Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	90
Gene name	Activin A receptor type 1
Gene symbol	ACVR1
Synonyms (NCBI Gene)	ACTRIACVR1AACVRLK2ALK2FOPSKR1TSRI
Chromosome	2
Chromosome location	2q24.1
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 i

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912678	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121912679	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912680	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs387906588	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs387906589	C>A,T	Pathogenic, other, likely-pathogenic	Coding sequence variant, missense variant
rs387906590	C>G	Pathogenic	Coding sequence variant, missense variant
rs387906591	C>A	Pathogenic	Coding sequence variant, missense variant
rs797045135	A>G	Pathogenic	Coding sequence variant, missense variant
rs863224846	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs1057519875	C>A	Likely-pathogenic	Missense variant, coding sequence variant

244

Show/Hide all (244)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000216	hsa-miR-197-3p	MicroarrayqRT-PCR	16822819
MIRT006946	hsa-miR-148a-3p	Luciferase reporter assay	22408438
MIRT007141	hsa-miR-130a-3p	qRT-PCR	23418453
MIRT018362	hsa-miR-335-5p	Microarray	18185580
MIRT020339	hsa-miR-130b-3p	Sequencing	20371350
MIRT021192	hsa-miR-186-5p	Sequencing	20371350
MIRT031253	hsa-miR-19b-3p	Sequencing	20371350
MIRT054060	hsa-miR-148b-3p	Luciferase reporter assayqRT-PCR	23227223
MIRT054060	hsa-miR-148b-3p	Luciferase reporter assayqRT-PCR	23227223
MIRT054061	hsa-miR-365a-3p	Luciferase reporter assayqRT-PCR	23227223
MIRT054061	hsa-miR-365a-3p	Luciferase reporter assayqRT-PCR	23227223
MIRT054062	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCR	23227223
MIRT054123	hsa-let-7b-5p	Luciferase reporter assayMicroarrayqRT-PCR	22995917
MIRT689094	hsa-miR-4310	HITS-CLIP	23313552
MIRT689093	hsa-miR-7157-5p	HITS-CLIP	23313552
MIRT689092	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT689091	hsa-miR-1972	HITS-CLIP	23313552
MIRT689090	hsa-miR-4650-5p	HITS-CLIP	23313552
MIRT689089	hsa-miR-338-3p	HITS-CLIP	23313552
MIRT689088	hsa-miR-4638-3p	HITS-CLIP	23313552
MIRT689087	hsa-miR-7977	HITS-CLIP	23313552
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT549437	hsa-miR-3666	PAR-CLIP	21572407
MIRT549436	hsa-miR-4295	PAR-CLIP	21572407
MIRT549435	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT549434	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT007141	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020339	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT549433	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT006946	hsa-miR-148a-3p	Luciferase reporter assayqRT-PCR	25271001
MIRT006946	hsa-miR-148a-3p	Luciferase reporter assayqRT-PCR	25271001
MIRT689094	hsa-miR-4310	HITS-CLIP	23313552
MIRT689093	hsa-miR-7157-5p	HITS-CLIP	23313552
MIRT689092	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT689091	hsa-miR-1972	HITS-CLIP	23313552
MIRT689090	hsa-miR-4650-5p	HITS-CLIP	23313552
MIRT689089	hsa-miR-338-3p	HITS-CLIP	23313552
MIRT689088	hsa-miR-4638-3p	HITS-CLIP	23313552
MIRT689087	hsa-miR-7977	HITS-CLIP	23313552
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT549437	hsa-miR-3666	PAR-CLIP	21572407
MIRT549436	hsa-miR-4295	PAR-CLIP	21572407
MIRT549435	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT549434	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT007141	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020339	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT549433	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT764851	hsa-miR-1237	CLIP-seq
MIRT764852	hsa-miR-1248	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT764854	hsa-miR-549	CLIP-seq
MIRT764855	hsa-miR-1184	CLIP-seq
MIRT764856	hsa-miR-1205	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764851	hsa-miR-1237	CLIP-seq
MIRT764858	hsa-miR-1246	CLIP-seq
MIRT764852	hsa-miR-1248	CLIP-seq
MIRT764859	hsa-miR-128	CLIP-seq
MIRT764860	hsa-miR-1293	CLIP-seq
MIRT764861	hsa-miR-203	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT764863	hsa-miR-2110	CLIP-seq
MIRT764864	hsa-miR-27a	CLIP-seq
MIRT764865	hsa-miR-27b	CLIP-seq
MIRT764866	hsa-miR-2964a-5p	CLIP-seq
MIRT764867	hsa-miR-3117-5p	CLIP-seq
MIRT764868	hsa-miR-3134	CLIP-seq
MIRT764869	hsa-miR-3150a-3p	CLIP-seq
MIRT764870	hsa-miR-3158-5p	CLIP-seq
MIRT764871	hsa-miR-330-3p	CLIP-seq
MIRT764872	hsa-miR-365	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT764874	hsa-miR-4260	CLIP-seq
MIRT764875	hsa-miR-4302	CLIP-seq
MIRT764876	hsa-miR-4312	CLIP-seq
MIRT764877	hsa-miR-4320	CLIP-seq
MIRT764878	hsa-miR-4419a	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764880	hsa-miR-4474-5p	CLIP-seq
MIRT764881	hsa-miR-4483	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764883	hsa-miR-4510	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT764886	hsa-miR-4728-5p	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT764887	hsa-miR-513a-5p	CLIP-seq
MIRT764888	hsa-miR-514	CLIP-seq
MIRT764889	hsa-miR-514b-3p	CLIP-seq
MIRT764890	hsa-miR-526b	CLIP-seq
MIRT764891	hsa-miR-593	CLIP-seq
MIRT764892	hsa-miR-876-3p	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764860	hsa-miR-1293	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT764866	hsa-miR-2964a-5p	CLIP-seq
MIRT1925345	hsa-miR-3611	CLIP-seq
MIRT764872	hsa-miR-365	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT1925346	hsa-miR-3662	CLIP-seq
MIRT1925347	hsa-miR-3977	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764881	hsa-miR-4483	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT1925348	hsa-miR-4799-5p	CLIP-seq
MIRT1925349	hsa-miR-518a-5p	CLIP-seq
MIRT1925350	hsa-miR-527	CLIP-seq
MIRT1925351	hsa-miR-570	CLIP-seq
MIRT764892	hsa-miR-876-3p	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764858	hsa-miR-1246	CLIP-seq
MIRT764859	hsa-miR-128	CLIP-seq
MIRT764860	hsa-miR-1293	CLIP-seq
MIRT2166845	hsa-miR-130a	CLIP-seq
MIRT2166846	hsa-miR-130b	CLIP-seq
MIRT2166847	hsa-miR-155	CLIP-seq
MIRT2166848	hsa-miR-186	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT764864	hsa-miR-27a	CLIP-seq
MIRT764865	hsa-miR-27b	CLIP-seq
MIRT764866	hsa-miR-2964a-5p	CLIP-seq
MIRT2166849	hsa-miR-301a	CLIP-seq
MIRT2166850	hsa-miR-301b	CLIP-seq
MIRT764868	hsa-miR-3134	CLIP-seq
MIRT764871	hsa-miR-330-3p	CLIP-seq
MIRT1925345	hsa-miR-3611	CLIP-seq
MIRT764872	hsa-miR-365	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT2166851	hsa-miR-4252	CLIP-seq
MIRT764877	hsa-miR-4320	CLIP-seq
MIRT764878	hsa-miR-4419a	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764881	hsa-miR-4483	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764883	hsa-miR-4510	CLIP-seq
MIRT2166852	hsa-miR-454	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT764886	hsa-miR-4728-5p	CLIP-seq
MIRT764887	hsa-miR-513a-5p	CLIP-seq
MIRT1925349	hsa-miR-518a-5p	CLIP-seq
MIRT1925350	hsa-miR-527	CLIP-seq
MIRT764892	hsa-miR-876-3p	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT764851	hsa-miR-1237	CLIP-seq
MIRT764852	hsa-miR-1248	CLIP-seq
MIRT2469310	hsa-miR-1271	CLIP-seq
MIRT2166845	hsa-miR-130a	CLIP-seq
MIRT2166846	hsa-miR-130b	CLIP-seq
MIRT2469311	hsa-miR-132	CLIP-seq
MIRT2469312	hsa-miR-148a	CLIP-seq
MIRT2469313	hsa-miR-148b	CLIP-seq
MIRT2469314	hsa-miR-152	CLIP-seq
MIRT2469315	hsa-miR-182	CLIP-seq
MIRT2469316	hsa-miR-193a-5p	CLIP-seq
MIRT2469317	hsa-miR-194	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT2469318	hsa-miR-212	CLIP-seq
MIRT2166849	hsa-miR-301a	CLIP-seq
MIRT2166850	hsa-miR-301b	CLIP-seq
MIRT2469319	hsa-miR-31	CLIP-seq
MIRT2469320	hsa-miR-323-3p	CLIP-seq
MIRT2469321	hsa-miR-337-3p	CLIP-seq
MIRT2469322	hsa-miR-4259	CLIP-seq
MIRT2469323	hsa-miR-4282	CLIP-seq
MIRT2469324	hsa-miR-4452	CLIP-seq
MIRT2166852	hsa-miR-454	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT2469325	hsa-miR-4776-3p	CLIP-seq
MIRT764854	hsa-miR-549	CLIP-seq
MIRT2469326	hsa-miR-802	CLIP-seq
MIRT2469327	hsa-miR-96	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT2469310	hsa-miR-1271	CLIP-seq
MIRT2166845	hsa-miR-130a	CLIP-seq
MIRT2166846	hsa-miR-130b	CLIP-seq
MIRT2469311	hsa-miR-132	CLIP-seq
MIRT2469312	hsa-miR-148a	CLIP-seq
MIRT2469313	hsa-miR-148b	CLIP-seq
MIRT2469314	hsa-miR-152	CLIP-seq
MIRT2469315	hsa-miR-182	CLIP-seq
MIRT2469316	hsa-miR-193a-5p	CLIP-seq
MIRT2469317	hsa-miR-194	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT2469318	hsa-miR-212	CLIP-seq
MIRT2166849	hsa-miR-301a	CLIP-seq
MIRT2166850	hsa-miR-301b	CLIP-seq
MIRT2469319	hsa-miR-31	CLIP-seq
MIRT2469320	hsa-miR-323-3p	CLIP-seq
MIRT2469321	hsa-miR-337-3p	CLIP-seq
MIRT2674356	hsa-miR-346	CLIP-seq
MIRT2469322	hsa-miR-4259	CLIP-seq
MIRT2469323	hsa-miR-4282	CLIP-seq
MIRT764876	hsa-miR-4312	CLIP-seq
MIRT2469324	hsa-miR-4452	CLIP-seq
MIRT2166852	hsa-miR-454	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT2469325	hsa-miR-4776-3p	CLIP-seq
MIRT1925349	hsa-miR-518a-5p	CLIP-seq
MIRT1925350	hsa-miR-527	CLIP-seq
MIRT764854	hsa-miR-549	CLIP-seq
MIRT2469326	hsa-miR-802	CLIP-seq
MIRT2469327	hsa-miR-96	CLIP-seq

115

Show/Hide all (115)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IDA	34948289
GO:0001649	Process	Osteoblast differentiation	IDA	18436533
GO:0001701	Process	In utero embryonic development	IEA
GO:0001702	Process	Gastrulation with mouth forming second	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002526	Process	Acute inflammatory response	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	IMP	19506109
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003183	Process	Mitral valve morphogenesis	IMP	19506109
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0003274	Process	Endocardial cushion fusion	IEA
GO:0003274	Process	Endocardial cushion fusion	ISS
GO:0003289	Process	Atrial septum primum morphogenesis	IEA
GO:0003289	Process	Atrial septum primum morphogenesis	IMP	19506109
GO:0003289	Process	Atrial septum primum morphogenesis	ISS
GO:0004672	Function	Protein kinase activity	IDA	19736306
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IDA	19506109, 19736306
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	NAS	8242742
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IEA
GO:0005515	Function	Protein binding	IPI	8242742, 8555189, 11266516, 18436533, 21791611, 31483918
GO:0005524	Function	ATP binding	IDA	12065756
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8242742
GO:0005886	Component	Plasma membrane	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	8242742
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0009968	Process	Negative regulation of signal transduction	IMP	9884026
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016361	Function	Activin receptor activity, type I	IDA	8242742
GO:0016361	Function	Activin receptor activity, type I	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017046	Function	Peptide hormone binding	NAS	12702211
GO:0019838	Function	Growth factor binding	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030278	Process	Regulation of ossification	IMP	16642017
GO:0030335	Process	Positive regulation of cell migration	IGI	19736306
GO:0030501	Process	Positive regulation of bone mineralization	IMP	18436533
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	12065756, 18436533
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IMP	26598555
GO:0030509	Process	BMP signaling pathway	ISS	8653785
GO:0030509	Process	BMP signaling pathway	ISS
GO:0032924	Process	Activin receptor signaling pathway	IDA	19506109
GO:0032924	Process	Activin receptor signaling pathway	IEA
GO:0032924	Process	Activin receptor signaling pathway	IMP	18326817
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IMP	9884026
GO:0042803	Function	Protein homodimerization activity	IDA	18436533
GO:0045177	Component	Apical part of cell	IEA
GO:0045296	Function	Cadherin binding	IPI	26598555
GO:0045446	Process	Endothelial cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	18436533
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	8242742
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19506109
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18326817
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046332	Function	SMAD binding	IBA
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048179	Component	Activin receptor complex	IDA	8242742
GO:0048185	Function	Activin binding	IDA	8242742
GO:0048185	Function	Activin binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IDA	8242742
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	19506109, 19736306
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060562	Process	Epithelial tube morphogenesis	IEA
GO:0060923	Process	Cardiac muscle cell fate commitment	IMP	19506109
GO:0061445	Process	Endocardial cushion cell fate commitment	IMP	19506109
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	IEA
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	ISS
GO:0070724	Component	BMP receptor complex	IBA
GO:0071363	Process	Cellular response to growth factor stimulus	IBA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0072359	Process	Circulatory system development	IEA
GO:0098821	Function	BMP receptor activity	IDA	12065756
GO:0098821	Function	BMP receptor activity	IEA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IMP	26598555
GO:1990782	Function	Protein tyrosine kinase binding	IPI	26598555
GO:2000017	Process	Positive regulation of determination of dorsal identity	IDA	19506109
GO:2000026	Process	Regulation of multicellular organismal development	IEA
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IMP	9884026
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	9884026

MIM	HGNC	e!Ensembl
102576	171	ENSG00000115170

Q04771

Protein name

Activin receptor type-1 (EC 2.7.11.30) (Activin receptor type I) (ACTR-I) (Activin receptor-like kinase 2) (ALK-2) (Serine/threonine-protein kinase receptor R1) (SKR1) (TGF-B superfamily receptor type I) (TSR-I)

Protein function

Bone morphogenetic protein (BMP) type I receptor that is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation (PubMed:20628059, PubMed:22977237). As a t

PDB

3H9R , 3MTF , 3OOM , 3Q4U , 4BGG , 4C02 , 4DYM , 5OXG , 5OY6 , 5S75 , 5S76 , 5S77 , 5S78 , 5S79 , 5S7A , 5S7B , 5S7C , 5S7D , 5S7E , 5S7F , 5S7G , 5S7H , 5S7I , 5S7J , 5S7K , 5S7L , 5S7M , 5S7N , 5S7O , 5S7P , 5S7Q , 5S7R , 5S7S , 5S7T , 5S7U , 5S7V , 5S7W , 5S7X , 5S7Y , 5S7Z , 5S80 , 5S81 , 5S82 , 5S83 , 5S84 , 5S85 , 5S86 , 5S87 , 5S88 , 5S89 , 5S8A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01064	Activin_recp	33 → 103	Activin types I and II receptor domain	Domain
PF08515	TGF_beta_GS	179 → 206	Transforming growth factor beta type I GS-motif	Family
PF07714	PK_Tyr_Ser-Thr	208 → 495	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells. {ECO:0000269|PubMed:8389764}.

Sequence

MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSIN
DGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNF
HLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTL
ADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTL
DTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVM
HSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVS
NGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC

Sequence length

509

Interactions

View interactions

	KEGG
	Cytokine-cytokine receptor interaction Hormone signaling TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells Fluid shear stress and atherosclerosis

105

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACVR1-related disorder	Pathogenic	rs121912678	RCV003904851
Diffuse midline glioma, H3 K27M-mutant	Pathogenic; Likely pathogenic	rs121912678, rs121912679, rs387906589	RCV006253675 RCV006253676 RCV006253681
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs121912678	RCV006253674
Ependymoma	Pathogenic; Likely pathogenic	rs121912678, rs387906589	RCV006253673 RCV006253680
Epicanthus	Pathogenic	rs121912678	RCV001823099
Neoplasm	Pathogenic	rs387906588	RCV006273065
Progressive myositis ossificans	Pathogenic; Likely pathogenic	rs797045135, rs863224846, rs121912678, rs121912679, rs121912680, rs387906588, rs387906589, rs387906590, rs387906591	RCV000190876 RCV000198218 RCV000019971 RCV000019972 RCV000019973 RCV000022430 RCV000022431 RCV000022432 RCV000022433 RCV000022434

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs79598188	RCV005895959
Congenital heart disease	Uncertain significance	rs2467919591, rs756858830	RCV005356208 RCV005359865
Embryonal rhabdomyosarcoma	-	rs387906589	RCV006254002
Lung cancer	Benign	rs12936	RCV005895964
Malignant tumor of esophagus	Benign; Likely benign	rs79598188, rs112489929	RCV005895960 RCV005903083
Multiple congenital anomalies/dysmorphic syndrome	Benign; Likely benign	rs34056189	RCV005625553
Sarcoma	Benign	rs12936, rs79598188	RCV005895963 RCV005895961
Uterine corpus endometrial carcinoma	Benign	rs79598188	RCV005895962

Show/Hide Text Mining Associations (78)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XX Testicular Disorders of Sex Development	Associate	26097044
Adenocarcinoma of Lung	Associate	34036102
Ankylosis	Associate	37156007
Astrocytoma	Associate	25047029
Bone Diseases	Associate	22408652, 35650602
Brain Neoplasms	Associate	28780023
Breast Neoplasms	Associate	23180569, 32960377
Breast Neoplasms	Inhibit	32960377
Camptodactyly 1	Associate	21044902
Carcinogenesis	Associate	24375256, 31685442
Carcinoma Hepatocellular	Associate	7850892
Carcinoma Pancreatic Ductal	Associate	25791160
Carcinoma Renal Cell	Associate	28199984
Carotid Stenosis	Associate	31589004
Cholangiocarcinoma	Associate	39831920
Chondrosarcoma	Associate	23088614
Colorectal Neoplasms	Associate	20011542, 24375256, 31685442
Colorectal Neoplasms	Stimulate	24375256
Dermatomyositis	Associate	30429363
Developmental Disabilities	Associate	24705252, 26097044
Diffuse Intrinsic Pontine Glioma	Associate	24705252, 25047029, 25101911, 26727948, 27048880, 28780023, 32273545
Early Onset Glaucoma	Associate	31785620
Endometrial Neoplasms	Associate	34360647
Epidermolysis Bullosa Simplex	Associate	26097044
Esophageal Neoplasms	Stimulate	34725559
Exfoliation Syndrome	Associate	32641001
Fibrocartilaginous embolism	Associate	35236255
Fibrosis	Associate	27530160
Genetic Diseases Inborn	Associate	28847510
Glaucoma Angle Closure	Associate	32641001
Glioma	Associate	35481923, 36759899, 36882456, 38172189
Gonadal Dysgenesis	Associate	26097044
Hallux Valgus	Associate	34440363
Hallux Varus	Associate	26966495
Hearing Loss Sensorineural	Associate	26097044
Heart Arrest	Associate	32727600
Heart Block	Associate	32727600
Heart defects limb shortening	Associate	18245597
Infections	Associate	39287296
Inflammation	Inhibit	29367682
Inflammation	Associate	30429363, 35236255, 37156007
Infratentorial Neoplasms	Associate	36759899
Intervertebral Disc Degeneration	Associate	35236255
Jackson Weiss syndrome	Associate	21044902, 24047559
Lung Neoplasms	Associate	23593444
Melanoma	Associate	25204799
Motion Sickness	Associate	37156007
Multiple Myeloma	Associate	36717825
Myositis Ossificans	Associate	17967130, 18245597, 18830232, 19085907, 19330033, 19543505, 20577760, 21044902, 21525719, 22011642, 22131272, 22408438, 22408652, 22581580, 22748444 View all (36 more)
Nasal Polyps	Associate	29367682
Neoplasms	Associate	23180569, 25047029, 25774687, 27304678, 29084603, 31685442, 36882456, 39373720
Neoplasms	Stimulate	34725559
Neoplasms Germ Cell and Embryonal	Associate	9365168
Nerve Degeneration	Associate	35442931
Neural Tube Defects	Associate	26097044
Neuralgia	Associate	35442931
Oculocutaneous albinism type 2	Associate	25047029
Orofacial Cleft 1	Associate	34061439
Orofaciodigital syndrome 9	Associate	19330033
Ossification Heterotopic	Associate	17967130, 19085907, 21044902, 21525719, 22131272, 24047559, 27530160, 28780023, 28985649, 29482508, 30417373, 30429363, 31733439, 32760351, 33516233 View all (4 more)
Osteochondritis	Associate	18245597
Osteosarcoma	Associate	33034913
Ovarian Neoplasms	Associate	19996292, 23468915
Pain	Associate	33516233, 35442931
Pancreatic Neoplasms	Associate	25791160
Patellar Dislocation	Associate	37156007
Polyps	Stimulate	29367682
Pre Eclampsia	Associate	24331737, 26010865
Pregnancy Heterotopic	Associate	18245597, 22011642, 27530160
Prostatic Neoplasms	Associate	17496924
Rare Diseases	Associate	35650602
Scleroderma Systemic	Associate	30429363
ST Elevation Myocardial Infarction	Associate	31589004
Stiff Skin Syndrome	Associate	37156007
Tertiary Lymphoid Structures	Associate	28847510
Testicular Germ Cell Tumor	Associate	9365168
Trismus	Associate	39287296
Wounds and Injuries	Associate	30429363

ACVR1 (activin A receptor type 1)