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Aliases for BCL2L1 Gene

Aliases for BCL2L1 Gene

  • BCL2-Like 1 2 3
  • BCLX 3 4 6
  • Apoptosis Regulator Bcl-X 3 4
  • BCLXL 3 6
  • BCLXS 3 6
  • BCL2L 3 4
  • Protein Phosphatase 1, Regulatory Subunit 52 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 52 2
  • Bcl-2-Like Protein 1 3
  • BCL-XL/S 3
  • Bcl2-L-1 4
  • PPP1R52 3
  • Bcl-XL 3
  • Bcl-XS 3
  • Bcl-X 3

External Ids for BCL2L1 Gene

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. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. [provided by RefSeq, Jul 2008]

GeneCards Summary for BCL2L1 Gene

BCL2L1 (BCL2-Like 1) is a Protein Coding gene. Diseases associated with BCL2L1 include colorectal cancer and myeloma. Among its related pathways are PI3K-Akt signaling pathway and Ras signaling pathway. GO annotations related to this gene include identical protein binding and protein kinase binding. 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

  • Isoform Bcl-X(S) promotes apoptosis

Tocris Summary for BCL2L1 Gene

  • Bcl-2 family proteins regulate and contribute to programmed cell death or apoptosis. It is a large protein family and all members contain at least one of four BH (bcl-2 homology) domains. Certain members such as Bcl-2, Bcl-xl and Mcl1 are anti-apoptotic, whilst others are pro-apoptotic. The pro-apoptotic group of Bcl-2 proteins can be further sub-divided into the structurally diverse BH3 only proteins (e.g. Bid, Noxa, Puma and Bad) and the multidomain proteins that share BH1 to 3 (e.g. Bax and Bak). Most Bcl-2 family members contain a C-terminal transmembrane domain that functions to target these proteins to the outer mitochondrial and other intracellular membranes.

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

Genomic Location for BCL2L1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BCL2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL2L1 Gene

Regulatory Elements 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.

    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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys16 and Lys87

Other Protein References for BCL2L1 Gene

No data available for DME Specific Peptides for BCL2L1 Gene

Domains for BCL2L1 Gene

Gene Families for BCL2L1 Gene

HGNC:
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

UniProtKB/Swiss-Prot:

B2CL1_HUMAN
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:
    • Q07817
Family:
  • Belongs to the Bcl-2 family.:
    • Q07817
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
UniProtKB/Swiss-Prot Function: Isoform Bcl-X(S) promotes apoptosis

Gene Ontology (GO) - Molecular Function for BCL2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10837489
GO:0019901 protein kinase binding IPI 21840391
GO:0042802 identical protein binding IPI 15131699
GO:0042803 protein homodimerization activity IBA --
GO:0046982 protein heterodimerization activity IBA --
genes like me logo Genes that share ontologies with BCL2L1: view
genes like me logo Genes that share phenotypes with BCL2L1: view

Animal Models for BCL2L1 Gene

MGI Knock Outs for BCL2L1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
mitochondrion 5
nucleus 5
cytosol 3
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 --
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA 20673843
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with BCL2L1: view

Pathways for BCL2L1 Gene

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

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 IDA 9843949
GO:0006897 endocytosis IEA --
genes like me logo Genes that share ontologies with BCL2L1: view

Compounds for BCL2L1 Gene

(19) ApexBio Compounds for BCL2L1 Gene

Compound Action Cas Number
2,3-DCPE hydrochloride Selectively induces apoptosis and downregulates Bcl-XL protein expression in various human cancer cells versus normal cells in vitro. [418788-90-6]
ABT-199 Selective Bcl-2 inhibitor [1257044-40-8]
ABT-263 (Navitoclax) orally sellecitive inhibitor of Bcl-2 family proteins [923564-51-6]
ABT-737 novel and potent inhibitor of BCL-2 family proteins [852808-04-9]
Apogossypolone (ApoG2) pan Bcl-2 inhibitor [886578-07-0]
AT-101 R-(-) enantiomer of Gossypol acetic acid, binds with Bcl-2, Bcl-xL and Mcl-1 [90141-22-3]
Bax channel blocker Potent inhibitor of Bax-mediated mitochondrial cytochrome c release. [335165-68-9]
Bax inhibitor peptide P5 Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria [579492-83-4]
Bax inhibitor peptide V5 Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria [579492-81-2]
Bax inhibitor peptide, negative control Negative control peptide for the Bax inhibitor peptides V5 and P5 [1315378-74-5]
BM-1074 potent and efficacious Bcl-2/Bcl-xL inhibitor [1391108-10-3]
Gambogic Acid activates caspases with EC50 of 0.78-1.64 uM and competitively inhibits Bcl-XL, Bcl-2, Bcl-W, Bcl-B, Bfl-1 and Mcl-1 [2752-65-0]
HA14-1 non-peptidic ligand of a Bcl-2 [65673-63-4]
Marinopyrrole A novel and specific Mcl-1 inhibitor [1227962-62-0]
MIM1 Inhibitor of Mcl-1
Obatoclax mesylate (GX15-070) potently inhibits BCL-2 family [803712-79-0]
Sabutoclax pan-Bcl-2 inhibitor [1228108-65-3]
TW-37 potent small-molecule inhibitor of BCL-2 [877877-35-5]
WEHI-539 high affinity (subnanomolar) and selectivity for BCL-XL [1431866-33-9]

(5) Tocris Compounds for BCL2L1 Gene

Compound Action Cas Number
AT 101 Downregulates Bcl-2 and Mcl-1; pro-apoptotic [90141-22-3]
Bax channel blocker Inhibits Bax-mediated mitochondrial cytochrome c release [335165-68-9]
Bax inhibitor peptide V5 Inhibitor of Bax-mediated apoptosis [579492-81-2]
HA14-1 Bcl-2 inhibitor. Induces apoptosis [65673-63-4]
MIM1 Mcl-1 inhibitor; proapoptotic

(1) Drugbank Compounds for BCL2L1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
4'-FLUORO-1,1'-BIPHENYL-4-CARBOXYLIC ACID
target

(148) Novoseek inferred chemical compound relationships for BCL2L1 Gene

Compound -log(P) Hits PubMed IDs
noxa 74.7 20
adpribose 64.6 12
etoposide 64.5 29
gossypol 61.7 21
sp 600125 60.8 2
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 (6.1).

Integrated Proteomics: protein expression 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 expressions with BCL2L1: view

Orthologs for BCL2L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL2L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCL2L1 36
  • 99.86 (n)
  • 100 (a)
BCL2L1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCL2L1 36
  • 94.99 (n)
  • 97.85 (a)
BCL2L1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCL-XL 37
  • 100 (a)
OneToOne
BCL2L1 36
  • 96.57 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Bcl2l1 36
  • 93.56 (n)
  • 97.85 (a)
Bcl2l1 16
Bcl2l1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCL2L1 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl2l1 36
  • 93.85 (n)
  • 97.85 (a)
chicken
(Gallus gallus)
Aves BCL2L1 36
  • 75.55 (n)
  • 74.67 (a)
BCL2L1 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL2L1 37
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia bcl-XL 36
zebrafish
(Danio rerio)
Actinopterygii bcl2l 36
bcl2l1 36
  • 60.09 (n)
  • 56.95 (a)
bcl2l1 37
  • 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

Selected 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 MAF
rs10861 -- 31,665,797(-) TGCAG(C/T)TAGTT utr-variant-3-prime
rs366001 -- 31,683,549(-) tcagg(G/T)gatcc intron-variant
rs385394 -- 31,683,637(-) ggccc(C/G)ccacc intron-variant
rs391281 -- 31,697,044(-) agata(A/G)agtct intron-variant
rs393946 -- 31,683,664(-) aacct(C/T)ttgag 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

Relevant External Links for BCL2L1 Gene

HapMap Linkage Disequilibrium report
BCL2L1

Disorders for BCL2L1 Gene

(93) Novoseek inferred disease relationships for BCL2L1 Gene

Disease -log(P) Hits PubMed IDs
tumors 69 156
cancer 65.1 114
leukemia 60 35
necrosis 56.8 39
colon cancer 54.6 29

Relevant External Links for BCL2L1

Genetic Association Database (GAD)
BCL2L1
Human Genome Epidemiology (HuGE) Navigator
BCL2L1
Tumor Gene Database (TGDB):
BCL2L1
genes like me logo Genes that share disorders with BCL2L1: view

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

Publications for BCL2L1 Gene

  1. Bax-independent inhibition of apoptosis by Bcl-XL. (PMID: 8596636) Cheng E.H.-Y. … Korsmeyer S.J. (Nature 1996) 3 4 23
  2. Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis. (PMID: 12161031) Kuhlmann T. … BrA1ck W. (J. Neuroimmunol. 2002) 3 23 49
  3. 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
  4. X-ray and NMR structure of human Bcl-xL, an inhibitor of programmed cell death. (PMID: 8692274) Muchmore S.W. … Fesik S.W. (Nature 1996) 3 4
  5. Multiple Bcl-2 family members demonstrate selective dimerizations with Bax. (PMID: 7644501) Sedlak T.W. … Korsmeyer S.J. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4

Products for BCL2L1 Gene

Sources for BCL2L1 Gene

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