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Aliases for BCL2L1 Gene

Aliases for BCL2L1 Gene

  • BCL2 Like 1 2 3
  • Apoptosis Regulator Bcl-X 3 4
  • BCL2-Like 1 3 5
  • BCL2L 3 4
  • BCLX 3 4
  • Protein Phosphatase 1, Regulatory Subunit 52 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 52 2
  • BCL-XL/S 3
  • Bcl2-L-1 4
  • PPP1R52 3
  • Bcl-X 3

External Ids for BCL2L1 Gene

Previous GeneCards Identifiers for BCL2L1 Gene

  • GC20M030040
  • GC20M030950
  • GC20M030997
  • GC20M029715
  • GC20M030252
  • GC20M027040

Summaries for BCL2L1 Gene

Entrez Gene Summary for BCL2L1 Gene

  • 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]

GeneCards Summary for BCL2L1 Gene

BCL2L1 (BCL2 Like 1) is a Protein Coding gene. Diseases associated with BCL2L1 include Lung Cancer and Colorectal Cancer. Among its related pathways are HTLV-I infection and p53 Pathway (RnD). GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is BAK1.

UniProtKB/Swiss-Prot for BCL2L1 Gene

  • Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis.

  • Isoform Bcl-X(L) also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles. May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).

  • Isoform Bcl-X(S) promotes apoptosis.

Tocris Summary for BCL2L1 Gene

  • Bcl-2 family proteins contribute to programmed cell death or apoptosis. It is a large protein family and all members contain at least one of four Bcl-2 homology domains. Certain members (Bcl-2, Bcl-XL and Mcl-1) are antiapoptotic, whilst others (Bax, Bak, Bok) are proapoptotic.

Gene Wiki entry for BCL2L1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL2L1 Gene

Genomics for BCL2L1 Gene

Regulatory Elements for BCL2L1 Gene

Enhancers for BCL2L1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BCL2L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BCL2L1 Gene

Chromosome:
20
Start:
31,664,452 bp from pter
End:
31,723,989 bp from pter
Size:
59,538 bases
Orientation:
Minus strand

Genomic View for BCL2L1 Gene

Genes around BCL2L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL2L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL2L1 Gene

Proteins for BCL2L1 Gene

  • Protein details for BCL2L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07817-B2CL1_HUMAN
    Recommended name:
    Bcl-2-like protein 1
    Protein Accession:
    Q07817
    Secondary Accessions:
    • E1P5L6
    • Q5CZ89
    • Q5TE65
    • Q92976

    Protein attributes for BCL2L1 Gene

    Size:
    233 amino acids
    Molecular mass:
    26049 Da
    Quaternary structure:
    • Homodimer. Isoform Bcl-X(L) forms heterodimers with BAX, BAK or BCL2. Heterodimerization with BAX does not seem to be required for anti-apoptotic activity. Interacts with BCL2L11. Interacts with BAD. Interacts (isoform Bcl-X(L)) with SIVA1 (isoform 1); the interaction inhibits the anti-apoptotic activity. Interacts with BECN1 and PGAM5. Isoform Bcl-X(L) interacts with IKZF3. Interacts with HEBP2. Isoform Bcl-X(L) interacts with BOP/C22orf29. Interacts with p53/TP53 and BBC3; interaction with BBC3 disrupts the interaction with p53/TP53. Isoform Bcl-X(L) interacts with DNM1L and CLTA; DNM1L and BCL2L1 isoform BCL-X(L) may form a complex in synaptic vesicles that also contains clathrin and MFF. Interacts with ATP5A and ATP5B; the interactions mediate the association of isoform Bcl-X(L) with the mitochondrial membrane ATP synthase F(1)F(0) ATP synthase. Interacts with VDAC1 (PubMed:25296756). Isoform Bcl-X(L) interacts (via the loop between motifs BH4 and BH3) with NLRP1 (via LRR repeats), but not with NLRP2, NLRP3, NLRP4, PYCARD, nor MEFV (PubMed:17418785).

    Three dimensional structures from OCA and Proteopedia for BCL2L1 Gene

    Alternative splice isoforms for BCL2L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL2L1 Gene

Proteomics data for BCL2L1 Gene at MOPED

Post-translational modifications for BCL2L1 Gene

  • Phosphorylated on Ser-62 by CDK1. This phosphorylation is partial in normal mitotic cells, but complete in G2-arrested cells upon DNA-damage, thus promoting subsequent apoptosis probably by triggering caspases-mediated proteolysis. Phosphorylated by PLK3, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosis. Phosphorylation at Ser-49 appears during the S phase and G2, disappears rapidly in early mitosis during prometaphase, metaphase and early anaphase, and re-appears during telophase and cytokinesis.
  • Proteolytically cleaved by caspases during apoptosis. The cleaved protein, lacking the BH4 motif, has pro-apoptotic activity.
  • Ubiquitination at Lys 16 and Lys 87
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BCL2L1 (Bcl-xL)

No data available for DME Specific Peptides for BCL2L1 Gene

Domains & Families for BCL2L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q07817

UniProtKB/Swiss-Prot:

B2CL1_HUMAN :
  • The BH4 motif is required for anti-apoptotic activity. The BH1 and BH2 motifs are required for both heterodimerization with other Bcl-2 family members and for repression of cell death.
  • Belongs to the Bcl-2 family.
Domain:
  • The BH4 motif is required for anti-apoptotic activity. The BH1 and BH2 motifs are required for both heterodimerization with other Bcl-2 family members and for repression of cell death.
  • The loop between motifs BH4 and BH3 is required for the interaction with NLRP1.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BCL2L1: view

Function for BCL2L1 Gene

Molecular function for BCL2L1 Gene

UniProtKB/Swiss-Prot Function:
Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis.
UniProtKB/Swiss-Prot Function:
Isoform Bcl-X(L) also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles. May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).
UniProtKB/Swiss-Prot Function:
Isoform Bcl-X(S) promotes apoptosis.
genes like me logo Genes that share phenotypes with BCL2L1: view

Animal Models for BCL2L1 Gene

MGI Knock Outs for BCL2L1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCL2L1 Gene

Localization for BCL2L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL2L1 Gene

Isoform Bcl-X(L): Mitochondrion inner membrane. Mitochondrion outer membrane. Mitochondrion matrix. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus membrane; Single-pass membrane protein; Cytoplasmic side. Note=After neuronal stimulation, translocates from cytosol to synaptic vesicle and mitochondrion membrane in a calmodulin-dependent manner (By similarity). Localizes to the centrosome when phosphorylated at Ser-49. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCL2L1 Gene COMPARTMENTS Subcellular localization image for BCL2L1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 2
extracellular 2
plasma membrane 2
vacuole 2
lysosome 1

Gene Ontology (GO) - Cellular Components for BCL2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol IEA --
GO:0030672 synaptic vesicle membrane IEA --
GO:0097136 Bcl-2 family protein complex IDA 21199865
genes like me logo Genes that share ontologies with BCL2L1: view

Pathways & Interactions for BCL2L1 Gene

genes like me logo Genes that share pathways with BCL2L1: view

Pathways by source for BCL2L1 Gene

SIGNOR curated interactions for BCL2L1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BCL2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis IMP 21840391
GO:0001541 ovarian follicle development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001836 release of cytochrome c from mitochondria IEA,IDA 9843949
GO:0006897 endocytosis IEA --
genes like me logo Genes that share ontologies with BCL2L1: view

Drugs & Compounds for BCL2L1 Gene

(90) Drugs for BCL2L1 Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lomustine Approved Pharma Antineoplastic drug 78
Mitomycin Approved Pharma Inhibits DNA synthesis,antibiotic and antitumor agent 0
4'-FLUORO-1,1'-BIPHENYL-4-CARBOXYLIC ACID Experimental Pharma Target 0
Bax inhibitor peptide P5 Pharma Bax inhibitor, Inhibitor of Bax-mediated apoptosis 0
Bax inhibitor peptide V5 Pharma Bax inhibitor, Inhibitor of Bax-mediated apoptosis 0

(71) Additional Compounds for BCL2L1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Bax inhibitor peptide, negative control
1315378-74-5
SMBA 1
906440-37-7

(5) Tocris Compounds for BCL2L1 Gene

Compound Action Cas Number
Bax inhibitor peptide P5 Inhibitor of Bax-mediated apoptosis 579492-83-4
Bax inhibitor peptide V5 Inhibitor of Bax-mediated apoptosis 579492-81-2
Bax inhibitor peptide, negative control Negative control peptide for Bax inhibitor peptides V5 and P5 (Cat. Nos. 1785 and 1786) 1315378-74-5
HA14-1 Bcl-2 inhibitor. Induces apoptosis 65673-63-4
SMBA 1 High affinity and selective activator of Bax 906440-37-7

(9) ApexBio Compounds for BCL2L1 Gene

Compound Action Cas Number
ABT-263 (Navitoclax) Potent Bcl-2 family inhibitor, inhibits Bcl-2, Bcl-xL, and Bcl-w 923564-51-6
ABT-737 Bcl-2 inhibitor 852808-04-9
AT-101 BH3-mimetic,gossypol enantiomer 90141-22-3
Bax inhibitor peptide P5 Bax inhibitor 579492-83-4
Bax inhibitor peptide V5 Bax inhibitor 579492-81-2
Gossypol PAF inhibitor;anti-fertility and anti-cancer 303-45-7
Lomustine Antineoplastic drug 13010-47-4
Mitomycin C Inhibits DNA synthesis,antibiotic and antitumor agent 1950-07-7
TW-37 Bcl-2 inhibitor, inhibits Bcl-2,Bcl-XL and Mcl-1 877877-35-5
genes like me logo Genes that share compounds with BCL2L1: view

Transcripts for BCL2L1 Gene

Unigene Clusters for BCL2L1 Gene

BCL2-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: -
SP5: -
SP6: -
SP7: - - -
SP8: -

Relevant External Links for BCL2L1 Gene

GeneLoc Exon Structure for
BCL2L1
ECgene alternative splicing isoforms for
BCL2L1

Expression for BCL2L1 Gene

mRNA expression in normal human tissues for BCL2L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BCL2L1 Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for BCL2L1 Gene

This gene is overexpressed in Breast (23.3), Bone (11.0), and Bone marrow stromal cell (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCL2L1 Gene



SOURCE GeneReport for Unigene cluster for BCL2L1 Gene Hs.516966

mRNA Expression by UniProt/SwissProt for BCL2L1 Gene

Q07817-B2CL1_HUMAN
Tissue specificity: Bcl-X(S) is expressed at high levels in cells that undergo a high rate of turnover, such as developing lymphocytes. In contrast, Bcl-X(L) is found in tissues containing long-lived postmitotic cells, such as adult brain.
genes like me logo Genes that share expression patterns with BCL2L1: view

Primer Products

No data available for Protein tissue co-expression partners for BCL2L1 Gene

Orthologs for BCL2L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL2L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BCL2L1 35
  • 94.99 (n)
  • 97.85 (a)
BCL2L1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCL2L1 35
  • 96.57 (n)
  • 100 (a)
BCL-XL 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcl2l1 35
  • 93.56 (n)
  • 97.85 (a)
Bcl2l1 16
Bcl2l1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BCL2L1 35
  • 99.86 (n)
  • 100 (a)
BCL2L1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl2l1 35
  • 93.85 (n)
  • 97.85 (a)
oppossum
(Monodelphis domestica)
Mammalia BCL2L1 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCL2L1 35
  • 75.55 (n)
  • 74.67 (a)
BCL2L1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL2L1 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia bcl-XL 35
zebrafish
(Danio rerio)
Actinopterygii bcl2l 35
bcl2l1 35
  • 60.09 (n)
  • 56.95 (a)
bcl2l1 36
  • 50 (a)
OneToOne
Species with no ortholog for BCL2L1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BCL2L1 Gene

ENSEMBL:
Gene Tree for BCL2L1 (if available)
TreeFam:
Gene Tree for BCL2L1 (if available)

Paralogs for BCL2L1 Gene

Paralogs for BCL2L1 Gene

(5) SIMAP similar genes for BCL2L1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with BCL2L1: view

Variants for BCL2L1 Gene

Sequence variations from dbSNP and Humsavar for BCL2L1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs10861 -- 31,665,797(-) TGCAG(C/T)TAGTT nc-transcript-variant, utr-variant-3-prime
rs1484994 -- 31,718,172(-) CTGTC(C/T)TGTCC intron-variant
rs3787364 -- 31,666,505(+) AGCCT(A/G)GAGTT intron-variant
rs2376991 -- 31,669,432(+) TGTTG(G/T)GATGT intron-variant
rs3181073 -- 31,719,396(-) CTACT(G/T)TGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCL2L1 Gene

Variant ID Type Subtype PubMed ID
nsv458961 CNV Gain 19166990
esv2444548 CNV Insertion 19546169

Variation tolerance for BCL2L1 Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.67% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for BCL2L1 Gene

Disorders for BCL2L1 Gene

MalaCards: The human disease database

(31) MalaCards diseases for BCL2L1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lung cancer
  • lung cancer, protection against
colorectal cancer
  • colorectal cancer, somatic
pancreatic cancer
  • pancreatic carcinoma, somatic
myeloid leukemia
  • leukemia myelogenous
follicular lymphoma
  • lymphoma, follicular
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BCL2L1

Genetic Association Database (GAD)
BCL2L1
Human Genome Epidemiology (HuGE) Navigator
BCL2L1
Tumor Gene Database (TGDB):
BCL2L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCL2L1
genes like me logo Genes that share disorders with BCL2L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCL2L1 Gene

Publications for BCL2L1 Gene

  1. bcl-x, a bcl-2-related gene that functions as a dominant regulator of apoptotic cell death. (PMID: 8358789) Boise L.H. … Thompson C.B. (Cell 1993) 2 3 4 67
  2. Pigment epithelium-derived factor inhibits lysosomal degradation of Bcl-xL and apoptosis in HepG2 cells. (PMID: 19948828) Kawaguchi T. … Sata M. (Am. J. Pathol. 2010) 3 23
  3. The anti-apoptotic protein BCL2L1/Bcl-xL is neutralized by pro-apoptotic PMAIP1/Noxa in neuroblastoma, thereby determining bortezomib sensitivity independent of prosurvival MCL1 expression. (PMID: 20051518) Hagenbuchner J. … Obexer P. (J. Biol. Chem. 2010) 3 23
  4. Differential dependence on Beclin 1 for the regulation of pro-survival autophagy by Bcl-2 and Bcl-xL in HCT116 colorectal cancer cells. (PMID: 20090905) Priault M. … Vallette F.M. (PLoS ONE 2010) 3 23
  5. Synchronised phosphorylation of BNIP3, Bcl-2 and Bcl-xL in response to microtubule-active drugs is JNK-independent and requires a mitotic kinase. (PMID: 20100468) Mellor H.R. … Harris A.L. (Biochem. Pharmacol. 2010) 3 23

Products for BCL2L1 Gene

Sources for BCL2L1 Gene

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