BCL2A1
Summary: This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| BCL2 related protein A1 | MIM:601056 | Ensembl:ENSG00000140379 | HGNC:HGNC:991 | PA25303 | 15q25.1 |
GO terms in BCL2A1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0042803 | protein homodimerization activity |
| MF | IBA | GO:0046982 | protein heterodimerization activity |
| BP | IBA | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | IBA | GO:0043066 | negative regulation of apoptotic process |
| BP | ISS | GO:0043066 | negative regulation of apoptotic process |
| BP | IEA | GO:0055085 | transmembrane transport |
| BP | IBA | GO:0097192 | extrinsic apoptotic signaling pathway in absence of ligand |
| BP | IBA | GO:2001243 | negative regulation of intrinsic apoptotic signaling pathway |
| CC | IBA | GO:0005741 | mitochondrial outer membrane |
Gene expression in normal tissue: BCL2A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BCL2A1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP1772 | Apoptosis Modulation and Signaling |
| wikipathways | WP3614 | Photodynamic therapy-induced HIF-1 survival signaling |
| wikipathways | WP3617 | Photodynamic therapy-induced NF-kB survival signaling |
| wikipathways | WP3872 | Regulation of Apoptosis by Parathyroid Hormone-related Protein |
| pid | bcr_5pathway | BCR signaling pathway |
| pid | p53downstreampathway | Direct p53 effectors |
| kegg | hsa04064 | NF-kappa B signaling pathway - Homo sapiens (human) |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05221 | Acute myeloid leukemia - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD634 | SCHEMBL2608041 | 3 |
| iGMDRD658 | CHEMBL1673039 | 1 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD506 | Fedratinib | 1 |
| iGMDRD150 | RITA | 1 |
| iGMDRD434 | BMS-536924 | 6 |
| iGMDRD33 | Entinostat | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BCL2A1
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