BCL2L1 BCL2 like 1 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:992
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: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (31664452..31723963, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (33388711..33448575, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (30252255..30311766, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Assessment of Bcl-xL, TAX, and HBZ Gene Expression in Adult T cell Leukemia/Lymphoma Patients.
Title: Assessment of Bcl-xL, TAX, and HBZ Gene Expression in Adult T cell Leukemia/Lymphoma Patients.
Genome-wide CRISPR screen reveals the synthetic lethality between BCL2L1 inhibition and radiotherapy.
Title: Genome-wide CRISPR screen reveals the synthetic lethality between BCL2L1 inhibition and radiotherapy.
PTEN hinders the formation of scars by regulating the levels of proteins in the extracellular matrix and promoting the apoptosis of dermal fibroblasts through Bcl-xL.
Title: PTEN hinders the formation of scars by regulating the levels of proteins in the extracellular matrix and promoting the apoptosis of dermal fibroblasts through Bcl-xL.
Modification of BCLX pre-mRNA splicing has antitumor efficacy alone or in combination with radiotherapy in human glioblastoma cells.
Title: Modification of BCLX pre-mRNA splicing has antitumor efficacy alone or in combination with radiotherapy in human glioblastoma cells.
ATP1A1/BCL2L1 predicts the response of myelomonocytic and monocytic acute myeloid leukemia to cardiac glycosides.
Title: ATP1A1/BCL2L1 predicts the response of myelomonocytic and monocytic acute myeloid leukemia to cardiac glycosides.
Bcl-xL mediates interferon-beta secretion by protease-activated receptor 2 deficiency through the mitochondrial permeability transition pore in colorectal cancer metastasis.
Title: Bcl-xL mediates interferon-beta secretion by protease-activated receptor 2 deficiency through the mitochondrial permeability transition pore in colorectal cancer metastasis.
Elucidating the interaction of C-terminal domain of Vaccinia-Related Kinase 2A (VRK2A) with B-cell lymphoma-extra Large (Bcl-xL) to decipher its anti-apoptotic role in cancer.
Title: Elucidating the interaction of C-terminal domain of Vaccinia-Related Kinase 2A (VRK2A) with B-cell lymphoma-extra Large (Bcl-xL) to decipher its anti-apoptotic role in cancer.
GABA regulates the proliferation and apoptosis of head and neck squamous cell carcinoma cells by promoting the expression of CCND2 and BCL2L1.
Title: GABA regulates the proliferation and apoptosis of head and neck squamous cell carcinoma cells by promoting the expression of CCND2 and BCL2L1.
Alternative splicing of BCL-x is controlled by RBM25 binding to a G-quadruplex in BCL-x pre-mRNA.
Title: Alternative splicing of BCL-x is controlled by RBM25 binding to a G-quadruplex in BCL-x pre-mRNA.
Analysis of anti-apoptotic protein (Bcl-xl) levels and mRNA expression in infertile patients.
Title: Analysis of anti-apoptotic protein (Bcl-xl) levels and mRNA expression in infertile patients.

Submit: New GeneRIF Correction See all GeneRIFs (525)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BCL2L1 (e-PCR)
- UniSTS:505873

PMC156147P6 (e-PCR)
- UniSTS:271383

PMC84055P1 (e-PCR)
- UniSTS:273437

PMC84055P2 (e-PCR)
- UniSTS:273438

BCL2L1_1568 (e-PCR)
- UniSTS:277026

PMC20354P5 (e-PCR)
- UniSTS:271938

PMC300830P1 (e-PCR)
- UniSTS:272474

PMC316415P1 (e-PCR)
- UniSTS:272987

Bcl2l (e-PCR), detects polymorphism
- UniSTS:141168

RH25072 (e-PCR)
- UniSTS:90736

PMC196230P1 (e-PCR)
- UniSTS:271802

PMC262691P2 (e-PCR)
- UniSTS:272324

PMC92563P1 (e-PCR)
- UniSTS:273619

PMC92563P2 (e-PCR)
- UniSTS:273620

PMC92563P3 (e-PCR)
- UniSTS:273621

Z94537 (e-PCR)
- UniSTS:14580

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BH domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables BH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic mitochondrial changes	TAS Traceable Author Statement more info	PubMed
involved_in apoptotic process in bone marrow cell	IEA Inferred from Electronic Annotation more info
involved_in cellular response to alkaloid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to gamma radiation	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in dendritic cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in dendritic cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in ectopic germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
involved_in fertilization	IEA Inferred from Electronic Annotation more info
involved_in germ cell development	IEA Inferred from Electronic Annotation more info
involved_in hepatocyte apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of dendritic cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of developmental process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of execution phase of apoptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of release of cytochrome c from mitochondria	IC Inferred by Curator more info	PubMed
involved_in negative regulation of reproductive process	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mononuclear cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of growth	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitochondrial membrane permeability	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cycloheximide	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to cytokine	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Bcl-2 family protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: bcl-2-like protein 1

Names: apoptosis regulator Bcl-X; protein phosphatase 1, regulatory subunit 52

NCBI Reference Sequences (RefSeq)

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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

NG_029002.1 RefSeqGene

Range

4986..63396

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001191.4 → NP_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/TrEMBL

Q5TE63

Related

ENSP00000365223.4, ENST00000376055.9

Conserved Domains (1) summary

TIGR00865
Location:1 → 170

bcl-2; apoptosis regulator
NM_001317919.2 → NP_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

E1P5L6, Q07817, Q5CZ89, Q5TE65, Q92976

UniProtKB/TrEMBL

A0A0S2Z3C5, Q9H1R6

Related

ENSP00000503725.1, ENST00000676582.1

Conserved Domains (1) summary

TIGR00865
Location:1 → 233

bcl-2; apoptosis regulator
NM_001317920.2 → NP_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

E1P5L6, Q07817, Q5CZ89, Q5TE65, Q92976

UniProtKB/TrEMBL

A0A0S2Z3C5, Q9H1R6

Related

ENSP00000389688.2, ENST00000439267.2

Conserved Domains (1) summary

TIGR00865
Location:1 → 233

bcl-2; apoptosis regulator
NM_001317921.2 → NP_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

E1P5L6, Q07817, Q5CZ89, Q5TE65, Q92976

UniProtKB/TrEMBL

A0A0S2Z3C5, Q9H1R6

Related

ENSP00000504237.1, ENST00000678563.1

Conserved Domains (1) summary

TIGR00865
Location:1 → 233

bcl-2; apoptosis regulator
NM_001322239.2 → NP_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

E1P5L6, Q07817, Q5CZ89, Q5TE65, Q92976

UniProtKB/TrEMBL

A0A0S2Z3C5, Q9H1R6

Related

ENSP00000390760.2, ENST00000420488.6

Conserved Domains (1) summary

TIGR00865
Location:1 → 233

bcl-2; apoptosis regulator
NM_001322240.2 → NP_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

E1P5L6, Q07817, Q5CZ89, Q5TE65, Q92976

UniProtKB/TrEMBL

A0A0S2Z3C5, Q9H1R6

Related

ENSP00000395545.2, ENST00000456404.6

Conserved Domains (1) summary

TIGR00865
Location:1 → 233

bcl-2; apoptosis regulator
NM_001322242.2 → NP_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

E1P5L6, Q07817, Q5CZ89, Q5TE65, Q92976

UniProtKB/TrEMBL

A0A0S2Z3C5, Q9H1R6

Related

ENSP00000365230.2, ENST00000376062.6

Conserved Domains (1) summary

TIGR00865
Location:1 → 233

bcl-2; apoptosis regulator
NM_001424331.1 → NP_001411260.1 bcl-2-like protein 1 isoform Bcl-X(L)

Status: REVIEWED

Source sequence(s)

AL117381, AL160175

UniProtKB/Swiss-Prot

E1P5L6, Q07817, Q5CZ89, Q5TE65, Q92976

UniProtKB/TrEMBL

A0A0S2Z3C5

Related

ENSP00000504387.1, ENST00000677194.1
NM_001424332.1 → NP_001411261.1 bcl-2-like protein 1 isoform Bcl-X(L)

Status: REVIEWED

Source sequence(s)

AL117381, AL160175

UniProtKB/Swiss-Prot

E1P5L6, Q07817, Q5CZ89, Q5TE65, Q92976

UniProtKB/TrEMBL

A0A0S2Z3C5

Related

ENSP00000401173.2, ENST00000434194.2
NM_138578.3 → NP_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

E1P5L6, Q07817, Q5CZ89, Q5TE65, Q92976

UniProtKB/TrEMBL

A0A0S2Z3C5, Q9H1R6

Related

ENSP00000302564.4, ENST00000307677.5

Conserved Domains (1) summary

TIGR00865
Location:1 → 233

bcl-2; apoptosis regulator

RNA

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