ACVRL1 (activin A receptor like type 1)

基因基本信息

基因基本信息

symbol:
ACVRL1
locus group:
protein-coding gene
location:
12q13.13
gene_family:
Type I receptor serine/threonine kinases
alias symbol:
HHT2|ALK1|HHT
alias name:
activin receptor-like kinase 1
entrez id:
94
ensembl gene id:
ENSG00000139567
ucsc gene id:
uc001rzj.4
refseq accession:
NM_000020
hgnc_id:
HGNC:175
approved reserved:
1994-12-12

基因染色体位置

基因染色体位置

12q13.13

基因简述

基因简述

ACVRL1（Activin A Receptor Like Type 1，激活素A受体样激酶1）是TGF-β（转化生长因子-β）超家族受体成员之一，属于丝氨酸/苏氨酸激酶受体家族。该基因编码的蛋白质是一种跨膜受体，主要与配体BMP9（骨形态发生蛋白9）和BMP10结合，参与调控血管发育、维持血管稳态及组织修复等过程。其生物学功能依赖于与配体结合后激活下游SMAD信号通路（如SMAD1/5/8），进而调控靶基因表达。ACVRL1主要在内皮细胞中表达，尤其在动脉血管中作用显著，影响血管生成和重塑。若ACVRL1发生功能丧失性突变（如R206H等），会导致受体活性降低或信号传导异常，引发遗传性出血性毛细血管扩张症（HHT2型，即Osler-Weber-Rendu综合征），表现为血管畸形、反复鼻出血及内脏动静脉瘘。该基因与ALK1（原英文名）为同一蛋白，属于BMP受体I型亚家族（BMPR-I），该家族成员均通过结合BMP配体调控细胞分化、增殖及凋亡。若ACVRL1过表达，可能增强血管生成信号，导致病理性血管增生（如肿瘤血管形成）；而表达降低则可能引发血管发育缺陷或修复障碍。此外，ACVRL1与ENG（内皮糖蛋白）基因协同作用，两者突变均可导致HHT，但ACVRL1突变更常伴随肺动脉高压。目前针对ACVRL1异常的治疗策略包括靶向BMP9/10或下游信号分子（如沙利度胺）。

中文English

本基因编码的配体的TGF-β超家族I型细胞表面受体。这股与其它I型受体在丝氨酸 - 苏氨酸激酶亚结构域具有高度的相似性，一个甘氨酸和富含丝氨酸的区域（称为GS结构域）的激酶结构域前，和短C-末端尾部。所编码的蛋白质，有时称为ALK1，股类似畴结构与形成受体丝氨酸/苏氨酸激酶的亚家族其他密切相关的ALK或活化素受体样激酶蛋白。在这种基因突变与出血性毛细血管扩张，2型，也称为[通过的RefSeq，2008年7月提供]任督-奥斯勒 - 韦伯综合征2相关联

OMIM数据库中对ACVRL1基因的介绍     Wikipedia数据库中对ACVRL1基因的介绍

基因序列

基因序列

ACVRL1基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH
41CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR
81 PTEFVNHYC CDSHLCNHNV SLVLEATQPP SEQPGTDGQL
121ALILGPVLAL LALVALGVLG LWHVRRRQEK QRGLHSELGE
161S SLILKASE QGDSMLGDLL DSDCTTGSGS GLPFLVQRTV
201ARQVALVECV GKGRYGEVWR GLWHGESVAV KIFSSRDEQS
241WF RETEIYN TVLLRHDNIL GFIASDMTSR NSSTQLWLIT
281HYHEHGSLYD FLQRQTLEPH LALRLAVSAA CGLAHLHVEI
321FGT QGKPAI AHRDFKSRNV LVKSNLQCCI ADLGLAVMHS
361QGSDYLDIGN NPRVGTKRYM APEVLDEQIR TDCFESYKWT
401DIWA FGLVL WEIARRTIVN GIVEDYRPPF YDVVPNDPSF
441EDMKKVVCVD QQTPTIPNRL AADPVLSGLA QMMRECWYPN
481PSARL TALR IKKTLQKISN SPEKPKVIQ
结构预测来自 AlphaFold DB（UniProt: P37023），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

ACVRL1基因的碱基突变：           仅显示部分snp
rs697631       rs706811       rs706812       rs706813       rs706814       rs706815       rs706816       rs706817       rs706818       rs706819       rs706820       rs706821       rs772003       rs810052       rs813471       rs1044164       rs1058563      

基因表达

基因表达

ACVRL1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
ACATCCTAGGCTTCATCGC
60
GCAGAAAGTCGTAGAGGGA
59
ACATCCTAGGCTTCATCGC
60
GCAGAAAGTCGTAGAGGGA
59
GAGTTTCGCTCTTGTTGTCC
60
CTGTCACTCCACTTCCTGG
60
TTCGTCAACCACTACTGCT
59
AGAAGATCTTGACGGCCAC
60
ACATCCTAGGCTTCATCGC
60
GCAGAAAGTCGTAGAGGGA
59
CATCGTGAATGGCATCGTG
60
CCTTCTTCATGTCCTCAAAGC
59
CTTCTGATGCTGCTGATGG
59
TAGTGGTTGACGAACTCGG
60
CATCGTGAATGGCATCGTG
60
CCTTCTTCATGTCCTCAAAGC
59
CATCGTGAATGGCATCGTG
59
CCTTCTTCATGTCCTCAAAGC
59
CAACATCCTAGGCTTCATCG
59
AGAAAGTCGTAGAGGGAGC
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
SP1
ACVRL1
Unknown
20587022
TCF7L2
ACVRL1
Unknown
20803090

基因本体信息

ACVRL1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

ACVRL1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004702
D9IPD9 (UniProtKB)
IEA
GO:0005524
D9IPD9 (UniProtKB)
IEA
GO:0007178
D9IPD9 (UniProtKB)
IEA
GO:0016020
D9IPD9 (UniProtKB)
IEA
GO:0023014
D9IPD9 (UniProtKB)
IEA
GO:0004702
E7EN07 (UniProtKB)
IEA
GO:0005524
E7EN07 (UniProtKB)
IEA
GO:0007178
E7EN07 (UniProtKB)
IEA
GO:0016021
E7EN07 (UniProtKB)
IEA
GO:0023014
E7EN07 (UniProtKB)
IEA
GO:0004702
F8W0N2 (UniProtKB)
IEA
GO:0005524
F8W0N2 (UniProtKB)
IEA
GO:0007178
F8W0N2 (UniProtKB)
IEA
GO:0016021
F8W0N2 (UniProtKB)
IEA
GO:0023014
F8W0N2 (UniProtKB)
IEA
GO:0004675
G3V1W8 (UniProtKB)
IEA
GO:0004702
G3V1W8 (UniProtKB)
IEA
GO:0005524
G3V1W8 (UniProtKB)
IEA
GO:0007178
G3V1W8 (UniProtKB)
IEA
GO:0016021
G3V1W8 (UniProtKB)
IEA
GO:0023014
G3V1W8 (UniProtKB)
IEA
GO:0046872
G3V1W8 (UniProtKB)
IEA
GO:0004702
H3BTZ2 (UniProtKB)
IEA
GO:0005524
H3BTZ2 (UniProtKB)
IEA
GO:0007178
H3BTZ2 (UniProtKB)
IEA
GO:0016021
H3BTZ2 (UniProtKB)
IEA
GO:0023014
H3BTZ2 (UniProtKB)
IEA
GO:0001525
P37023 (UniProtKB)
IMP
GO:0001701
P37023 (UniProtKB)
IEA
GO:0001936
P37023 (UniProtKB)
TAS
GO:0001937
P37023 (UniProtKB)
IEA
GO:0001938
P37023 (UniProtKB)
IEA
GO:0001946
P37023 (UniProtKB)
ISS
GO:0001955
P37023 (UniProtKB)
TAS
GO:0001974
P37023 (UniProtKB)
ISS
GO:0002043
P37023 (UniProtKB)
TAS
GO:0004674
P37023 (UniProtKB)
IDA
GO:0004674
P37023 (UniProtKB)
IDA
GO:0004675
P37023 (UniProtKB)
NAS
GO:0004702
P37023 (UniProtKB)
IEA
GO:0005024
P37023 (UniProtKB)
IDA
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005515
P37023 (UniProtKB)
IPI
GO:0005524
P37023 (UniProtKB)
IDA
GO:0005886
P37023 (UniProtKB)
IDA
GO:0005887
P37023 (UniProtKB)
IDA
GO:0006275
P37023 (UniProtKB)
TAS
GO:0006355
P37023 (UniProtKB)
IMP
GO:0006468
P37023 (UniProtKB)
IDA
GO:0007162
P37023 (UniProtKB)
IMP
GO:0007165
P37023 (UniProtKB)
IDA
GO:0007179
P37023 (UniProtKB)
IDA
GO:0008015
P37023 (UniProtKB)
IMP
GO:0008217
P37023 (UniProtKB)
IMP
GO:0008285
P37023 (UniProtKB)
IMP
GO:0009986
P37023 (UniProtKB)
IDA
GO:0010596
P37023 (UniProtKB)
IDA
GO:0010862
P37023 (UniProtKB)
IMP
GO:0016361
P37023 (UniProtKB)
IDA
GO:0019901
P37023 (UniProtKB)
IPI
GO:0023014
P37023 (UniProtKB)
IEA
GO:0030308
P37023 (UniProtKB)
IDA
GO:0030336
P37023 (UniProtKB)
IMP
GO:0030425
P37023 (UniProtKB)
IEA
GO:0030509
P37023 (UniProtKB)
IMP
GO:0030513
P37023 (UniProtKB)
IDA
GO:0032332
P37023 (UniProtKB)
TAS
GO:0032924
P37023 (UniProtKB)
IEA
GO:0035313
P37023 (UniProtKB)
IMP
GO:0043025
P37023 (UniProtKB)
IEA
GO:0043535
P37023 (UniProtKB)
TAS
GO:0043537
P37023 (UniProtKB)
IMP
GO:0045602
P37023 (UniProtKB)
IEA
GO:0045603
P37023 (UniProtKB)
IEA
GO:0045766
P37023 (UniProtKB)
IEA
GO:0045893
P37023 (UniProtKB)
IDA
GO:0045944
P37023 (UniProtKB)
IDA
GO:0046332
P37023 (UniProtKB)
IDA
GO:0046872
P37023 (UniProtKB)
IEA
GO:0048185
P37023 (UniProtKB)
IDA
GO:0050431
P37023 (UniProtKB)
IPI
GO:0051291
P37023 (UniProtKB)
IEA
GO:0051895
P37023 (UniProtKB)
IMP
GO:0060836
P37023 (UniProtKB)
IMP
GO:0060840
P37023 (UniProtKB)
ISS
GO:0060841
P37023 (UniProtKB)
ISS
GO:0061154
P37023 (UniProtKB)
IMP
GO:0061298
P37023 (UniProtKB)
ISS
GO:0071560
P37023 (UniProtKB)
IDA
GO:0071773
P37023 (UniProtKB)
IMP
GO:0071773
P37023 (UniProtKB)
IMP
GO:0098821
P37023 (UniProtKB)
IMP
GO:2000279
P37023 (UniProtKB)
IMP
GO:0005025
P37023 (UniProtKB)
IDA
GO:0016361
P37023 (UniProtKB)
TAS

基因相关microRNA

基因相关microRNA

可能调控 ACVRL1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

BioGrid
mentha
MINT
加载中…
关联基因 作用方式 资源库来源/分值

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
OSLER-RENDU-WEBER SYNDROME 2 0.44 10 16 CLINVAR_CTD_human_MGD_UNIPROT
Hereditary hemorrhagic telangiectasia 0.303376404 61 0 BeFree_CTD_human_GAD_LHGDN_ORPHANET
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 0.12 0 8 CLINVAR
Pulmonary Hypertension 0.084624443 8 0 BeFree_LHGDN_RGD
Arteriovenous Malformations, Cerebral 0.080542884 2 0 BeFree_MGD
Congenital arteriovenous malformation 0.015144663 28 0 BeFree_GAD_LHGDN
Telangiectasis 0.013340378 13 0 BeFree_LHGDN
Hypertensive disease 0.007729856 4 0 BeFree_GAD_LHGDN
Idiopathic pulmonary hypertension 0.007057489 26 0 BeFree
Arteriovenous hemangioma 0.006514605 24 0 BeFree

基因相关文献

基因相关文献

A case of hereditary hemorrhagic telangiectasia with ACVRL1 gene variant.
Ochiai S, Yamaguchi R, Takeda K, Oishi N, Togi S, Ura H, Niida Y, Shimizu A Dermatol Reports IF: 1.0 2026-03-27
Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.
Sturiale CL, Cocilovo F, Trevisi G, Palermo M, Cordisco EL, Di Martino L, Sonnini E, Albanese A, Doglietto F, Pola R, Gaetani E, Gemelli HHT study group J Neurol IF: 5.4 2026-03-31
Genotype-driven cerebrovascular risk across age and sex in hereditary hemorrhagic telangiectasia.
Palermo M, Cocilovo F, Trevisi G, Lucci Cordisco E, Di Martino L, Sonnini E, Albanese A, Doglietto F, Olivi A, Pola R, Gaetani E, Sturiale CL, Gemelli HHT study group. Neurol Sci IF: 2.7 2026-04-16
Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease.
Lee H, Kim Y, Kim MS, Lee KA, Song SW Interdiscip Cardiovasc Thorac Surg 2026-05-05
Molecular dynamics simulations refine the pathogenicity of ACVRL1 kinase domain variants by quantifying impacts on ATP binding in pulmonary arterial hypertension.
Borovikova I, Uporov I, Okhrimenko G, Zamyatin V, Dankovtseva E, Zateyshchikov D, Poptsova M J Struct Biol IF: 2.3 2026-06-00
Modeling Somatic Second-Hit Mutations in Novel Mouse Models of Hereditary Hemorrhagic Telangiectasia.
Bartoletti AP, Bavishi S, Rajan KC, Meadows SM bioRxiv 2026-02-22
miR-141-5p positively regulates ACVRL1 expression to promote cervical cancer progression.
Liu J, Jiao Y, Wang J, Cui X, Gao Y, Zhang Y, Xu J, Hao J, Hou Y, Wang W, Yang G, Li L Hum Cell IF: 1.930 2026-05-28

基因相关服务

基因相关服务

基因相关评论

基因相关评论

评论加载中...

登录后即可发表评论 登录 注册

联系地址

山东省济南市章丘区文博路2号

齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号

大学科技园北区F座4单元2楼

电话： 0531-88819269

微信公众号

关注微信订阅号，实时查看信息，关注医学生物学动态。


商务邮箱

E-mail: product@genelibs.com

版权所有 © 2026.Genelibs 济南弘晖生物技术有限公司 鲁ICP备20007159号-2