Acvr1 (activin A receptor, type 1) - Rat Genome Database

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Gene: Acvr1 (activin A receptor, type 1) Mus musculus
Analyze
Symbol: Acvr1
Name: activin A receptor, type 1
RGD ID: 734161
MGI Page MGI
Description: Enables activin binding activity; transforming growth factor beta binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including BMP signaling pathway; heart development; and positive regulation of SMAD protein signal transduction. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and gastrulation. Located in apical part of cell and plasma membrane. Is expressed in several structures, including alimentary system; brain; limb; male reproductive gland or organ; and sensory organ. Used to study fibrodysplasia ossificans progressiva. Human ortholog(s) of this gene implicated in exfoliation syndrome; fibrodysplasia ossificans progressiva; primary angle-closure glaucoma; and primary open angle glaucoma. Orthologous to human ACVR1 (activin A receptor type 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: A; Ac; Act; activin receptor type I; activin receptor type-1; ActR-I; ActRIA; Acv; Acvr; Acvr1a; Acvrlk2; AL; Alk; Alk-2; ALK2; Alk8; D330013D15Rik; serine/threonine-protein kinase receptor R1; SK; SKR1; TGF-B superfamily receptor type I; Tsk; TSK-7L; Tsk7L; TSR-I
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39258,336,450 - 58,456,840 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl258,278,656 - 58,457,169 (-)EnsemblGRCm39 Ensembl
GRCm38258,446,438 - 58,566,828 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl258,388,644 - 58,567,157 (-)EnsemblGRCm38mm10GRCm38
MGSCv37258,298,849 - 58,419,239 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36258,261,824 - 58,331,545 (-)NCBIMGSCv36mm8
Celera260,202,316 - 60,294,260 (-)NCBICelera
Cytogenetic Map2C1.1NCBI
cM Map233.05NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (ISO)
acute inflammatory response  (IEP)
atrial septum primum morphogenesis  (IMP,ISO)
atrioventricular valve morphogenesis  (IMP)
BMP signaling pathway  (IBA,IMP,ISO)
branching involved in blood vessel morphogenesis  (IMP)
cardiac muscle cell fate commitment  (ISO)
cell surface receptor protein serine/threonine kinase signaling pathway  (IDA)
cellular response to BMP stimulus  (ISO)
cellular response to glucocorticoid stimulus  (ISO)
cellular response to growth factor stimulus  (IBA)
determination of left/right symmetry  (IMP)
dorsal/ventral pattern formation  (IBA)
embryonic heart tube morphogenesis  (ISO)
endocardial cushion cell fate commitment  (ISO)
endocardial cushion formation  (IMP)
endocardial cushion fusion  (IMP)
gastrulation  (IMP)
gastrulation with mouth forming second  (IMP)
germ cell development  (IMP)
heart development  (IBA,IMP)
in utero embryonic development  (IMP)
mesoderm development  (IMP)
mesoderm formation  (IMP)
mitral valve morphogenesis  (ISO)
negative regulation of activin receptor signaling pathway  (ISO)
negative regulation of extrinsic apoptotic signaling pathway  (ISO)
negative regulation of G1/S transition of mitotic cell cycle  (ISO)
negative regulation of signal transduction  (ISO)
neural crest cell migration  (IMP)
outflow tract septum morphogenesis  (IMP)
pharyngeal system development  (IMP)
positive regulation of bone mineralization  (ISO)
positive regulation of cardiac epithelial to mesenchymal transition  (IMP)
positive regulation of cell migration  (ISO)
positive regulation of determination of dorsal identity  (ISO)
positive regulation of DNA-templated transcription  (ISO)
positive regulation of osteoblast differentiation  (ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (ISO)
positive regulation of SMAD protein signal transduction  (IMP,ISO)
positive regulation of transcription by RNA polymerase II  (IMP,ISO)
regulation of ossification  (ISO)
regulation of skeletal muscle tissue development  (ISO)
smooth muscle cell differentiation  (IMP)
transforming growth factor beta receptor signaling pathway  (IBA,IDA,ISO,TAS)
urogenital system development  (ISO)
ventricular septum morphogenesis  (IMP)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal aortic arch and aortic arch branch attachment  (IAGP)
abnormal aortic arch morphology  (IAGP)
abnormal atrioventricular cushion morphology  (IAGP)
abnormal atrioventricular septum morphology  (IAGP)
abnormal atrioventricular valve development  (IAGP)
abnormal brachiocephalic trunk morphology  (IAGP)
abnormal brain development  (IAGP)
abnormal brainstem morphology  (IAGP)
abnormal cardiac epithelial to mesenchymal transition  (IAGP)
abnormal cardiac neural crest cell migration  (IAGP)
abnormal cardiac outflow tract development  (IAGP)
abnormal cartilage morphology  (IAGP)
abnormal cervical vertebrae morphology  (IAGP)
abnormal costovertebral joint morphology  (IAGP)
abnormal digit morphology  (IAGP)
abnormal ectoderm development  (IAGP)
abnormal embryo development  (IAGP)
abnormal embryonic epiblast morphology  (IAGP)
abnormal frontal bone squamous part morphology  (IAGP)
abnormal gastrulation  (IAGP)
abnormal glial cell physiology  (IAGP)
abnormal heart morphology  (IAGP)
abnormal joint mobility  (IAGP)
abnormal joint morphology  (IAGP)
abnormal long bone epiphyseal plate morphology  (IAGP)
abnormal malleus morphology  (IAGP)
abnormal mandible morphology  (IAGP)
abnormal mandibular fossa morphology  (IAGP)
abnormal Meckel's cartilage morphology  (IAGP)
abnormal mesoderm development  (IAGP)
abnormal motor capabilities/coordination/movement  (IAGP)
abnormal palatal shelf elevation  (IAGP)
abnormal phalanx morphology  (IAGP)
abnormal pharyngeal arch artery morphology  (IAGP)
abnormal primitive streak formation  (IAGP)
abnormal primitive streak morphology  (IAGP)
abnormal response to injury  (IAGP)
abnormal sixth pharyngeal arch artery morphology  (IAGP)
abnormal skeleton development  (IAGP)
abnormal suckling behavior  (IAGP)
abnormal third pharyngeal arch artery morphology  (IAGP)
abnormal vascular endothelial cell differentiation  (IAGP)
abnormal visceral endoderm morphology  (IAGP)
abnormal zygomatic arch morphology  (IAGP)
absent allantois  (IAGP)
absent amnion  (IAGP)
absent amniotic folds  (IAGP)
absent cardiac neural crest cells  (IAGP)
absent chorion  (IAGP)
absent mandibular symphysis  (IAGP)
absent mesoderm  (IAGP)
absent retrotympanic process  (IAGP)
absent temporal bone zygomatic process  (IAGP)
absent temporomandibular joint  (IAGP)
absent zygomatic bone  (IAGP)
ataxia  (IAGP)
atrial septal defect  (IAGP)
broad femur neck  (IAGP)
cardiovascular shunt  (IAGP)
cleft secondary palate  (IAGP)
conotruncal ridge hypoplasia  (IAGP)
decreased atrioventricular cushion size  (IAGP)
decreased cardiac neural crest cell number  (IAGP)
decreased embryo size  (IAGP)
decreased length of long bones  (IAGP)
decreased width of hypertrophic chondrocyte zone  (IAGP)
delayed palatal shelf elevation  (IAGP)
disorganized embryonic tissue  (IAGP)
ectopic bone  (IAGP)
edema  (IAGP)
embryonic growth arrest  (IAGP)
embryonic lethality between implantation and somite formation, complete penetrance  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
embryonic lethality prior to organogenesis  (IEA)
embryonic lethality prior to tooth bud stage  (IEA)
enlarged heart  (IAGP)
impaired cardiac neural crest cell differentiation  (IAGP)
increased apoptosis  (IAGP)
increased bone ossification  (IAGP)
increased brain tumor incidence  (IAGP)
increased chondrocyte proliferation  (IAGP)
increased circulating total protein level  (IEA)
increased glioma incidence  (IAGP)
increased heart right ventricle size  (IAGP)
increased inflammatory response  (IAGP)
increased oligodendrocyte number  (IAGP)
increased osteochondroma incidence  (IAGP)
large anterior fontanelle  (IAGP)
lethality throughout fetal growth and development, incomplete penetrance  (IAGP)
mandible hypoplasia  (IAGP)
muscle spasm  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
persistent truncus arteriosus  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
prenatal lethality, complete penetrance  (IAGP)
preweaning lethality, complete penetrance  (IEA)
preweaning lethality, incomplete penetrance  (IAGP)
retroesophageal right subclavian artery  (IAGP)
short femur  (IAGP)
short femur neck  (IAGP)
short humerus  (IAGP)
short malleus manubrium  (IAGP)
short mandible  (IAGP)
short metatarsal bones  (IAGP)
short radius  (IAGP)
short tibia  (IAGP)
shortened head  (IAGP)
skeletal muscle degeneration  (IAGP)
small mandibular coronoid process  (IAGP)
small temporal bone squamous part  (IAGP)
thick embryonic epiblast  (IAGP)
ventricular septal defect  (IAGP)
vertebral fusion  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Ovarian follicle populations of the rat express TGF-beta signalling pathways. Drummond AE, etal., Mol Cell Endocrinol. 2003 Apr 28;202(1-2):53-7.
2. Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients. Kaplan FS, etal., Am J Med Genet A. 2015 Oct;167A(10):2265-71. doi: 10.1002/ajmg.a.37205. Epub 2015 Jun 11.
3. Concomitant over-expression of activin/inhibin beta subunits and their receptors in human pancreatic cancer. Kleeff J, etal., Int J Cancer. 1998 Sep 11;77(6):860-8.
4. Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin. Kondkar AA, etal., BMC Med Genet. 2020 Jul 8;21(1):145. doi: 10.1186/s12881-020-01076-0.
5. Association of rs12997 variant in the ACVR1 gene: a member of bone morphogenic protein signaling pathway with primary open-angle glaucoma in a Saudi cohort. Kondkar AA, etal., J Investig Med. 2021 Feb;69(2):402-407. doi: 10.1136/jim-2020-001596. Epub 2020 Dec 21.
6. Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva. Kou S, etal., Orphanet J Rare Dis. 2020 Jul 29;15(1):193. doi: 10.1186/s13023-020-01465-x.
7. MGDs mouse GO annotations MGD data from the GO Consortium
8. MGD IEA MGD IEA
9. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
13. Mouse MP Annotation Import Pipeline RGD automated import pipeline
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. AcvR1-mediated BMP signaling in second heart field is required for arterial pole development: implications for myocardial differentiation and regional identity. Thomas PS, etal., Dev Biol. 2014 Jun 15;390(2):191-207. doi: 10.1016/j.ydbio.2014.03.008. Epub 2014 Mar 27.
17. Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development. Thomas PS, etal., PLoS One. 2012;7(4):e35539. doi: 10.1371/journal.pone.0035539. Epub 2012 Apr 19.
18. Loss of tubular bone morphogenetic protein-7 in diabetic nephropathy. Wang SN, etal., J Am Soc Nephrol. 2001 Nov;12(11):2392-9.
19. Inhibitory effects of tranilast on expression of transforming growth factor-beta isoforms and receptors in injured arteries. Ward MR, etal., Atherosclerosis. 1998 Apr;137(2):267-75. doi: 10.1016/s0021-9150(97)00275-x.
20. The tumor suppressor gene Trp53 protects the mouse lens against posterior subcapsular cataracts and the BMP receptor Acvr1 acts as a tumor suppressor in the lens. Wiley LA, etal., Dis Model Mech. 2011 Jul;4(4):484-95. doi: 10.1242/dmm.006593. Epub 2011 Apr 18.
21. Increased decidual mRNA expression levels of candidate maternal pre-eclampsia susceptibility genes are associated with clinical severity. Yong HE, etal., Placenta. 2014 Feb;35(2):117-24. doi: 10.1016/j.placenta.2013.11.008. Epub 2013 Nov 25.
22. Activin A improves the neurological outcome after ischemic stroke in mice by promoting oligodendroglial ACVR1B-mediated white matter remyelination. Zheng J, etal., Exp Neurol. 2021 Mar;337:113574. doi: 10.1016/j.expneurol.2020.113574. Epub 2020 Dec 18.
Additional References at PubMed
PMID:1326537   PMID:1646080   PMID:7577669   PMID:7639738   PMID:7813789   PMID:8388127   PMID:8605036   PMID:8889548   PMID:8959336   PMID:9303341   PMID:10226013   PMID:10349636  
PMID:10479450   PMID:10512203   PMID:10704880   PMID:10949078   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11290335   PMID:11376112   PMID:11471062   PMID:11747203   PMID:12054694  
PMID:12141440   PMID:12151307   PMID:12477932   PMID:12514121   PMID:12520002   PMID:12666204   PMID:14610273   PMID:14729481   PMID:15037318   PMID:15226263   PMID:15239668   PMID:15289457  
PMID:15342483   PMID:15489334   PMID:15531373   PMID:15840001   PMID:15913604   PMID:15963767   PMID:15963972   PMID:16140292   PMID:16141072   PMID:16141073   PMID:16157679   PMID:16384867  
PMID:16602821   PMID:17078885   PMID:17117439   PMID:17662325   PMID:18055048   PMID:18287559   PMID:18322278   PMID:18566469   PMID:18684712   PMID:18799693   PMID:18927151   PMID:19165826  
PMID:19224984   PMID:19335617   PMID:19369394   PMID:19733164   PMID:20130285   PMID:20406889   PMID:20436479   PMID:20445055   PMID:20463014   PMID:20628059   PMID:20663871   PMID:21267068  
PMID:21297076   PMID:21377447   PMID:21451961   PMID:21831921   PMID:21841161   PMID:21873635   PMID:21945937   PMID:22508565   PMID:22560297   PMID:23115204   PMID:23227223   PMID:23319608  
PMID:23485971   PMID:23572558   PMID:23595735   PMID:23680673   PMID:24085390   PMID:24116187   PMID:24141051   PMID:24194600   PMID:24244176   PMID:24347165   PMID:24449086   PMID:24491691  
PMID:24501215   PMID:24859004   PMID:24952961   PMID:25158006   PMID:25232183   PMID:25354296   PMID:25382630   PMID:25413979   PMID:25641697   PMID:25670795   PMID:25722188   PMID:25759071  
PMID:26083127   PMID:26116174   PMID:26148958   PMID:26333933   PMID:26407529   PMID:26873969   PMID:26896819   PMID:27029473   PMID:27048979   PMID:27068110   PMID:27626380   PMID:27881824  
PMID:28191871   PMID:28219934   PMID:28232325   PMID:28363632   PMID:28468752   PMID:28513105   PMID:28641928   PMID:28851540   PMID:28864813   PMID:29031500   PMID:29175363   PMID:29367466  
PMID:29396429   PMID:30142896   PMID:30227271   PMID:30379592   PMID:30519900   PMID:30548566   PMID:30698141   PMID:30698142   PMID:30833574   PMID:30854720   PMID:31098401   PMID:31311865  
PMID:31571391   PMID:31618630   PMID:31619522   PMID:31800957   PMID:32142668   PMID:32156482   PMID:32170006   PMID:32515349   PMID:33217406   PMID:33251612   PMID:33436499   PMID:33705358  
PMID:33741934   PMID:33851764   PMID:34206078   PMID:34321999   PMID:34490965   PMID:35503416   PMID:35637634   PMID:36116371   PMID:37607547   PMID:37680190   PMID:37759764  


Genomics

Comparative Map Data
Acvr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39258,336,450 - 58,456,840 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl258,278,656 - 58,457,169 (-)EnsemblGRCm39 Ensembl
GRCm38258,446,438 - 58,566,828 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl258,388,644 - 58,567,157 (-)EnsemblGRCm38mm10GRCm38
MGSCv37258,298,849 - 58,419,239 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36258,261,824 - 58,331,545 (-)NCBIMGSCv36mm8
Celera260,202,316 - 60,294,260 (-)NCBICelera
Cytogenetic Map2C1.1NCBI
cM Map233.05NCBI
ACVR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382157,736,446 - 157,876,330 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2157,736,251 - 157,876,330 (-)EnsemblGRCh38hg38GRCh38
GRCh372158,592,958 - 158,732,842 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362158,301,207 - 158,403,036 (-)NCBINCBI36Build 36hg18NCBI36
Build 342158,418,468 - 158,520,298NCBI
Celera2152,206,070 - 152,344,336 (-)NCBICelera
Cytogenetic Map2q24.1NCBI
HuRef2150,478,249 - 150,616,526 (-)NCBIHuRef
CHM1_12158,598,894 - 158,738,243 (-)NCBICHM1_1
T2T-CHM13v2.02158,189,880 - 158,329,404 (-)NCBIT2T-CHM13v2.0
Acvr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8363,387,378 - 63,506,980 (-)NCBIGRCr8
mRatBN7.2342,978,558 - 43,097,892 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl342,978,561 - 43,098,241 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx346,318,305 - 46,385,863 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0354,907,442 - 54,974,813 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0352,686,046 - 52,753,663 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0344,432,476 - 44,539,680 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl344,432,471 - 44,522,930 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0349,551,411 - 49,641,517 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4340,191,727 - 40,260,488 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1340,088,098 - 40,156,860 (-)NCBI
Celera341,046,965 - 41,113,654 (-)NCBICelera
Cytogenetic Map3q21NCBI
Acvr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544915,640,230 - 15,708,694 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544915,587,958 - 15,706,432 (+)NCBIChiLan1.0ChiLan1.0
ACVR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21360,399,806 - 60,481,894 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B60,414,781 - 60,553,730 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B44,994,175 - 45,133,490 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B162,234,823 - 162,372,533 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B162,234,823 - 162,297,805 (-)Ensemblpanpan1.1panPan2
ACVR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1363,743,257 - 3,818,659 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl363,744,163 - 3,818,652 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha363,880,162 - 4,006,562 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0363,865,484 - 3,991,973 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl363,865,493 - 3,946,584 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1363,867,397 - 3,993,826 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0363,927,214 - 4,053,637 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0363,965,356 - 4,091,837 (-)NCBIUU_Cfam_GSD_1.0
Acvr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303120,806,153 - 120,874,529 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646920,743,213 - 20,811,569 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646920,743,195 - 20,811,567 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACVR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1564,750,796 - 64,891,544 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11564,749,478 - 64,891,653 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21571,681,467 - 71,823,490 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACVR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11043,139,396 - 43,281,024 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1043,139,528 - 43,281,177 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040156,293,920 - 156,435,319 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acvr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247327,929,583 - 8,005,072 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247327,929,997 - 8,004,235 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Acvr1
4112 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1293
Count of miRNA genes:412
Interacting mature miRNAs:474
Transcripts:ENSMUST00000056376, ENSMUST00000090935, ENSMUST00000112599, ENSMUST00000112601, ENSMUST00000126407, ENSMUST00000145495
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1301769Orgwq2_morgan weight QTL 2 (mouse)Not determined2388712693421651Mouse
8552707Cia23_mcollagen induced arthritis QTL 23 (mouse)Not determined21212953766556453Mouse
1357881Estoq1_membryo survival total QTL 1 (mouse)Not determined220897778118894840Mouse
1357454Kidq1_mkidney weight QTL 1 (mouse)Not determined220897778118894840Mouse
1357436Splq1_mspleen weight QTL 1 (mouse)Not determined220897778118894840Mouse
39128209Lwq14_mliver weight QTL 14 (mouse)220897778118894840Mouse
1558899Egq1_mearly growth QTL 1 (mouse)Not determined220897778118894840Mouse
1558966W10q9_mweight 10 weeks QTL 9 (mouse)Not determined220897778118894840Mouse
1558915W3q1_mweight 3 weeks QTL 1 (mouse)Not determined220897778118894840Mouse
1558738W6q1_mweight 6 weeks QTL 1 (mouse)Not determined220897778118894840Mouse
1357681Hrtq1_mheart weight QTL 1 (mouse)Not determined220897778118894840Mouse
1302174Dssc2_mdextran sodium sulfate induced colitis QTL2 (mouse)Not determined224224632148700377Mouse
1300577Capsq1_mcapsaicin sensitivity related QTL 1 (mouse)Not determined22760206084013384Mouse
14746979Manh51_mmandible shape 51 (mouse)22896112962961129Mouse
14746997Mancz2_mmandible centroid size 2 (mouse)22896112962961129Mouse
4141854T2dm2sa_mtype 2 diabetes mellitus 2 in SMXA RI mice (mouse)Not determined229307947148374934Mouse
4141236Hbnr5_mHeligmosomoides bakeri nematode resistance 5 (mouse)Not determined31214567105143570Mouse
4142447Pbwg1.7_mpostnatal body weight growth 1.7 (mouse)Not determined3579732469797406Mouse
4141186Pbwg1.8_mpostnatal body weight growth 1.8 (mouse)Not determined3579732469797406Mouse
4142133Pbwg1.6_mpostnatal body weight growth 1.6 (mouse)Not determined3579732469797406Mouse
1559001Eae33_mexperimental allergic encephalomyelitis susceptibility 33 (mouse)Not determined23599167971609412Mouse
10449151Hdl8_mhigh density lipoprotein (HDL) level 8 (mouse)23812972567072607Mouse
10449150Pvldlc1_mplasma VLDL-cholesterol 1 (mouse)23812972567072607Mouse
10449145Lanq1_mlanosterol level QTL 1 (mouse)23812972567072607Mouse
11038703Ltpr1_mLeishmania tropica response 1 (mouse)23997166573971811Mouse
1301109Dntcs2_mdental caries susceptibility 2 (mouse)Not determined240885493114910165Mouse
1301480Pbwg1_mpostnatal body weight growth 1 (mouse)Not determined24182071975820843Mouse
4141069Pbwg1.5_mpostnatal body weight growth 1.5 (mouse)Not determined4352061277520756Mouse
1300788Cia2_mcollagen induced arthritis QTL 2 (mouse)Not determined24352061277520756Mouse
1300671Cia4_mcollagen induced arthritis QTL 4 (mouse)Not determined24352061277520756Mouse
1301402Ap2q_malcohol preference 2 QTL (mouse)Not determined24352061277520756Mouse
1301411Pitm1_mprion incubation time 1 (mouse)Not determined24352061277520756Mouse
10755532Lymph5_mlymphocyte differential 5 (mouse)24419901778199017Mouse
1300645Alcp1_malcohol preference locus 1 (mouse)Not determined24522812867838868Mouse
1301344Lith1_mlithogenic gene 1 (mouse)Not determined245347635145312647Mouse
11532740Pbwg1.10_mpostnatal body weight growth 1.10 (mouse)24813241282132495Mouse
1558820Moo1_mmodifier of Odc1 (mouse)Not determined174826974682269934Mouse
1301747Eae21_mexperimental allergic encephalomyelitis 21 (mouse)Not determined24826974682269934Mouse
1301235Alcw4_malcohol withdrawal 4 (mouse)Not determined24826974682269934Mouse
1300568Hdl1_mhigh density lipoprotein (HDL) level 1 (mouse)Not determined24826974682269934Mouse
10755526Lymph1_mlymphocyte differential 1 (mouse)25081931484819314Mouse
1300875Taste1_mtaste-saccharin preference 1 (mouse)Not determined25092317584923278Mouse
1300761Lgth1_mbody length 1 (mouse)Not determined25170327685703425Mouse
13464141Hbbcq3_mhemoglobin concentration QTL 3 (mouse)25244801986448136Mouse
13463471Hctq6_mhematocrit QTL 6 (mouse)25244801986448136Mouse
4142185Pbwg1.3_mpostnatal body weight growth 1.3 (mouse)Not determined5718712365132495Mouse
4141406Alpq2_malcohol preference QTL 2 (mouse)Not determined25752411791524288Mouse
12738429Lfibq18_mliver fibrosis QTL 18 (mouse)25791999191919991Mouse

Markers in Region
Acvr1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38258,447,641 - 58,448,363UniSTSGRCm38
MGSCv37258,300,052 - 58,300,774UniSTSGRCm37
Celera260,203,517 - 60,204,239UniSTS
Cytogenetic Map2C1.1UniSTS
cM Map2 UniSTS
BF401349  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38258,507,924 - 58,508,069UniSTSGRCm38
MGSCv37258,360,335 - 58,360,480UniSTSGRCm37
Celera260,264,292 - 60,264,437UniSTS
Cytogenetic Map2C1.1UniSTS
PMC202382P1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38258,447,198 - 58,447,376UniSTSGRCm38
MGSCv37258,299,609 - 58,299,787UniSTSGRCm37
Celera260,203,074 - 60,203,252UniSTS
Cytogenetic Map2C1.1UniSTS
Acvr1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2C1.1UniSTS
Acvr1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2C1.1UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001110204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001110205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001355048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001355049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006497622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF332087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF332088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK052246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK053428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK150014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK150075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL807788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ030975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L15436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSMUST00000056376   ⟹   ENSMUSP00000056784
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl258,337,161 - 58,457,169 (-)Ensembl
GRCm38.p6 Ensembl258,447,149 - 58,567,157 (-)Ensembl
RefSeq Acc Id: ENSMUST00000090935   ⟹   ENSMUSP00000088453
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl258,336,453 - 58,456,838 (-)Ensembl
GRCm38.p6 Ensembl258,446,441 - 58,566,826 (-)Ensembl
RefSeq Acc Id: ENSMUST00000112599   ⟹   ENSMUSP00000108218
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl258,336,446 - 58,406,284 (-)Ensembl
GRCm38.p6 Ensembl258,446,434 - 58,516,272 (-)Ensembl
RefSeq Acc Id: ENSMUST00000112601   ⟹   ENSMUSP00000108220
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl258,336,453 - 58,456,840 (-)Ensembl
GRCm38.p6 Ensembl258,446,441 - 58,566,828 (-)Ensembl
RefSeq Acc Id: ENSMUST00000126407   ⟹   ENSMUSP00000120755
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl258,367,770 - 58,428,450 (-)Ensembl
GRCm38.p6 Ensembl258,477,758 - 58,538,438 (-)Ensembl
RefSeq Acc Id: ENSMUST00000145495
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl258,278,656 - 58,406,284 (-)Ensembl
GRCm38.p6 Ensembl258,388,644 - 58,516,272 (-)Ensembl
RefSeq Acc Id: NM_001110204   ⟹   NP_001103674
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39258,336,450 - 58,456,840 (-)NCBI
GRCm38258,446,438 - 58,566,828 (-)ENTREZGENE
MGSCv37258,298,849 - 58,419,239 (-)RGD
Celera260,202,316 - 60,294,260 (-)RGD
cM Map2 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001110205   ⟹   NP_001103675
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39258,336,450 - 58,456,840 (-)NCBI
GRCm38258,446,438 - 58,566,828 (-)ENTREZGENE
MGSCv37258,298,849 - 58,419,239 (-)RGD
Celera260,202,316 - 60,294,260 (-)RGD
cM Map2 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001355048   ⟹   NP_001341977
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39258,336,450 - 58,451,422 (-)NCBI
GRCm38258,446,438 - 58,561,410 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001355049   ⟹   NP_001341978
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39258,336,450 - 58,451,422 (-)NCBI
GRCm38258,446,438 - 58,561,410 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007394   ⟹   NP_031420
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39258,336,450 - 58,456,840 (-)NCBI
GRCm38258,446,438 - 58,566,828 (-)ENTREZGENE
MGSCv37258,298,849 - 58,419,239 (-)RGD
Celera260,202,316 - 60,294,260 (-)RGD
cM Map2 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006497622   ⟹   XP_006497685
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39258,336,450 - 58,428,703 (-)NCBI
GRCm38258,446,444 - 58,538,774 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_031420   ⟸   NM_007394
- Peptide Label: precursor
- UniProtKB: Q3UDH5 (UniProtKB/Swiss-Prot),   Q91VF1 (UniProtKB/Swiss-Prot),   P37172 (UniProtKB/Swiss-Prot),   Q8C7A7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001103674   ⟸   NM_001110204
- Peptide Label: precursor
- UniProtKB: Q3UDH5 (UniProtKB/Swiss-Prot),   Q91VF1 (UniProtKB/Swiss-Prot),   P37172 (UniProtKB/Swiss-Prot),   Q8C7A7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001103675   ⟸   NM_001110205
- Peptide Label: precursor
- UniProtKB: Q3UDH5 (UniProtKB/Swiss-Prot),   Q91VF1 (UniProtKB/Swiss-Prot),   P37172 (UniProtKB/Swiss-Prot),   Q8C7A7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006497685   ⟸   XM_006497622
- Peptide Label: isoform X1
- UniProtKB: Q3UDH5 (UniProtKB/Swiss-Prot),   Q91VF1 (UniProtKB/Swiss-Prot),   P37172 (UniProtKB/Swiss-Prot),   Q8C7A7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341977   ⟸   NM_001355048
- Peptide Label: precursor
- UniProtKB: Q3UDH5 (UniProtKB/Swiss-Prot),   P37172 (UniProtKB/Swiss-Prot),   Q91VF1 (UniProtKB/Swiss-Prot),   Q8C7A7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001341978   ⟸   NM_001355049
- Peptide Label: precursor
- UniProtKB: Q3UDH5 (UniProtKB/Swiss-Prot),   P37172 (UniProtKB/Swiss-Prot),   Q91VF1 (UniProtKB/Swiss-Prot),   Q8C7A7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSMUSP00000088453   ⟸   ENSMUST00000090935
RefSeq Acc Id: ENSMUSP00000108218   ⟸   ENSMUST00000112599
RefSeq Acc Id: ENSMUSP00000108220   ⟸   ENSMUST00000112601
RefSeq Acc Id: ENSMUSP00000120755   ⟸   ENSMUST00000126407
RefSeq Acc Id: ENSMUSP00000056784   ⟸   ENSMUST00000056376
Protein Domains
Activin types I and II receptor   GS   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P37172-F1-model_v2 AlphaFold P37172 1-509 view protein structure

Promoters
RGD ID:6877360
Promoter ID:EPDNEW_M2131
Type:multiple initiation site
Name:Acvr1_1
Description:Mus musculus activin A receptor, type 1 , transcript variant3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M2132  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38258,517,717 - 58,517,777EPDNEW
RGD ID:6877396
Promoter ID:EPDNEW_M2132
Type:initiation region
Name:Acvr1_2
Description:Mus musculus activin A receptor, type 1 , transcript variant3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M2131  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38258,566,812 - 58,566,872EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:87911 AgrOrtholog
Ensembl Genes ENSMUSG00000026836 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000056376 ENTREZGENE
  ENSMUST00000056376.12 UniProtKB/Swiss-Prot
  ENSMUST00000090935 ENTREZGENE
  ENSMUST00000090935.9 UniProtKB/Swiss-Prot
  ENSMUST00000112599.8 UniProtKB/Swiss-Prot
  ENSMUST00000112601 ENTREZGENE
  ENSMUST00000112601.9 UniProtKB/Swiss-Prot
  ENSMUST00000126407.2 UniProtKB/TrEMBL
Gene3D-CATH 2.10.60.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Activin_recp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Snake_toxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFB_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:11477 UniProtKB/Swiss-Prot
MGD MGI:87911 ENTREZGENE
NCBI Gene 11477 ENTREZGENE
PANTHER ACTIVIN RECEPTOR TYPE-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Activin_recp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot
  TGF_beta_GS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Acvr1 PhenoGen
PRINTS ACTIVIN2R UniProtKB/Swiss-Prot
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS51256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACVR1_MOUSE UniProtKB/Swiss-Prot
  B1AW87_MOUSE UniProtKB/TrEMBL
  P37172 ENTREZGENE
  Q3UDH5 ENTREZGENE
  Q8C7A7 ENTREZGENE, UniProtKB/TrEMBL
  Q91VF1 ENTREZGENE
UniProt Secondary Q3UDH5 UniProtKB/Swiss-Prot
  Q91VF1 UniProtKB/Swiss-Prot