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6916 TBXAS1

6916

TBXAS1

thromboxane A synthase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition thromboxane A synthase 1

研究结论

Date Results Publications
2020-09-12 15:59:00 Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population. 31026093
2019-03-09 10:19:00 The available theoretical and experimental data have elucidated the very important role of the thromboxane A2 - thromboxane A synthase - thromboxane A2 receptor axis in the pathogenesis of thrombotic diseases. Systematic studies are required to verify genetic markers in patients at high cardiovascular risk, in order to achieve more effective diagnostics and treatment. [review] 30039765
2017-12-16 11:00:00 RS41708TT is not only independent risk factor for symptomatic carotid artery or intracranial arterial stenosis, but is also independent risk predictor for neurologic deterioration in ischemic stroke patients. 28108096
2017-12-02 11:10:00 Sequencing revealed two novel biallelic variants of unknown significance within the thromboxane A synthase gene, TBXAS1 (c.266T > C; c.989T > C), bioinformatically predicted to disrupt the protein. TBXAS1 mutations result in Ghosal hematodiaphyseal dysplasia (OMIM 231095), the autosomal recessive syndrome associated with abnormal bone structure and BMF. 28868793
2017-10-07 12:07:00 TXAS1 rs2267679TT and rs41708TT genotypes are associated with carotid plaque vulnerability, platelet activation and TXA2 levels in ischemic stroke patients. 28704403

名称对应

Type IDs
Synonymous BDPLT14, CYP5, CYP5A1, GHOSAL, THAS, TS, TXAS, TXS
Gene
UniProtKB-ID: THAS_HUMAN, Q53F23_HUMAN, B4DVP1_HUMAN, A0A0A0MSK3_HUMAN, A0A0C4DH47_HUMAN
UniprotKB: P24557, Q53F23, B4DVP1, A0A0A0MSK3, A0A0C4DH47
UniParc: UPI0000EE4047, UPI000007035B, UPI0000074740, UPI0001AE4FCB, UPI00017A7CEE, UPI00042DB676, UPI00042DB677, UPI00017A722C
EMBL: L36079, AF233623, L36076, KF573672, L36081, CH471070, AF233621, AC004914, L36083, AK223466, BC014117, AF233618, M80646, M74055, AF233616, AF233624, AF233619, L36082, AK301164, L36080, AF233620, L36077, L36078, AF233617, M80647, AK296069, KF459643, AF233622, L36075, L36085, AC004961, L36084, D34625, AF233625, BC041157, AF233615, AC006021
Ensembl: ENSG00000059377
KO: hsa:6916
Nucleutide sequences
EMBL-CDS: AAA60618.1, AAA60617.1, AAA36742.1, AAF99275.1, BAG58828.1, AAH41157.1, AAF99277.1, AAF99270.1, EAW83934.1, AAF99272.1, AAF99271.1, AAH14117.1, AAF99276.1, AAF99274.1, AAF99269.1, AAC01761.1, AAF99273.1, AAF99278.1, AAF99279.1, BAA07011.1, EAW83935.1, BAD97186.1, BAG62753.1, EAW83936.1
Gene_ORFName: hCG_14925, hCG_14925
Ensembl_TRS: ENST00000458722, ENST00000425687, ENST00000448866, ENST00000411653, ENST00000336425, ENST00000650822, ENST00000652056, ENST00000416849
Protein sequencees
Ensembl_PRO: ENSP00000338087, ENSP00000411274, ENSP00000411326, ENSP00000402536, ENSP00000388736, ENSP00000498517, ENSP00000498271, ENSP00000389414
RefSeq: NP_001300957.1, XP_024302669.1, NP_001353466.1, NP_112246.3, NP_001159725.2, XP_011514846.1, NP_001353467.1, XP_016868059.1, NP_001159726.1, XP_016868061.1, XP_016868060.1, NP_001124438.2, NP_001052.3
Others
UniRef100: UniRef100_B4DVP1, UniRef100_P24557, UniRef100_A0A0A0MSK3, UniRef100_A0A0C4DH47
UniRef90: UniRef90_B4DVP1, UniRef90_P24557, UniRef90_A0A0A0MSK3
UniRef50: UniRef50_F6SZ84, UniRef50_P24557
UniGene: Hs.520757
CCDS: CCDS5855.1, CCDS55174.1, CCDS5856.1, CCDS55175.1

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