• Gene id: 90

Gene Summary

• Gene Symbol: ACVR1   Gene   UCSC   Ensembl
• Aliases: ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI
• Gene name: activin A receptor type 1
• Alternate 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,
• Gene location: 2q24.1 (29927846: 29576478)     Exons: 23     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 102576

SNPs

rs397515395

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000019.10   g.55161685dup
NC_000019.9   g.55673053dup
NG_007866.2   g.1048dup
NG_032759.1   g.10038dup
NM_178837.4   c.762dup
NM_001256715.2   c.621dup
NM_001256715.1   c.621dup
NM_001256716.1   c.459dup
NM_001256714.1   c.825dup
NP_849159.2   p.Val255fs
NP_001243644  

rs387907152

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165427G>A
NC_000019.9   g.55676795G>A
NG_032759.1   g.6296C>T
NM_178837.4   c.406C>T
NM_001256715.2   c.265C>T
NM_001256715.1   c.265C>T
NM_001256716.1   c.103C>T
NM_001256714.1   c.469C>T
NP_849159.2   p.Arg136Ter
NP_001243644.1   p.Arg89Ter
NP_00124  

rs387907151

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165904A>G
NC_000019.9   g.55677272A>G
NG_032759.1   g.5819T>C
NM_178837.4   c.323T>C
NM_001256715.2   c.182T>C
NM_001256715.1   c.182T>C
NM_001256716.1   c.-57T>C
NM_001256714.1   c.386T>C
NP_849159.2   p.Leu108Pro
NP_001243644.1   p.Leu61Pro
NP_00124  

rs61758741

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.154959219T>C
NC_000001.10   g.154931695T>C
NM_138300.4   c.781A>G
NM_138300.3   c.781A>G
NP_612157.1   p.Lys261Glu|SEQ=[T/C]|GENE=PYGO2

rs61758740

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.154959577C>T
NC_000001.10   g.154932053C>T
NM_138300.4   c.423G>A
NM_138300.3   c.423G>A
NP_612157.1   p.Met141Ile|SEQ=[C/T]|GENE=PYGO2
LOC101928120   101928120

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

rs2284922

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37381257G>A
NC_000006.11   g.37349033G>A
NM_003958.4   c.1344G>A
NM_003958.3   c.1344G>A
XM_006715241.3   c.1254G>A
XR_001743734.2   n.1641G>A
XR_001743731.2   n.1558G>A
NR_046399.1   n.1643G>A
NR_046399.2   n.1632G>A
XM_017011462.1   c.1173G>A|SEQ=[G/A

rs852977

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.143307929A>G
NC_000005.9   g.142687494A>G
NG_009062.1   g.132584T>C|SEQ=[A/G]|GENE=NR3C1

rs195434

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37392781T>C
NC_000006.11   g.37360557T>C
NM_003958.4   c.*2023T>C
NM_003958.3   c.*2023T>C
NM_183078.2   c.*1929T>C
NM_183078.3   c.*1929T>C
NR_046399.1   n.3780T>C
NR_046399.2   n.3769T>C|SEQ=[T/C]|GENE=RNF8

rs195432

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37390246A>C
NC_000006.12   g.37390246A>G
NC_000006.12   g.37390246A>T
NC_000006.11   g.37358022A>C
NC_000006.11   g.37358022A>G
NC_000006.11   g.37358022A>T|SEQ=[A/C/G/T]|GENE=RNF8

rs104669

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37386283A>T
NC_000006.11   g.37354059A>T|SEQ=[A/T]|GENE=RNF8

rs143136847

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.82354560T>C
NC_000012.12   g.82354560T>G
NC_000012.11   g.82748339T>C
NC_000012.11   g.82748339T>G
NG_053173.1   g.1155T>C
NG_053173.1   g.1155T>G
NG_053173.2   g.1155T>C
NG_053173.2   g.1155T>G
NM_014167.5   c.499A>G
NM_014167.5   c.499A>C
NM_014167.4  

rs1801394

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.7870860A>G
NC_000005.9   g.7870973A>G
NG_008856.1   g.6757A>G
NM_024010.4   c.66A>G
NM_024010.3   c.66A>G
NM_024010.2   c.147A>G
NM_002454.3   c.66A>G
NM_002454.2   c.66A>G
NM_001364440.2   c.66A>G
NM_001364440.1   c.66A>G
NM_001364441.2   c.66A>G
NM_0013  

rs13447352

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.20587967A>C
NC_000024.9   g.22749853A>C|SEQ=[A/C]|GENE=EIF1AY

rs5335

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.147542688G>A
NC_000004.12   g.147542688G>C
NC_000004.11   g.148463840G>A
NC_000004.11   g.148463840G>C
NG_013343.1   g.66772G>A
NG_013343.1   g.66772G>C
NM_001957.4   c.*70G>A
NM_001957.4   c.*70G>C
NM_001957.3   c.*70G>A
NM_001957.3   c.*70G>C
NR_04595  

rs1801708

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.147481217G>A
NC_000004.12   g.147481217G>C
NC_000004.11   g.148402369G>A
NC_000004.11   g.148402369G>C
NG_013343.1   g.5301G>A
NG_013343.1   g.5301G>C
NM_001957.4   c.-230G>A
NM_001957.4   c.-230G>C
NM_001957.3   c.-230G>A
NM_001957.3   c.-230G>C
NR_045  

rs4934540

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.35185771T>A
NC_000010.11   g.35185771T>C
NC_000010.10   g.35474699T>A
NC_000010.10   g.35474699T>C
NG_029065.1   g.63899T>A
NG_029065.1   g.63899T>C|SEQ=[T/A/C]|GENE=CREM

rs2295415

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.35212510A>G
NC_000010.10   g.35501438A>G
NG_029065.1   g.90638A>G
NM_183013.3   c.*1112A>G
NM_183013.2   c.*1112A>G
NM_181571.3   c.*707A>G
NM_181571.2   c.*707A>G
NM_182769.3   c.*707A>G
NM_182769.2   c.*707A>G
NM_182770.3   c.*707A>G
NM_182770.2   c.*70

rs141722381

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.154959281T>A
NC_000001.10   g.154931757T>A
NM_138300.4   c.719A>T
NM_138300.3   c.719A>T
NP_612157.1   p.Asn240Ile|SEQ=[T/A]|GENE=PYGO2

Protein Summary

• Protein general information: Q04771  
  • 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)
  • Length: 509  
  • Mass: 57153
  • Tissue specificity: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.
• Sequence:

  MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYE
  QGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFK
  RRNQERLNPRDVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRG
  SWQGENVAVKIFSSRDEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTL
  DTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPR
  VGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCV
  DQQRPNIPNRWFSDPTLTSLAKLMKECWYQNPSARLTALRIKKTLTKIDNSLDKLKTDC

• Structural information:
  • Protein Domains: (178..20-)
    (/note="GS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00585-)
    (208..50-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR000472  IPR003605  IPR011009  IPR000719  IPR017441   IPR001245  IPR008271  IPR000333  
  • Prosite: PS51256 PS00107 PS50011 PS00108
  • PDB: 3H9R 3MTF 3OOM 3Q4U 4BGG 4C02 4DYM 5OXG 5OY6 6ACR 6EIX 6GI6 6GIN 6GIP 6I1S 6SRH 6SZM 6T6D 6T8N 6TN8
  • PDBsum: 3H9R 3MTF 3OOM 3Q4U 4BGG 4C02 4DYM 5OXG 5OY6 6ACR 6EIX 6GI6 6GIN 6GIP 6I1S 6SRH 6SZM 6T6D 6T8N 6TN8
  • DIP: 212
  • STRING: ENSP00000263640
• Other Databases: GeneCards:  ACVR1  Malacards:  ACVR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045296	cadherin binding	IPI	molecular function
GO:1990782	protein tyrosine kinase binding	IPI	molecular function
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0046332	SMAD binding	IDA	molecular function
GO:0009968	negative regulation of signal transduction	IMP	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IMP	biological process
GO:0032926	negative regulation of activin receptor signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0007507	heart development	IBA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005025	transforming growth factor beta receptor activity, type I	IBA	molecular function
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0071363	cellular response to growth factor stimulus	IBA	biological process
GO:0070724	BMP receptor complex	IBA	cellular component
GO:0043235	receptor complex	IBA	cellular component
GO:0001525	angiogenesis	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0061312	BMP signaling pathway involved in heart development	IEA	biological process
GO:0050431	transforming growth factor beta binding	IEA	molecular function
GO:0045177	apical part of cell	IEA	cellular component
GO:0003289	atrial septum primum morphogenesis	IEA	biological process
GO:0003274	endocardial cushion fusion	IEA	biological process
GO:0001702	gastrulation with mouth forming second	IEA	biological process
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0051145	smooth muscle cell differentiation	IEA	biological process
GO:0048185	activin binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0019838	growth factor binding	IEA	molecular function
GO:0016361	activin receptor activity, type I	IEA	molecular function
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0007369	gastrulation	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005025	transforming growth factor beta receptor activity, type I	IEA	molecular function
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0003181	atrioventricular valve morphogenesis	IEA	biological process
GO:0002526	acute inflammatory response	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0032924	activin receptor signaling pathway	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:2000017	positive regulation of determination of dorsal identity	IDA	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0030335	positive regulation of cell migration	IGI	biological process
GO:0003183	mitral valve morphogenesis	IMP	biological process
GO:0003289	atrial septum primum morphogenesis	IMP	biological process
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0060923	cardiac muscle cell fate commitment	IMP	biological process
GO:0032924	activin receptor signaling pathway	IMP	biological process
GO:0003143	embryonic heart tube morphogenesis	IMP	biological process
GO:0061445	endocardial cushion cell fate commitment	IMP	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0003148	outflow tract septum morphogenesis	ISS	NOT|biological process
GO:0003274	endocardial cushion fusion	ISS	biological process
GO:0003289	atrial septum primum morphogenesis	ISS	biological process
GO:0061312	BMP signaling pathway involved in heart development	ISS	biological process
GO:0003181	atrioventricular valve morphogenesis	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0048185	activin binding	IDA	molecular function
GO:0016361	activin receptor activity, type I	IDA	contributes to
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0048179	activin receptor complex	IDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	NAS	molecular function
GO:0030278	regulation of ossification	IMP	biological process
GO:0017046	peptide hormone binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05418	Fluid shear stress and atherosclerosis
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Fibrodysplasia ossificans progressiva	KEGG:H00430
Fibrodysplasia ossificans progressiva	KEGG:H00430
pancreatic cancer	PMID:9714055
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881