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 |
| MCL1 | paralogy | Gorilla |
| BAK1 | paralogy | Gorilla |
| BCL2 | paralogy | Gorilla |
| BCL2L2 | paralogy | Gorilla |
| BAX | paralogy | Gorilla |
| BOK | 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 |
| BAX | paralogy | Medaka |
| BCL2 | paralogy | Medaka |
| M_domestica_ENSMODP00000005598 | paralogy | Monodelphis |
| BCL2 | paralogy | Monodelphis |
| BAX | paralogy | Monodelphis |
| BAK1 | paralogy | Monodelphis |
| BOK | paralogy | Monodelphis |
| MCL1 | paralogy | Monodelphis |
| BCL2A1 | paralogy | Monodelphis |
| M_domestica_ENSMODP00000037249 | paralogy | Monodelphis |
| Bcl2a1a | paralogy | Mouse |
| Bcl2 | paralogy | Mouse |
| Bcl2l2 | paralogy | Mouse |
| Bok | paralogy | Mouse |
| Bax | paralogy | Mouse |
| Mcl1 | paralogy | Mouse |
| Bcl2a1d | paralogy | Mouse |
| Bak1 | paralogy | Mouse |
| Bcl2a1a | 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 |
| BCL2 | paralogy | Tetraodon |
| BOK (1 of 2) | paralogy | Tetraodon |
| MCL1 | paralogy | Tetraodon |
| T_nigroviridis_ENSTNIP00000017211 | paralogy | Tetraodon |
| BOK (2 of 2) | 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 |
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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.
