1. Gene
  2. Acvrl1 - activin A receptor, type II-like 1 Gene

Acvrl1 - activin A receptor, type II-like 1 Gene

中文名称:激活素 A 受体, II 型样 1

种属: Mus musculus

同用名: Alk1; Acvrlk1

基因 ID: 11482 | 基因类型: protein coding

关于 Acvrl1

Chromosome 15: 101,026,403-101,043,217 forward strand.GRCm39:CM001008.3

This gene has 11 transcripts (splice variants), 358 orthologues, 11 paralogues and is associated with 53 phenotypes. Biased expression in lung adult (RPKM 194.2), subcutaneous fat pad adult (RPKM 18.5) and 5 other tissues.

功能概要

预计该基因编码的蛋白可启动多种功能,包括 ATP 绑定活动;激活素结合活性;和跨膜受体蛋白丝氨酸/苏氨酸激酶活性。参与多个过程,包括调节内皮细胞分化;调节内皮细胞增殖;和血管发育。作用于多个过程的上游或内部,包括血管生成;血管生成的正向调节;和跨膜受体蛋白丝氨酸/苏氨酸激酶信号通路。预测位于细胞表面;树突;和神经细胞体。预计是质膜的组成部分。预计是 BMP 受体复合物的一部分。预计在质膜上有活性。以多种结构表达,包括消化系统;中枢神经系统;眼睛;泌尿生殖系统;和免疫系统。用于研究大脑的动静脉畸形和遗传性出血性毛细血管扩张症。该基因的人类直系同源物与遗传性出血性毛细血管扩张症和肺动脉高压有关。与人类 ACVRL1(1 型激活素 A 受体)同源。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable several functions, including ATP binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including regulation of endothelial cell differentiation; regulation of endothelial cell proliferation; and vasculature development. Acts upstream of or within several processes, including angiogenesis; positive regulation of angiogenesis; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to be located in cell surface; dendrite; and neuronal cell body. Predicted to be integral component of plasma membrane. Predicted to be part of BMP Receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and immune system. Used to study arteriovenous malformations of the brain and hereditary hemorrhagic telangiectasia. Human ortholog(s) of this gene implicated in hereditary hemorrhagic telangiectasia and pulmonary hypertension. Orthologous to human ACVRL1 (Activin A receptor like type 1). [provided by Alliance of Genome Resources, Apr 2022]

Acvrl1 基因产物(5)

mRNA Protein Name
NM_001277259.1 NP_001264188.1 serine/threonine-protein kinase receptor R3 isoform a precursor
NM_001277257.1 NP_001264186.1 serine/threonine-protein kinase receptor R3 isoform a precursor
NM_001277255.1 NP_001264184.1 serine/threonine-protein kinase receptor R3 isoform b
NM_009612.3 NP_033742.2 serine/threonine-protein kinase receptor R3 isoform a precursor
NM_001277258.1 NP_001264187.1 serine/threonine-protein kinase receptor R3 isoform a precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
14580334 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within BMP signaling pathway IMP
IMP: 通过突变表型推断
22783020 MGI
acts upstream of or within angiogenesis IMP
IMP: 通过突变表型推断
10716993 MGI
involved in artery development IMP
IMP: 通过突变表型推断
19903896 MGI
acts upstream of or within blood vessel morphogenesis IMP
IMP: 通过突变表型推断
17530030 MGI
involved in blood vessel remodeling IMP
IMP: 通过突变表型推断
19903896 MGI
involved in cellular response to transforming growth factor beta stimulus IDA
IDA: 通过直接分析推断
19494318 MGI
involved in dorsal aorta morphogenesis IMP
IMP: 通过突变表型推断
12941632 MGI
involved in endocardial cushion morphogenesis IMP
IMP: 通过突变表型推断
12941632 MGI
NOT involved in endocardial cushion to mesenchymal transition IMP
IMP: 通过突变表型推断
12941632 MGI
acts upstream of or within in utero embryonic development IMP
IMP: 通过突变表型推断
17911384 MGI
involved in lymphangiogenesis IMP
IMP: 通过突变表型推断
19903896 MGI
involved in lymphatic endothelial cell differentiation IMP
IMP: 通过突变表型推断
19903896 MGI
involved in negative regulation of endothelial cell differentiation IDA
IDA: 通过直接分析推断
20406889 MGI
involved in negative regulation of endothelial cell proliferation IDA
IDA: 通过直接分析推断
20406889 MGI
involved in negative regulation of gene expression IMP
IMP: 通过突变表型推断
12941632 MGI
involved in positive regulation of BMP signaling pathway IDA
IDA: 通过直接分析推断
20406889 MGI
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
20406889 MGI
acts upstream of or within positive regulation of angiogenesis IGI
IGI: 通过遗传相互作用推断
23868260 MGI
involved in positive regulation of endothelial cell differentiation IDA
IDA: 通过直接分析推断
20406889 MGI
involved in positive regulation of endothelial cell proliferation IDA
IDA: 通过直接分析推断
20406889 MGI
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
12941632 MGI
involved in retina vasculature development in camera-type eye IMP
IMP: 通过突变表型推断
19903896 MGI
acts upstream of or within transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
14580334 MGI
involved in venous blood vessel development IMP
IMP: 通过突变表型推断
19903896 MGI
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

Acvrl1 蛋白结构

TGF_beta_GS

TGF_beta_GS: pfam08515 (172 - 198)

STKc_ACVR1_ALK1

STKc_ACVR1_ALK1: cd14142 (194 - 491)

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

serine/threonine-protein kinase receptor R3

SKR3

TGF-B superfamily receptor type I

TSR-I

activin receptor-like kinase 1

重组 Acvrl1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7481 ACVRL1/ALK1 Protein, Mouse (HEK293, Fc) Q61288 (D23-P119) ≥95%
HY-P72819 ACVRL1/ALK1 Protein, Mouse (HEK293, His-Fc) Q61288 (M1-P119) ≥95%

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Acvrl1 NCBI NCBI:94
Canis familiaris Acvrl1 NCBI NCBI:477603
Macaca fascicularis Acvrl1 NCBI NCBI:102143641
Rattus norvegicus Acvrl1 NCBI NCBI:25237