ACVRL1
Summary: 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) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| activin A receptor like type 1 | MIM:601284 | Ensembl:ENSG00000139567 | HGNC:HGNC:175 | PA24496 | 12q13.13 |
GO terms in ACVRL1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
| MF | NAS | GO:0004675 | transmembrane receptor protein serine/threonine kinase activity |
| MF | IBA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IDA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IBA | GO:0005025 | transforming growth factor beta receptor activity, type I |
| MF | IDA | GO:0005025 | transforming growth factor beta receptor activity, type I |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IBA | GO:0016361 | activin receptor activity, type I |
| MF | IDA | GO:0016361 | activin receptor activity, type I |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | IBA | GO:0046332 | SMAD binding |
| MF | IDA | GO:0046332 | SMAD binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0048185 | activin binding |
| MF | IDA | GO:0048185 | activin binding |
| MF | IPI | GO:0050431 | transforming growth factor beta binding |
| MF | IBA | GO:0098821 | BMP receptor activity |
| MF | IMP | GO:0098821 | BMP receptor activity |
| BP | IMP | GO:0001525 | angiogenesis |
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | TAS | GO:0001936 | regulation of endothelial cell proliferation |
| BP | IEA | GO:0001937 | negative regulation of endothelial cell proliferation |
| BP | IEA | GO:0001938 | positive regulation of endothelial cell proliferation |
| BP | ISS | GO:0001946 | lymphangiogenesis |
| BP | TAS | GO:0001955 | blood vessel maturation |
| BP | ISS | GO:0001974 | blood vessel remodeling |
| BP | TAS | GO:0002043 | blood vessel endothelial cell proliferation involved in sprouting angiogenesis |
| BP | ISS | GO:0003203 | endocardial cushion morphogenesis |
| BP | TAS | GO:0006275 | regulation of DNA replication |
| BP | IMP | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IDA | GO:0006468 | protein phosphorylation |
| BP | IMP | GO:0007162 | negative regulation of cell adhesion |
| BP | IDA | GO:0007165 | signal transduction |
| BP | IBA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IDA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IBA | GO:0007389 | pattern specification process |
| BP | IMP | GO:0008015 | blood circulation |
| BP | IMP | GO:0008217 | regulation of blood pressure |
| BP | IMP | GO:0008285 | negative regulation of cell proliferation |
| BP | IDA | GO:0010596 | negative regulation of endothelial cell migration |
| BP | ISS | GO:0010629 | negative regulation of gene expression |
| BP | IMP | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation |
| BP | IDA | GO:0030308 | negative regulation of cell growth |
| BP | IMP | GO:0030336 | negative regulation of cell migration |
| BP | IMP | GO:0030509 | BMP signaling pathway |
| BP | TAS | GO:0030509 | BMP signaling pathway |
| BP | IDA | GO:0030513 | positive regulation of BMP signaling pathway |
| BP | TAS | GO:0032332 | positive regulation of chondrocyte differentiation |
| BP | IEA | GO:0032924 | activin receptor signaling pathway |
| BP | IMP | GO:0035313 | wound healing, spreading of epidermal cells |
| BP | ISS | GO:0035912 | dorsal aorta morphogenesis |
| BP | TAS | GO:0043535 | regulation of blood vessel endothelial cell migration |
| BP | IMP | GO:0043537 | negative regulation of blood vessel endothelial cell migration |
| BP | IEA | GO:0045602 | negative regulation of endothelial cell differentiation |
| BP | IEA | GO:0045603 | positive regulation of endothelial cell differentiation |
| BP | IEA | GO:0045766 | positive regulation of angiogenesis |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0051895 | negative regulation of focal adhesion assembly |
| BP | IMP | GO:0060836 | lymphatic endothelial cell differentiation |
| BP | ISS | GO:0060840 | artery development |
| BP | ISS | GO:0060841 | venous blood vessel development |
| BP | IMP | GO:0061154 | endothelial tube morphogenesis |
| BP | ISS | GO:0061298 | retina vasculature development in camera-type eye |
| BP | IDA | GO:0071560 | cellular response to transforming growth factor beta stimulus |
| BP | IMP | GO:0071773 | cellular response to BMP stimulus |
| BP | ISS | GO:0090500 | endocardial cushion to mesenchymal transition |
| BP | IMP | GO:2000279 | negative regulation of DNA biosynthetic process |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0009986 | cell surface |
| CC | IEA | GO:0030425 | dendrite |
| CC | IEA | GO:0043025 | neuronal cell body |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IBA | GO:0048179 | activin receptor complex |
Gene expression in normal tissue: ACVRL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ACVRL1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | alk1pathway | ALK1 signaling events |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-201451 | Signaling by BMP |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD426 | WP1130 | 1 |
| iGMDRD750 | TRIAZOLOTHIADIAZINE | 1 |
| iGMDRD154 | NSC23766 | 4 |
| iGMDRD176 | Decitabine | 1 |
| iGMDRD901 | ELCPK | 2 |
| iGMDRD123 | Isoevodiamine | 1 |
| iGMDRD314 | Tanespimycin | 1 |
| iGMDRD351 | GW843682X | 2 |
| iGMDRD541 | SNX-2112 (PF-04928473) | 1 |
| iGMDRD681 | SB-743921 | 1 |
| iGMDRD456 | Crizotinib | 1 |
| iGMDRD424 | Tamatinib | 3 |
| iGMDRD798 | Ceranib-2 | 1 |
| iGMDRD477 | AT13387 | 1 |
| iGMDRD322 | FK 866 | 1 |
| iGMDRD300 | Tozasertib | 3 |
| iGMDRD505 | Pevonedistat | 1 |
| iGMDRD87 | Epigallocatechin-3-monogallate | 1 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD265 | Dacarbazine | 1 |
| iGMDRD77 | Itraconazole | 1 |
| iGMDRD244 | ML311 | 1 |
| iGMDRD231 | Importazole | 6 |
| iGMDRD705 | Nakiterpiosin | 1 |
| iGMDRD434 | BMS-536924 | 4 |
| iGMDRD787 | PF 184 | 1 |
| iGMDRD157 | Ouabain | 1 |
| iGMDRD439 | KW-2449 | 1 |
| iGMDRD121 | GMX1778 | 6 |
| iGMDRD271 | Brefeldin A | 1 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD489 | GSK-461364 | 1 |
| iGMDRD484 | Pluripotin | 1 |
| iGMDRD546 | BMS-754807 | 7 |
| iGMDRD779 | PRL-3 Inhibitor I | 1 |
| iGMDRD387 | CHIR-99021 | 1 |
| iGMDRD1008 | SR-II-138A | 1 |
| iGMDRD425 | ERASTIN | 1 |
| iGMDRD857 | BRD-K70511574 | 1 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD313 | Axitinib | 1 |
| iGMDRD533 | HSCI1_000270 | 1 |
| iGMDRD291 | AC1NS4S0 | 1 |
| iGMDRD640 | CAY10618 | 1 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD609 | BRD-K66453893 | 1 |
| iGMDRD506 | Fedratinib | 3 |
| iGMDRD1038 | X3.Cl.AHPC | 1 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD641 | SCH 79797 | 1 |
| iGMDRD74 | Idarubicin | 3 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD187 | BRD9876 | 4 |
| iGMDRD117 | Docetaxel | 1 |
| iGMDRD802 | 4-methylfasudil | 4 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACVRL1
CLASSFICATION
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