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BCL2L1 BCL2 like 1 [ Homo sapiens (human) ]

Gene ID: 598, updated on 5-Jan-2020

Summary

Official Symbol
BCL2L1provided by HGNC
Official Full Name
BCL2 like 1provided by HGNC
Primary source
HGNC:HGNC:992
See related
Ensembl:ENSG00000171552 MIM:600039
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCLX; BCL2L; Bcl-X; PPP1R52; BCL-XL/S
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 33.2), kidney (RPKM 32.4) and 25 other tissues See more
Orthologs

Genomic context

See BCL2L1 in Genome Data Viewer
Location:
20q11.21
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (31664452..31723963, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30252261..30311752, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr20.846 Neighboring gene cytochrome c oxidase subunit 4I2 Neighboring gene VISTA enhancer hs2050 Neighboring gene BCL2L1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 251 Neighboring gene apoptotic BCL2L1-antisense long non-coding RNA Neighboring gene TPX2 microtubule nucleation factor Neighboring gene myosin light chain kinase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Treatment of monocyte-derived dendritic cells with HIV-1 gp120 downregulates the expression of the anti-apoptotic molecules BCL-2 and BCL-xL PubMed
env Treatment of cells with dsRNA against 14-3-3tau enhances gp120-mediated dephosphorylation of Bad and its association with Bcl-XL in mitochondria, and accelerates gp120-induced apoptosis PubMed
Envelope surface glycoprotein gp160, precursor env Treatment of CD4+ cells with HIV-1 gp160 causes intracellular calcium increase followed by the release of cytochrome c from mitochondria; association of BAD with Bcl-xL is observed, and a portion of BAD is dephosphorylated after gp160 induction PubMed
Nef nef HIV-1 Nef enhances apoptosis in CD4+ human lymphoblastoid cell lines through mechanisms that include the downregulation of the anti-apoptotic proteins Bcl-2 and Bcl-XL PubMed
nef HIV-1 Nef suppresses apoptosis of TF-1 macrophages by upregulating mitochondrial anti-apoptosis protein Bcl-XL expression; cell survival and Bcl-XL induction by Nef are dependent on the Erk/MAPK pathway, but independent of PI3K and Akt activation PubMed
Tat tat HIV-1 Tat upregulates several anti-apoptotic genes, including AKT-1, AKT-2, BCL2, BCL-XL, and insulin-like growth factor I in vincristine-treated Kaposi's sarcoma cells PubMed
Vpr vpr Bcl-xL and MCL-1 play a critical role in macrophage survival but not in resistance to HIV-1 Vpr-induced apoptosis PubMed
vpr HIV-1 Vpr induces downregulation of the Bcl-xl protein, upregulation of the Bax protein, and the cytochrome c release from the mitochondria in multidrug-resistant human colorectal cancer cells PubMed
vpr Expression of HIV-1 Vpr causes redistribution of Bcl-X protein into an organized, network-like manner to form filamentous structures PubMed
vpr HIV-1 Vpr downregulated Bcl-X expression in transgenic mice suggesting a role in Vpr mediated apoptosis of T lymphocytes PubMed
Vpu vpu Levels of Bcl-xL are reduced in T cells as a result of HIV-1 Vpu-mediated inhibition of NF-kappa B activation PubMed
nucleocapsid gag HIV-1 NC downregulates BCL2-like 1 in HEK 293T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781P2092

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic mitochondrial changes TAS
Traceable Author Statement
more info
PubMed 
apoptotic process in bone marrow IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cellular process regulating host cell cycle in response to virus IEA
Inferred from Electronic Annotation
more info
 
cellular response to alkaloid IEA
Inferred from Electronic Annotation
more info
 
cellular response to amino acid stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fertilization IEA
Inferred from Electronic Annotation
more info
 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
hepatocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
mitochondrion morphogenesis IEA
Inferred from Electronic Annotation
more info
 
mitotic cell cycle checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of execution phase of apoptosis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand TAS
Traceable Author Statement
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of release of cytochrome c from mitochondria IC
Inferred by Curator
more info
PubMed 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of intrinsic apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of growth IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial membrane permeability IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitochondrial membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
response to cycloheximide IEA
Inferred from Electronic Annotation
more info
 
response to cytokine IDA
Inferred from Direct Assay
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
suppression by virus of host apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Bcl-2 family protein complex IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
bcl-2-like protein 1
Names
apoptosis regulator Bcl-X
protein phosphatase 1, regulatory subunit 52

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029002.1 RefSeqGene

    Range
    4986..63396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001191.4NP_001182.1  bcl-2-like protein 1 isoform Bcl-X(S)

    See identical proteins and their annotated locations for NP_001182.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, in the central coding region, compared to variant 1. The encoded isoform (Bcl-X(S), also known as Bcl-xS) is shorter than isoform Bcl-X(L).
    Source sequence(s)
    AK290968, BC019307
    Consensus CDS
    CCDS13188.1
    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    Q5TE63
    Related
    ENSP00000365223.4, ENST00000376055.8
    Conserved Domains (1) summary
    TIGR00865
    Location:1170
    bcl-2; apoptosis regulator
  2. NM_001317919.2NP_001304848.1  bcl-2-like protein 1 isoform Bcl-X(L)

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, 4 and 5 encode the same isoform (Bcl-X(L), also known as Bcl-xL).
    Source sequence(s)
    AL160175, BC019307, CR936637
    Consensus CDS
    CCDS13189.1
    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    A0A0S2Z3C5
    Related
    ENSP00000411252.1, ENST00000422920.1
    Conserved Domains (1) summary
    TIGR00865
    Location:1233
    bcl-2; apoptosis regulator
  3. NM_001317920.2NP_001304849.1  bcl-2-like protein 1 isoform Bcl-X(L)

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3, 4 and 5 encode the same isoform (Bcl-X(L), also known as Bcl-xL).
    Source sequence(s)
    AA488236, AL160175, BC019307, BM554265, DR156871
    Consensus CDS
    CCDS13189.1
    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    A0A0S2Z3C5
    Conserved Domains (1) summary
    TIGR00865
    Location:1233
    bcl-2; apoptosis regulator
  4. NM_001317921.2NP_001304850.1  bcl-2-like protein 1 isoform Bcl-X(L)

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 3, 4 and 5 encode the same isoform (Bcl-X(L), also known as Bcl-xL).
    Source sequence(s)
    AA488236, AL160175, BC019307, BM554265, BX359456
    Consensus CDS
    CCDS13189.1
    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    A0A0S2Z3C5
    Related
    ENSP00000406203.1, ENST00000450273.1
    Conserved Domains (1) summary
    TIGR00865
    Location:1233
    bcl-2; apoptosis regulator
  5. NM_001322239.2NP_001309168.1  bcl-2-like protein 1 isoform Bcl-X(L)

    Status: REVIEWED

    Source sequence(s)
    AL160175, BC019307
    Consensus CDS
    CCDS13189.1
    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    A0A0S2Z3C5
    Related
    ENSP00000390760.1, ENST00000420488.5
    Conserved Domains (1) summary
    TIGR00865
    Location:1233
    bcl-2; apoptosis regulator
  6. NM_001322240.2NP_001309169.1  bcl-2-like protein 1 isoform Bcl-X(L)

    Status: REVIEWED

    Source sequence(s)
    AA488236, AL160175, BC019307
    Consensus CDS
    CCDS13189.1
    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    A0A0S2Z3C5
    Related
    ENSP00000395545.1, ENST00000456404.5
    Conserved Domains (1) summary
    TIGR00865
    Location:1233
    bcl-2; apoptosis regulator
  7. NM_001322242.2NP_001309171.1  bcl-2-like protein 1 isoform Bcl-X(L)

    Status: REVIEWED

    Source sequence(s)
    AL160175, BC019307
    Consensus CDS
    CCDS13189.1
    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    A0A0S2Z3C5
    Conserved Domains (1) summary
    TIGR00865
    Location:1233
    bcl-2; apoptosis regulator
  8. NM_138578.3NP_612815.1  bcl-2-like protein 1 isoform Bcl-X(L)

    See identical proteins and their annotated locations for NP_612815.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (Bcl-X(L), also known as Bcl-xL). Variants 1, 3, 4 and 5 encode the same isoform.
    Source sequence(s)
    BC019307, BU845775
    Consensus CDS
    CCDS13189.1
    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    A0A0S2Z3C5
    Related
    ENSP00000302564.4, ENST00000307677.5
    Conserved Domains (1) summary
    TIGR00865
    Location:1233
    bcl-2; apoptosis regulator

RNA

  1. NR_134257.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI872556, BC019307, CD359906

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    31664452..31723963 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528964.2XP_011527266.1  bcl-2-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011527266.1

    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    A0A0S2Z3C5
    Conserved Domains (1) summary
    TIGR00865
    Location:1233
    bcl-2; apoptosis regulator
  2. XM_017027993.1XP_016883482.1  bcl-2-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q07817
    UniProtKB/TrEMBL
    A0A0S2Z3C5
    Related
    ENSP00000365230.2, ENST00000376062.6
    Conserved Domains (1) summary
    TIGR00865
    Location:1233
    bcl-2; apoptosis regulator

RNA

  1. XR_001754364.2 RNA Sequence

  2. XR_936599.3 RNA Sequence

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