Gene table of ACVRL1 : activin A receptor like type 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ACVRL1	OMIM link	Number of associated genes	genes
PS187300	TELANGIECTASIA, HEREDITARY HEMORRHAGIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	GDF2, ENG, ACVRL1

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Annotation of the gene ACVRL1

Associated genes in ENSEMBL

ENSG00000139567

Associated proteins - SwissProt Accession ID

P37023

Associated PDB IDs

Cytogenetic Band

12q13.13

Tandem repeats annotation

The gene is in the tandem Group 572, together with the genes:

ACVR1B

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
purine ribonucleoside triphosphate binding	GO:0035639	2.22
cytokine binding	GO:0019955	5.21
heterocyclic compound binding	GO:1901363	1.06
enzyme binding	GO:0019899	2.27
ribonucleoside binding	GO:0032549	2.22
molecular transducer activity	GO:0060089	2.32
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
nucleotide binding	GO:0000166	1.96
transmembrane receptor activity	GO:0099600	2.53
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
kinase binding	GO:0019900	3.32
receptor signaling protein activity	GO:0005057	4.76
growth factor binding	GO:0019838	4.89
small molecule binding	GO:0036094	1.89
ion binding	GO:0043167	1.36
transmembrane receptor protein serine/threonine kinase activity	GO:0004675	6.91
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
BMP receptor activity	GO:0098821	8.13
nucleoside phosphate binding	GO:1901265	1.96
protein kinase activity	GO:0004672	3.27
protein complex binding	GO:0032403	3.09
	GO:0016361	8.35
transforming growth factor beta binding	GO:0050431	6.97
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
receptor signaling protein serine/threonine kinase activity	GO:0004702	5.23
protein kinase binding	GO:0019901	3.44
catalytic activity	GO:0003824	1.05
purine nucleotide binding	GO:0017076	2.19
SMAD binding	GO:0046332	5.45
metal ion binding	GO:0046872	1.41
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
transforming growth factor beta receptor activity, type I	GO:0005025	8.35
transforming growth factor beta-activated receptor activity	GO:0005024	7.44
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
transmembrane signaling receptor activity	GO:0004888	2.57
adenyl ribonucleotide binding	GO:0032559	2.41
ribonucleotide binding	GO:0032553	2.19
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
activin-activated receptor activity	GO:0017002	7.79
transmembrane receptor protein kinase activity	GO:0019199	5.32
purine ribonucleoside binding	GO:0032550	2.22
activin binding	GO:0048185	7.25
receptor activity	GO:0004872	2.32