Human Gene BCL2L1 (uc002wwm.3)
Description: Homo sapiens BCL2-like 1 (BCL2L1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
RefSeq Summary (NM_001191): 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].
Transcript (Including UTRs)
Position: hg19 chr20:30,252,261-30,310,656 Size: 58,396 Total Exon Count: 3 Strand: -
Coding Region
Position: hg19 chr20:30,253,752-30,310,021 Size: 56,270 Coding Exon Count: 2
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): BCL2L1
CDC HuGE Published Literature: BCL2L1
MalaCards Disease Associations
MalaCards Gene Search: BCL2L1
Diseases sorted by gene-association score: lung cancer (8), hepatocellular carcinoma (7), pancreatic cancer (7), colorectal cancer (7), myeloid leukemia (5), b-cell lymphomas (5), follicular lymphoma (5), hepatoblastoma (4), malignant glioma (4), ovarian cancer, somatic (3), multiple myeloma (3), her2-receptor negative breast cancer (3), essential thrombocythemia (3), prostate cancer (3), adult t-cell leukemia (3), nasopharyngeal carcinoma (3), mantle cell lymphoma (3), chronic lymphocytic leukemia (3), squamous cell carcinoma, head and neck (2), alk-negative anaplastic large cell lymphoma (2), leukemia, chronic myeloid, somatic (2), nutmeg liver (2), lymphoma, non-hodgkin (2), medulloblastoma (2), esophageal cancer (2), breast cancer (2), lung cancer susceptibility 3 (2), apical myocardial infarction (1), myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (1), gastrointestinal system cancer (1), lymphoproliferative syndrome 2 (1), valproate embryopathy, susceptibility to (1), carbuncle (1), leukemia, acute myeloid (1)
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR013279 - Apop_reg_BclX
IPR002475 - Bcl2-like
IPR020728 - Bcl2_BH3_motif_CS
IPR003093 - Bcl2_BH4
IPR020731 - Bcl2_BH4_motif_CS
IPR026298 - Blc2_fam
Pfam Domains: PF02180 - Bcl-2 homology region 4
SCOP Domains: 56854 - Bcl-2 inhibitors of programmed cell death
ModBase Predicted Comparative 3D Structure on Q5TE63
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
KJ890762 - Synthetic construct Homo sapiens clone ccsbBroadEn_00156 BCL2L1 gene, encodes complete protein.BC019307 - Homo sapiens BCL2-like 1, mRNA (cDNA clone MGC:4204 IMAGE:2823498), complete cds.CR936637 - Homo sapiens mRNA; cDNA DKFZp781P2092 (from clone DKFZp781P2092).BX647525 - Homo sapiens mRNA; cDNA DKFZp686C01267 (from clone DKFZp686C01267).Z23115 - H.sapiens bcl-xL mRNA.Z23116 - H.sapiens bcl-xS mRNA.AK290968 - Homo sapiens cDNA FLJ77105 complete cds, highly similar to Homo sapiens BCL2-like 1 (BCL2L1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.BT007208 - Homo sapiens BCL2-like 1 mRNA, complete cds.DQ893461 - Synthetic construct clone IMAGE:100006091; FLH193174.01X; RZPDo839D0678D BCL2-like 1 (BCL2L1) gene, encodes complete protein.DQ896311 - Synthetic construct Homo sapiens clone IMAGE:100010771; FLH193170.01L; RZPDo839D0668D BCL2-like 1 (BCL2L1) gene, encodes complete protein.AB464466 - Synthetic construct DNA, clone: pF1KB8901, Homo sapiens BCL2L1 gene for BCL2-like 1, without stop codon, in Flexi system.KU177938 - Homo sapiens BCL2-like 1 isoform 1 (BCL2L1) mRNA, partial cds.KU177939 - Homo sapiens BCL2-like 1 isoform 2 (BCL2L1) mRNA, partial cds.KU177940 - Homo sapiens BCL2-like 1 isoform 3 (BCL2L1) mRNA, complete cds, alternatively spliced.JD427771 - Sequence 408795 from Patent EP1572962.JD121633 - Sequence 102657 from Patent EP1572962.JD191453 - Sequence 172477 from Patent EP1572962.JD108288 - Sequence 89312 from Patent EP1572962.JD416124 - Sequence 397148 from Patent EP1572962.JD283860 - Sequence 264884 from Patent EP1572962.JD090658 - Sequence 71682 from Patent EP1572962.JD259880 - Sequence 240904 from Patent EP1572962.JD515159 - Sequence 496183 from Patent EP1572962.JD537450 - Sequence 518474 from Patent EP1572962.JD124198 - Sequence 105222 from Patent EP1572962.JD190849 - Sequence 171873 from Patent EP1572962.JD270710 - Sequence 251734 from Patent EP1572962.JD230384 - Sequence 211408 from Patent EP1572962.JD162385 - Sequence 143409 from Patent EP1572962.JD527886 - Sequence 508910 from Patent EP1572962.JD255228 - Sequence 236252 from Patent EP1572962.JD079886 - Sequence 60910 from Patent EP1572962.JD385044 - Sequence 366068 from Patent EP1572962.JD062724 - Sequence 43748 from Patent EP1572962.JD485992 - Sequence 467016 from Patent EP1572962.JD073925 - Sequence 54949 from Patent EP1572962.JD372564 - Sequence 353588 from Patent EP1572962.JD170539 - Sequence 151563 from Patent EP1572962.JD321579 - Sequence 302603 from Patent EP1572962.JD122093 - Sequence 103117 from Patent EP1572962.JD510151 - Sequence 491175 from Patent EP1572962.JD515401 - Sequence 496425 from Patent EP1572962.JD489378 - Sequence 470402 from Patent EP1572962.JD096176 - Sequence 77200 from Patent EP1572962.JD049542 - Sequence 30566 from Patent EP1572962.JD130213 - Sequence 111237 from Patent EP1572962.JD243812 - Sequence 224836 from Patent EP1572962.JD444700 - Sequence 425724 from Patent EP1572962.JD456429 - Sequence 437453 from Patent EP1572962.JD421755 - Sequence 402779 from Patent EP1572962.JD415691 - Sequence 396715 from Patent EP1572962.JD310680 - Sequence 291704 from Patent EP1572962.JD190287 - Sequence 171311 from Patent EP1572962.JD324935 - Sequence 305959 from Patent EP1572962.JD163420 - Sequence 144444 from Patent EP1572962.JD545275 - Sequence 526299 from Patent EP1572962.JD306575 - Sequence 287599 from Patent EP1572962.JD452820 - Sequence 433844 from Patent EP1572962.JD426322 - Sequence 407346 from Patent EP1572962.JD122483 - Sequence 103507 from Patent EP1572962.JD261210 - Sequence 242234 from Patent EP1572962.JD290379 - Sequence 271403 from Patent EP1572962.JD252072 - Sequence 233096 from Patent EP1572962.JD115876 - Sequence 96900 from Patent EP1572962.JD303040 - Sequence 284064 from Patent EP1572962.AY263337 - Homo sapiens BCL2L1 mRNA, partial cds, alternatively spliced.AY263336 - Homo sapiens BCL2L1 mRNA, partial cds, alternatively spliced.AY263335 - Homo sapiens BCL2L1 mRNA, partial cds, alternatively spliced.JD324579 - Sequence 305603 from Patent EP1572962.JD155716 - Sequence 136740 from Patent EP1572962.JD485702 - Sequence 466726 from Patent EP1572962.JD555291 - Sequence 536315 from Patent EP1572962.JD523305 - Sequence 504329 from Patent EP1572962.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: hCG_38811, NM_001191, NP_001182, Q5TE63, Q5TE63_HUMAN, RP5-857M17.3-002UCSC ID: uc002wwm.3RefSeq Accession: NM_001191
Protein: Q5TE63
CCDS: CCDS13188.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_001191.2
exon count:
3 CDS single in 3' UTR:
no
RNA size:
2386
ORF size:
513 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
1169.00 frame shift in genome:
no
% Coverage:
99.33
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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