (1) (see all 11)
pgh2	85.7	15	11297515 (4), 7700866 (2), 7488650 (1), 8964509 (1) (see all 8)
12-hydroxy-5,8,10-heptadecatrienoic acid	85.6	3	12859980 (2)
prostacyclin	70.5	21	11006279 (1), 12154203 (1), 18590695 (1), 19748489 (1) (see all 13)
pgd2	61	1	10359019 (1)
txb2	59.4	2	8444174 (1), 10359019 (1)
arachidonic acid	58.9	10	9063093 (1), 7488650 (1), 8444174 (1), 18264100 (1) (see all 7)
clotrimazole	43.9	2	11297515 (1), 9873013 (1)

Search CenterWatch for drugs/clinical trials and news about TBXAS1 / THAS

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TBXAS1 gene (5 alternative transcripts):

NM_001061.4 NM_001130966.2 NM_001166253.1 NM_001166254.1 NM_030984.3

Unigene Cluster for TBXAS1:

Thromboxane A synthase 1 (platelet)

Hs.520757 [show with all ESTs]

Unigene Representative Sequence: NM_001130966

18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):

ENST00000493340 ENST00000462053 ENST00000425687 ENST00000474763 ENST00000481440

ENST00000438104 ENST00000336425 ENST00000473948 ENST00000448866 ENST00000422328

ENST00000492560 ENST00000455353 ENST00000458722 ENST00000411653 ENST00000476637

ENST00000462275(uc011kqu.2) ENST00000414041 ENST00000469630

miRNA Products:		OriGene 3'-UTR Clone (see first 1): TBXAS1 (NM_001061 NM_001130966 NM_001166253 NM_001166254 NM_030984 ) Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBXAS1
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TBXAS1 (see all 10):
		hsa-miR-301b hsa-miR-519c-3p hsa-miR-301a hsa-miR-519a hsa-miR-3666 hsa-miR-519b-3p hsa-miR-454 hsa-miR-4295

		SwitchGear 3'UTR luciferase reporter plasmid: TBXAS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against TBXAS1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBXAS1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBXAS1 (see all 7) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): TBXAS1 (NM_030984)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBXAS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBXAS1

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TBXAS1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBXAS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBXAS1

Additional cDNA sequence:

AK223466.1 AK296069.1 AK301049.1 AK301164.1 AK303440.1 BC014117.2 BC041157.1 M74055.1

M80646.1 M80647.1 NR_029394.1 S60133.1

15 DOTS entries:

DT.97782814 DT.99992833 DT.455401 DT.121056733 DT.100022756 DT.121643591 DT.100780064 DT.95284796

DT.91644383 DT.100017058 DT.100710582 DT.40244924 DT.101967262 DT.40231588 DT.95282732

24/135 AceView cDNA sequences (see all 135):

BC041157 AI872272 BQ101037 BQ030101 AU099213 CR625096 CD367977 BQ027613

AU076426 BQ710761 AW615299 BU616000 AA907907 AL551161 CD368493 BM673654

BC014117 BG255550 BM672386 CB117531 CB121763 CA437040 BG326666 BX389626

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TBXAS1 (see all 7) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14a	·	14b
SP1:													-		-										-								-
SP2:													-		-										-								-						-
SP3:													-
SP4:															-
SP5:													-		-		-

ECgene alternative splicing isoforms for TBXAS1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TBXAS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAGGATAAG

About this image

TBXAS1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TBXAS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBXAS1

SOURCE GeneReport for Unigene cluster: Hs.520757

UniProtKB/Swiss-Prot: THAS_HUMAN, P24557

Tissue specificity: Platelets, lung, kidney, spleen, macrophages and lung fibroblasts

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBXAS1 gene from 7/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TBXAS1¹	thromboxane A synthase 1 (platelet)	65.94(n) 64.34(a)		418101 XM_416334.3 XP_416334.3
lizard (Anolis carolinensis)	Reptilia	TBXAS1⁶	--	71(a)	1 ↔ 1	5(17156573-17160003)
African clawed frog (Xenopus laevis)	Amphibia	BC059313.1²	--	74.44(n)		BC059313.1
zebrafish (Danio rerio)	Actinopterygii	wufk19d08²	Danio rerio clone RK064A2E01 thromboxane A synthase more	73.62(n)		AY398422.1
fruit fly (Drosophila melanogaster)	Insecta	Cyp9c1³	cytochrome P450	29(a) (best of 14)		2 60D10 --
worm (Caenorhabditis elegans)	Secernentea	T10B9.7³	cytochrome P450	29(a) (best of 7)		II(9783728-9787263) --
rice (Oryza sativa)	Liliopsida	Os02g0221900¹	hypothetical protein	46.03(n) 30.44(a)		4328761 NM_001052860.1 NP_001046325.1

ENSEMBL Gene Tree for TBXAS1 (if available)
TreeFam Gene Tree for TBXAS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TBXAS1 gene

CYP4F22² CYP4F3² CYP4F2² CYP4F11² CYP3A4² CYP3A43² CYP46A1² CYP4A22²

CYP4V2² ENSG00000225607² CYP3A7² CYP4B1² CYP3A5² CYP4A11² CYP4Z1² CYP4X1²

CYP4F12²

7 SIMAP similar genes for TBXAS1 using alignment to 14 protein entries: THAS_HUMAN (see all proteins):

thromboxane synthase CYP3A5 CYP3A43 CYP3A43/CYP3A4 CYP3A4 CYP3A7

CYP2E1

TBXAS1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140005285^1,2	C	pathogenic	138939974(+)	`CTATCT/CTGGTC`	11	/P /L	nc-transcript-variantmis¹		1		NA	4552
rs199422116^1,2	C	pathogenic	139046386(+)	`GCCTCA/G/TGGGTG`	15	R G W	mis¹ int¹		1		EU	1305
rs199422114^1,2	C	pathogenic	139046405(+)	`GCTGCC/TTGAGG`	10	P L	nc-transcript-variantmis¹ int¹		0	--	--	--	--
rs71170933^1,2	C	--	133996874(+)	`ATGGA-/GGTTTT`	6	--	int¹		2		NA CSA	4
rs9690019^1,2	H	--	138805291(+)	`CCTCGT/GGCCCT`	4	--	us2k¹ int¹		4		NS EA	418
rs10278565^1,2	C	--	138806185(+)	`AGACCC/TTGCCG`	4	--	us2k¹ int¹		0	--	--	--	--
rs1860509^1,2	C	--	138807136(-)	`GCGCGA/CACCCT`	4	--	ut5¹ us2k¹ tfbs³		4		CSA WA NA EA	359
rs75846610^1,2		--	138807184(+)	`CCCACG/TCTGGC`	4	--	ut5¹ us2k¹		2		CSA WA	120
rs79473153^1,2		--	138807647(+)	`GGAAGA/GCTTGT`	4	--	int¹ us2k¹		1		EA	120
rs60526073^1,2	C,F	--	138807725(+)	`TGCAGC/TGGAAG`	4	--	int¹ us2k¹		3		WA CSA	122

HapMap Linkage Disequilibrium report for TBXAS1 (139476850 - 139720125 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TBXAS1
1 Indel: 12970
Human Gene Mutation Database (HGMD): TBXAS1

Locus Specific Mutation Databases (LSDB): TBXAS1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TBXAS1 for disorders           About GeneDecksing

OMIM gene information: 274180
OMIM disorders: 231095
UniProtKB/Swiss-Prot: THAS_HUMAN, P24557

Defects in TBXAS1 are the cause of Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]. 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) [MIM:274180]. It is

characterized by hemorrhagic diathesis

20/26 diseases for TBXAS1 (see all 26): About MalaCards

thromboxane synthase deficiency autonomic neuropathy breast cancer susceptibility epithelial ovarian cancer

bleeding disorder pituitary adenoma myocardial infarction cystic fibrosis

cerebral infarction breast cancer cholesterol ovarian cancer

neuropathy prostate cancer sinusitis adenoma

fibrosis cerebritis prostatitis osteoarthritis

9 Novoseek disease relationships for TBXAS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
erythroleukemia	33.4	1	1633871 (1)
coagulopathy	13.1	1	8325653 (1)
renal disease	0.28	1	7878751 (1)
cardiovascular diseases	0	2	8325653 (1), 8964509 (1)
adenocarcinoma	0	1	16357168 (1)
metastasis	0	4	16357168 (1), 16627914 (1), 17603559 (1)
tumors	0	13	16627914 (3), 16357168 (2), 16709411 (1), 17603559 (1) (see all 5)
prostate cancer	0	1	14742249 (1)
cancer	0	3	16709411 (3)

Human Genome Epidemiology (HuGE) Navigator: TBXAS1 (20 documents)

Export disorders for TBXAS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TBXAS1 gene, integrated from 9 sources (see all 130):
(articles sorted by number of sources associating them with TBXAS1)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning of human platelet thromboxane A synthase. (PubMed id 1714723)^{1, 2, 3, 9} Yokoyama C.... Tanabe T. (1991)
Amino-terminal topology of thromboxane synthase in the endoplasmic reticulum. (PubMed id 8366093)^{1, 2, 9} Ruan K.H.... Kulmacz R.J. (1993)
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). (PubMed id 18264100)^{1, 2, 9} Genevieve D.... Cormier-Daire V. (2008)
Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. (PubMed id 8964509)^{1, 3, 9} Baek S.J....Shen R.F. (1996)
Characterization of the human gene (TBXAS1) encoding thromboxane synthase. (PubMed id 7925341)^{1, 2, 9} Miyata A....Tanabe T. (1994)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Catalog of 680 variations among eight cytochrome p450 (CYP) genes, nine esterase genes, and two other genes in the Japanese population. (PubMed id 12721789)^{1, 2} Saito S....Nakamura Y. (2003)
Identification of genetic variants in the human thromboxane synthase gene (CYP5A1). (PubMed id 11465543)^{1, 2} Chevalier D.... Broly F. (2001)
Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)^{1, 2} Cargill M....Lander E.S. (1999)
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. (PubMed id 10391210)^{1, 2} Halushka M.K.... Chakravarti A. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6916	HGNC: 11609	AceView: TBXAS1	Ensembl:ENSG00000059377	euGenes: HUgn6916
ECgene: TBXAS1	Kegg: 6916	H-InvDB: TBXAS1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TBXAS1	Pharmacogenomics, SNPs, Pathways
Cytochrome P450 Allele Nomenclature Committee	http://www.cypalleles.ki.se/cyp5a1.htm

Intellectual Property for TBXAS1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TBXAS1 gene:
Search GeneIP for patents involving TBXAS1

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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thromboxane A synthase 1 (platelet)

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thromboxane A synthase 1 (platelet)

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