LOCUS       NM_138578               2574 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens BCL2 like 1 (BCL2L1), transcript variant 1, mRNA.
ACCESSION   NM_138578
VERSION     NM_138578.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2574)
  AUTHORS   Nguyen,T.T., Torrini,C., Shang,E., Shu,C., Mun,J.Y., Gao,Q.,
            Humala,N., Akman,H.O., Zhang,G., Westhoff,M.A., Karpel-Massler,G.,
            Bruce,J.N., Canoll,P. and Siegelin,M.D.
  TITLE     OGDH and Bcl-xL loss causes synthetic lethality in glioblastoma
  JOURNAL   JCI Insight 9 (8), e172565 (2024)
   PUBMED   38483541
  REMARK    GeneRIF: OGDH and Bcl-xL loss causes synthetic lethality in
            glioblastoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2574)
  AUTHORS   Li,S., Wang,Y., Chen,Y., Zhang,H., Shen,K. and Guan,H.
  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
  JOURNAL   Arch Biochem Biophys 753, 109912 (2024)
   PUBMED   38325773
  REMARK    GeneRIF: 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.
REFERENCE   3  (bases 1 to 2574)
  AUTHORS   Dou,Z., Lei,H., Su,W., Zhang,T., Chen,X., Yu,B., Zhen,X., Si,J.,
            Sun,C., Zhang,H. and Di,C.
  TITLE     Modification of BCLX pre-mRNA splicing has antitumor efficacy alone
            or in combination with radiotherapy in human glioblastoma cells
  JOURNAL   Cell Death Dis 15 (2), 160 (2024)
   PUBMED   38383492
  REMARK    GeneRIF: Modification of BCLX pre-mRNA splicing has antitumor
            efficacy alone or in combination with radiotherapy in human
            glioblastoma cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2574)
  AUTHORS   Yin,L., Hu,X., Pei,G., Tang,M., Zhou,Y., Zhang,H., Huang,M., Li,S.,
            Zhang,J., Citu,C., Zhao,Z., Debeb,B.G., Feng,X. and Chen,J.
  TITLE     Genome-wide CRISPR screen reveals the synthetic lethality between
            BCL2L1 inhibition and radiotherapy
  JOURNAL   Life Sci Alliance 7 (4), e202302353 (2024)
   PUBMED   38316463
  REMARK    GeneRIF: Genome-wide CRISPR screen reveals the synthetic lethality
            between BCL2L1 inhibition and radiotherapy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2574)
  AUTHORS   Ma,J., Liu,Y., Yuan,J., Ma,Y., Zhao,X., Chen,K., Zhang,X., Zhang,F.
            and Wang,H.
  TITLE     Bcl-xL mediates interferon-beta secretion by protease-activated
            receptor 2 deficiency through the mitochondrial permeability
            transition pore in colorectal cancer metastasis
  JOURNAL   Cancer Lett 580, 216483 (2024)
   PUBMED   37972702
  REMARK    GeneRIF: Bcl-xL mediates interferon-beta secretion by
            protease-activated receptor 2 deficiency through the mitochondrial
            permeability transition pore in colorectal cancer metastasis.
REFERENCE   6  (bases 1 to 2574)
  AUTHORS   Broome,H.E., Dargan,C.M., Krajewski,S. and Reed,J.C.
  TITLE     Expression of Bcl-2, Bcl-x, and Bax after T cell activation and
            IL-2 withdrawal
  JOURNAL   J Immunol 155 (5), 2311-2317 (1995)
   PUBMED   7650367
REFERENCE   7  (bases 1 to 2574)
  AUTHORS   Sedlak,T.W., Oltvai,Z.N., Yang,E., Wang,K., Boise,L.H.,
            Thompson,C.B. and Korsmeyer,S.J.
  TITLE     Multiple Bcl-2 family members demonstrate selective dimerizations
            with Bax
  JOURNAL   Proc Natl Acad Sci U S A 92 (17), 7834-7838 (1995)
   PUBMED   7644501
REFERENCE   8  (bases 1 to 2574)
  AUTHORS   Jaattela,M., Benedict,M., Tewari,M., Shayman,J.A. and Dixit,V.M.
  TITLE     Bcl-x and Bcl-2 inhibit TNF and Fas-induced apoptosis and
            activation of phospholipase A2 in breast carcinoma cells
  JOURNAL   Oncogene 10 (12), 2297-2305 (1995)
   PUBMED   7540278
REFERENCE   9  (bases 1 to 2574)
  AUTHORS   Yang,E., Zha,J., Jockel,J., Boise,L.H., Thompson,C.B. and
            Korsmeyer,S.J.
  TITLE     Bad, a heterodimeric partner for Bcl-XL and Bcl-2, displaces Bax
            and promotes cell death
  JOURNAL   Cell 80 (2), 285-291 (1995)
   PUBMED   7834748
REFERENCE   10 (bases 1 to 2574)
  AUTHORS   Boise,L.H., Gonzalez-Garcia,M., Postema,C.E., Ding,L., Lindsten,T.,
            Turka,L.A., Mao,X., Nunez,G. and Thompson,C.B.
  TITLE     bcl-x, a bcl-2-related gene that functions as a dominant regulator
            of apoptotic cell death
  JOURNAL   Cell 74 (4), 597-608 (1993)
   PUBMED   8358789
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU845775.1 and BC019307.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_138578.2.
            
            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].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.276060.1,
                                           SRR3476690.942208.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2152474
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000307677.5/
                                                  ENSP00000302564.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                BU845775.1         231-245
            16-2574             BC019307.1         1-2559
FEATURES             Location/Qualifiers
     source          1..2574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..2574
                     /gene="BCL2L1"
                     /gene_synonym="Bcl-X; BCL-XL/S; BCL2L; BCLX; PPP1R52"
                     /note="BCL2 like 1"
                     /db_xref="GeneID:598"
                     /db_xref="HGNC:HGNC:992"
                     /db_xref="MIM:600039"
     exon            1..251
                     /gene="BCL2L1"
                     /gene_synonym="Bcl-X; BCL-XL/S; BCL2L; BCLX; PPP1R52"
                     /inference="alignment:Splign:2.1.0"
     exon            252..945
                     /gene="BCL2L1"
                     /gene_synonym="Bcl-X; BCL-XL/S; BCL2L; BCLX; PPP1R52"
                     /inference="alignment:Splign:2.1.0"
     CDS             382..1083
                     /gene="BCL2L1"
                     /gene_synonym="Bcl-X; BCL-XL/S; BCL2L; BCLX; PPP1R52"
                     /note="isoform Bcl-X(L) is encoded by transcript variant
                     1; bcl-2-like protein 1; apoptosis regulator Bcl-X;
                     protein phosphatase 1, regulatory subunit 52"
                     /codon_start=1
                     /product="bcl-2-like protein 1 isoform Bcl-X(L)"
                     /protein_id="NP_612815.1"
                     /db_xref="CCDS:CCDS13189.1"
                     /db_xref="GeneID:598"
                     /db_xref="HGNC:HGNC:992"
                     /db_xref="MIM:600039"
                     /translation="MSQSNRELVVDFLSYKLSQKGYSWSQFSDVEENRTEAPEGTESE
                     METPSAINGNPSWHLADSPAVNGATGHSSSLDAREVIPMAAVKQALREAGDEFELRYR
                     RAFSDLTSQLHITPGTAYQSFEQVVNELFRDGVNWGRIVAFFSFGGALCVESVDKEMQ
                     VLVSRIAAWMATYLNDHLEPWIQENGGWDTFVELYGNNAAAESRKGQERFNRWFLTGM
                     TVAGVVLLGSLFSRK"
     exon            946..2574
                     /gene="BCL2L1"
                     /gene_synonym="Bcl-X; BCL-XL/S; BCL2L; BCLX; PPP1R52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2551..2556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2L1"
                     /gene_synonym="Bcl-X; BCL-XL/S; BCL2L; BCLX; PPP1R52"
                     /note="hexamer: AATAAA"
     polyA_site      2574
                     /gene="BCL2L1"
                     /gene_synonym="Bcl-X; BCL-XL/S; BCL2L; BCLX; PPP1R52"
                     /note="major polyA site"
ORIGIN      
        1 ctcgatccgg gcgatggagg aggaagcaag cgagggggct ggttcctgag cttcgcaatt
       61 cctgtgtcgc cttctgggct cccagcctgc cgggtcgcat gatccctccg gccggagctg
      121 gtttttttgc cagccaccgc gaggccggct gagttaccgg catccccgca gccacctcct
      181 ctcccgacct gtgatacaaa agatcttccg ggggctgcac ctgcctgcct ttgcctaagg
      241 cggatttgaa tctctttctc tcccttcaga atcttatctt ggctttggat cttagaagag
      301 aatcactaac cagagacgag actcagtgag tgagcaggtg ttttggacaa tggactggtt
      361 gagcccatcc ctattataaa aatgtctcag agcaaccggg agctggtggt tgactttctc
      421 tcctacaagc tttcccagaa aggatacagc tggagtcagt ttagtgatgt ggaagagaac
      481 aggactgagg ccccagaagg gactgaatcg gagatggaga cccccagtgc catcaatggc
      541 aacccatcct ggcacctggc agacagcccc gcggtgaatg gagccactgg ccacagcagc
      601 agtttggatg cccgggaggt gatccccatg gcagcagtaa agcaagcgct gagggaggca
      661 ggcgacgagt ttgaactgcg gtaccggcgg gcattcagtg acctgacatc ccagctccac
      721 atcaccccag ggacagcata tcagagcttt gaacaggtag tgaatgaact cttccgggat
      781 ggggtaaact ggggtcgcat tgtggccttt ttctccttcg gcggggcact gtgcgtggaa
      841 agcgtagaca aggagatgca ggtattggtg agtcggatcg cagcttggat ggccacttac
      901 ctgaatgacc acctagagcc ttggatccag gagaacggcg gctgggatac ttttgtggaa
      961 ctctatggga acaatgcagc agccgagagc cgaaagggcc aggaacgctt caaccgctgg
     1021 ttcctgacgg gcatgactgt ggccggcgtg gttctgctgg gctcactctt cagtcggaaa
     1081 tgaccagaca ctgaccatcc actctaccct cccaccccct tctctgctcc accacatcct
     1141 ccgtccagcc gccattgcca ccaggagaac cactacatgc agcccatgcc cacctgccca
     1201 tcacagggtt gggcccagat ctggtccctt gcagctagtt ttctagaatt tatcacactt
     1261 ctgtgagacc cccacacctc agttcccttg gcctcagaat tcacaaaatt tccacaaaat
     1321 ctgtccaaag gaggctggca ggtatggaag ggtttgtggc tgggggcagg agggccctac
     1381 ctgattggtg caacccttac cccttagcct ccctgaaaat gtttttctgc cagggagctt
     1441 gaaagttttc agaacctctt ccccagaaag gagactagat tgcctttgtt ttgatgtttg
     1501 tggcctcaga attgatcatt ttccccccac tctccccaca ctaacctggg ttccctttcc
     1561 ttccatccct accccctaag agccatttag gggccacttt tgactaggga ttcaggctgc
     1621 ttgggataaa gatgcaagga ccaggactcc ctcctcacct ctggactggc tagagtcctc
     1681 actcccagtc caaatgtcct ccagaagcct ctggctagag gccagcccca cccaggaggg
     1741 agggggctat agctacagga agcaccccat gccaaagcta gggtggccct tgcagttcag
     1801 caccacccta gtcccttccc ctccctggct cccatgacca tactgaggga ccaactgggc
     1861 ccaagacaga tgccccagag ctgtttatgg cctcagctgc ctcacttcct acaagagcag
     1921 cctgtggcat ctttgccttg ggctgctcct catggtgggt tcaggggact cagccctgag
     1981 gtgaaaggga gctatcagga acagctatgg gagccccagg gtcttcccta cctcaggcag
     2041 gaagggcagg aaggagagcc tgctgcatgg ggtggggtag ggctgactag aagggccagt
     2101 cctgcctggc caggcagatc tgtgccccat gcctgtccag cctgggcagc caggctgcca
     2161 aggccagagt ggcctggcca ggagctcttc aggcctccct ctctcttctg ctccaccctt
     2221 ggcctgtctc atccccaggg gtcccagcca ccccgggctc tctgctgtac atatttgaga
     2281 ctagttttta ttccttgtga agatgatata ctatttttgt taagcgtgtc tgtatttatg
     2341 tgtgaggagc tgctggcttg cagtgcgcgt gcacgtggag agctggtgcc cggagattgg
     2401 acggcctgat gctccctccc ctgccctggt ccagggaagc tggccgaggg tcctggctcc
     2461 tgaggggcat ctgcccctcc cccaaccccc accccacact tgttccagct ctttgaaata
     2521 gtctgtgtga aggtgaaagt gcagttcagt aataaactgt gtttactcag tgaa
//
