TBXAS1 Gene (Protein Coding)

Thromboxane A Synthase 1

GC07P139777
GIFtS:
50
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 simi... See more...

Aliases for TBXAS1 Gene

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
  • Thromboxane-A Synthase 3 4
  • Cytochrome P450 5A1 3 4
  • TXA Synthase 3 4
  • EC 5.3.99.5 4 54
  • 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
  • BDPLT14 3
  • GHOSAL 3
  • THAS 3
  • TXAS 3
  • TS 3

External Ids for TBXAS1 Gene

Previous GeneCards Identifiers for TBXAS1 Gene

  • GC07P137799
  • GC07P138808
  • GC07P138936
  • GC07P138982
  • GC07P139124
  • GC07P139476
  • GC07P133772

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 Cytochrome P450 - arranged by substrate type and Prostaglandin 2 biosynthesis and metabolism FM. 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.

Gene Wiki entry for TBXAS1 Gene

Additional gene information for TBXAS1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBXAS1 Gene

Genomics for TBXAS1 Gene

GeneHancer (GH) Regulatory Elements for TBXAS1 Gene

Promoters and enhancers for TBXAS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBXAS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBXAS1 gene promoter:
  • C/EBPalpha
  • FOXO1
  • FOXO1a
  • GATA-1
  • GATA-2
  • GATA-3
  • PPAR-gamma2
  • RP58
  • Sox9
  • STAT1

Genomic Locations for TBXAS1 Gene

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)
Size:
243,276 bases
Orientation:
Plus strand

Genomic View for TBXAS1 Gene

Genes around TBXAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
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
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TBXAS1 Gene

Proteins for TBXAS1 Gene

Products:

  1. Antibody
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  • 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:

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBXAS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for TBXAS1 Gene

Gene Families for TBXAS1 Gene

HGNC:
IUPHAR :
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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TBXAS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52771, highly similar to Thromboxane-A synthase (EC 5.3.99.5) (B7Z6W1_HUMAN)
  • TBXAS1 protein (Q96CN2_HUMAN)
  • Cytochrome P450 5A1 (THAS_HUMAN)

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.
genes like me logo Genes that share domains with TBXAS1: view

Function for TBXAS1 Gene

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  1. Animal Model
  2. CRISPR
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  4. Inhibitory RNA
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  6. Cell Line

Molecular function for TBXAS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=prostaglandin H2 = thromboxane A2; Xref=Rhea:RHEA:17137, ChEBI:CHEBI:57405, ChEBI:CHEBI:57445; EC=5.3.99.5;.
GENATLAS Biochemistry:
thromboxane synthase,cytochrome p450 superfamily

Enzyme Numbers (IUBMB) for TBXAS1 Gene

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 TAS,IEA --
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 --
genes like me logo Genes that share ontologies with TBXAS1: view
genes like me logo Genes that share phenotypes with TBXAS1: view

Human Phenotype Ontology for TBXAS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBXAS1 Gene

MGI Knock Outs for TBXAS1:

Animal Model Products

CRISPR Products

miRNA for TBXAS1 Gene

miRTarBase miRNAs that target TBXAS1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBXAS1

Clone Products

Cell Line Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBXAS1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 2
extracellular 1
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 --
genes like me logo Genes that share ontologies with TBXAS1: view

Pathways & Interactions for TBXAS1 Gene

genes like me logo Genes that share pathways with TBXAS1: view

SIGNOR curated interactions for TBXAS1 Gene

Is activated by:
Is inactivated by:

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 --
genes like me logo Genes that share ontologies with TBXAS1: view

Drugs & Compounds for TBXAS1 Gene

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  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker 1403
Sulfasalazine Approved Pharma Inhibition, Inhibitor, Target, antagonist NF-κB activation inhibitor 76
Ridogrel Experimental Pharma Target, inhibitor 0
dazoxiben Experimental Pharma Target, inhibitor 0
NM-702 Investigational Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Thromboxane
  • Thromboxane a2
 66719-58-2
Thromboxane A2
  • (5Z,13E)-(15S)-9alpha,11alpha-Epoxy-15-hydroxythromboxa-5,13-dienoate
  • (5Z,9alpha,11alpha,13E,15S)-9,11-Epoxy-15-hydroxythromboxa-5,13-dien-1-Oic acid
  • 9S,11S-Epoxy,15S-hydroxy-thromboxa-5Z,13E-dien-1-Oic acid
  • TXA-2
  • TXA2
 57576-52-0
Prostaglandin H2
  • (5Z,13E)-(15S)-9alpha,11alpha-Epidioxy-15-hydroxyprosta-5,13-dienoate
  • (5Z,13E,15S)-9alpha,11alpha-Epidioxy-15-hydroxyprosta-5,13-dienoate
  • (5Z,9alpha,11alpha,13E,15S)-9,11-Epidioxy-15-hydroxyprosta-5,13-dien-1-Oic acid
  • 9,11-epoxymethano-PGH2
  • PGH2
 42935-17-1

(2) ApexBio Compounds for TBXAS1 Gene

Compound Action Cas Number
Ozagrel Thromboxane A2 synthetase inhibitor 82571-53-7
Ozagrel HCl 78712-43-3
genes like me logo Genes that share compounds with TBXAS1: view

Transcripts for TBXAS1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TBXAS1 Gene

(8) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(135) Selected AceView cDNA sequences:
(22) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBXAS1

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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 GTEx for TBXAS1 GenemRNA expression by BioGPS for TBXAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED 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
Regions:
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
genes like me logo Genes that share expression patterns with TBXAS1: view

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 33
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia TBXAS1 33 32
  • 87.24 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia TBXAS1 33 32
  • 84.8 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tbxas1 17 33 32
  • 82.86 (n)
rat
(Rattus norvegicus)
 Mammalia Tbxas1 32
  • 82.3 (n)
oppossum
(Monodelphis domestica)
 Mammalia TBXAS1 33
  • 71 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TBXAS1 33
  • 59 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TBXAS1 33 32
  • 64.89 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TBXAS1 33
  • 59 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia tbxas1 32
  • 60.9 (n)
zebrafish
(Danio rerio)
 Actinopterygii tbxas1 33 32
  • 57.72 (n)
 OneToOne
wufk19d08 32
fruit fly
(Drosophila melanogaster)
 Insecta Cyp6a23 33 34 32
  • 46.22 (n)
 OneToMany
Cyp6a18 33 34
  • 28 (a)
 OneToMany
Cyp6a13 33 34
  • 28 (a)
 OneToMany
Cyp9c1 33 34
  • 28 (a)
 OneToMany
Cyp6v1 33 34
  • 28 (a)
 OneToMany
Cyp6a22 33
  • 28 (a)
 OneToMany
Cyp9h1 33
  • 28 (a)
 OneToMany
Cyp6a20 34
  • 28 (a)
Cyp9b1 33
  • 27 (a)
 OneToMany
Cyp6a21 33 34
  • 27 (a)
 OneToMany
Cyp6a2 33
  • 27 (a)
 OneToMany
Cyp6a19 33 34
  • 27 (a)
 OneToMany
Cyp6a17 33
  • 27 (a)
 OneToMany
Cyp6a8 33 34
  • 27 (a)
 OneToMany
Cyp6w1 33 34
  • 26 (a)
 OneToMany
Cyp6d4 33 34
  • 26 (a)
 OneToMany
Cyp6a9 33 34
  • 26 (a)
 OneToMany
Cyp6g2 33 34
  • 26 (a)
 OneToMany
Cyp6t1 33 34
  • 26 (a)
 OneToMany
Cyp9b2 33
  • 26 (a)
 OneToMany
Cyp9f2 33
  • 25 (a)
 OneToMany
Cyp6u1 33
  • 25 (a)
 OneToMany
Cyp6g1 33
  • 25 (a)
 OneToMany
Cyp6t3 33
  • 25 (a)
 OneToMany
Cyp6d5 33
  • 25 (a)
 OneToMany
Cyp308a1 33
  • 24 (a)
 OneToMany
Cyp28d2 33
  • 24 (a)
 OneToMany
Cyp28d1 33
  • 24 (a)
 OneToMany
Cyp317a1 33
  • 22 (a)
 OneToMany
Cyp6d2 33
  • 21 (a)
 OneToMany
Cyp28c1 33
  • 21 (a)
 OneToMany
Cyp309a2 33
  • 20 (a)
 OneToMany
Cyp28a5 33
  • 20 (a)
 OneToMany
Cyp309a1 33
  • 19 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea T10B9.7 34
  • 29 (a)
cyp-13A2 33
  • 28 (a)
 OneToMany
cyp-13A7 33
  • 28 (a)
 OneToMany
T10B9.3 34
  • 28 (a)
T10B9.8 34
  • 28 (a)
F14F7.2 34
  • 28 (a)
cyp-13A8 33
  • 27 (a)
 OneToMany
cyp-13A4 33
  • 27 (a)
 OneToMany
T10B9.2 34
  • 27 (a)
T10B9.1 34
  • 27 (a)
cyp-13A1 33
  • 26 (a)
 OneToMany
cyp-13A5 33
  • 26 (a)
 OneToMany
cyp-13A6 33
  • 26 (a)
 OneToMany
ZK1320.4 34
  • 26 (a)
cyp-13A11 33
  • 25 (a)
 OneToMany
cyp-13A10 33
  • 25 (a)
 OneToMany
cyp-13A3 33
  • 25 (a)
 OneToMany
cyp-13B2 33
  • 25 (a)
 OneToMany
cyp-13A12 33
  • 25 (a)
 OneToMany
cyp-13B1 33
  • 23 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons CYP711A1 32
  • 45.8 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0701500 32
  • 45.76 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 38 (a)
 ManyToMany
-- 33
  • 34 (a)
 ManyToMany
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)
Aminode:
Evolutionary constrained regions (ECRs) for TBXAS1: view image

Paralogs for TBXAS1 Gene

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

  • THAS_HUMAN
  • B7Z6W1_HUMAN
  • C9J8N6_HUMAN
  • C9JS68_HUMAN
  • E7EMU9_HUMAN
  • E7ENP0_HUMAN
  • E7EP08_HUMAN
  • E7EP75_HUMAN
  • F8WC80_HUMAN
  • F8WD37_HUMAN
  • Q86UL7_HUMAN
  • Q9UDV3_HUMAN
genes like me logo Genes that share paralogs with TBXAS1: view

No data available for Paralogs for TBXAS1 Gene

Variants for TBXAS1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for TBXAS1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1016604233 A breast cancer sample 139,911,241(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs140005285 pathogenic, uncertain-significance, Ghosal hematodiaphyseal syndrome, not provided, Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] 139,911,233(+) T/C 5_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs149988492 likely-pathogenic, Ghosal syndrome, Thromboxane synthetase deficiency 140,017,723(+) G/A/C/T coding_sequence_variant, genic_downstream_transcript_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

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

The Human Cytochrome P450 Allele Nomenclature Database
TBXAS1
Human Gene Mutation Database (HGMD)
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

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with TBXAS1: view

No data available for Genatlas for TBXAS1 Gene

Publications for TBXAS1 Gene

  1. Molecular cloning of human platelet thromboxane A synthase. (PMID: 1714723) Yokoyama C … Tanabe T (Biochemical and biophysical research communications 1991) 2 3 4 23 56
  2. 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 23 43 56
  3. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). (PMID: 18264100) Geneviève D … Cormier-Daire V (Nature genetics 2008) 3 4 23 56
  4. Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. (PMID: 8964509) Baek SJ … Shen RF (Gene 1996) 2 3 23 56
  5. Characterization of the human gene (TBXAS1) encoding thromboxane synthase. (PMID: 7925341) Miyata A … Tanabe T (European journal of biochemistry 1994) 3 4 23 56

ExternalLinks

View latest publications for TBXAS1 gene in Mastermind

Products for TBXAS1 Gene

Sources for TBXAS1 Gene