Aliases for TBXAS1 Gene
Aliases for TBXAS1 Gene
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
Summaries 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.
Additional gene information for TBXAS1 Gene
- Monarch Initiative
- Search for TBXAS1 at DataMed
- Search for TBXAS1 at HumanCyc
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
- 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
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 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
- 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};
Protein Expression for TBXAS1 Gene
Selected DME Specific Peptides for TBXAS1 Gene
- P24557:
-
- ETLRMYPPAFRFTR
- FFRQGFWES
- AVGALHHDP
- VVASVAFG
- LIRNVIALRD
- GYYLGRRM
Post-translational modifications for TBXAS1 Gene
Other Protein References for TBXAS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for TBXAS1
-
Abcam antibodies for TBXAS1
-
Cloud-Clone Corp. Antibodies for TBXAS1
- Invitrogen Antibodies for TBXAS1
- GeneTex TBXAS1 antibody for TBXAS1
Protein Products
-
OriGene Purified Proteins for TBXAS1
- Search Origene for MassSpec and Protein Over-expression Lysates for TBXAS1
- Origene Custom Protein Services for TBXAS1
-
Cloud-Clone Corp. Proteins for TBXAS1
- antibodies-online: Search results for 10 available TBXAS1 Proteins ranked by validation data
- Compare Top TBXAS1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for TBXAS1
-
Abcam proteins for TBXAS1
Assay 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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TBXAS1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P24557- Family:
-
- Belongs to the cytochrome P450 family.
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
Phenotypes From GWAS Catalog 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:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TBXAS1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for TBXAS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TBXAS1 gene
- Search ViGene Biosciences for TBXAS1
CRISPR Products
-
OriGene CRISPR knockouts for TBXAS1
- genomics-online: gRNA clones - Search results for available TBXAS1 gene related products
- Applied Biological Materials CRISPR for TBXAS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBXAS1
- GenScript: Design CRISPR guide RNA sequences for TBXAS1
miRNA for TBXAS1 Gene
- miRTarBase miRNAs that target TBXAS1
miRNA Products
- Search ViGene Biosciences for TBXAS1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TBXAS1
- Browse OriGene Inhibitory RNA Products For TBXAS1
- genomics-online: shRNA clones - Search results for available TBXAS1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TBXAS1 gene
Clone Products
-
OriGene ORF clones in human for TBXAS1
- RG224686
- RC224686L2
- RC224686L1
- RC224686
- RG228912
- RC228912L2
- RC228912L1
- RC228912
- RG228471
- RC228471L2
- RC228471L1
- RC228471
- RG225917
- RC225917L2
- RC225917L1
- RC225917
- RG208028
- RC208028L2
- RC208028L1
- RC208028
- RC224686L2V
- RC224686L1V
- RC228912L2V
- RC228912L1V
- RC228471L2V
- RC228471L1V
- RC225917L2V
- RC225917L1V
- RC208028L2V
- RC208028L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for TBXAS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBXAS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available TBXAS1 gene related products
- orf clones - Search results for available TBXAS1 gene related products
- Applied Biological Materials Clones for TBXAS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor for TBXAS1
-
Horizon Cell Lines for TBXAS1
-
ViGene Biosciences adenoviral particle packaged cDNA for TBXAS1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TBXAS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TBXAS1 gene
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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
- Vesicles (3)
| 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
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type |
.01
|
|
| 2 | Metabolism |
.37
|
|
| 3 | Arachidonic acid metabolism | ||
| 4 | Linoleic acid metabolism | ||
| 5 | Platelet activation | ||
Pathways by source for TBXAS1 Gene
3 BioSystems pathways for TBXAS1 Gene
8 Reactome pathways for TBXAS1 Gene
3 KEGG pathways for TBXAS1 Gene
2 GeneGo (Thomson Reuters) pathways for TBXAS1 Gene
Interacting Proteins 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
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Ridogrel | Approved | Pharma | Target, inhibitor | 0 | ||
| Aspirin | Approved, Vet_approved | Pharma | Channel blocker | 1232 | ||
| Sulfasalazine | Approved | Pharma | Inhibition, Inhibitor, Target, antagonist | NF-κB activation inhibitor | 63 | |
| dazoxiben | Experimental | Pharma | Target, inhibitor | 0 | ||
| NM-702 | Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Thromboxane |
|
66719-58-2 | ||||
| Thromboxane A2 |
|
57576-52-0 | ||||
| Prostaglandin H2 |
|
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 |
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):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TBXAS1
- genomics-online: gRNA clones - Search results for available TBXAS1 gene related products
- Applied Biological Materials CRISPR for TBXAS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBXAS1
- GenScript: Design CRISPR guide RNA sequences for TBXAS1
miRNA Products
- Search ViGene Biosciences for TBXAS1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TBXAS1
- Browse OriGene Inhibitory RNA Products For TBXAS1
- genomics-online: shRNA clones - Search results for available TBXAS1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TBXAS1 gene
Clone Products
-
OriGene ORF clones in human for TBXAS1
- RG224686
- RC224686L2
- RC224686L1
- RC224686
- RG228912
- RC228912L2
- RC228912L1
- RC228912
- RG228471
- RC228471L2
- RC228471L1
- RC228471
- RG225917
- RC225917L2
- RC225917L1
- RC225917
- RG208028
- RC208028L2
- RC208028L1
- RC208028
- RC224686L2V
- RC224686L1V
- RC228912L2V
- RC228912L1V
- RC228471L2V
- RC228471L1V
- RC225917L2V
- RC225917L1V
- RC208028L2V
- RC208028L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for TBXAS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBXAS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available TBXAS1 gene related products
- orf clones - Search results for available TBXAS1 gene related products
- Applied Biological Materials Clones for TBXAS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - | - |
Expression for TBXAS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Blood (Hematopoietic System)
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
-
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TBXAS1 Gene:
TBXAS1SOURCE GeneReport for Unigene cluster for TBXAS1 Gene:
Hs.520757mRNA 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
Primer Products
-
OriGene qPCR primer pairs for TBXAS1
-
OriGene qPCR primer pairs and template standards for TBXAS1
- genomics-online: primer clones - Search results for available TBXAS1 gene related products
Gene Expression Assay Products
Orthologs for TBXAS1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TBXAS1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TBXAS1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | TBXAS1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Tbxas1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tbxas1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TBXAS1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TBXAS1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TBXAS1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TBXAS1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tbxas1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tbxas1 33 34 |
|
||
| wufk19d08 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Cyp6a23 35 33 34 |
|
||
| Cyp9c1 35 34 |
|
||||
| Cyp6a13 35 34 |
|
||||
| Cyp6a20 35 |
|
|
|||
| Cyp6a21 35 34 |
|
||||
| Cyp6d4 35 34 |
|
||||
| Cyp6g2 35 34 |
|
||||
| Cyp6t1 35 34 |
|
||||
| Cyp6v1 35 34 |
|
||||
| Cyp6w1 35 34 |
|
||||
| Cyp6a22 34 |
|
OneToMany | |||
| Cyp9h1 34 |
|
OneToMany | |||
| Cyp6a18 35 34 |
|
||||
| Cyp6a8 35 34 |
|
||||
| Cyp6a17 34 |
|
OneToMany | |||
| Cyp6a2 34 |
|
OneToMany | |||
| Cyp9b1 34 |
|
OneToMany | |||
| Cyp6a19 35 34 |
|
||||
| Cyp6a9 35 34 |
|
||||
| Cyp9b2 34 |
|
OneToMany | |||
| Cyp6d5 34 |
|
OneToMany | |||
| Cyp6g1 34 |
|
OneToMany | |||
| Cyp6t3 34 |
|
OneToMany | |||
| Cyp6u1 34 |
|
OneToMany | |||
| Cyp9f2 34 |
|
OneToMany | |||
| Cyp28d1 34 |
|
OneToMany | |||
| Cyp28d2 34 |
|
OneToMany | |||
| Cyp308a1 34 |
|
OneToMany | |||
| Cyp317a1 34 |
|
OneToMany | |||
| Cyp28c1 34 |
|
OneToMany | |||
| Cyp6d2 34 |
|
OneToMany | |||
| Cyp28a5 34 |
|
OneToMany | |||
| Cyp309a2 34 |
|
OneToMany | |||
| Cyp309a1 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | T10B9.7 35 |
|
|
|
| F14F7.2 35 |
|
|
|||
| T10B9.3 35 |
|
|
|||
| T10B9.8 35 |
|
|
|||
| cyp-13A2 34 |
|
OneToMany | |||
| cyp-13A7 34 |
|
OneToMany | |||
| T10B9.1 35 |
|
|
|||
| T10B9.2 35 |
|
|
|||
| cyp-13A4 34 |
|
OneToMany | |||
| cyp-13A8 34 |
|
OneToMany | |||
| ZK1320.4 35 |
|
|
|||
| cyp-13A1 34 |
|
OneToMany | |||
| cyp-13A5 34 |
|
OneToMany | |||
| cyp-13A6 34 |
|
OneToMany | |||
| cyp-13A10 34 |
|
OneToMany | |||
| cyp-13A11 34 |
|
OneToMany | |||
| cyp-13A12 34 |
|
OneToMany | |||
| cyp-13A3 34 |
|
OneToMany | |||
| cyp-13B2 34 |
|
OneToMany | |||
| cyp-13B1 34 |
|
OneToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | CYP711A1 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0701500 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
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)
Paralogs for TBXAS1 Gene
Paralogs for TBXAS1 Gene
(7) SIMAP similar genes for TBXAS1 Gene using alignment to 12 proteins:
Variants for TBXAS1 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
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 |
|
|
| bleeding disorder, platelet-type, 14 |
|
|
| aregenerative anemia |
|
|
| ischemic bone disease |
|
|
| peroneal nerve paralysis |
|
|
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
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
Products for TBXAS1 Gene
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- OriGene qPCR primer pairs for TBXAS1
- OriGene CRISPR knockouts for TBXAS1
- OriGene ORF clones in human for TBXAS1
- RC208028L1V
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- Abcam antibodies for TBXAS1
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- Browse Primary Antibodies
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- ApexBio compounds for TBXAS1
- Cyagen custom Knockout/knockin (KOKI) mouse models for TBXAS1
- VectorBuilder custom plasmid, inducible vectors for TBXAS1
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 78 available TBXAS1 Antibodies ranked by validation data
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- antibodies-online: Search results for 10 available TBXAS1 Proteins ranked by validation data
- Compare Top TBXAS1 Proteins
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- GeneTex TBXAS1 antibody for TBXAS1
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- ViGene Biosciences adenoviral particle packaged cDNA for TBXAS1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for TBXAS1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for TBXAS1 gene
- Search ViGene Biosciences for TBXAS1
- Horizon Cell Lines for TBXAS1
- genomics-online: cdna clones - Search results for available TBXAS1 gene related products
- orf clones - Search results for available TBXAS1 gene related products
- genomics-online: gRNA clones - Search results for available TBXAS1 gene related products
- genomics-online: primer clones - Search results for available TBXAS1 gene related products
- genomics-online: shRNA clones - Search results for available TBXAS1 gene related products
Sources for TBXAS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems