BCL2L1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
BCL2L1
Official Name
BCL2 like 1 [Source:HGNC Symbol;Acc:HGNC:992]
Ensembl ID
ENSG00000171552
Bio databases IDs NCBI: 598 Ensembl: ENSG00000171552
Aliases BCL2 like 1, protein phosphatase 1, regulatory subunit 52
Synonyms bBclxl, BCL2L, BCL2-like 1, BCLX, Bcl-X beta, Bclx gamma, BCL-XL/S, Bcl-X β, Bclx γ, PPP1R52
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BCL2L1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • apoptosis regulator
  • Bcl-2_like
  • protein kinase binding
  • caspase inhibitor activity
  • enzyme binding
  • clathrin binding
  • PP1 binding domain
  • protein domain specific binding
  • Bcl-xL binding domain
  • protein binding
  • identical protein binding
  • phosphorylation site
  • pocket domain
  • Bcl-2 homology region 4
  • BH3 binding domain
  • binding protein
  • C-terminal transmembrane domain
  • Bcl-2 homology 1 domain
  • Bcl-2 homology 2 domain
  • Bcl-2 homology 3 domain
  • membrane attachment signal
  • transmembrane domain
  • tail domain
  • loop domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hepatocellular carcinoma
  • epithelial cancer
  • cancer
  • neoplasia
  • ovarian cancer
  • thrombocytosis
  • lymphomagenesis
  • hematologic cancer
  • lymphoid cancer
  • hematological neoplasia
regulated by
regulates
role in cell
  • cell death
  • expression in
  • apoptosis
  • binding
  • replication in
  • degradation in
  • proliferation
  • survival
  • accumulation in
  • molecular cleavage in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • nuclear fraction
  • soluble fraction
  • membrane fraction
  • mitochondrial fraction
  • synaptic vesicle membrane
  • presynaptic regions
  • cell surface
  • cell periphery
  • intracellular space
  • outer membranes
  • cellular membrane
  • Nucleus
  • Plasma Membrane
  • vesicles
  • centrosome
  • Endoplasmic Reticulum
  • Mitochondria
  • cytosol
  • outer leaflet
  • perinucleolar rings
  • mitochondrial membrane
  • mitochondria-associated membranes
  • mitochondrial outer membrane
  • nuclear foci
  • nuclear envelope
  • synaptic vesicles
  • photoreceptor inner segments
  • clathrin-coated pits
  • perikaryon
  • axons
  • exosomes
  • cytoplasmic fraction
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BCL2L1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to cytokine stimulus
  • apoptotic process in bone marrow
  • male gonad development
  • response to cycloheximide
  • negative regulation of developmental process
  • extrinsic apoptotic signaling pathway in absence of ligand
  • negative regulation of execution phase of apoptosis
  • negative regulation of neuron apoptotic process
  • positive regulation of mononuclear cell proliferation
  • cellular response to amino acid stimulus
  • apoptotic mitochondrial changes
  • epithelial cell proliferation
  • dendritic cell apoptotic process
  • in utero embryonic development
  • regulation of mitochondrial membrane potential
  • regulation of cytokinesis
  • defense response to virus
  • cellular response to alkaloid
  • activation of cysteine-type endopeptidase activity involved in apoptotic process
  • negative regulation of intrinsic apoptotic signaling pathway
  • neuron apoptotic process
  • germ cell development
  • negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
  • germ cell programmed cell death
  • negative regulation of release of cytochrome c from mitochondria
  • spermatogenesis
  • fertilization
  • DNA damage response, signal transduction resulting in induction of apoptosis
  • dendritic cell proliferation
  • endocytosis
  • regulation of mitochondrial membrane permeability
  • regulation of growth
  • ovarian follicle development
  • hepatocyte apoptotic process
  • cellular response to gamma radiation
  • negative regulation of dendritic cell apoptotic process
  • negative regulation of apoptotic process
  • release of cytochrome c from mitochondria
  • negative regulation of reproductive process

Cellular Component

Where in the cell the gene product is active
  • nuclear membrane
  • centrosome
  • mitochondrial matrix
  • Bcl-2 family protein complex
  • cytoplasm
  • mitochondrion
  • cytosol
  • endoplasmic reticulum
  • synaptic vesicle membrane
  • mitochondrial outer membrane
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • BH domain binding
  • BH3 domain binding
  • protein kinase binding
  • identical protein binding
  • protein binding

Gene-Specific Assays for Results You Can Trust

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