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FLASH GENE
Symbol BCL2L1 contributors: mct/npt - updated : 29-09-2017
HGNC name BCL2-like 1
HGNC id 992
Location 20q11.21      Physical location : 30.252.262 - 30.310.656
Synonym symbol(s) BCL2L, BCLX, BCLXL, BCLXS, BCL-XL/S, Bcl-X, DKFZp781P2092, PPP1R52
DNA
TYPE functioning gene
STRUCTURE 59.55 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
Binding site
text structure two TATA boxes
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
text alternative splicing of exon 2 in its pre-mRNA (PMID: 22440396)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 splicing 2386 18.8 170 highly in cells with rapid turnover (lymphocyte) 2012 22440396
  • BCL-X(S), anti-apoptotic
  • heterodimer with BCL2, promoting apoptosis
  • containing exon 2b (shorter than 2a)
  • 3 splicing 2575 26 233 highly expressed in brain (in long-lived post mitotic cells) 2012 22440396
  • BCLXL, pro-apoptotic
  • heterodimer with BAK and BAX, cell death repressor activity
  • containing exon 2a (longer than 2b)
  • encodig for the longest product
  • appears to play a prominent role in the regulation of multiple distinct types of cell death, including apoptosis and regulated necrosis
  • 3 - 2453 26 233 - 2012 22440396
    3 - 2582 26 233 - 2012 22440396
    3 - 2471 26 233 - 2012 22440396
    3 - 2600 26 233 - 2012 22440396
    3 - 2798 26 233 - 2012 22440396
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveintestinelarge intestinecolon moderately
     liver   highly
     stomach   highly
    Endocrinepancreas   highly
     thyroid   highly
    Nervousbrain   highly
     nervecranial nerve  moderately
    Reproductivefemale systemovary  highly
     female systemuterus  moderately
     male systemprostate  moderately
    Respiratorylung   moderately
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrinemoderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • including BH1, BH2, BH3, BH4 domains
  • C-terminal transmembrane domain, that can by itself direct protein oligomerization, which could be related to its previously reported role in mitochondrial morphology alterations and apoptosis inhibition , C-terminal tail forms a transmembrane alpha-helix that retains a significant degree of conformational dynamics and the presence of the intact C-terminus destabilizes the soluble state of the protein
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Bcl2l1 (97.85 pc)
    Homologene
    FAMILY
  • BCL2-like apoptosis inhibitors family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nuclear envelope
    basic FUNCTION
  • involved in regulation of cell death by blocking the voltage dependent anion channel (VDAC)
  • has a role in preventing BAX activation at the mitochondrial membrane
  • inhibits p53-induced apoptosis in head and neck neoplasms
  • anti/pro-apoptotic regulatory activity
  • dispensable for germinal center formation
  • MCL1 and BCL2L1 function in the same apoptotic pathway
  • suppress serum deprivation-induced cell death, while ROMO1 is responsible for a serum deprivation-induced increase in reactive oxygen species (ROS)
  • can bind pro-apoptotic members of this family preventing them from activating the execution phase of apoptosis
  • ensures the survival of both developing and peripheral T cells, which is essential for a functional immune system
  • combination of BCL2L1 and MCL1 is essential for the viability of the megakaryocyte lineage
  • BCL2L1, and PMAIP1 co-ordinately regulate oxidative stress-induced apoptosis
  • permeabilize the outer mitochondrial membrane of cells and inhibit the regulation of apoptosis, tumor genesis and cellular responses to anti-cancer therapy
  • BCL2L1 regulates neuronal outgrowth during development and protects neurites from hypoxic insult, as opposed by TNFRSF21
  • is an anti-apoptotic BCL2 family protein found both in the cytosol and bound to intracellular membranes
  • despite its role in BAX inhibition, BL2L1 also likely primes mitochondria to permeabilization and cytochrome c release
  • critical role of BL2L1, an anti-apoptotic protein, during brain development
  • unanticipated functions for BCL2 proteins as transcriptional regulators
  • CELLULAR PROCESS cell life, cell death/apoptosis
    cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • BCLXL dimerizing with BAX and BAK
  • BCLXS dimerizing with BCL2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to APAF1
  • interacting with BNIP3 (critically regulates the apoptosis of terminally differentiated chondrocytes)
  • interacting with PLK1 (regulator of its phosphorylation and controling its anti-apoptotic function under certain specific conditions) ((Tamura 2009)
  • BCL2L1 and BIRC5 can critically contribute in a cooperative, nonredundant manner to augment the accumulation and persistence of CD8(+) T cells following encounter with Antigen
  • recruited by ROMO1 to reduce the mitochondrial membrane potential, resulting in ROS production and apoptotic cell death
  • TCERG1 regulates alternative splicing of the apoptosis gene BCL2L1 in a promoter-dependent manner
  • BAX BH3 domain complexing with the pro-survival proteins MCL1 and BCL2L1
  • HEBP2 interacts with the anti-apoptotic protein BCL2L1
  • PARK7 protects cells against UVB-induced cell death dependent on its oxidation and its association with mitochondrial BCL2L1
  • can bind pro-apoptotic members of BCL2 family, preventing them from activating the execution phase of apoptosis
  • plays a critical role in the survival of neuronal populations by regulating the multi-BH domain protein BAX
  • interaction with VDAC1, mediating BCL2L1 protection against apoptosis (BCL2L1 acting as antiapoptotic protein, promoting tumor cell survival via binding to VDAC1)
  • YAP1, CTNNB1 and TBX5 form a complex that regulates the expression of genes that promote survival, including BIRC5 and BCL2L1
  • ATXN3 promotes the interaction between BCL2L1 and BAX, but does not affect the ubiquitination and degradation of BCL2L1
  • interaction between BCL2 and BL2L1 with a stress chaperone, mortalin (HSPA9)
  • antiapoptotic BCL2L1 opposes this activity by sequestering cytosolic TP53 via association with its DNA-binding domain, an interaction enhanced by TP53 tetramerization
  • BCL2L1 protein protects from DDIT3-dependent apoptosis during plasma cell differentiation
  • BCL2L1 regulates CD1D-mediated Ag processing and presentation to NKT cells by altering the late endosomal compartment and changing the intracellular localization of CD1D
  • SYK binds robustly to nucleolin and phosphorylates it on tyrosine, enhancing its ability to bind the BCL2L1 mRNA
  • PI3K/AKT1 regulates survival during differentiation of macrophages by maintaining NFKB1-dependent expression of antiapoptotic BCL2L1
  • PACS2 is a mediator of the ATM and NFkB1-dependent induction of BCL2L1 that promotes cell survival in response to DNA damage
  • BCL2L1 is an exosomal CASP3 substrate and this processing is required for the uptake of exosomes by recipient cells
  • PGAM5 might participate in the degradation of BCL2L1 mediated by KEAP1
  • PRKN tumor suppressor controls the apoptotic regulator BCL2L1 and modulates programmed cell death
  • BCL2 proteins directly promote SUFU turnover, inhibit SUFU-GLI interaction, and induce the expression of the GLI target genes BCL2, MCL1 and BCL2L1
  • cell & other
    REGULATION
    inhibited by by overexpression of TARDBP
    Other regulated by HIV-Tat
    proteolytically cleaved by caspase during apoptosis
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    mutated in non-Hodgkin lymphoma
    constitutional     --over  
    increased expression and redistribution of BCLXL in Parkinson disease
    constitutional     --other  
    dysregulated expression in polycythemia vera, contributing to the pathogenesis of this disorder
    tumoral fusion      
    BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in Burkitt lymphoma
    constitutional     --over  
    increased expression, which is observed in many cancer cells, confers resistance to oxidative stress in the cancer cells by suppressing ROMO1-mediated oxidative stress (
    constitutional     --low  
    in SMA
    Susceptibility
  • parkinson disease
  • non-Hodgkin lymphoma
  • polycythemia vera
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularspinal muscular atrophy 
    potential target in SMA therapeutics
    ANIMAL & CELL MODELS
  • selective loss of these Bcl-xL-dependent neurons results in mice exhibiting severe neurobehavioral abnormalities, including self-injurious and risk-taking behaviors, hyperactivity, and learning and memory defects