1. Gene
  2. ACVR1 - activin A receptor type 1 Gene

ACVR1 - activin A receptor type 1 Gene

Homo sapiens

Also known as FOP; ALK2; SKR1; TSRI; ACTRI; ACVR1A; ACVRLK2

Gene ID: 90 | Gene type: protein coding

About ACVR1

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:157,736,446-157,876,330 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 SMAD binding IDA
IDA: Inferred from direct assay
12065756 GOA
enables activin binding IDA
IDA: Inferred from direct assay
8242742 GOA
contributes to activin receptor activity, type I IDA
IDA: Inferred from direct assay
8242742 GOA
enables cadherin binding IPI
IPI: Inferred from physical interaction
26598555 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8242742 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
18436533 GOA
enables protein kinase activity IDA
IDA: Inferred from direct assay
19736306 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
12065756 GOA
enables protein tyrosine kinase binding IPI
IPI: Inferred from physical interaction
26598555 GOA
enables transforming growth factor beta binding IDA
IDA: Inferred from direct assay
8242742 GOA
enables transmembrane receptor protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
19506109 GOA
Biological Process GO Annotation Evidence Reference Source
involved in BMP signaling pathway IDA
IDA: Inferred from direct assay
12065756 GOA
involved in activin receptor signaling pathway IDA
IDA: Inferred from direct assay
19506109 GOA
involved in activin receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
18326817 GOA
involved in atrial septum primum morphogenesis IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in cardiac muscle cell fate commitment IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in cellular response to BMP stimulus IMP
IMP: Inferred from mutant phenotype
18326817 GOA
involved in embryonic heart tube morphogenesis IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in endocardial cushion cell fate commitment IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in mitral valve morphogenesis IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in negative regulation of G1/S transition of mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
9884026 GOA
involved in negative regulation of activin receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
9884026 GOA
involved in negative regulation of extrinsic apoptotic signaling pathway IMP
IMP: Inferred from mutant phenotype
9884026 GOA
involved in negative regulation of signal transduction IMP
IMP: Inferred from mutant phenotype
9884026 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
8242742 GOA
involved in positive regulation of SMAD protein signal transduction IDA
IDA: Inferred from direct assay
19506109 GOA
involved in positive regulation of bone mineralization IMP
IMP: Inferred from mutant phenotype
18436533 GOA
involved in positive regulation of cell migration IGI
IGI: Inferred from genetic interaction
19736306 GOA
involved in positive regulation of determination of dorsal identity IDA
IDA: Inferred from direct assay
19506109 GOA
involved in positive regulation of osteoblast differentiation IMP
IMP: Inferred from mutant phenotype
18436533 GOA
involved in positive regulation of peptidyl-tyrosine phosphorylation IMP
IMP: Inferred from mutant phenotype
26598555 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
19506109 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
18326817 GOA
involved in regulation of ossification IMP
IMP: Inferred from mutant phenotype
16642017 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
8242742 GOA
Cellular Component GO Annotation Evidence Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACVR1 Protein Structure

Activin_recp

Activin_recp: Activin types I and II receptor domain (33 - 105)

TGF_beta_GS

TGF_beta_GS: Transforming growth factor beta type I GS-motif (178 - 206)

Pkinase

Pkinase: Protein kinase domain (209 - 493)

  • 0
  • 100
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  • 400
  • 509 a.a.
Protein Preferred Names Protein Names

activin receptor type-1

TGF-B superfamily receptor type I

activin A receptor, type I

activin A receptor, type II-like kinase 2

activin receptor type I

activin receptor-like kinase 2

hydroxyalkyl-protein kinase

serine/threonine-protein kinase receptor R1

Recombinant ACVR1 Proteins

Cat. No. Product Name Accession Purity
HY-P7482 Activin RIA Protein, Human (HEK293, His) Q04771 (M21-V124) ≥95%
HY-P72812 Activin RIA Protein, Human (HEK293, His-Fc) Q04771 (M21-V124) ≥95%

Related Diseases

Diseases Alias
Epicanthus
Brachydactyly, Type E2

Brachydactyly Type E2

BDE2

Brachydactyly E2

Proximal Symphalangism

Cushing'S Symphalangism

Symphalangism, Proximal

Hereditary Absence Of Proximal Interphalangeal Joints

Strasburger-Hawkins-Eldridge Syndrome

Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome

Symphalangism, Proximal, 1a

Symphalangism, Proximal, 1b

Vessel'S Syndrome

Symphalangism, Cushing Type

Diffuse Midline Glioma, H3 K27m-Mutant

Diffuse Intrinsic Pontine Glioma

Dipg

Infiltrative Brainstem Glioma

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

Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening

Persistent Mullerian Duct Syndrome

Persistent Müllerian Duct Syndrome

Pmds

Persistent Oviduct Syndrome

Persistent Muellerian Duct Syndrome

Female Genital Ducts In Otherwise Normal Male

Hernia Uteri Inguinale

Persistent Mullerian Duct Syndrome, Types 1 And 2

Persistent Mullerian Derivatives

Brain Stem Cancer

Brain Stem Neoplasms

Malignant Neoplasm Of Brain Stem

Malignant Neoplasm Of Brainstem

Neoplasm Of Adult Brain Stem

Neoplasm Of Brain Stem

Primary Brain Stem Neoplasm

Primary Brain Stem Tumor

Brain Stem Neoplasm

Brain Stem--Cancer

Brain Stem Neoplasms, Primary

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia

CMDD

Cmdj

Cmd

Autosomal Dominant Craniometaphyseal Dysplasia

Craniometaphyseal Dysplasia, Jackson Type

Craniometaphyseal Dysplasia Jackson Type

Autosomal Recessive Craniometaphyseal Dysplasia

Cmdr

Dysplasia, Craniometaphyseal, Autosomal Dominant

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva

Progressive Myositis Ossificans

FOP

Progressive Ossifying Myositis

Myositis Ossificans

Stone Man Syndrome

Man Of Stone

Myositis Ossificans Progressive

Diffuse Progressive Ossifying Polymyositis

Fibrodysplasia Ossificans Congenita

Myositis Ossificans Progressiva, Site Unspecified

Münchmeyer Disease

Fop - [Fibrodysplasia Ossificans Progressiva]

Progressive Myositis Ossificans Calcification

Diffuse Idiopathic Skeletal Hyperostosis

Hyperostosis, Diffuse Idiopathic Skeletal

Ankylosing Vertebral Hyperostosis

Dish

Disseminated Idiopathic Skeletal Hyperostosis

Forestier Disease

Forestier'S Disease

Hyperostosis Diffuse Idiopathic Skeletal

Leber Congenital Amaurosis 17

LCA17

Leber Congenital Amaurosis, Type 17

Microphthalmia, Syndromic 6

MCOPS6

Microphthalmia And Pituitary Anomalies

Microphthalmia With Brain And Digit Anomalies

Microphthalmia With Brain And Digit Developmental Anomalies

Syndromic Microphthalmia Type 6

Syndromic Microphthalmia 6

Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia

Bakrania-Ragge Syndrome

Orofacial Cleft 11

Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia

Microphthalmia Syndromic 6

Microphthalmia, Syndromic, 6

Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia

Microphthalmia Syndromic, Type 6

Childhood Brain Stem Glioma

Pediatric Glioma Of The Brainstem

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Atrioventricular Septal Defect

AVSD

Atrioventricular Canal Defect

Avcd

Endocardial Cushion Defect

Ecd

Avc Defect

Atrioventricular Septal Defect, Susceptibility To, 1

Atrioventricular Septal Defect 1

Endocardial Cushion Defects

Septal Defect, Atrioventricular

Atrioventricular Defect With Atrial Shunting Only

Incomplete Atrioventricular Septal Defect With Isolated Atrial Component

Incomplete Atrioventricular Canal Defect With Isolated Atrial Component

Primum Atrial Septal Defect

Partial Atrioventricular Canal Defect With Isolated Atrial Component

Partial Atrioventricular Septal Defect, Ostium Primum Type

Ostium Primum Atrial Septal Defect

Partial Atrioventricular Canal Defect

Partial Atrioventricular Septal Defect

Atrial Septum Primum Defect

Atrioventricular Canal Defect With Isolated Ventricular Component

Atrioventricular Canal Defect With Isolated Ventricular Communication

Atrioventricular Septal Defect With Isolated Ventricular Component

Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting

Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve

Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves

Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect

Intermediate Atrioventricular Canal Defect

Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices

Intermediate Atrioventricular Septal Defect

Transitional Atrioventricular Canal Defect

Transitional Atrioventricular Septal Defect

Complete Atrioventricular Canal With Atrial And Ventricular Components

Complete Atrioventricular Canal Defect

Complete Atrioventricular Septal Defect

Pseudohypoparathyroidism, Type Ia

Albright'S Hereditary Osteodystrophy

Albright Hereditary Osteodystrophy

Pseudohypoparathyroidism Type 1a

PHP1A

Albright Hereditary Osteodystrophy With Multiple Hormone Resistance

Pseudohypoparathyroidism Ia

AHO

Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy

Pseudo-Pseudohypoparathyroidism

Pseudohypoparathyroidism Type I A

Php Ia

Pseudopseudohypoparathyroidism

Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

Pphp

Pseudopseudo-Hypoparathyroidism

Aho-Php Syndrome Ia

Albright Hereditary Osteodystrophy-Php Syndrome Ia

Pseudohypoparathyroidism 1a

Pseudohypoparathyroidism

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Heel Spur

Calcaneal Spur

Brain Stem Glioma

Brainstem Neuroglial Tumor

Brainstem Glioma

Glioma Of Brainstem

Chronic Pulmonary Heart Disease
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

Camurati-Engelmann Disease

Progressive Diaphyseal Dysplasia

Ced

Engelmann Disease

Diaphyseal Dysplasia 1, Progressive

Pdd

Diaphyseal Dysplasia

Dpd1

Camurati-Engelmann Syndrome

CAEND

Engelman'S Disease

Diaphyseal Hyperostosis

Diaphyseal Osteosclerosis

Ankylosis
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

Myositis Ossificans

Myisitis Ossificans

Ossification - Muscle

Synostoses, Tarsal, Carpal, And Digital

Calcaneonavicular Coalition

Multiple Synostosis Syndrome

Synostoses, Tarsal, Carpal And Digital

Histone Mutated Tumor

Histone Mutated Tumour

Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21

Gastric Adenocarcinoma

Adenocarcinoma Of Stomach

Stomach Adenocarcinoma

Adenocarcinoma Gastric

Intestinal Type Adenocarcinoma Of Unspecified Site

Diffuse Type Adenocarcinoma Of Unspecified Site

Osseous Heteroplasia, Progressive

Progressive Osseous Heteroplasia

POH

Osteoma Cutis

Familial Ectopic Ossification

Ectopic Ossification Familial Type

Ectopic Ossification

Heterotopic Ossification

Ectopic Ossification, Familial

Cutaneous Ossification

Myositis Ossificans Progressiva

Osteodermia

Osteosis Cutis

Ossification Heterotopic

Heteroplasia, Osseous, Progressive

Fibrodysplasia Ossificans Progressiva

Tarsal-Carpal Coalition Syndrome

TCC

Tarsal Carpal Coalition Syndrome

Nog-Related-Symphalangism Spectrum 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

Brachydactyly, Type B2

Brachydactyly Type B2

BDB2

Brachydactyly B2

Arteriovenous Malformation

Arteriovenous Malformations

Arteriovenous Hemangioma

Cirsoid Aneurysm

Racemose Aneurysm

Racemose Angioma

Racemose Hemangioma

Congenital Arteriovenous Malformation

Hemochromatosis Type 2

Juvenile Hemochromatosis

Juvenile Hereditary Hemochromatosis

Hfe2

Jhh

Hemochromatosis Juvenile

Iron Overload Disease Juvenile

Hemochromatosis, Juvenile

Hemochromatosis, Type 2

Hemochromatosis

Hemochromatosis, Type 1

Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect

Taussig-Bing Syndrome

Dextrotransposition Of Aorta

Taussig-Bing Syndrome Or Defect

Dorv

Dorv With Subpulmonary Vsd

Dorv-Tga

Double Outlet Right Ventricle With Transposition Of The Great Arteries

Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type

Taussig-Bing Heart

Taussig-Bing Malformation

Taussig-Bing Complex

Taussig-Bing Defect

Taussig-Bing

Double Outlet Right Ventricle With Remote Ventricular Septal Defect

Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect

Double Outlet Right Ventricle With Non-Committed Interventricular Communication

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Diseases Alias
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

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
Macaca fascicularis ACVR1 NCBI NCBI:102134051
Others ACVR1 NCBI