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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
  • Cytochrome P450 5A1 3 4
  • TXA Synthase 3 4
  • EC 5.3.99.5 4 61
  • 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

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 Syndrome and Thromboxane Synthase Deficiency. Among its related pathways are Ibuprofen Pathway, Pharmacodynamics and Cytochrome P450 - arranged by substrate type. 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 CYP3A7-CYP3A51P.

Gene Wiki entry 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

Regulatory Elements for TBXAS1 Gene

Enhancers for TBXAS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G139851 1.9 FANTOM5 Ensembl ENCODE dbSUPER 24.4 +77.2 77229 5.0 HDGF PKNOX1 TCF12 ZNF766 CBX5 GATA2 ELK1 FOS MCM3 CAVIN1 TBXAS1 HIPK2 KDM7A GC07P139864
GH07G139724 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.5 -44.9 -44908 15.0 HDGF FOXA2 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 TBXAS1 HIPK2 FCF1P11 TTC26 ZC3HAV1L PARP12 KDM7A TMEM213 KIAA1549 LUC7L2
GH07G139859 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21.3 +84.0 83950 2.4 BCOR ZNF146 NFIB ZMYM3 ZNF2 POLR2A SMARCA5 RFX1 ZNF280D NRF1 TBXAS1 HIPK2 KDM7A GC07P139864
GH07G139679 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15 -95.0 -95039 5.8 HDGF ATF1 MLX ZFP64 SIN3A YY1 GATA2 FOS SP5 PPARG TBXAS1 HIPK2 ERHP1 CLEC2L KDM7A PIR36040 LOC105375530
GH07G139718 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.1 -56.0 -55951 5.8 HDAC1 FOXA2 PKNOX1 FEZF1 RAD21 RARA ZNF766 GATA2 ZNF366 BCLAF1 TBXAS1 HIPK2 RNU6-797P KDM7A PIR36040 LOC105375530
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBXAS1 on UCSC Golden Path with GeneCards custom track

Promoters for TBXAS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000218988 449 3001 HDGF CREB3L1 ARNT SIN3A ZNF2 YY1 ZNF207 ZNF263 SP3 REST

Genomic Location for TBXAS1 Gene

Chromosome:
7
Start:
139,777,051 bp from pter
End:
140,020,325 bp from pter
Size:
243,275 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 StructureGene 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:

neXtProt entry for TBXAS1 Gene

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

Domains & Families for TBXAS1 Gene

Gene Families for TBXAS1 Gene

Suggested Antigen Peptide Sequences for TBXAS1 Gene

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

Molecular function for TBXAS1 Gene

GENATLAS Biochemistry:
thromboxane synthase,cytochrome p450 superfamily
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.

Enzyme Numbers (IUBMB) 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 --
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

miRNA for TBXAS1 Gene

miRTarBase miRNAs that target TBXAS1

Inhibitory RNA 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 5
plasma membrane 3
peroxisome 1
nucleus 1
cytosol 1

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

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

No data available for SIGNOR curated interactions for TBXAS1 Gene

Drugs & Compounds for TBXAS1 Gene

(14) 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 Pharma Target, inhibitor 0
Aspirin Approved, Vet_approved Pharma Channel blocker 1152
Sulfasalazine Approved Pharma Inhibition, Inhibitor, Target, antagonist NF-κB activation inhibitor 60
dazoxiben Experimental Pharma Target, inhibitor 0
NM-702 Investigational Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
  • (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
57576-52-0
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
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

Drug Products

Transcripts for TBXAS1 Gene

Unigene Clusters for TBXAS1 Gene

Thromboxane A synthase 1 (platelet):
Representative Sequences:

Inhibitory RNA 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, 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
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
genes like me logo Genes that share expression patterns with TBXAS1: view

Primer 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 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBXAS1 34 35
  • 87.24 (n)
cow
(Bos Taurus)
Mammalia TBXAS1 34 35
  • 84.8 (n)
mouse
(Mus musculus)
Mammalia Tbxas1 34 16 35
  • 82.86 (n)
rat
(Rattus norvegicus)
Mammalia Tbxas1 34
  • 82.3 (n)
oppossum
(Monodelphis domestica)
Mammalia TBXAS1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBXAS1 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBXAS1 34 35
  • 64.89 (n)
lizard
(Anolis carolinensis)
Reptilia TBXAS1 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbxas1 34
  • 60.9 (n)
zebrafish
(Danio rerio)
Actinopterygii tbxas1 34 35
  • 57.72 (n)
wufk19d08 34
fruit fly
(Drosophila melanogaster)
Insecta Cyp6a23 36 34 35
  • 46.22 (n)
Cyp9c1 36 35
  • 29 (a)
Cyp6a13 36 35
  • 28 (a)
Cyp6a20 36
  • 28 (a)
Cyp6a21 36 35
  • 28 (a)
Cyp6d4 36 35
  • 28 (a)
Cyp6g2 36 35
  • 28 (a)
Cyp6t1 36 35
  • 28 (a)
Cyp6v1 36 35
  • 28 (a)
Cyp6w1 36 35
  • 28 (a)
Cyp6a22 35
  • 28 (a)
OneToMany
Cyp9h1 35
  • 28 (a)
OneToMany
Cyp6a18 36 35
  • 27 (a)
Cyp6a8 36 35
  • 27 (a)
Cyp6a17 35
  • 27 (a)
OneToMany
Cyp6a2 35
  • 27 (a)
OneToMany
Cyp9b1 35
  • 27 (a)
OneToMany
Cyp6a19 36 35
  • 26 (a)
Cyp6a9 36 35
  • 26 (a)
Cyp9b2 35
  • 26 (a)
OneToMany
Cyp6d5 35
  • 25 (a)
OneToMany
Cyp6g1 35
  • 25 (a)
OneToMany
Cyp6t3 35
  • 25 (a)
OneToMany
Cyp6u1 35
  • 25 (a)
OneToMany
Cyp9f2 35
  • 25 (a)
OneToMany
Cyp28d1 35
  • 24 (a)
OneToMany
Cyp28d2 35
  • 24 (a)
OneToMany
Cyp308a1 35
  • 24 (a)
OneToMany
Cyp317a1 35
  • 22 (a)
OneToMany
Cyp28c1 35
  • 21 (a)
OneToMany
Cyp6d2 35
  • 21 (a)
OneToMany
Cyp28a5 35
  • 20 (a)
OneToMany
Cyp309a2 35
  • 20 (a)
OneToMany
Cyp309a1 35
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T10B9.7 36
  • 29 (a)
F14F7.2 36
  • 28 (a)
T10B9.3 36
  • 28 (a)
T10B9.8 36
  • 28 (a)
cyp-13A2 35
  • 28 (a)
OneToMany
cyp-13A7 35
  • 28 (a)
OneToMany
T10B9.1 36
  • 27 (a)
T10B9.2 36
  • 27 (a)
cyp-13A4 35
  • 27 (a)
OneToMany
cyp-13A8 35
  • 27 (a)
OneToMany
ZK1320.4 36
  • 26 (a)
cyp-13A1 35
  • 26 (a)
OneToMany
cyp-13A5 35
  • 26 (a)
OneToMany
cyp-13A6 35
  • 26 (a)
OneToMany
cyp-13A10 35
  • 25 (a)
OneToMany
cyp-13A11 35
  • 25 (a)
OneToMany
cyp-13A12 35
  • 25 (a)
OneToMany
cyp-13A3 35
  • 25 (a)
OneToMany
cyp-13B2 35
  • 25 (a)
OneToMany
cyp-13B1 35
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP711A1 34
  • 45.8 (n)
rice
(Oryza sativa)
Liliopsida Os01g0701500 34
  • 45.76 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
ManyToMany
-- 35
  • 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)

Paralogs for TBXAS1 Gene

Variants for TBXAS1 Gene

Sequence variations from dbSNP and Humsavar for TBXAS1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs140005285 Pathogenic, Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] 139,911,233(+) CTATC(C/T)TGGTC intron-variant, reference, missense
rs199422114 Pathogenic, Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] 140,017,766(+) GCTGC(C/T)TGAGG intron-variant, reference, missense
rs199422116 Pathogenic, Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] 140,017,747(+) GCCTC(A/G/T)GGGTG intron-variant, reference, missense
rs199422117 Pathogenic, Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] 140,015,731(+) CACAC(A/G)GGAGG reference, missense
VAR_036294 A breast cancer sample

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)

Relevant External Links 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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ghosal hematodiaphyseal syndrome
  • ghosal hematodiaphyseal dysplasia
thromboxane synthase deficiency
  • platelet-type bleeding disorder 14
ischemic bone disease
peroneal nerve paralysis
  • peroneal nerve palsy
aregenerative anemia
  • refractory anemias
- 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}.

Relevant External Links for TBXAS1

Genetic Association Database (GAD)
TBXAS1
Human Genome Epidemiology (HuGE) Navigator
TBXAS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBXAS1
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. (Biochem. Biophys. Res. Commun. 1991) 2 3 4 22 64
  2. Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population. (PMID: 19403042) Park S.A. … Shin H.D. (BMB Rep 2009) 3 22 46 64
  3. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). (PMID: 18264100) Genevieve D. … Cormier-Daire V. (Nat. Genet. 2008) 3 4 22 64
  4. Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. (PMID: 8964509) Baek S.J. … Shen R.F. (Gene 1996) 2 3 22 64
  5. Characterization of the human gene (TBXAS1) encoding thromboxane synthase. (PMID: 7925341) Miyata A. … Tanabe T. (Eur. J. Biochem. 1994) 3 4 22 64

Products for TBXAS1 Gene

Sources for TBXAS1 Gene

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