ACVRL1 - activin A receptor like type 1 Gene
Also Known as HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1
Species: Homo sapiens
About ACVRL1
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.
Summary
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 Products (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 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ATP binding |
IDA
IDA: Inferred from direct assay
|
12065756 | GOA |
| enables BMP receptor activity |
IDA
IDA: Inferred from direct assay
|
12065756 | GOA |
| enables BMP receptor activity |
IGI
IGI: Inferred from genetic interaction
|
32082362 | GOA |
| enables BMP receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
26176610 | GOA |
| enables SMAD binding |
IDA
IDA: Inferred from direct assay
|
12065756 | GOA |
| enables activin binding |
IDA
IDA: Inferred from direct assay
|
8242742 | GOA |
| enables activin receptor activity, type I |
IDA
IDA: Inferred from direct assay
|
8242742 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
8242742 | GOA |
| enables protein kinase binding |
IPI
IPI: Inferred from physical interaction
|
19592636 | GOA |
| enables protein serine/threonine kinase activity |
IDA
IDA: Inferred from direct assay
|
12065756 | GOA |
| enables transforming growth factor beta binding |
IPI
IPI: Inferred from physical interaction
|
8242742 | GOA |
| enables transforming growth factor beta receptor activity |
IDA
IDA: Inferred from direct assay
|
8242742 | GOA |
| enables transforming growth factor beta receptor activity, type I |
IDA
IDA: Inferred from direct assay
|
8242742 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
8242742 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
8242742 | GOA |
ACVRL1 Protein Structure
Activin_recp: Activin types I and II receptor domain (32 - 100)
TGF_beta_GS: Transforming growth factor beta type I GS-motif (173 - 200)
Pkinase: Protein kinase domain (204 - 487)
- 0
- 100
- 200
- 300
- 400
- 503 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
serine/threonine-protein kinase receptor R3 |
|
|
ACVRL1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ACVRL1 | P37023 | PDXDC2P | Homo sapiens | Q6P474 | 33961781 | |
|
Intra
|
ACVRL1 | P37023 | PDXDC2P | Homo sapiens | Q6P474 | 28514442 | |
|
Intra
|
ACVRL1 | P37023 | Q9UK05-PRO_0000033903 | Homo sapiens | Q9UK05-PRO_0000033903 | 28564608 | |
|
Intra
|
ACVRL1 | P37023 | LRG1 | Homo sapiens | P02750 | 23868260 |
Recombinant ACVRL1 Proteins
| Cat. No. | 상품명 | Accession | Purity |
|---|---|---|---|
| HY-P7480 | ALK-1 Protein, Human (HEK293, Fc) | P37023 (D22-Q118) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72818 | ALK-1 Protein, Human (HEK293, His) | P37023 (D22-Q118) | ≥ 90%, as determined by reducing SDS-PAGE. |
ACVRL1 Antibodies
| Cat. No. | 상품명 | 신청 | Reactivity |
|---|---|---|---|
| HY-P810842 | ALK1 Antibody | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P82712 | ALK-1 Antibody (YA2457) | WB | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cerebral Cavernous Malformations |
|
|
| Juvenile Polyposis Syndrome |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
|
| Loeys-Dietz Syndrome |
|
|
| Klippel-Trenaunay-Weber Syndrome |
|
|
| Cardiovascular Organ Benign Neoplasm |
|
|
| Pulmonary Hypertension, Primary, 1 |
|
|
| Fumarate Hydratase Deficiency |
|
|
| Castleman Disease |
|
|
| Telangiectasis |
|
|
| Peripheral Vascular Disease |
|
|
| Hepatopulmonary Syndrome |
|
|
| Embryonal Rhabdomyosarcoma |
|
|
| Angiodysplasia |
|
|
| Connective Tissue Disease |
|
|
| Vascular Disease |
|
|
| Pulmonary Hypertension |
|
|
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
|
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
|
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
|
| Brachydactyly, Type A2 |
|
|
| Active Peptic Ulcer Disease |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Hepatic Vascular Disease |
|
|
| Arteriovenous Malformation |
|
|
| Infiltrating Angiolipoma |
|
|
| Pulmonary Venoocclusive Disease |
|
|
| Weber Syndrome |
|
|
| Heritable Pulmonary Arterial Hypertension |
|
|
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
|
| Chronic Pulmonary Heart Disease |
|
|
| Patent Foramen Ovale |
|
|
| Fumarase Deficiency |
|
|
| Sturge-Weber Syndrome |
|
|
| Anaplastic Large Cell Lymphoma |
|
|
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
|
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
|
| Hemangioma Of Lung |
|
|
| Thrombocytopenia |
|
|
| Mixed Connective Tissue Disease |
|
|
| Splenic Artery Aneurysm |
|
|
| Arteriovenous Malformations Of The Brain |
|
|
Orthologs Information
| Species | Symbol | Source | 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 |
| Others | ACVRL1 | NCBI |