ACVR1B
Summary: This gene encodes an activin A type IB receptor. 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 include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| activin A receptor type 1B | MIM:601300 | Ensembl:ENSG00000135503 | HGNC:HGNC:172 | PA24493 | 12q13.13 |
GO terms in ACVR1B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | EXP | GO:0004674 | protein serine/threonine kinase activity |
| MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
| MF | TAS | 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 | IBA | GO:0005025 | transforming growth factor beta receptor activity, type I |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IDA | GO:0016361 | activin receptor activity, type I |
| MF | TAS | GO:0016361 | activin receptor activity, type I |
| MF | IDA | GO:0017002 | activin-activated receptor activity |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IPI | GO:0019838 | growth factor binding |
| MF | NAS | GO:0031625 | ubiquitin protein ligase binding |
| MF | IPI | GO:0034711 | inhibin 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 | IBA | GO:0048185 | activin binding |
| MF | IDA | GO:0048185 | activin binding |
| CC | IDA | GO:0005829 | cytosol |
| 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 | IBA | GO:0043235 | receptor complex |
| CC | IDA | GO:0043235 | receptor complex |
| CC | IBA | GO:0048179 | activin receptor complex |
| CC | IDA | GO:0048179 | activin receptor complex |
| BP | IDA | GO:0000082 | G1/S transition of mitotic cell cycle |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001942 | hair follicle development |
| BP | IDA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IDA | GO:0006468 | protein phosphorylation |
| BP | IDA | GO:0007165 | signal transduction |
| BP | TAS | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway |
| BP | IBA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IBA | GO:0007389 | pattern specification process |
| BP | IEA | GO:0007417 | central nervous system development |
| BP | IEA | GO:0010629 | negative regulation of gene expression |
| BP | IEA | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation |
| BP | IDA | GO:0018107 | peptidyl-threonine phosphorylation |
| BP | IDA | GO:0030308 | negative regulation of cell growth |
| BP | IBA | GO:0032924 | activin receptor signaling pathway |
| BP | IDA | GO:0032924 | activin receptor signaling pathway |
| BP | IMP | GO:0032924 | activin receptor signaling pathway |
| BP | IDA | GO:0032927 | positive regulation of activin receptor signaling pathway |
| BP | IGI | GO:0038092 | nodal signaling pathway |
| BP | IDA | GO:0045648 | positive regulation of erythrocyte differentiation |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0046545 | development of primary female sexual characteristics |
| BP | IDA | GO:0046777 | protein autophosphorylation |
| BP | IMP | GO:0097191 | extrinsic apoptotic signaling pathway |
| BP | IDA | GO:1901165 | positive regulation of trophoblast cell migration |
Gene expression in normal tissue: ACVR1B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ACVR1B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2849 | Hematopoietic Stem Cell Differentiation |
| reactome | R-HSA-1181150 | Signaling by NODAL |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1433617 | Regulation of signaling by NODAL |
| reactome | R-HSA-1502540 | Signaling by Activin |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD524 | ISX-9 | 1 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD634 | SCHEMBL2608041 | 1 |
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD546 | BMS-754807 | 1 |
| iGMDRD424 | Tamatinib | 3 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD105 | Triptolide | 5 |
| iGMDRD294 | Batimastat | 2 |
| iGMDRD255 | SB225002 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACVR1B
CLASSFICATION
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