BCL2L1
Summary: The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| BCL2 like 1 | MIM:600039 | Ensembl:ENSG00000171552 | HGNC:HGNC:992 | PA76 | 20q11.21 |
GO terms in BCL2L1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IBA | GO:0005741 | mitochondrial outer membrane |
| CC | NAS | GO:0005741 | mitochondrial outer membrane |
| CC | TAS | GO:0005741 | mitochondrial outer membrane |
| CC | IEA | GO:0005743 | mitochondrial inner membrane |
| CC | IEA | GO:0005759 | mitochondrial matrix |
| CC | IEA | GO:0005783 | endoplasmic reticulum |
| CC | IDA | GO:0005813 | centrosome |
| CC | IEA | GO:0005829 | cytosol |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0030054 | cell junction |
| CC | IEA | GO:0030672 | synaptic vesicle membrane |
| CC | IEA | GO:0031965 | nuclear membrane |
| CC | IDA | GO:0097136 | Bcl-2 family protein complex |
| BP | IEA | GO:0001541 | ovarian follicle development |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IDA | GO:0001836 | release of cytochrome c from mitochondria |
| BP | IEA | GO:0006897 | endocytosis |
| BP | IMP | GO:0007093 | mitotic cell cycle checkpoint |
| BP | IEA | GO:0007281 | germ cell development |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0008283 | cell proliferation |
| BP | IEA | GO:0008284 | positive regulation of cell proliferation |
| BP | IEA | GO:0008584 | male gonad development |
| BP | IBA | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | IEA | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | TAS | GO:0008637 | apoptotic mitochondrial changes |
| BP | IEA | GO:0009566 | fertilization |
| BP | IDA | GO:0019050 | suppression by virus of host apoptotic process |
| BP | TAS | GO:0019221 | cytokine-mediated signaling pathway |
| BP | IMP | GO:0032465 | regulation of cytokinesis |
| BP | IDA | GO:0034097 | response to cytokine |
| BP | IBA | GO:0043066 | negative regulation of apoptotic process |
| BP | IDA | GO:0043066 | negative regulation of apoptotic process |
| BP | IEA | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | IEA | GO:0046898 | response to cycloheximide |
| BP | IDA | GO:0046902 | regulation of mitochondrial membrane permeability |
| BP | IEA | GO:0051402 | neuron apoptotic process |
| BP | IDA | GO:0051881 | regulation of mitochondrial membrane potential |
| BP | IEA | GO:0060154 | cellular process regulating host cell cycle in response to virus |
| BP | IEA | GO:0070584 | mitochondrion morphogenesis |
| BP | IEA | GO:0071230 | cellular response to amino acid stimulus |
| BP | IEA | GO:0071312 | cellular response to alkaloid |
| BP | IEA | GO:0071480 | cellular response to gamma radiation |
| BP | IEA | GO:0071839 | apoptotic process in bone marrow |
| BP | IC | GO:0090201 | negative regulation of release of cytochrome c from mitochondria |
| BP | IBA | GO:0097192 | extrinsic apoptotic signaling pathway in absence of ligand |
| BP | IEA | GO:0097192 | extrinsic apoptotic signaling pathway in absence of ligand |
| BP | IEA | GO:0097284 | hepatocyte apoptotic process |
| BP | IDA | GO:1900118 | negative regulation of execution phase of apoptosis |
| BP | IDA | GO:1902042 | negative regulation of extrinsic apoptotic signaling pathway via death domain receptors |
| BP | IDA | GO:1902230 | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | IDA | GO:1903077 | negative regulation of protein localization to plasma membrane |
| BP | TAS | GO:2001240 | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand |
| BP | IBA | GO:2001243 | negative regulation of intrinsic apoptotic signaling pathway |
| BP | IDA | GO:2001243 | negative regulation of intrinsic apoptotic signaling pathway |
| BP | TAS | GO:2001244 | positive regulation of intrinsic apoptotic signaling pathway |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IBA | GO:0042803 | protein homodimerization activity |
| MF | IBA | GO:0046982 | protein heterodimerization activity |
| MF | IPI | GO:0051434 | BH3 domain binding |
Gene expression in normal tissue: BCL2L1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BCL2L1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | atf2_pathway | ATF-2 transcription factor network |
| pid | caspase_pathway | Caspase Cascade in Apoptosis |
| pid | cd40_pathway | CD40/CD40L signaling |
| pid | epopathway | EPO signaling pathway |
| pid | erbb1_downstream_pathway | ErbB1 downstream signaling |
| pid | il2_pi3kpathway | IL2 signaling events mediated by PI3K |
| pid | il2_stat5pathway | IL2 signaling events mediated by STAT5 |
| pid | il3_pathway | IL3-mediated signaling events |
| pid | il4_2pathway | IL4-mediated signaling events |
| pid | il6_7pathway | IL6-mediated signaling events |
| pid | nfat_3pathway | Role of Calcineurin-dependent NFAT signaling in lymphocytes |
| pid | p53downstreampathway | Direct p53 effectors |
| pid | pi3kciaktpathway | Class I PI3K signaling events mediated by Akt |
| kegg | hsa04014 | Ras signaling pathway - Homo sapiens (human) |
| kegg | hsa04064 | NF-kappa B signaling pathway - Homo sapiens (human) |
| kegg | hsa04137 | Mitophagy - animal - Homo sapiens (human) |
| kegg | hsa04140 | Autophagy - animal - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa04215 | Apoptosis - multiple species - Homo sapiens (human) |
| kegg | hsa04621 | NOD-like receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04630 | Jak-STAT signaling pathway - Homo sapiens (human) |
| kegg | hsa05014 | Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human) |
| kegg | hsa05145 | Toxoplasmosis - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05212 | Pancreatic cancer - Homo sapiens (human) |
| kegg | hsa05220 | Chronic myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05222 | Small cell lung cancer - Homo sapiens (human) |
| kegg | hsa05225 | Hepatocellular carcinoma - Homo sapiens (human) |
| pharmgkb | PA165374494 | Busulfan Pathway, Pharmacodynamics |
| netpath | Pathway_TNFalpha | TNFalpha |
| wikipathways | WP1772 | Apoptosis Modulation and Signaling |
| wikipathways | WP2034 | Leptin signaling pathway |
| wikipathways | WP205 | IL-7 Signaling Pathway |
| wikipathways | WP231 | TNF alpha Signaling Pathway |
| wikipathways | WP2447 | Amyotrophic lateral sclerosis (ALS) |
| wikipathways | WP254 | Apoptosis |
| wikipathways | WP2593 | JAK-STAT |
| wikipathways | WP286 | IL-3 Signaling Pathway |
| wikipathways | WP3611 | Photodynamic therapy-induced AP-1 survival signaling. |
| wikipathways | WP3614 | Photodynamic therapy-induced HIF-1 survival signaling |
| wikipathways | WP3639 | Apoptotic Signaling Pathway |
| wikipathways | WP364 | IL-6 signaling pathway |
| wikipathways | WP3646 | Hepatitis C and Hepatocellular Carcinoma |
| wikipathways | WP3657 | Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex |
| wikipathways | WP3672 | LncRNA-mediated mechanisms of therapeutic resistance |
| wikipathways | WP3872 | Regulation of Apoptosis by Parathyroid Hormone-related Protein |
| wikipathways | WP3888 | VEGFA-VEGFR2 Signaling Pathway |
| wikipathways | WP4066 | Interleukin-4 and 13 signaling |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP4223 | Ras Signaling |
| reactome | R-HSA-109581 | Apoptosis |
| reactome | R-HSA-109606 | Intrinsic Pathway for Apoptosis |
| reactome | R-HSA-111453 | BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168643 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-5357801 | Programmed Cell Death |
| reactome | R-HSA-622312 | Inflammasomes |
| reactome | R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling |
| reactome | R-HSA-844455 | The NLRP1 inflammasome |
| biocarta | aifpathway | opposing roles of aif in apoptosis and cell survival |
| biocarta | badpathway | regulation of bad phosphorylation |
| biocarta | chemicalpathway | apoptotic signaling in response to dna damage |
| biocarta | il2rbpathway | il-2 receptor beta chain in t cell activation |
| biocarta | mitochondriapathway | role of mitochondria in apoptotic signaling |
| biocarta | raspathway | ras signaling pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD698 | Neratinib | 1 |
| iGMDRD435 | BI-2536 | 1 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD150 | RITA | 1 |
| iGMDRD871 | BRD6368 | 4 |
| iGMDRD414 | MST-312 | 2 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD872 | BRD7137 | 1 |
| iGMDRD366 | PI-103 | 3 |
| iGMDRD505 | Pevonedistat | 2 |
| iGMDRD42 | Vorinostat | 3 |
| iGMDRD434 | BMS-536924 | 4 |
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD267 | Oligomycin A | 1 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD679 | Bistramide A | 3 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD126 | Tipifarnib | 5 |
| iGMDRD387 | CHIR-99021 | 1 |
| iGMDRD144 | NSC95397 | 2 |
| iGMDRD781 | Sirolimus | 1 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD506 | Fedratinib | 5 |
| iGMDRD577 | BIX01294 | 3 |
| iGMDRD398 | Sepantronium | 1 |
| iGMDRD780 | PP-30 | 1 |
| iGMDRD60 | Quinoclamine | 3 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD524 | ISX-9 | 5 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD568 | SCHEMBL15005512 | 1 |
| iGMDRD782 | DC-45-A2 | 2 |
| iGMDRD885 | Compound 110 | 5 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BCL2L1
CLASSFICATION
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