• Gene id: 94

Gene Summary

• Gene Symbol: ACVRL1   Gene   UCSC   Ensembl
• Aliases: ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
• Gene name: activin A receptor like type 1
• Alternate names: serine/threonine-protein kinase receptor R3, TGF-B superfamily receptor type I, activin A receptor type II-like 1, activin A receptor type IL, activin A receptor, type II-like kinase 1,
• Gene location: 12q13.13 (51906912: 51923360)     Exons: 11     NC_000012.12
• Gene summary(Entrez): This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) pre
• OMIM: 611658

SNPs

rs12870438

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

NC_000013.11   g.42906069G>A
NC_000013.10   g.43480205G>A
NG_051573.1   g.91244C>T|SEQ=[G/A]|GENE=EPSTI1

rs508485

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

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs2070565

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

NC_000021.9   g.44261270T>C
NC_000021.8   g.45681153T>C|SEQ=[T/C]|GENE=DNMT3L

rs2276248

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

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C|SEQ=[T/C]|GENE=DNMT3L

rs7354779

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

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs12920268

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

NC_000016.10   g.79433215G>A
NC_000016.9   g.79467112G>A|SEQ=[G/A]|GENE=MAF

rs1801085

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

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

rs7811653

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

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

rs6080550

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

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

rs200847762

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

NC_000006.12   g.32129371G>A
NC_000006.11   g.32097148G>A
NG_033940.1   g.3870C>T
NT_113891.3   g.3567702G>A
NT_113891.2   g.3567808G>A
NT_167247.2   g.3471391G>A
NT_167247.1   g.3476976G>A
NT_167245.2   g.3370735G>A
NT_167245.1   g.3376320G>A
NM_022110.4   c.410C>T
NM_  

rs1877031

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

NC_000017.11   g.39657827G>A
NC_000017.10   g.37814080G>A
NM_006804.4   c.350G>A
NM_006804.3   c.350G>A
XM_017024041.2   c.350G>A
NM_001165937.1   c.350G>A
XM_024450549.1   c.-418G>A
NM_001165938.1   c.350G>A
NP_006795.3   p.Arg117Gln
XP_016879530.1   p.Arg117Gln
NP_001  

rs3814309

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

NC_000001.11   g.109734781T>C
NC_000001.10   g.110277403T>C
NM_000849.4   c.*2290A>G
NM_000849.5   c.*2290A>G
NR_024537.1   n.3202A>G|SEQ=[T/C]|GENE=GSTM3

rs1571858

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

NC_000001.11   g.109737292C>A
NC_000001.11   g.109737292C>G
NC_000001.11   g.109737292C>T
NC_000001.10   g.110279914C>A
NC_000001.10   g.110279914C>G
NC_000001.10   g.110279914C>T|SEQ=[C/A/G/T]|GENE=GSTM3

rs3212293

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

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

rs180113

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

NC_000017.11   g.69928988T>C
NC_000017.10   g.67925129T>C|SEQ=[T/C]

rs7110167

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

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

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

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

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

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

rs10506398

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

NC_000012.12   g.59717545A>C
NC_000012.12   g.59717545A>G
NC_000012.11   g.60111326A>C
NC_000012.11   g.60111326A>G|SEQ=[A/C/G]|GENE=SLC16A7

rs10506399

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

NC_000012.12   g.59780712G>A
NC_000012.12   g.59780712G>C
NC_000012.11   g.60174493G>A
NC_000012.11   g.60174493G>C
NM_004731.4   c.*1033G>A
NM_004731.4   c.*1033G>C
NM_004731.5   c.*1033G>A
NM_004731.5   c.*1033G>C
XM_005269231.4   c.*1033G>A
XM_005269231.4   c.*1033G>

rs144944885

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

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

rs1237691411

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

NC_000012.12   g.101737863A>G
NC_000012.11   g.102131641A>G
NG_021181.1   g.6607T>C
NM_153694.4   c.73T>C
NM_001177949.2   c.73T>C
NM_001177949.1   c.73T>C
NM_001177948.1   c.73T>C
XM_005268922.5   c.313T>C
XM_005268922.1   c.313T>C
XM_005268926.4   c.73T>C
XM_005268926  

Protein Summary

• Protein general information: P37023  
  • Name: Serine/threonine protein kinase receptor R3 (SKR3) (EC 2.7.11.30) (Activin receptor like kinase 1) (ALK 1) (TGF B superfamily receptor type I) (TSR I)
  • Length: 503  
  • Mass: 56124
• Sequence:

  MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRE
  LCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQ
  RGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGES
  VAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLAL
  RLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRY
  MAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPT
  IPNRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQKISNSPEKPKVIQ

• Structural information:
  • Protein Domains: (172..20-)
    (/note="GS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00585-)
    (202..49-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR003605  IPR011009  IPR000719  IPR017441  IPR001245   IPR008271  IPR000333  
  • Prosite: PS51256 PS00107 PS50011 PS00108
  • PDB: 2LCR 3MY0 4FAO
  • PDBsum: 2LCR 3MY0 4FAO
  • DIP: 5938
  • STRING: ENSP00000373574
• Other Databases: GeneCards:  ACVRL1  Malacards:  ACVRL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IDA	biological process
GO:0008217	regulation of blood pressure	IMP	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0008015	blood circulation	IMP	biological process
GO:0007162	negative regulation of cell adhesion	IMP	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
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:0035313	wound healing, spreading of epidermal cells	IMP	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0001525	angiogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0051895	negative regulation of focal adhesion assembly	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0001525	angiogenesis	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0070724	BMP receptor complex	IBA	cellular component
GO:0071363	cellular response to growth factor stimulus	IBA	biological process
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005025	transforming growth factor beta receptor activity, type I	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006468	protein phosphorylation	IBA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0007507	heart development	IBA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0002043	blood vessel endothelial cell proliferation involved in sprouting angiogenesis	TAS	biological process
GO:0001936	regulation of endothelial cell proliferation	TAS	biological process
GO:0001955	blood vessel maturation	TAS	biological process
GO:0006275	regulation of DNA replication	TAS	biological process
GO:0043535	regulation of blood vessel endothelial cell migration	TAS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0098821	BMP receptor activity	IMP	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:0001525	angiogenesis	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0016361	activin receptor activity, type I	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0060840	artery development	IEA	biological process
GO:0048514	blood vessel morphogenesis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045603	positive regulation of endothelial cell differentiation	IEA	biological process
GO:0045602	negative regulation of endothelial cell differentiation	IEA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0001946	lymphangiogenesis	IEA	biological process
GO:0001937	negative regulation of endothelial cell proliferation	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0061298	retina vasculature development in camera-type eye	IEA	biological process
GO:0060841	venous blood vessel development	IEA	biological process
GO:0060836	lymphatic endothelial cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0035912	dorsal aorta morphogenesis	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0010596	negative regulation of endothelial cell migration	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IDA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IDA	biological process
GO:0001946	lymphangiogenesis	ISS	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0060840	artery development	ISS	biological process
GO:0061154	endothelial tube morphogenesis	IMP	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:2000279	negative regulation of DNA biosynthetic process	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0032332	positive regulation of chondrocyte differentiation	TAS	biological process
GO:0043537	negative regulation of blood vessel endothelial cell migration	IMP	biological process
GO:0060836	lymphatic endothelial cell differentiation	IMP	biological process
GO:0060841	venous blood vessel development	ISS	biological process
GO:0061298	retina vasculature development in camera-type eye	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0035912	dorsal aorta morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0090500	endocardial cushion to mesenchymal transition	ISS	NOT|biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0032924	activin receptor signaling pathway	IEA	biological process
GO:0048185	activin binding	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005025	transforming growth factor beta receptor activity, type I	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Pulmonary arterial hypertension	KEGG:H01621
Hereditary hemorrhagic telangiectasia	KEGG:H00533
Pulmonary arterial hypertension	KEGG:H01621
Hereditary hemorrhagic telangiectasia	KEGG:H00533
hereditary hemorrhagic telangiectasia	PMID:18543223
hereditary hemorrhagic telangiectasia	PMID:17219009
hereditary hemorrhagic telangiectasia	PMID:16752392
hereditary hemorrhagic telangiectasia	PMID:15024723
Pulmonary hypertension	PMID:20056902
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq