1. Gene
  2. TBXAS1 - thromboxane A synthase 1 Gene

TBXAS1 - thromboxane A synthase 1 Gene

中文名称:血栓素 A 合酶 1

种属: Homo sapiens

同用名: TS; TXS; CYP5; THAS; TXAS; CYP5A1; GHOSAL; BDPLT14

基因 ID: 6916 | 基因类型: protein coding

关于 TBXAS1

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:139,778,242-140,020,293 (from NCBI)

This gene has 22 transcripts (splice variants), 219 orthologues and is associated with 3 phenotypes. Broad expression in spleen (RPKM 5.9), appendix (RPKM 4.4) and 23 other tissues.

功能概要

该基因编码细胞色素 P450 酶超家族的成员。细胞色素 P450 蛋白是单加氧酶,可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。然而,根据序列相似性而非功能相似性,该蛋白质被认为是细胞色素 P450 超家族的成员。这种内质网膜蛋白催化前列腺素 H2 转化为凝血恶烷 A2,凝血恶烷 A2 是一种有效的血管收缩剂和血小板聚集诱导剂。该酶在多种病理生理过程中发挥作用,包括止血、心血管疾病和中风。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 8 月]

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]

TBXAS1 基因产物(8)

mRNA Protein Name
NM_001061.7 NP_001052.3 thromboxane-A synthase isoform 1
NM_001130966.5 NP_001124438.2 thromboxane-A synthase isoform 1
NM_001166253.4 NP_001159725.2 thromboxane-A synthase isoform 3
NM_001166254.4 NP_001159726.1 thromboxane-A synthase isoform 4
NM_001314028.4 NP_001300957.1 thromboxane-A synthase isoform 5
NM_001366537.3 NP_001353466.1 thromboxane-A synthase isoform 6
NM_001366538.2 NP_001353467.1 thromboxane-A synthase isoform 7
NM_030984.6 NP_112246.3 thromboxane-A synthase isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables heme binding IDA
IDA: 通过直接分析推断
11097184 GOA
enables hydroperoxy icosatetraenoate dehydratase activity IDA
IDA: 通过直接分析推断
17459323 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
enables thromboxane-A synthase activity IDA
IDA: 通过直接分析推断
11297515 GOA
enables thromboxane-A synthase activity IMP
IMP: 通过突变表型推断
11097184 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in icosanoid metabolic process IDA
IDA: 通过直接分析推断
17459323 GOA
involved in prostaglandin biosynthetic process IMP
IMP: 通过突变表型推断
11097184 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
8366093 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TBXAS1 蛋白结构

p450

p450: Cytochrome P450 (46 - 298)

p450

p450: Cytochrome P450 (325 - 527)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 533 a.a.
蛋白主名 其他名称

thromboxane-A synthase

TXA synthase

TBXAS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TBXAS1 P24557 EEF1A2 Homo sapiens Q05639 28514442
种属内
TBXAS1 P24557 EEF1A2 Homo sapiens Q05639 33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

TBXAS1 抗体

目录号 产品名 应用 反应物种
HY-P82925 Thromboxane A Synthase Antibody (YA2670) WB Human, Mouse

关联疾病

疾病名称 别名
Ghosal Hematodiaphyseal Dysplasia

Ghosal Syndrome

Ghosal Hematodiaphyseal Syndrome

GHDD

Diaphyseal Dysplasia-Anemia Syndrome

Ghosal Hematodiaphyseal Dysplasia Syndrome

Diaphyseal Dysplasia Associated With Anemia

Ghosal Hemato-Diaphyseal Dysplasia

Ghosal-Type Hemato-Diaphyseal Dysplasia

Bleeding Disorder, Platelet-Type, 14

Thromboxane Synthetase Deficiency

BDPLT14

Platelet-Type Bleeding Disorder 14

Thromboxane Synthase Deficiency

Aregenerative Anemia

Refractory Anemias

Bleeding Disorder, Platelet-Type, 12

BDPLT12

Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet

Pghs1 Deficiency

Platelet Cyclooxygenase 1 Deficiency

Platelet Cox1 Deficiency

Platelet-Type Bleeding Disorder 12

Platelet Prostaglandin-Endoperoxide Synthase 1 Deficiency

Cerebral Arteritis

Brain Endarteritis

Cerebral Or Cerebrospinal Endarteritis

Brain Arteritis

Camurati-Engelmann Disease

Progressive Diaphyseal Dysplasia

Ced

Engelmann Disease

Diaphyseal Dysplasia 1, Progressive

Pdd

Diaphyseal Dysplasia

Dpd1

Camurati-Engelmann Syndrome

CAEND

Engelman'S Disease

Diaphyseal Hyperostosis

Diaphyseal Osteosclerosis

Pancytopenia
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TBXAS1 RGD RGD:3826
Bos taurus TBXAS1 VGNC VGNC:35674
Mus musculus TBXAS1 MGD MGI:98497
Macaca mulatta TBXAS1 VGNC VGNC:78278
Canis familiaris TBXAS1 VGNC VGNC:47178
Felis catus TBXAS1 VGNC VGNC:66011