ACVR1 - activin A receptor type 1 Gene
Also Known as FOP; ALK2; SKR1; TSRI; ACTRI; ACVR1A; ACVRLK2
Species: Homo sapiens
About ACVR1
This gene has 26 transcripts (splice variants), 174 orthologues, 11 paralogues and is associated with 77 phenotypes. Ubiquitous expression in thyroid (RPKM 15.1), gall bladder (RPKM 9.4) and 23 other tissues.
Summary
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes Activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
ACVR1 Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001347667.2 | NP_001334596.1 | activin receptor type-1 precursor |
| NM_001347664.1 | NP_001334593.1 | activin receptor type-1 precursor |
| NM_001111067.4 | NP_001104537.1 | activin receptor type-1 precursor |
| NM_001105.5 | NP_001096.1 | activin receptor type-1 precursor |
| NM_001347663.1 | NP_001334592.1 | activin receptor type-1 precursor |
| NM_001347666.1 | NP_001334595.1 | activin receptor type-1 precursor |
| NM_001347665.1 | NP_001334594.1 | activin receptor type-1 precursor |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of activin receptor complex |
IDA
IDA: Inferred from direct assay
|
8242742 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
8242742 | GOA |
ACVR1 Protein Structure
Activin_recp: Activin types I and II receptor domain (33 - 105)
TGF_beta_GS: Transforming growth factor beta type I GS-motif (178 - 206)
Pkinase: Protein kinase domain (209 - 493)
- 0
- 100
- 200
- 300
- 400
- 509 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
activin receptor type-1 |
|
|
Recombinant ACVR1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7482 | Activin RIA Protein, Human (HEK293, His) | Q04771 (M21-V124) | ≥ 80%, as determined by reducing SDS-PAGE. |
| HY-P72812 | Activin RIA Protein, Human (HEK293, His-Fc) | Q04771 (M21-V124) | ≥ 95%, as determined by reducing SDS-PAGE. |
ACVR1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82249 | Activin Receptor Type IA Antibody (YA1994) | WB, IP | Human, Mouse |
| HY-P82249A | Activin Receptor Type IA Antibody (YA1994)(PBS only) | WB, IP | Human, Mouse |
| HY-P83198 | Activin Receptor Type I Antibody (YA2943) | WB, IP | Human, Mouse, Rat |
| HY-P84482 | ACVR1 Antibody (YA4179) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84482A | ACVR1 Antibody (YA4179)(PBS only) | IHC-P, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Epicanthus |
|
|
| Brachydactyly, Type E2 |
|
|
| Proximal Symphalangism |
|
|
| Diffuse Midline Glioma, H3 K27m-Mutant |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
|
| Hyperostosis |
|
|
| Persistent Mullerian Duct Syndrome |
|
|
| Brain Stem Cancer |
|
|
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
|
| Fibrodysplasia Ossificans Progressiva |
|
|
| Diffuse Idiopathic Skeletal Hyperostosis |
|
|
| Leber Congenital Amaurosis 17 |
|
|
| Microphthalmia, Syndromic 6 |
|
|
| Childhood Brain Stem Glioma |
|
|
| Breast Cancer |
|
|
| Atrioventricular Septal Defect |
|
|
| Pseudohypoparathyroidism, Type Ia |
|
|
| Aortic Valve Disease 1 |
|
|
| Pulmonary Hypertension |
|
|
| Heel Spur |
|
|
| Brain Stem Glioma |
|
|
| Chronic Pulmonary Heart Disease |
|
|
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
|
| Camurati-Engelmann Disease |
|
|
| Ankylosis |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
|
| Myositis Ossificans |
|
|
| Synostoses, Tarsal, Carpal, And Digital |
|
|
| Histone Mutated Tumor |
|
|
| Joubert Syndrome 21 |
|
|
| Gastric Adenocarcinoma |
|
|
| Osseous Heteroplasia, Progressive |
|
|
| Tarsal-Carpal Coalition Syndrome |
|
|
| Brachydactyly, Type A2 |
|
|
| Brachydactyly, Type B2 |
|
|
| Arteriovenous Malformation |
|
|
| Hemochromatosis Type 2 |
|
|
| Double Outlet Right Ventricle |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | ACVR1 | VGNC | VGNC:37561 |
| Mus musculus | ACVR1 | MGD | MGI:87911 |
| Macaca mulatta | ACVR1 | VGNC | VGNC:69438 |
| Rattus norvegicus | ACVR1 | RGD | RGD:620200 |
| Felis catus | ACVR1 | VGNC | VGNC:59562 |
| Bos taurus | ACVR1 | VGNC | VGNC:25592 |
| Others | ACVR1 | NCBI |