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TBXAS1 Gene

protein-coding GIFtS: 71
GCID: GC07P139476

Thromboxane A Synthase 1 (Platelet)

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

See TBXAS1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Thromboxane A Synthase 1 (Platelet)¹ ²		Polypeptide 1¹
CYP5² ³ ⁵		Subfamily A¹
Cytochrome P450 5A1² ³		Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Subfamily V)¹
CYP5A1² ³		THAS²
TXS² ³		TS²
TXA Synthase² ³		TXAS²
EC 5.3.99.5³ ⁸		Cytochrome P450, Family 5, Subfamily A, Polypeptide 1²
BDPLT14² ⁵		Platelet, Cytochrome P450, Subfamily V²
GHOSAL² ⁵		Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Family 5, Subfamily A)²
Cytochrome P450¹		Thromboxane-A Synthase²
Family 5¹

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

Export aliases for TBXAS1 gene to outside databases

Previous GC identifers: GC07P137799 GC07P138808 GC07P138936 GC07P138982 GC07P139124 GC07P133772

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

Entrez Gene summary for TBXAS1 Gene:

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)

GeneCards Summary for TBXAS1 Gene:

TBXAS1 (thromboxane A synthase 1 (platelet)) is a protein-coding gene. Diseases associated with TBXAS1 include ghosal hematodiaphyseal syndrome, and thromboxane synthase deficiency. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP4F22.

Gene Wiki entry for TBXAS1 (Thromboxane-A synthase) Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000007.13 NC_018918.2 NT_007933.16

Regulatory elements:

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 Chromatin IP Primers for TBXAS1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TBXAS1

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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

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: E7ESB5 O14987 Q16844 Q8IUN1 Q96CN2 Q9GZW4 Q9HD77 Q9HD78 Q9HD79 Q9HD80

Q9HD81 Q9HD82 Q9HD83 Q9HD84

Alternative splicing: 2 isoforms: P24557-1 P24557-2 (No experimental confirmation available)

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

Explore proteomics data for TBXAS1 at MOPED

6 DME Specific Peptides for TBXAS1 (P24557) (see first 4)

GYYLGRRM	VVASVAFG	AVGALHHDP	FFRQGFWES
LIRNVIALRD	ETLRMYPPAFRFTR

See TBXAS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

TBXAS1 Human Recombinant Protein Products:

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	Novus Biologicals TBXAS1 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for TBXAS1
	Search GeneTex for Proteins for TBXAS1
	antibodies-online proteins for TBXAS1 (2 products)
	antibodies-online peptides for TBXAS1

TBXAS1 Antibody Products:

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	antibodies-online antibodies for TBXAS1 (53 products)

TBXAS1 Assay Products:

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	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for TBXAS1
	antibodies-online kits for TBXAS1 (9 products)

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

HGNC Gene Families:

CYP: Cytochrome P450s

IUPHAR Guide to PHARMACOLOGY protein family classification: CYP5A1

CYP5, CYP7 and CYP8 families

3 InterPro protein domains:

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 domains:

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

Find genes that share domains with TBXAS1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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 molecular function terms: 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:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	--
GO:0020037	heme binding	IEA	--

Find genes that share ontologies with TBXAS1 About GenesLikeMe

Phenotypes:
4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tbxas1):

hematopoietic system

homeostasis/metabolism

immune system

no phenotypic analysis

Find genes that share phenotypes with TBXAS1 About GenesLikeMe

Animal Models:
MGI mouse knock-outs for TBXAS1: Tbxas1^tm1Swl Tbxas1^tm1Okun

genOway: Develop your customized and physiologically relevant rodent model for TBXAS1

miRNA Products:		miRTarBase miRNAs that target TBXAS1: hsa-mir-335-5p (MIRT017567)

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		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for TBXAS1
		Predesigned siRNA for gene silencing in human, mouse, rat TBXAS1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TBXAS1

Clone Products:		OriGene clones in human, mouse for TBXAS1 (see all 31) OriGene ORF clones in mouse, rat for TBXAS1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBXAS1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

THAS_HUMAN, P24557: Endoplasmic reticulum membrane; Multi-pass membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endoplasmic reticulum	5
extracellular	2
plasma membrane	2
nucleus	1

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016021	integral component of membrane	IEA	--

Find genes that share ontologies with TBXAS1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for TBXAS1 About (see all 9)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Arachidonic acid metabolism

Arachidonic acid metabolism	0.41	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	0.00
Arachidonic acid metabolism	0.40	C20 prostanoid biosynthesis	0.00
HETE and HPETE biosynthesis and metabolism	0.33

Metabolism

	Metabolism	0.38			Metabolism of lipids and lipoproteins	0.37
	Metabolic pathways	0.38

Biological oxidations

Biological oxidations

0.56

Phenytoin Pathway, Pharmacokinetics

0.00

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	0.75			Eicosanoids	0.00
	Phase 1 - Functionalization of compounds	0.75

Prostaglandin Synthesis and Regulation

Prostaglandin Synthesis and Regulation

Find genes that share SuperPaths with TBXAS1 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

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
	C20 prostanoid biosynthesis

2 Reactome Pathways for TBXAS1

	Eicosanoids
	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)

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

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for TBXAS1
Interactions:

GeneGlobe Interaction Network for TBXAS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

Selected Interacting proteins for TBXAS1 (P24557^{2, 3} ENSP00000263552⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

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): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006690	icosanoid metabolic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0019369	arachidonic acid metabolic process	TAS	--
GO:0019371	cyclooxygenase pathway	TAS	--
GO:0030644	cellular chloride ion homeostasis	--	--

Find genes that share ontologies with TBXAS1 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for TBXAS1

Browse compounds at ApexBio

Browse Tocris compounds for TBXAS1 (THAS)

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

Selected Novoseek inferred 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)

Find genes that share compounds with TBXAS1 About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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

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

ENST00000493340 ENST00000462053 ENST00000473948 ENST00000425687 ENST00000474763

ENST00000481440 ENST00000438104 ENST00000336425 ENST00000448866 ENST00000422328

ENST00000492560 ENST00000455353 ENST00000458722 ENST00000411653 ENST00000476637

ENST00000462275(uc011kqu.2) ENST00000414041 ENST00000469630

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		Selected qRT-PCR Assays for microRNAs that regulate TBXAS1 (see all 10):
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		SwitchGear 3'UTR luciferase reporter plasmid: TBXAS1 3' UTR sequence

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		QuantiFast Probe-based Assays in human, mouse, rat TBXAS1

Additional mRNA 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

Selected AceView cDNA sequences (see all 135):

CB117531 AL551161 CB121763 AA907907 BG326666 CA437040 BM673654 CD368493

BC014117 BG255550 BM672386 CD367977 AU099213 AW615299 BC041157 CR625096

BQ030101 BU616000 AI872272 BQ027613 BQ101037 AU076426 BQ710761 AI738743

GeneLoc Exon Structure

Selected 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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, 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 <intensity>^2/3
CGAP TAG: CAAGGATAAG

About this image

TBXAS1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 5) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Paraxial Mesoderm (Gastrulation Derivatives)
PureStem 7PEND24, NCr-fac & Meso-prx Progenitor

Neural Crest (Gastrulation Derivatives)
PureStem 7PEND24, NCr-fac & Meso-prx Progenitor

Bone (Muscoskeletal System)
Bone Marrow

Spleen (Hematopoietic System)

TBXAS1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

TBXAS1 Protein Expression

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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(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 Selected species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tbxas1^{1 , 5}	thromboxane A synthase 1, platelet^{1, 5}	82.86(n)¹ 81.61(a)¹		6 (17.85 cM)⁵ 21391¹ NM_011539.3¹ NP_035669.3¹ 38875404⁵
chicken (Gallus gallus)	Aves	TBXAS1¹	thromboxane A synthase 1 (platelet)	64.89(n) 62.36(a)		418101 XM_416334.4 XP_416334.4
lizard (Anolis carolinensis)	Reptilia	TBXAS1⁶	thromboxane A synthase 1 (platelet)	59(a)	1 ↔ 1	5(16882913-17160003)
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 Cyp6a23¹	cytochrome P450³ Cyp6a23¹	29(a) (best of 14)³ 46.22(n)¹ 32.89(a)¹		2 60D10³ 36661¹ NM_137156.2¹ NP_611000.2¹
worm (Caenorhabditis elegans)	Secernentea	T10B9.7³	cytochrome P450	29(a) (best of 7)		II(9783728-9787263) --
thale cress (Arabidopsis thaliana)	eudicotyledons	CYP711A1¹	CYP711A1	45.8(n) 31.76(a)		817157 NM_128175.3 NP_565617.2
rice (Oryza sativa)	Liliopsida	Os01g0701500¹	Os01g0701500	45.76(n) 31.95(a)		4326929 NM_001050524.2 NP_001043989.2

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,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for TBXAS1 gene

CYP4F22² CYP4F3² CYP4F2² CYP4F11² CYP3A43² CYP3A4² CYP4A22² CYP3A7²

CYP4V2² CYP4B1² CYP3A5² CYP4A11² CYP4Z1² CYP4F12² CYP4X1²

7 SIMAP similar genes for TBXAS1 using alignment to 12 protein entries: THAS_HUMAN (see all proteins):

thromboxane synthase CYP3A5 CYP3A43 CYP3A43/CYP3A4 CYP3A4 CYP3A7

CYP2E1

Find genes that share paralogs with TBXAS1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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
				--	--	--		--	--
VAR_044389⁴		Ghosal hematodiaphyseal dysplasia (GHDD)⁴	--	see VAR_044389	2	G W	mis⁴		0	--	--	--	--
VAR_036294⁴		A breast cancer sample⁴	--	see VAR_036294	2	R W	mis⁴		0	--	--	--	--
VAR_044390⁴		Ghosal hematodiaphyseal dysplasia (GHDD)⁴	--	see VAR_044390	2	L P	mis⁴		0	--	--	--	--
VAR_044388⁴		Ghosal hematodiaphyseal dysplasia (GHDD)⁴	--	see VAR_044388	2	R Q	mis⁴		0	--	--	--	--
VAR_044386⁴		Ghosal hematodiaphyseal dysplasia (GHDD)⁴	--	see VAR_044386	2	L P	mis⁴		0	--	--	--	--
rs140005285^1,2	C	pathogenic¹	142973741(+)	`CTATCT/CTGGTC`	11	/P /L	mis¹		1		NA	4552
rs199422117^1,2	C	pathogenic¹	143078122(+)	`CACACG/AGGAGG`	11	/Q /R	mis¹		1		EU	1323
rs199422116^1,2	C	pathogenic¹	143080140(+)	`GCCTCA/G/TGGGTG`	10	G W	mis¹ int¹		1		EU	1305
rs199422114^1,2	C	pathogenic¹	143080159(+)	`GCTGCC/TTGAGG`	10	P L	mis¹ int¹		0	--	--	--	--
rs149603660^1,2	C	--	133803236(+)	`TAGAT-/GATAG ATAGATAGATAG`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TBXAS1 (139476850 - 139720125 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for TBXAS1 (see all 13): About this table

Variant ID	Type	Subtype	PubMed ID
esv2735236	CNV	Deletion	23290073
esv2676633	CNV	Deletion	23128226
esv2735212	CNV	Deletion	23290073
esv2735234	CNV	Deletion	23290073
esv2671572	CNV	Deletion	23128226
esv2735235	CNV	Deletion	23290073
nsv365428	CNV	Loss	16902084
nsv464733	CNV	Loss	19166990
nsv831156	CNV	Loss	17160897
nsv889244	CNV	Loss	21882294

The Human Cytochrome P450 Allele Nomenclature Database: TBXAS1

Human Gene Mutation Database (HGMD): TBXAS1
Locus Specific Mutation Databases (LSDB): TBXAS1

Site Specific Mutation Identification with 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, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 274180
OMIM disorders: 231095 614158
UniProtKB/Swiss-Prot: THAS_HUMAN, P24557

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. Note=The disease is caused by mutations affecting the gene represented in this entry

Note=Thromboxane synthetase deficiency has been detected in some patients with a bleeding disorder due to

platelet dysfunction

3 diseases for TBXAS1:
About MalaCards

ghosal hematodiaphyseal syndrome thromboxane synthase deficiency aregenerative anemia

1 inferred disease relationship from the University of Copenhagen DISEASES database for TBXAS1:

Hypertension

Find genes that share disorders with TBXAS1 About GenesLikeMe

9 Novoseek inferred 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)

Genetic Association Database (GAD): TBXAS1
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 10 sources (see all 139):
(articles sorted by number of sources associating them with TBXAS1)

Molecular cloning of human platelet thromboxane A synthase. (PubMed id 1714723)^{1, 2, 3, 9} Yokoyama C.... Tanabe T. (Biochem. Biophys. Res. Commun. 1991)
Amino-terminal topology of thromboxane synthase in the endoplasmic reticulum. (PubMed id 8366093)^{1, 2, 9} Ruan K.H.... Kulmacz R.J. (J. Biol. Chem. 1993)
Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population. (PubMed id 19403042)^{1, 4, 9} Park S.A....Shin H.D. (BMB Rep 2009)
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). (PubMed id 18264100)^{1, 2, 9} Genevieve D.... Cormier-Daire V. (Nat. Genet. 2008)
Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. (PubMed id 8964509)^{1, 3, 9} Baek S.J....Shen R.F. (Gene 1996)
Characterization of the human gene (TBXAS1) encoding thromboxane synthase. (PubMed id 7925341)^{1, 2, 9} Miyata A....Tanabe T. (Eur. J. Biochem. 1994)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
[Association of the Pro1770Leu polymorphism in CYP5A1 gene with myocardial infarction in Uigur population of Xinjiang]. (PubMed id 20931532)^{1, 4} Wang B.Z....Yu Z.X. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010)
Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)^{1, 4} Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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:
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GeneCards and IP:
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TBXAS1 Gene

Thromboxane A Synthase 1 (Platelet)

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TBXAS1 (Gene Symbol)
Thromboxane A Synthase 1 (Platelet)
CYP5
Cytochrome P450 5A1
CYP5A1
TXS
TXA Synthase
EC 5.3.99.5
BDPLT14
GHOSAL
Cytochrome P450
Family 5
Polypeptide 1
Subfamily A
Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Subfamily V)
THAS
TS
TXAS
Cytochrome P450, Family 5, Subfamily A, Polypeptide 1
Platelet, Cytochrome P450, Subfamily V
Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Family 5, Subfamily A)
Thromboxane-A Synthase

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TBXAS1 Gene

Thromboxane A Synthase 1 (Platelet)

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