TBXAS1 Gene(Protein Coding)

Thromboxane A Synthase 1

GCID:: GC07P139777

GIFtS:: 59

Genes Participants

Aliases for TBXAS1 Gene

Thromboxane A Synthase 1 ² ³ ⁵
Cytochrome P450, Family 5, Subfamily A, Polypeptide 1 ² ³
Thromboxane A Synthase 1 (Platelet) ² ³
Cytochrome P450 5A1 ³ ⁴
TXA Synthase ³ ⁴
EC 5.3.99.5 ⁴ ⁵⁶
CYP5A1 ³ ⁴
CYP5 ³ ⁴
TXS ³ ⁴

Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Subfamily V) ²
Platelet, Cytochrome P450, Subfamily V ³
Thromboxane-A Synthase ³
BDPLT14 ³
GHOSAL ³
THAS ³
TXAS ³
TS ³

External Ids for TBXAS1 Gene

HGNC: 11609
Entrez Gene: 6916
Ensembl: ENSG00000059377
OMIM: 274180
UniProtKB: P24557

Previous GeneCards Identifiers for TBXAS1 Gene

GC07P137799
GC07P138808
GC07P138936
GC07P138982
GC07P139124
GC07P139476
GC07P133772

Search aliases for TBXAS1 gene in PubMed and other databases

Summaries for TBXAS1 Gene

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) is a Protein Coding gene. Diseases associated with TBXAS1 include Ghosal Hematodiaphyseal Dysplasia and Bleeding Disorder, Platelet-Type, 14. Among its related pathways are Platelet activation and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP3A4.

Gene Wiki entry for TBXAS1 Gene

Additional gene information for TBXAS1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBXAS1 Gene

Genomics for TBXAS1 Gene

GeneHancer (GH) Regulatory Elements for TBXAS1 Gene

Promoters and enhancers for TBXAS1 Gene

GeneHancer (GH) Identifier	GH Type	GH Score	GH Sources	Gene Association Score	Total Score	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites
GH07I139773	Promoter/Enhancer	2.2	EPDnew Ensembl ENCODE dbSUPER	550.8	-0.8	-820	5.5	HDGF PKNOX1 SIN3A ZNF2 IRF4 YY1 ZNF143 ZNF207 FOS KLF13	HIPK2 TBXAS1 SLC37A3 LUC7L2 ZC3HAV1L PARP12 PIR36040
GH07I139828	Promoter/Enhancer	2	EPDnew Ensembl ENCODE dbSUPER	561.6	+53.2	53153	3.5	HDAC1 PKNOX1 ATF1 ZBTB40 BATF YY1 ZNF766 ETV6 BCLAF1 RUNX3	TBXAS1 HIPK2 LUC7L2 SLC37A3 ENSG00000273391 GC07P139864
GH07I139851	Enhancer	1.7	FANTOM5 Ensembl ENCODE dbSUPER	24.4	+77.2	77229	5	HDGF PKNOX1 FOXA2 IRF4 TCF12 ZNF766 CBX5 FOS ATF7 RUNX3	TBXAS1 HIPK2 SLC37A3 LUC7L2 ZC3HAV1L KDM7A GC07P139864
GH07I139724	Enhancer	1.7	FANTOM5 Ensembl ENCODE dbSUPER	23.5	-44.9	-44908	15	HDGF CLOCK FOXA2 ZFP64 ZNF133 ARID4B SIN3A FEZF1 ZNF2 IRF4	SLC37A3 LUC7L2 TBXAS1 HIPK2 UBN2 ZC3HAV1L PARP12 KDM7A TMEM213 KIAA1549
GH07I139679	Enhancer	1.6	FANTOM5 Ensembl ENCODE dbSUPER	15	-95.0	-95039	5.8	ATF1 MLX ZFP64 SIN3A YY1 ATF7 FOS RUNX3 RXRA SP5	TBXAS1 HIPK2 ERHP1 CLEC2L KDM7A PIR36040 LOC105375530

- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBXAS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBXAS1 gene promoter:

Regulatory Element Products

Genomic Locations for TBXAS1 Gene

chr7:139,777,051-140,020,325: (GRCh38/hg38)

Size:: 243,275 bases
Orientation:: Plus strand

chr7:139,476,850-139,720,125: (GRCh37/hg19)

Genomic View for TBXAS1 Gene

Genes around TBXAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

7q34 by Ensembl
7q34 by Entrez Gene
7q34 by HGNC

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

Genomic Location for TBXAS1 Gene — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TBXAS1 Gene

Proteins for TBXAS1 Gene

Protein details for TBXAS1 Gene (UniProtKB/Swiss-Prot)
Protein Symbol:

P24557-THAS_HUMAN

Recommended name:

Thromboxane-A synthase

Protein Accession:

P24557

Secondary Accessions:
- B4DJG6
- E7EMU9
- E7EP08
- E7ESB5
- O14987
- Q16843
- Q16844
- Q8IUN1
- Q96CN2
- Q9GZW4
- Q9HD77
- Q9HD78
- Q9HD79
- Q9HD80
- Q9HD81
- Q9HD82
- Q9HD83
- Q9HD84
Protein attributes for TBXAS1 Gene
Size:

533 amino acids

Molecular mass:

60518 Da

Cofactor:

Name=heme; Xref=ChEBI:CHEBI:30413;
Quaternary structure:
Monomer.
SequenceCaution:
Sequence=AAA60617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAA60618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAC01761.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAC01761.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99269.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99270.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99271.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99272.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99273.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99274.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99275.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99276.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99278.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99279.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH41157.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG58828.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW83934.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Alternative splice isoforms for TBXAS1 Gene
UniProtKB/Swiss-Prot:
P24557-1

P24557-2

P24557-3

P24557-4

neXtProt entry for TBXAS1 Gene

Protein Expression for TBXAS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for TBXAS1 Gene

P24557:

ETLRMYPPAFRFTR
FFRQGFWES
AVGALHHDP
VVASVAFG
LIRNVIALRD
GYYLGRRM

Post-translational modifications for TBXAS1 Gene

No Post-translational modifications

Other Protein References for TBXAS1 Gene

ENSEMBL proteins:

REFSEQ proteins:

Antibody Products

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- TA337958
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Abcam antibodies for TBXAS1
- Thromboxane synthase

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- PAD549Hu01

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- RPD549Hu01

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Abcam proteins for TBXAS1
- Thromboxane synthase

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Domains & Families for TBXAS1 Gene

Gene Families for TBXAS1 Gene

HGNC:

1004 : Cytochrome P450 family 5

IUPHAR :

CYP5A1
265

Human Protein Atlas (HPA):

Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Protein Domains for TBXAS1 Gene

InterPro:

Blocks:

ProtoNet:

P24557

Suggested Antigen Peptide Sequences for TBXAS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P24557

UniProtKB/Swiss-Prot:

THAS_HUMAN :

Belongs to the cytochrome P450 family.

Family:

Belongs to the cytochrome P450 family.

Function for TBXAS1 Gene

Molecular function for TBXAS1 Gene

GENATLAS Biochemistry:

thromboxane synthase,cytochrome p450 superfamily

TBXAS1

UniProtKB/Swiss-Prot CatalyticActivity:

(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.

THAS_HUMAN,P24557

Enzyme Numbers (IUBMB) for TBXAS1 Gene

EC 5.3.99.5 ⁵⁶ ⁴

Phenotypes From GWAS Catalog for TBXAS1 Gene

Gene Ontology (GO) - Molecular Function for TBXAS1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	IEA	--
GO:0004796	thromboxane-A synthase activity	IEA,TAS	--
GO:0005506	iron ion binding	IEA	--
GO:0016491	oxidoreductase activity	IEA	--
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	--

Phenotypes for TBXAS1 Gene

MGI mutant phenotypes for TBXAS1:

inferred from 2 alleles

GenomeRNAi human phenotypes for TBXAS1:

Human Phenotype Ontology for TBXAS1 Gene

HPO Id	HPO Name	Alternative Ids	Definition	Synonyms

Animal Models for TBXAS1 Gene

MGI Knock Outs for TBXAS1:

Tbxas1 ^tm1Swl
Tbxas1 ^tm1Okun

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ViGene Biosciences ready-to-package AAV shRNAs for TBXAS1 gene
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Search ViGene Biosciences for TBXAS1

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miRNA for TBXAS1 Gene

miRTarBase miRNAs that target TBXAS1

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- TBXAS1 knockout cell line

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ViGene Biosciences lentiviral particle packaged cDNA for TBXAS1 gene
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Cloud-Clone Corp. primary cells service

No data available for Transcription Factor Targets and HOMER Transcription for TBXAS1 Gene

Localization for TBXAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBXAS1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

P24557-THAS_HUMAN

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
endoplasmic reticulum	5
plasma membrane	3
peroxisome	1
nucleus	1
cytosol	1

Subcellular locations from the

Human Protein Atlas (HPA)

Vesicles (3)

See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBXAS1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005623	cell	IEA	--
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016020	membrane	IEA	--
GO:0016021	integral component of membrane	IEA	--

Pathways & Interactions for TBXAS1 Gene

SuperPathways for TBXAS1 Gene

More details on SuperPathways for TBXAS1

	SuperPathway	Contained pathways
1	Cytochrome P450 - arranged by substrate type	Cytochrome P450 - arranged by substrate type .64 Phase 1 - Functionalization of compounds .63	Biological oxidations .49 Eicosanoids .01
2	Metabolism	Metabolism .37 Metabolism of lipids and lipoproteins .37	Metabolic pathways .36
3	Arachidonic acid metabolism	Arachidonic acid metabolism .39 Synthesis of Prostaglandins (PG) and Thromboxanes (TX) .01	C20 prostanoid biosynthesis .01
4	Linoleic acid metabolism	Arachidonic acid metabolism .42
5	Platelet activation	Platelet activation -

Pathways by source for TBXAS1 Gene

3 BioSystems pathways for TBXAS1 Gene

8 Reactome pathways for TBXAS1 Gene

4 PharmGKB pathways for TBXAS1 Gene

3 KEGG pathways for TBXAS1 Gene

2 GeneGo (Thomson Reuters) pathways for TBXAS1 Gene

Interacting Proteins for TBXAS1 Gene

http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000389414%0d%0a9606.ENSP00000262033%0d%0a9606.ENSP00000360687%0d%0a9606.ENSP00000354612%0d%0a9606.ENSP00000342385%0d%0a9606.ENSP00000356438%0d%0a — STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins: ENSP00000389414 P24557-THAS_HUMAN for TBXAS1 Gene via STRING IID

Symbol	External ID(s)	Details
MYO1F	ENSP00000344871 ²⁰ O00160 ¹³⁷	STRING: ENSP00000344871 IID: # pred=1
PTGES	ENSP00000342385 ²⁰ O14684 ¹³⁷	STRING: ENSP00000342385 IID: # pred=1
PTGIS	ENSP00000244043 ²⁰ Q16647 ¹³⁷	STRING: ENSP00000244043 IID: # pred=2
PTGS1	ENSP00000354612 ²⁰ P23219 ¹³⁷	STRING: ENSP00000354612 IID: # pred=1
PTGS2	ENSP00000356438 ²⁰ P35354 ¹³⁷	STRING: ENSP00000356438 IID: # pred=1

Gene Ontology (GO) - Biological Process for TBXAS1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	IEA	--
GO:0006631	fatty acid metabolic process	IEA	--
GO:0006633	fatty acid biosynthetic process	IEA	--
GO:0006690	icosanoid metabolic process	TAS	--
GO:0006693	prostaglandin metabolic process	IEA	--

No data available for SIGNOR curated interactions for TBXAS1 Gene

Drugs & Compounds for TBXAS1 Gene

(15) Drugs for TBXAS1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name	Status	Disease Links	Group	Role	Mechanism of Action	Clinical Trials
Ridogrel	Approved	MalaCards Medline Plus	Pharma	Target, inhibitor		0
Aspirin	Approved, Vet_approved	MalaCards Medline Plus	Pharma	Channel blocker		1232
Sulfasalazine	Approved	MalaCards Medline Plus	Pharma	Inhibition, Inhibitor, Target, antagonist	NF-κB activation inhibitor	63
dazoxiben	Experimental	MalaCards Medline Plus	Pharma	Target, inhibitor		0
NM-702	Investigational	MalaCards Medline Plus	Pharma	Target		0

(16) Additional Compounds for TBXAS1 Gene - From: Novoseek and HMDB

Name	Synonyms	CAS Number	PubChem IDs	PubMed IDs
Thromboxane	Thromboxane A2	MalaCards Medline Plus	66719-58-2	114873	1633871 7688225 7878751 7925341 7986068
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 (1S-(1alpha,3alpha,3R),4beta(Z),5alpha)-7-(3-(3-hydroxy-1-octenyl)-2,6-dioxabicyclo(3.1.1)hept-4-yl)-5-Heptenoic acid (5Z)-7-[(1S,3R,4S,5S)-3-[(1E,3S)-3-hydroxy-1-octenyl]-2,6-dioxabicyclo[3.1.1]hept-4-yl]-5-Heptenoate (5Z)-7-[(1S,3R,4S,5S)-3-[(1E,3S)-3-hydroxy-1-octenyl]-2,6-dioxabicyclo[3.1.1]hept-4-yl]-5-Heptenoic acid (5Z,13E)-(15S)-9,11-epoxy-15-hydroxythromba-5,13-dienoate	MalaCards Medline Plus	57576-52-0	5280497	1633871 1899531 7488650 7700866 7878751
Prostaglandin H2	(15S)Hydroxy-9alpha,11alpha-(epoxymethano)prosta-5,13-dienoate (15S)Hydroxy-9alpha,11alpha-(epoxymethano)prosta-5,13-dienoic acid (5Z)-7-{(1R,4S,5R,6R)-6-[(1E,3S)-3-hydroxyoct-1-en-1-yl]-2,3-dioxabicyclo[2.2.1]hept-5-yl}hept-5-enoate (5Z)-7-{(1R,4S,5R,6R)-6-[(1E,3S)-3-hydroxyoct-1-en-1-yl]-2,3-dioxabicyclo[2.2.1]hept-5-yl}hept-5-enoic acid (5Z,13E)-(15S)-9,11-epidioxy-15-hydroxyprosta-5,13-dienoate	MalaCards Medline Plus	42935-17-1	445049

(2) ApexBio Compounds for TBXAS1 Gene

Compound	Action	Cas Number
Ozagrel	Thromboxane A2 synthetase inhibitor	82571-53-7
Ozagrel HCl		78712-43-3

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Transcripts for TBXAS1 Gene

mRNA/cDNA for TBXAS1 Gene

(11) REFSEQ mRNAs :

(12) Additional mRNA sequences :

(135) Selected AceView cDNA sequences:

(20) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBXAS1 Gene

Thromboxane A synthase 1 (platelet):

Hs.520757

Representative Sequences:

NM_001130966

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Clone Products

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Alternative Splicing Database (ASD) splice patterns (SP) for TBXAS1 Gene

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:													-		-		-
SP6:
SP7:									-		-		-		-

Relevant External Links for TBXAS1 Gene

GeneLoc Exon Structure for: TBXAS1
ECgene alternative splicing isoforms for: TBXAS1

Expression for TBXAS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBXAS1 Gene

mRNA expression in normal human tissues for TBXAS1 Gene

mRNA expression by BioGPS for TBXAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Brain (Nervous System)
- Cerebellum
Blood (Hematopoietic System)
- Hematopoietic Bone Marrow
Neural Crest (Gastrulation Derivatives)
- PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
Paraxial Mesoderm (Gastrulation Derivatives)
- PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
Spleen (Hematopoietic System)

mRNA differential expression in normal tissues according to GTEx for TBXAS1 Gene

This gene is overexpressed in Whole Blood (x27.3) and Spleen (x4.8).

Protein differential expression in normal tissues from HIPED for TBXAS1 Gene

This gene is overexpressed in Platelet (29.4), Peripheral blood mononuclear cells (14.9), and Spleen (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TBXAS1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TBXAS1 Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for TBXAS1 Gene

Protein tissue co-expression partners for TBXAS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBXAS1 Gene:

TBXAS1

SOURCE GeneReport for Unigene cluster for TBXAS1 Gene:

Hs.520757

mRNA Expression by UniProt/SwissProt for TBXAS1 Gene:

P24557-THAS_HUMAN

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

Evidence on tissue expression from TISSUES for TBXAS1 Gene

Blood(4.5)
Lung(4.5)
Nervous system(4.5)
Liver(4.4)
Spleen(2.1)
Bone(2)
Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBXAS1 Gene

Germ Layers:

ectoderm
endoderm
mesoderm

Systems:

cardiovascular
immune
integumentary
lymphatic
respiratory
skeleton

Organs:

Head and neck:

brain
face
head
jaw
mandible
maxilla
mouth
neck
nose
skull

Thorax:

chest wall
clavicle
lung
rib
rib cage
scapula
sternum

Abdomen:

liver
spleen

Pelvis:

pelvis

Limb:

ankle
arm
digit
elbow
femur
fibula
finger
foot
forearm
hand
hip
humerus
knee
lower limb
radius
shin
shoulder
thigh
tibia
toe
ulna
upper limb
wrist

General:

blood
blood vessel
bone marrow
coagulation system
red blood cell
skin
spinal column
vertebrae
white blood cell

Primer Products

OriGene qPCR primer pairs for TBXAS1
- HP203782
OriGene qPCR primer pairs and template standards for TBXAS1
- HK211252
- HK207237

genomics-online: primer clones - Search results for available TBXAS1 gene related products

Orthologs for TBXAS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBXAS1 Gene

Organism	Taxonomy	Gene	Similarity	Type	Details
chimpanzee (Pan troglodytes)	Mammalia	TBXAS1 ³⁴	99 (a)	OneToOne	7:141253854-141495362
dog (Canis familiaris)	Mammalia	TBXAS1 ³³ ³⁴	87.24 (n)		482771 XM_539887.4 XP_539887.2 16:8869803-9032075
cow (Bos Taurus)	Mammalia	TBXAS1 ³³ ³⁴	84.8 (n)		509326 NM_001046027.2 NP_001039492.1 4:104133819-104307005
mouse (Mus musculus)	Mammalia	Tbxas1 ³³ ¹⁶ ³⁴	82.86 (n)		21391 NM_011539.3 NP_035669.3 38875404 6:38875404-39084585
rat (Rattus norvegicus)	Mammalia	Tbxas1 ³³	82.3 (n)		24886 NM_012687.1 NP_036819.1
oppossum (Monodelphis domestica)	Mammalia	TBXAS1 ³⁴	71 (a)	OneToOne	8:202036869-202302100
platypus (Ornithorhynchus anatinus)	Mammalia	TBXAS1 ³⁴	59 (a)	OneToOne	Contig2897:18841-50985
chicken (Gallus gallus)	Aves	TBXAS1 ³³ ³⁴	64.89 (n)		418101 XM_416334.4 XP_416334.4 1:55904115-56140985
lizard (Anolis carolinensis)	Reptilia	TBXAS1 ³⁴	59 (a)	OneToOne	5:16882913-17160003
tropical clawed frog (Silurana tropicalis)	Amphibia	tbxas1 ³³	60.9 (n)		100327243 NM_001171526.1 NP_001164997.1
zebrafish (Danio rerio)	Actinopterygii	tbxas1 ³³ ³⁴	57.72 (n)		792041 NM_205609.1 NP_991172.1 18:12104314-12321906
zebrafish (Danio rerio)	Actinopterygii	wufk19d08 ³³			AY398422.1
fruit fly (Drosophila melanogaster)	Insecta	Cyp6a23 ³⁵ ³³ ³⁴	46.22 (n)		36661 NM_137156.2 NP_611000.2 2R:10763338-10765159
		Cyp9c1 ³⁵ ³⁴	29 (a)		2R:20518586-20520446
		Cyp6a13 ³⁵ ³⁴	28 (a)		2R:4458004-4459652
		Cyp6a20 ³⁵	28 (a)
		Cyp6a21 ³⁵ ³⁴	28 (a)		2R:10772769-10774456
		Cyp6d4 ³⁵ ³⁴	28 (a)		3R:18524047-18526029
		Cyp6g2 ³⁵ ³⁴	28 (a)		2R:8075843-8077882
		Cyp6t1 ³⁵ ³⁴	28 (a)		X:21388461-21390196
		Cyp6v1 ³⁵ ³⁴	28 (a)		X:20528811-20532419
		Cyp6w1 ³⁵ ³⁴	28 (a)		2R:2061189-2062936
		Cyp6a22 ³⁴	28 (a)	OneToMany	2R:10759178-10760970
		Cyp9h1 ³⁴	28 (a)	OneToMany	2R:8728318-8730063
		Cyp6a18 ³⁵ ³⁴	27 (a)		3R:23304399-23306190
		Cyp6a8 ³⁵ ³⁴	27 (a)		2R:10774676-10776514
		Cyp6a17 ³⁴	27 (a)	OneToMany	2R:10761459-10763063
		Cyp6a2 ³⁴	27 (a)	OneToMany	2R:2667254-2668996
		Cyp9b1 ³⁴	27 (a)	OneToMany	2R:3015343-3017311
		Cyp6a19 ³⁵ ³⁴	26 (a)		2R:10765293-10767257
		Cyp6a9 ³⁵ ³⁴	26 (a)		2R:10766861-10768877
		Cyp9b2 ³⁴	26 (a)	OneToMany	2R:3017782-3019640
		Cyp6d5 ³⁴	25 (a)	OneToMany	3R:9854952-9857206
		Cyp6g1 ³⁴	25 (a)	OneToMany	2R:8073168-8075936
		Cyp6t3 ³⁴	25 (a)	OneToMany	2R:8078187-8079941
		Cyp6u1 ³⁴	25 (a)	OneToMany	2R:2859617-2862514
		Cyp9f2 ³⁴	25 (a)	OneToMany	3R:8229062-8231750
		Cyp28d1 ³⁴	24 (a)	OneToMany	2L:5210461-5212445
		Cyp28d2 ³⁴	24 (a)	OneToMany	2L:5207267-5209345
		Cyp308a1 ³⁴	24 (a)	OneToMany	X:18603898-18605672
		Cyp317a1 ³⁴	22 (a)	OneToMany	2R:10787000-10788556
		Cyp28c1 ³⁴	21 (a)	OneToMany	X:11733641-11735536
		Cyp6d2 ³⁴	21 (a)	OneToMany	2R:18540078-18542032
		Cyp28a5 ³⁴	20 (a)	OneToMany	2L:13977303-13979573
		Cyp309a2 ³⁴	20 (a)	OneToMany	2L:2564882-2573047
		Cyp309a1 ³⁴	19 (a)	OneToMany	2L:2562885-2564848
worm (Caenorhabditis elegans)	Secernentea	T10B9.7 ³⁵	29 (a)
		F14F7.2 ³⁵	28 (a)
		T10B9.3 ³⁵	28 (a)
		T10B9.8 ³⁵	28 (a)
		cyp-13A2 ³⁴	28 (a)	OneToMany	II:9783818-9787398
		cyp-13A7 ³⁴	28 (a)	OneToMany	II:9803620-9805510
		T10B9.1 ³⁵	27 (a)
		T10B9.2 ³⁵	27 (a)
		cyp-13A4 ³⁴	27 (a)	OneToMany	II:9795848-9797740
		cyp-13A8 ³⁴	27 (a)	OneToMany	II:9805627-9807532
		ZK1320.4 ³⁵	26 (a)
		cyp-13A1 ³⁴	26 (a)	OneToMany	II:9779182-9781950
		cyp-13A5 ³⁴	26 (a)	OneToMany	II:9798276-9800363
		cyp-13A6 ³⁴	26 (a)	OneToMany	II:9800761-9802721
		cyp-13A10 ³⁴	25 (a)	OneToMany	II:9660839-9662946
		cyp-13A11 ³⁴	25 (a)	OneToMany	III:13021009-13023949
		cyp-13A12 ³⁴	25 (a)	OneToMany	III:13024596-13028012
		cyp-13A3 ³⁴	25 (a)	OneToMany	II:9788801-9793284
		cyp-13B2 ³⁴	25 (a)	OneToMany	X:14225573-14228914
		cyp-13B1 ³⁴	23 (a)	OneToMany	X:13406675-13409644
thale cress (Arabidopsis thaliana)	eudicotyledons	CYP711A1 ³³	45.8 (n)		817157 NM_128175.3 NP_565617.2
rice (Oryza sativa)	Liliopsida	Os01g0701500 ³³	45.76 (n)		4326929 NM_001050524.2 NP_001043989.2
sea squirt (Ciona savignyi)	Ascidiacea	-- ³⁴	38 (a)	ManyToMany	reftig_1667:4270-5970
sea squirt (Ciona savignyi)	Ascidiacea	-- ³⁴	34 (a)	ManyToMany	reftig_1031:8173-10689

Species where no ortholog for TBXAS1 was found in the sources mined by GeneCards:

A. gosspyii yeast (Ashbya gossypii)
Actinobacteria (Mycobacterium tuberculosis)
African clawed frog (Xenopus laevis)
African malaria mosquito (Anopheles gambiae)
Alicante grape (Vitis vinifera)
alpha proteobacteria (Wolbachia pipientis)
amoeba (Dictyostelium discoideum)
Archea (Pyrococcus horikoshii)
baker's yeast (Saccharomyces cerevisiae)
barley (Hordeum vulgare)
beta proteobacteria (Neisseria meningitidis)
bread mold (Neurospora crassa)
Chromalveolata (Phytophthora infestans)
common water flea (Daphnia pulex)
corn (Zea mays)
E. coli (Escherichia coli)
filamentous fungi (Aspergillus nidulans)
Firmicute bacteria (Streptococcus pneumoniae)
fission yeast (Schizosaccharomyces pombe)
green algae (Chlamydomonas reinhardtii)
honey bee (Apis mellifera)
K. lactis yeast (Kluyveromyces lactis)
loblloly pine (Pinus taeda)
malaria parasite (Plasmodium falciparum)
medicago trunc (Medicago Truncatula)
moss (Physcomitrella patens)
orangutan (Pongo pygmaeus)
pig (Sus scrofa)
rainbow trout (Oncorhynchus mykiss)
rice blast fungus (Magnaporthe grisea)
schistosome parasite (Schistosoma mansoni)
sea anemone (Nematostella vectensis)
sea urchin (Strongylocentrotus purpuratus)
sorghum (Sorghum bicolor)
soybean (Glycine max)
stem rust fungus (Puccinia graminis)
sugarcane (Saccharum officinarum)
tomato (Lycopersicon esculentum)
toxoplasmosis (Toxoplasma gondii)
Trichoplax (Trichoplax adhaerens)
wheat (Triticum aestivum)

Evolution for TBXAS1 Gene

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

Paralogs for TBXAS1 Gene

(7) SIMAP similar genes for TBXAS1 Gene using alignment to 12 proteins:

Variants for TBXAS1 Gene

Sequence variations from dbSNP and Humsavar for TBXAS1 Gene

SNP ID	Clin	Chr 07 pos	Variation	Type
rs140005285	pathogenic, uncertain-significance, Ghosal hematodiaphyseal syndrome, not specified, Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	139,911,233(+)	T/C	coding_sequence_variant, intron_variant, missense_variant
rs199422114	pathogenic, Ghosal hematodiaphyseal syndrome, Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	140,017,766(+)	T/C	coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs199422116	pathogenic, Ghosal hematodiaphyseal syndrome, Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	140,017,747(+)	G/A/T	coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs199422117	pathogenic, Ghosal hematodiaphyseal syndrome, Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	140,015,731(+)	G/A	coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs794727053	pathogenic, Ghosal syndrome	140,017,723(+)	GGGG/GGG	coding_sequence_variant, frameshift, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TBXAS1 Gene

Variant ID	Type	Subtype	PubMed ID
dgv11622n54	CNV	loss	21841781
dgv6641n100	CNV	gain	25217958
esv2671572	CNV	deletion	23128226
esv2676633	CNV	deletion	23128226
esv2735212	CNV	deletion	23290073
esv2735234	CNV	deletion	23290073
esv2735235	CNV	deletion	23290073
esv2735236	CNV	deletion	23290073
esv3542517	CNV	deletion	23714750
esv3615218	CNV	loss	21293372
esv3615219	CNV	loss	21293372
esv3615220	CNV	loss	21293372
esv3891211	CNV	loss	25118596
nsv1076004	CNV	deletion	25765185
nsv1125926	CNV	tandem duplication	24896259
nsv1135988	CNV	deletion	24896259
nsv1145162	CNV	deletion	24896259
nsv365428	CNV	deletion	16902084
nsv464732	CNV	gain	19166990
nsv464733	CNV	loss	19166990
nsv608472	CNV	gain	21841781
nsv608473	CNV	loss	21841781
nsv608474	CNV	loss	21841781
nsv608475	CNV	loss	21841781
nsv831156	CNV	loss	17160897

Variation tolerance for TBXAS1 Gene

Residual Variation Intolerance Score: 92.3% of all genes are more intolerant (likely to be disease-causing)

Gene Damage Index Score: 5.96; 74.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBXAS1 Gene

Human Gene Mutation Database (HGMD): TBXAS1
The Human Cytochrome P450 Allele Nomenclature Database: TBXAS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for: TBXAS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBXAS1 Gene

Disorders for TBXAS1 Gene

(10) MalaCards diseases for TBXAS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder	Aliases	PubMed IDs
ghosal hematodiaphyseal dysplasia	ghdd
bleeding disorder, platelet-type, 14	bdplt14
aregenerative anemia	refractory anemias
ischemic bone disease
peroneal nerve paralysis	peroneal nerve palsy

- elite association - COSMIC cancer census association via MalaCards

Search TBXAS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THAS_HUMAN

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 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. {ECO:0000269 PubMed:6101498}.

Additional Disease Information for TBXAS1

Genetic Association Database: (GAD)
Human Genome Epidemiology Navigator: (HuGE)
: ATLAS of Genetics and Cytogenetics in Oncology and Haematology

Search disorders for TBXAS1 gene in PubMed and other databases

No data available for Genatlas for TBXAS1 Gene

Publications for TBXAS1 Gene

Molecular cloning of human platelet thromboxane A synthase. (PMID: 1714723) Yokoyama C … Tanabe T (Biochemical and biophysical research communications 1991) ² ³ ⁴ ²² ⁵⁸
Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population. (PMID: 19403042) Park SA … Shin HD (BMB reports 2009) ³ ²² ⁴⁴ ⁵⁸
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). (PMID: 18264100) Geneviève D … Cormier-Daire V (Nature genetics 2008) ³ ⁴ ²² ⁵⁸
Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. (PMID: 8964509) Baek SJ … Shen RF (Gene 1996) ² ³ ²² ⁵⁸
Characterization of the human gene (TBXAS1) encoding thromboxane synthase. (PMID: 7925341) Miyata A … Tanabe T (European journal of biochemistry 1994) ³ ⁴ ²² ⁵⁸