1. Gene
  2. ACVRL1 - activin A receptor like type 1 Gene

ACVRL1 - activin A receptor like type 1 Gene

中文名称:激活素 A 受体样 1

种属: Homo sapiens

同用名: HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1

基因 ID: 94 | 基因类型: protein coding

关于 ACVRL1

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:51,906,944-51,923,361 (from NCBI)

This gene has 8 transcripts (splice variants), 358 orthologues, 11 paralogues and is associated with 4 phenotypes. Broad expression in placenta (RPKM 37.6), lung (RPKM 28.7) and 18 other tissues.

功能概要

该基因编码 TGF-β 配体超家族的 I 型细胞表面受体。它与其他 I 型受体在丝氨酸-苏氨酸激酶子结构域、激酶结构域之前的富含甘氨酸和丝氨酸的区域 (称为 GS 结构域) 以及短的 C 末端尾巴方面具有高度相似性。编码的蛋白质,有时称为 ALK1,与其他密切相关的 ALK 或激活素受体样激酶蛋白质共享相似的域结构,形成受体丝氨酸/苏氨酸激酶的亚家族。该基因的突变与 2 型出血性毛细血管扩张症有关,也称为 Rendu-Osler-Weber 综合征 2。[RefSeq 提供,2008 年 7 月]

This gene encodes a type I cell-surface receptor for the TGF-beta Superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]

ACVRL1 基因产物(15)

mRNA Protein Name
NM_001406493.1 NP_001393422.1 serine/threonine-protein kinase receptor R3 isoform 5 precursor
NM_001406492.1 NP_001393421.1 serine/threonine-protein kinase receptor R3 isoform 4 precursor
NM_001406490.1 NP_001393419.1 serine/threonine-protein kinase receptor R3 isoform 3 precursor
XM_047429903.1 XP_047285859.1 serine/threonine-protein kinase receptor R3 isoform X3
NM_001406489.1 NP_001393418.1 serine/threonine-protein kinase receptor R3 isoform 2 precursor
NM_001406487.1 NP_001393416.1 serine/threonine-protein kinase receptor R3 isoform 1 precursor
NM_000020.3 NP_000011.2 serine/threonine-protein kinase receptor R3 isoform 1 precursor
XM_047429901.1 XP_047285857.1 serine/threonine-protein kinase receptor R3 isoform X1
NM_001406494.1 NP_001393423.1 serine/threonine-protein kinase receptor R3 isoform 6 precursor
NM_001406488.1 NP_001393417.1 serine/threonine-protein kinase receptor R3 isoform 2 precursor
NM_001406495.1 NP_001393424.1 serine/threonine-protein kinase receptor R3 isoform 7 precursor
NM_001406491.1 NP_001393420.1 serine/threonine-protein kinase receptor R3 isoform 4 precursor
XM_011539008.2 XP_011537310.1 serine/threonine-protein kinase receptor R3 isoform X2
NM_001077401.2 NP_001070869.1 serine/threonine-protein kinase receptor R3 isoform 1 precursor
XM_005269235.3 XP_005269292.1 serine/threonine-protein kinase receptor R3 isoform X1

ACVRL1 蛋白结构

Activin_recp

Activin_recp: Activin types I and II receptor domain (32 - 100)

TGF_beta_GS

TGF_beta_GS: Transforming growth factor beta type I GS-motif (173 - 200)

Pkinase

Pkinase: Protein kinase domain (204 - 487)

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  • 503 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase receptor R3

TGF-B superfamily receptor type I

activin A receptor type II-like 1

activin A receptor type IL

activin A receptor, type II-like kinase 1

重组 ACVRL1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7480 ALK-1 Protein, Human (HEK293, Fc) P37023 (D22-Q118) ≥95%
HY-P72818 ALK-1 Protein, Human (HEK293, His) P37023 (D22-Q118) ≥95%
HY-P74418 ALK-1 Protein, Human (118a.a, HEK293, Fc) P37023 (M1-Q118) ≥95%

关联疾病

疾病名称 别名
Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Cavernous Angioma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

Juvenile Polyposis Syndrome

JPS

Juvenile Intestinal Polyposis

Jip

Pji

Juvenile Gastrointestinal Polyposis

Juvenile Polyposis

Polyposis, Juvenile Intestinal

Polyposis, Familial, Of Entire Gastrointestinal Tract

Polyposis Familial Of Entire Gastrointestinal Tract

Polyposis Juvenile Intestinal

Polyposis Syndrome, Juvenile

Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a

Multiple Pterygium Syndrome, Autosomal Dominant

CPSFS1A

Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a

Autosomal Dominant Disease

Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a

Cpskf1a

Pterygium Syndrome, Multiple

Autosomal Dominant

Arthrogryposis, Distal, Type 8, Formerly

Da8, Formerly

Autosomal Dominant Multiple Pterygium Syndrome

Distal Arthrogryposis Type 8

Arthrogryposis, Distal, Type 8

Da8

Pterygium Syndrome, Multiple, Autosomal Dominant

Autosomal Dominant Disorder

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

Lds

Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

Furlong Syndrome

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome

KTS

Ktw Syndrome

Angioosteohypertrophy Syndrome

Angio-Osteohypertrophy Syndrome

Klippel Trenaunay Syndrome

Klippel-Trénaunay-Weber Syndrome

Haemangiectatic Hypertrophy

Weber-Klippel-Trenaunay

Congenital Dysplastic Angiopathy

Klippel-Trenaunay Disease

Weber Klippel Trenaunay

Cardiovascular Organ Benign Neoplasm
Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension

Pah

Idiopathic Pulmonary Arterial Hypertension

Idiopathic Pulmonary Hypertension

Primary Pulmonary Hypertension

PPH1

Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

Pph

Familial Primary Pulmonary Hypertension

Sporadic Primary Pulmonary Hypertension

Pht

Fpah

Familial Pulmonary Arterial Hypertension

Hereditary Pulmonary Arterial Hypertension

Heritable Pulmonary Arterial Hypertension

Ayerza Syndrome

Fpph

Ppht

Ipah

Primary Pulmonary Arterial Hypertension

Pulmonary Hypertension, Familial Primary

Hypertension, Pulmonary, Primary, Type 1

Ayerza'S Syndrome

Pah - [Pulmonary Arterial Hypertension]

Arrillaga Ayerza Syndrome

Fumarate Hydratase Deficiency

Fumarase Deficiency

Fumaric Aciduria

Castleman Disease

Angiofollicular Ganglionic Hyperplasia

Angiofollicular Lymph Hyperplasia

Giant Lymph Node Hyperplasia

Castleman'S Disease

Angiofollicular Lymph Node Hyperplasia

Lymphoid Hamartoma

Benign Giant Lymphoma

Angiolymphoid Hyperplasia

Telangiectasis

Telangiectasia

Peripheral Vascular Disease

Peripheral Arterial Disease

Arterial Occlusive Disease

Arterial Occlusive Diseases

Pad

Peripheral Vascular Diseases

Peripheral Occlusive Disease

Peripheral Arterial Diseases

Helicobacter Infections

Hepatopulmonary Syndrome
Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Angiodysplasia

Angiodysplasia Of Colon

Angiodysplasia Of Stomach And Duodenum With Hemorrhage

Angiodysplasia Of Large Intestine

Telangiectasia Of Colon

Vascular Ectasia Of Colon

Av - [Angiodysplasia Malformation Of Colon]

Colon Angiodysplasia

Colonic Angiodysplasia

Vascular Ectasia Of Large Intestine

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Vascular Anomaly

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Telangiectasia, Hereditary Hemorrhagic, Type 1

Orw Disease

HHT1

Hht

Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber

Osler-Rendu-Weber Disease

Telangiectasia, Hereditary Hemorrhagic, 1

Hereditary Hemorrhagic Telangiectasia Of Rendu, Osler, And Weber

Orw1

Osler-Rendu-Weber Syndrome

Osler-Rendu-Weber Syndrome 1

Telangiectasia Hemorrhagic, Hereditary, Type 1

Hereditary Hemorrhagic Telangiectasia

Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome

Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome

JPHT

Jp/Hht Syndrome

Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia

Jps/Hht

Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli

Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation

Jp-Hht

JP/HHT

Polyposis, Juvenile/Hereditary Hemorrhagic Telangiectasia Syndrome

Lymphoproliferative Syndrome, X-Linked, 1

Lymphomatoid Papulosis

Duncan Disease

Purtilo Syndrome

X-Linked Lymphoproliferative Syndrome

Xlp

XLP1

Lyp

X-Linked Lymphoproliferative Disease

Lymphoproliferative Disease, X-Linked

Xlpd

X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency

Ebv Infection, Severe, Susceptibility To

Ebvs

Immunodeficiency 5

Imd5

X-Linked Lymphoproliferative Syndrome 1

Epstein-Barr Virus Infection, Familial Fatal

Ebv Infection, Severe

Infectious Mononucleosis, Severe

Infectious Mononucleosis, Severe, Susceptibility To

Immunodeficiency, X-Linked Progressive Combined Variable

Epstein Barr Virus Infection, Familial Fatal

X-Linked Progressive Combined Variable Immunodeficiency 5

Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males

Familial Fatal Epstein-Barr Infection

Severe Susceptibility To Ebv Infection

Severe Susceptibility To Infectious Mononucleosis

Sap Deficiency

Sh2d1a/Slam-Associated Protein Deficiency

X-Linked Lymphoproliferative Syndrome Type 1

X-Linked Progressive Combined Variable Immunodeficiency

Lymphoproliferative Syndrome, X-Linked

Sap

X-Linked Lymphoproliferative Disorder

Brachydactyly, Type A2

Brachydactyly Type A2

BDA2

Mohr-Wriedt Type Brachydactyly

Brachymesophalangy Ii

Brachymesophalangy Type 2

Brachymesophalangy 2

Brachydactyly, Mohr-Wriedt Type

Brachydactyly A2

Active Peptic Ulcer Disease

Gi Bleeding

Active Peptic Ulcer

Gastrointestinal Hemorrhage

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Hepatic Vascular Disease

Vascular Disorder Of Liver

Arteriovenous Malformation

Arteriovenous Malformations

Arteriovenous Hemangioma

Cirsoid Aneurysm

Racemose Aneurysm

Racemose Angioma

Racemose Hemangioma

Congenital Arteriovenous Malformation

Infiltrating Angiolipoma

Angiolipoma, Infiltrating

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease

Obstructive Disease Of The Pulmonary Veins

Pvod

Isolated Pulmonary Venous Sclerosis

Venous Form Of Primary Pulmonary Hypertension

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Weber Syndrome

Midbrain Stroke Syndromes

Heritable Pulmonary Arterial Hypertension

Fpah

Familial Pulmonary Arterial Hypertension

Hpah

Hereditary Pulmonary Arterial Hypertension

Familial Primary Pulmonary Hypertension

Telangiectasia, Hereditary Hemorrhagic, Type 2

HHT2

Hereditary Hemorrhagic Telangiectasia Type 2

Orw2

Osler Weber Rendu Syndrome Type 2

Telangiectasia Hereditary Hemorrhagic Type 2

Telangiectasia, Hereditary Hemorrhagic, 2

Telangiectasia, Hemorrhagic, Hereditary, Type 2

Osler-Rendu-Weber Syndrome 2

Chronic Pulmonary Heart Disease
Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Fumarase Deficiency

Fumaric Aciduria

FMRD

Fumarate Hydratase Deficiency

Deficiency, Fumarase

Sturge-Weber Syndrome

SWS

Encephalotrigeminal Angiomatosis

Encephalofacial Angiomatosis

Sturge-Weber-Dimitri Syndrome

Sturge-Weber-Krabbe Syndrome

Fourth Phacomatosis

Leptomeningeal Angiomatosis

Meningeal Capillary Angiomatosis

Sturge-Weber-Krabbe Angiomatosis

Sturge-Weber Syndrome, Somatic, Mosaic

Sws Type I - Facial And Leptomeningeal Angiomas

Sws Type Ii - Facial Angioma Alone, No Cns Involvement

Sws Type Iii - Isolated Leptomeningeal Angiomas

Sturge Weber Syndrome

Angiomatosis Aculoorbital-Thalamic Syndrome

Encephalofacial Hemangiomatosis

Encephalofacial Hemangiomatosis Syndrome

Meningo-Oculo-Facial Angiomatosis

Meningofacial Angiomatosis-Cerebral Calcification Syndrome

Neuroretinoangiomatosis

Phakomatosis, Sturge-Weber

Weber-Sturge-Dimitri Syndrome

Anaplastic Large Cell Lymphoma

Alcl

Cd30 Positive Anaplastic Large Cell Lymphoma

Ki-1 Positive Anaplastic Large Cell Lymphoma

Primary Systemic Alcl

Sacl

Ki-1+ Anaplastic Large Cell Lymphoma

Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension

Small Patella Syndrome

Ischiopatellar Dysplasia

Coxopodopatellar Syndrome

Scott-Taor Syndrome

Sps

Ischiocoxopodopatellar Syndrome

Patella Aplasia, Coxa Vara, And Tarsal Synostosis

ICPPS

Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis

Coxo-Podo-Patellar Syndrome

Patella Aplasia, Coxa Vara, Tarsal Synostosis

Coxopodipatellar Syndrome

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease

Hht

Osler-Weber-Rendu Disease

Telangiectasia, Hereditary Hemorrhagic

Osler Hemorrhagic Telangiectasia Syndrome

Orw Disease

Osler Weber Rendu Syndrome

Osler-Rendu-Weber Disease

Osler-Weber-Rendu Syndrome

Rendu-Osler Disease

Telangiectasia Hereditary Hemorrhagic

Telangiectasia Hemorrhagic, Hereditary

Hht - [Hereditary Haemorrhagic Telangiectasia]

Osler Haemorrhagic Telangiectasia Syndrome

Venous Malformations, Multiple Cutaneous And Mucosal

VMCM

Multiple Cutaneous And Mucosal Venous Malformations

Mucocutaneous Venous Malformations

Vmcm1

Cutaneous And Mucosal Venous Malformation

Dominantly Inherited Venous Malformations

Hemangioma Of Lung

Pulmonary Hemangioma

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Mixed Connective Tissue Disease

Sharp Syndrome

Mctd

Connective Tissue Disease Overlap Syndrome

Mixed Collagen Vascular Disease

Mctd - [Mixed Connective Tissue Disease]

Splenic Artery Aneurysm

Aneurysm Of Splenic Artery

Arteriovenous Malformations Of The Brain

Cerebral Arteriovenous Malformation

Intracranial Arteriovenous Malformation

Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To

Intracranial Arteriovenous Malformations

Bavm

Cerebral Arteriovenous Malformations

Intracranial Hemorrhage In Brain Cerebrovascular Malformations

Arteriovenous Malformation Of The Brain, Somatic

Intracranial Avm

Arteriovenous Malformations Cerebral

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
Macaca mulatta ACVRL1 VGNC VGNC:69451
Canis familiaris ACVRL1 VGNC VGNC:37566
Felis catus ACVRL1 VGNC VGNC:59567
Mus musculus ACVRL1 MGD MGI:1338946
Rattus norvegicus ACVRL1 RGD RGD:2029
Bos taurus ACVRL1 VGNC VGNC:25597
Macaca fascicularis ACVRL1 NCBI NCBI:102143641
Others ACVRL1 NCBI