BCL2L1
Bcl-2-like protein 1
Also known as: B2CL1_HUMAN, Bcl-X, bcl-xL, bcl-xS, BCL2L, BCLX, PPP1R52
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q07817
- Gene
- BCL2L1
- Ensembl
- ENSG00000171552
- Chromosome
- 20
- Canonical length
- 233 aa
- Protein class
- Cancer-related genes, Predicted membrane proteins, RAS pathway related proteins, Transporters
- Subcellular location
- Nucleoli fibrillar center,Mitochondria,Acrosome
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
233 residues, UniProt reviewed canonical sequence.
>Q07817|BCL2L1
1 MSQSNRELVV DFLSYKLSQK GYSWSQFSDV EENRTEAPEG TESEMETPSA INGNPSWHLA
61 DSPAVNGATG HSSSLDAREV IPMAAVKQAL REAGDEFELR YRRAFSDLTS QLHITPGTAY
121 QSFEQVVNEL FRDGVNWGRI VAFFSFGGAL CVESVDKEMQ VLVSRIAAWM ATYLNDHLEP
181 WIQENGGWDT FVELYGNNAA AESRKGQERF NRWFLTGMTV AGVVLLGSLF SRKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BCL2L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 108 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 108 nTPM
- thymus: 104 nTPM
- bone marrow: 93 nTPM
- blood vessel: 89 nTPM
- lung: 81 nTPM
- kidney: 80 nTPM
Single-cell type
- platelets: 420 nCPM
- esophageal apical cells: 415 nCPM
- alveolar cells type 1: 389 nCPM
- choroid plexus epithelial cells: 336 nCPM
- distal convoluted tubule cells: 295 nCPM
- endometrial glandular cells: 283 nCPM
Immune cell
- gdT-cell: 40 nTPM
- MAIT T-cell: 31 nTPM
- basophil: 29 nTPM
- total PBMC: 28 nTPM
- memory CD8 T-cell: 27 nTPM
- eosinophil: 26 nTPM
Brain region
- choroid plexus: 159 nTPM
- white matter: 93 nTPM
- thalamus: 89 nTPM
- basal ganglia: 83 nTPM
- pons: 79 nTPM
- midbrain: 76 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BCL2L1.
Disease | ImmuneIEDB
Conditions an epitope on BCL2L1 was assayed in.
- skin melanoma T cell
- melanoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.34
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 1.62
- DepMap mean gene effect
- -1.06
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic mitochondrial changes
- cellular response to alkaloid
- cellular response to amino acid stimulus
- cellular response to gamma radiation
- defense response to virus
- dendritic cell apoptotic process
- dendritic cell proliferation
- ectopic germ cell programmed cell death
- endocytosis
- epithelial cell proliferation
- extrinsic apoptotic signaling pathway in absence of ligand
- fertilization
- germ cell development
- hepatocyte apoptotic process
- in utero embryonic development
- intrinsic apoptotic signaling pathway in response to DNA damage
- male gonad development
- negative regulation of anoikis
- negative regulation of apoptotic process
- negative regulation of autophagy
- negative regulation of dendritic cell apoptotic process
- negative regulation of developmental process
- negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
- negative regulation of execution phase of apoptosis
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
- negative regulation of intrinsic apoptotic signaling pathway
- negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
- negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
- negative regulation of neuron apoptotic process
- negative regulation of protein localization to plasma membrane
- negative regulation of release of cytochrome c from mitochondria
- negative regulation of reproductive process
- neuron apoptotic process
- ovarian follicle development
- positive regulation of apoptotic process
- positive regulation of mononuclear cell proliferation
- regulation of cytokinesis
- regulation of growth
- regulation of mitochondrial membrane permeability
- regulation of mitochondrial membrane potential
- release of cytochrome c from mitochondria
- response to cycloheximide
- response to cytokine
- spermatogenesis
- apoptotic process in bone marrow cell
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Bcl2-like
- Apoptosis regulator, Bcl-2 protein, BH4
- Apoptosis regulator, Bcl-2/ BclX
- Apoptosis regulator, Bcl-2, BH1 motif, conserved site
- Apoptosis regulator, Bcl-2, BH2 motif, conserved site
- Apoptosis regulator, Bcl-2, BH3 motif, conserved site
- Apoptosis regulator, Bcl-2, BH4 motif, conserved site
- Bcl-2 family
- Bcl-2-like superfamily
- Bcl-2, Bcl-2 homology region 1-3
- Apoptosis regulator proteins, Bcl-2 family
- Bcl-2 homology region 4
- Apoptosis regulator, Bcl-X
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BCL2L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BCL2L1 as an antibody target. Whether an autoantibody or antibody against BCL2L1 could matter depends on whether native BCL2L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BCL2L1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BCL2L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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