BCL2L1 (Homo sapiens)
Description [+]
- Synonyms: BCL2L1, BCLX, BCL2L, BCL-X, BCL-XL, BCL-XS
- Species: Metazoa;Bilateria;Deuterostoma;Chordata;Vertebrata;Mammalia;Primates;Hominidae; Homo sapiens
- Short gene description: Apoptosis regulator Bcl-X (Bcl-2-like 1 protein) [Source:UniProtKB/Swiss-Prot;Acc:Q07817]
- Family: Bcl-2 family : multidomain Bcl-2
- Process: apoptosis,
- Pathways: intrinsic pathway, pre-mitochondrial signaling events,
- Criteria: manually curated
- Curator comment:
- Mouse ortholog(s): Bcl2l1
- WIKI: BCL2L1-H_sapiens
References [+]
- bcl-x, a bcl-2-related gene that functions as a dominant regulator of apoptotic cell death.
- Boise LH, Gonzalez-Garcia M, Postema CE, Ding L, Lindsten T, Turka LA, Mao X, Nunez G, Thompson CB
- We report the isolation of bcl-x, a bcl-2-related gene that can function as a bcl-2-independent regulator of programmed cell death (apoptosis). Alternative splicing results in two distinct bcl-x mRNAs. The protein product of the larger mRNA, bcl-xL, is similar in size and predicted structure to Bcl-2. When stably transfected into an IL-3-dependent cell line, bcl-xL inhibits cell death upon growth factor withdrawal at least as well as bcl-2. Surprisingly, the second mRNA species, bcl-xS, encodes a protein that inhibits the ability of bcl-2 to enhance the survival of growth factor-deprived cells. In vivo, bcl-xS mRNA is expressed at high levels in cells that undergo a high rate of turnover, such as developing lymphocytes. In contrast, bcl-xL is found in tissues containing long-lived postmitotic cells, such as adult brain. Together these data suggest that bcl-x plays an important role in both positive and negative regulation of programmed cell death. Cell. 1993 Aug 27;74(4):597-608.
- References from Mouse ortholog(s):
- Cloning and molecular characterization of mouse bcl-x in B and T lymphocytes.
- Fang W, Rivard JJ, Mueller DL, Behrens TW
- We report the cloning and initial characterization of the mouse homologues of the bcl-2-related gene, bcl-x. We compare these to the two major isoforms of human bcl-x that were previously identified, bcl-xLong (bcl-xL) which has death repressor activity similar to bcl-2, and bcl-xShort (bcl-xS), an alternative mRNA splice product that deletes a highly conserved domain shared by bcl-2 family members and promotes cell death in transfection studies. In addition to murine (m) bcl-xL and mbcl-xS, we have cloned a novel cDNA isoform that we designate mbcl-x delta TM. This cDNA deletes, by means of alternative splicing, the carboxy terminal transmembrane domain of bcl-x and is predicted to be a soluble, rather than membrane-bound, protein. We found that mbcl-x mRNA is highly inducible in splenocytes stimulated with either anti-CD3 Abs or LPS/dextran sulfate, and that the major species of mbcl-x mRNA in a variety of cell lines and tissues was the xL isoform. Transfection of mbcl-xL or mbcl-xS into Hela cells resulted in targeting primarily to mitochondria, whereas mbcl-x delta TM localized diffusely throughout the cytosol. Overexpression of the novel delta TM isoform in an IL-3-dependent cell line delayed the onset of apoptosis induced by growth factor withdrawal. Thus, a naturally-occurring form of mbcl-x present in lymphocytes that does not localize to the mitochondrial membrane is functional in preventing apoptotic cell death. Moreover, these data suggest that bcl-x provides a life signal in activated lymphocytes. J Immunol. 1994 Nov 15;153(10):4388-98.
Structure & Sequence [+]
Pfam domains:
(Pfam is a large collection of protein families.)
| Source | Domain Name | Start | End |
|---|---|---|---|
| PFAM A | BH4 | 1 | 27 |
| PFAM A | Bcl-2 | 90 | 188 |
Protein sequence [+]
BCL2L1 | Homo sapiens | 9606 | length:233
MSQSNRELVVDFLSYKLSQKGYSWSQFSDVEENRTEAPEGTESEMETPSAINGNPSWHLA
DSPAVNGATGHSSSLDAREVIPMAAVKQALREAGDEFELRYRRAFSDLTSQLHITPGTAY
QSFEQVVNELFRDGVNWGRIVAFFSFGGALCVESVDKEMQVLVSRIAAWMATYLNDHLEP
WIQENGGWDTFVELYGNNAAAESRKGQERFNRWFLTGMTVAGVVLLGSLFSRK
DSPAVNGATGHSSSLDAREVIPMAAVKQALREAGDEFELRYRRAFSDLTSQLHITPGTAY
QSFEQVVNELFRDGVNWGRIVAFFSFGGALCVESVDKEMQVLVSRIAAWMATYLNDHLEP
WIQENGGWDTFVELYGNNAAAESRKGQERFNRWFLTGMTVAGVVLLGSLFSRK
Structure links:
- Smartdomain prediction information: SM00265
- Smartdomain prediction information: SM00337
- Prosite motif and domain information: PS01080
- Prosite motif and domain information: PS01258
- Prosite motif and domain information: PS01259
- Prosite motif and domain information: PS01260
- Profile motif and domain profile information: PS50062
- Profile motif and domain profile information: PS50063
- Interpro domain information: Q07817
- PFAM domain and domain family information: Q07817
- Protein 3D structures from PDB: 1YSN 2B48 2O1Y 2O2M 2O2N 2P1L 2YXJ 1LXL 1MAZ 1R2D 1R2E 1R2G 1R2H 1R2I 1YSG 1YSI 1G5J 1BXL
Evolution [+]
View protein alignment and tree with Jalview:
Explore tree at phylomeDB: Click here.
Homologs list [+]
| Name | Relationship | Species |
|---|---|---|
| BCLX_CHICK | orthology | Chicken |
| BCL2L1 | orthology | Chimpanzee |
| NP_001070954.1 | orthology | Cow |
| NP_001003072.1 | orthology | Dog |
| BCL2L1 (6 of 6) | orthology | Fugu |
| BCL2L1 (5 of 6) | orthology | Fugu |
| BCL2L1 (1 of 6) | orthology | Fugu |
| BCL2L1 (2 of 6) | orthology | Fugu |
| BCL2L1 (3 of 6) | orthology | Fugu |
| BCL2L1 (4 of 6) | orthology | Fugu |
| BCL2L1 (1 of 2) | orthology | Gasterosteus |
| BCL2L1 (2 of 2) | orthology | Gasterosteus |
| BCL2L1 | orthology | Horse |
| BCL2L1 | orthology | Lyzard |
| BCL2L1 | orthology | Macaca |
| BCL2L1 | orthology | Medaka |
| BCL2L1 | orthology | Monodelphis |
| Bcl2l1 | orthology | Mouse |
| BCL2L1 | orthology | Orangutan |
| Q9MYW4_RABIT | orthology | Rabbit |
| BCLX_RAT | orthology | Rat |
| BCL2L1 (1 of 3) | orthology | Tetraodon |
| BCL2L1 (2 of 3) | orthology | Tetraodon |
| BCL2L1 (3 of 3) | orthology | Tetraodon |
| BCL2L1 | orthology | Xenopus |
| BCL2L1 | orthology | Zebra finch |
| bcl2l | orthology | Zebrafish |
| A_aegypti_AAEL001515-PA | paralogy | Aedes |
| A_aegypti_AAEL001521-PA | paralogy | Aedes |
| Q2PHG8_ANOGA | paralogy | Anopheles |
| BOK_CHICK | paralogy | Chicken |
| NP_990197.1 | paralogy | Chicken |
| BCL2_CHICK | paralogy | Chicken |
| NP_001026091.1 | paralogy | Chicken |
| MCL1 | paralogy | Chimpanzee |
| BCL2L2 | paralogy | Chimpanzee |
| BCL2 | paralogy | Chimpanzee |
| BAX | paralogy | Chimpanzee |
| XR_024448.1 | paralogy | Chimpanzee |
| C_intestinalis_ENSCINP00000000654 | paralogy | Ciona |
| NP_001071386.1 | paralogy | Cow |
| B2LA1_BOVIN | paralogy | Cow |
| NP_001092338.1 | paralogy | Cow |
| BAX_BOVIN | paralogy | Cow |
| NP_001092676.1 | paralogy | Cow |
| Q462R3_BOVIN | paralogy | Cow |
| BCLW_BOVIN | paralogy | Cow |
| IPI00908204.1 | paralogy | Cow |
| BCL2 | paralogy | Dog |
| NP_001018644.1 | paralogy | Dog |
| MCL1_CANFA | paralogy | Dog |
| debcl | paralogy | Fly |
| Buffy | paralogy | Fly |
| MCL1 | paralogy | Fugu |
| T_rubripes_ENSTRUP00000006891 | paralogy | Fugu |
| BCL2 | paralogy | Fugu |
| BOK (1 of 2) | paralogy | Fugu |
| BAX | paralogy | Fugu |
| BOK (1 of 2) | paralogy | Gasterosteus |
| BCL2 | paralogy | Gasterosteus |
| MCL1 | paralogy | Gasterosteus |
| BOK (2 of 2) | paralogy | Gasterosteus |
| BAX | paralogy | Gasterosteus |
| G_aculeatus_ENSGACP00000018978 | paralogy | Gasterosteus |
| BCL2 | paralogy | Gorilla |
| BCL2L2 | paralogy | Gorilla |
| BAX | paralogy | Gorilla |
| BOK | paralogy | Gorilla |
| MCL1 | paralogy | Gorilla |
| BAK1 | paralogy | Gorilla |
| BCL2L2 | paralogy | Horse |
| MCL1 | paralogy | Horse |
| BCL2 | paralogy | Horse |
| BAK1 | paralogy | Horse |
| BCL2L2 | paralogy | Human |
| BAX | paralogy | Human |
| BOK | paralogy | Human |
| MCL1 | paralogy | Human |
| BAK1 | paralogy | Human |
| BCL2 | paralogy | Human |
| BOK | paralogy | Lyzard |
| A_carolinensis_ENSACAP00000004550 | paralogy | Lyzard |
| MCL1 | paralogy | Lyzard |
| BAK1 | paralogy | Lyzard |
| BAX | paralogy | Lyzard |
| BCL2 | paralogy | Lyzard |
| BAX | paralogy | Macaca |
| BOK | paralogy | Macaca |
| BCL2 | paralogy | Macaca |
| MCL1 | paralogy | Macaca |
| BAK1 | paralogy | Macaca |
| BCL2L2 | paralogy | Macaca |
| BCL2 | paralogy | Medaka |
| BAX | paralogy | Medaka |
| BAX | paralogy | Monodelphis |
| BAK1 | paralogy | Monodelphis |
| BOK | paralogy | Monodelphis |
| MCL1 | paralogy | Monodelphis |
| BCL2A1 | paralogy | Monodelphis |
| M_domestica_ENSMODP00000037249 | paralogy | Monodelphis |
| M_domestica_ENSMODP00000005598 | paralogy | Monodelphis |
| BCL2 | paralogy | Monodelphis |
| Bcl2l2 | paralogy | Mouse |
| Bok | paralogy | Mouse |
| Bax | paralogy | Mouse |
| Mcl1 | paralogy | Mouse |
| Bcl2a1d | paralogy | Mouse |
| Bak1 | paralogy | Mouse |
| Bcl2a1a | paralogy | Mouse |
| Bcl2a1a | paralogy | Mouse |
| Bcl2 | paralogy | Mouse |
| MCL1 | paralogy | Orangutan |
| P_pygmaeus_ENSPPYP00000006150 | paralogy | Orangutan |
| BCL2 | paralogy | Orangutan |
| BOK | paralogy | Orangutan |
| BOK | paralogy | Ornithorhynchus |
| BCL2L2 | paralogy | Ornithorhynchus |
| BCL2A1 | paralogy | Ornithorhynchus |
| BAK1 | paralogy | Rabbit |
| BAX | paralogy | Rabbit |
| MCL1 | paralogy | Rabbit |
| Bak1 | paralogy | Rat |
| Bcl2 | paralogy | Rat |
| Bok | paralogy | Rat |
| LOC684140 | paralogy | Rat |
| Bax | paralogy | Rat |
| RGD1562809_predicted | paralogy | Rat |
| R_norvegicus_ENSRNOP00000052069 | paralogy | Rat |
| RGD1565822_predicted | paralogy | Rat |
| T_nigroviridis_ENSTNIP00000017211 | paralogy | Tetraodon |
| BOK (2 of 2) | paralogy | Tetraodon |
| BCL2 | paralogy | Tetraodon |
| BOK (1 of 2) | paralogy | Tetraodon |
| MCL1 | paralogy | Tetraodon |
| MCL1 | paralogy | Xenopus |
| bcl2l2 | paralogy | Xenopus |
| bax | paralogy | Xenopus |
| BCL2 | paralogy | Xenopus |
| BAK1 | paralogy | Xenopus |
| BCL2 | paralogy | Zebra finch |
| BOK | paralogy | Zebra finch |
| BCL2A1 | paralogy | Zebra finch |
| mcl1b | paralogy | Zebrafish |
| mcl1a | paralogy | Zebrafish |
| baxa | paralogy | Zebrafish |
| D_rerio_ENSDARP00000037180 | paralogy | Zebrafish |
| BAXB | paralogy | Zebrafish |
| boka | paralogy | Zebrafish |
| bcl2 | paralogy | Zebrafish |
DeathBase uses Jalview, an external application that requires Java. Please, check that you have the latest version of Java
installed and that Java is enabled in your browser. When correctly installed your browser should display the following examples properly. You can download the latest version of Java at Java Download Site.
Gene Ontology [+]
| GO id | Name | Ontology type | Evidence |
|---|---|---|---|
| GO:0042981 | regulation of apoptosis | biological_proccess | IEA |
| GO:0001836 | release of cytochrome c from mitochondria | biological_proccess | IDA |
| GO:0046902 | regulation of mitochondrial membrane permeability | biological_proccess | IDA |
| GO:0006916 | anti-apoptosis | biological_proccess | IDA |
| GO:0008634 | negative regulation of survival gene product expression | biological_proccess | TAS |
| GO:0034097 | response to cytokine stimulus | biological_proccess | IDA |
| GO:0051881 | regulation of mitochondrial membrane potential | biological_proccess | IDA |
| GO:0043434 | response to peptide hormone stimulus | biological_proccess | IEA |
| GO:0001666 | response to hypoxia | biological_proccess | IEA |
| GO:0010035 | response to inorganic substance | biological_proccess | IEA |
| GO:0014070 | response to organic cyclic substance | biological_proccess | IEA |
| GO:0042542 | response to hydrogen peroxide | biological_proccess | IEA |
| GO:0006979 | response to oxidative stress | biological_proccess | IEA |
| GO:0010243 | response to organic nitrogen | biological_proccess | IEA |
| GO:0001541 | ovarian follicle development | biological_proccess | IEA |
| GO:0006916 | anti-apoptosis | biological_proccess | IEA |
| GO:0010288 | response to lead ion | biological_proccess | IEA |
| GO:0001701 | in utero embryonic development | biological_proccess | IEA |
| GO:0007281 | germ cell development | biological_proccess | IEA |
| GO:0007283 | spermatogenesis | biological_proccess | IEA |
| GO:0045768 | positive regulation of anti-apoptosis | biological_proccess | IEA |
| GO:0008284 | positive regulation of cell proliferation | biological_proccess | IEA |
| GO:0009566 | fertilization | biological_proccess | IEA |
| GO:0043065 | positive regulation of apoptosis | biological_proccess | IEA |
| GO:0043524 | negative regulation of neuron apoptosis | biological_proccess | IEA |
| GO:0008584 | male gonad development | biological_proccess | IEA |
| GO:0051789 | response to protein stimulus | biological_proccess | IEA |
| GO:0001836 | release of cytochrome c from mitochondria | biological_proccess | IEA |
| GO:0009314 | response to radiation | biological_proccess | IEA |
| GO:0040007 | growth | biological_proccess | IEA |
| GO:0046898 | response to cycloheximide | biological_proccess | IEA |
| GO:0042802 | identical protein binding | mollecular_function | IPI |
| GO:0005515 | protein binding | mollecular_function | IEA |
| GO:0043027 | caspase inhibitor activity | mollecular_function | IEA |
| GO:0046982 | protein heterodimerization activity | mollecular_function | IEA |
| GO:0005739 | mitochondrion | cell_component | IDA |
| GO:0016020 | membrane | cell_component | IEA |
| GO:0005741 | mitochondrial outer membrane | cell_component | EXP |
| GO:0005634 | nucleus | cell_component | IEA |
| GO:0016021 | integral to membrane | cell_component | IEA |
| GO:0005741 | mitochondrial outer membrane | cell_component | IEA |
| GO:0005740 | mitochondrial envelope | cell_component | IEA |
| GO:0005622 | intracellular | cell_component | IEA |
| GO:0005829 | cytosol | cell_component | IEA |
| GO:0031966 | mitochondrial membrane | cell_component | IEA |
Check GO Evidence Codes here
Curated Isoforms [+]
Info from The Vertebrate Genome Annotation (VEGA) database.
(*) Canonical transcript and translation forms.
Information from other databases [+]
- Gene info from HGNC [?] :992
- Gene related info from GeneCards [?] : BCL2L1
- Ensembl genome browser [?] : ENSG00000171552
- Expression info from Arrayexpress [?] : ENSG00000171552
- Protein expression from Protein Atlas: [?] ENSG00000171552
- Community gene edition from Wikigenes: [?] 598
- OMIM gene information: 600039
- OMIM disease information:
Click on [?] for more information.
