LOCUS       NM_138761                795 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens BCL2 associated X, apoptosis regulator (BAX),
            transcript variant alpha, mRNA.
ACCESSION   NM_138761
VERSION     NM_138761.4
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 795)
  AUTHORS   Dadsena,S., Cuevas Arenas,R., Vieira,G., Brodesser,S., Melo,M.N.
            and Garcia-Saez,A.J.
  TITLE     Lipid unsaturation promotes BAX and BAK pore activity during
            apoptosis
  JOURNAL   Nat Commun 15 (1), 4700 (2024)
   PUBMED   38830851
  REMARK    GeneRIF: Lipid unsaturation promotes BAX and BAK pore activity
            during apoptosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 795)
  AUTHORS   Miller,M.S., Cowan,A.D., Brouwer,J.M., Smyth,S.T., Peng,L.,
            Wardak,A.Z., Uren,R.T., Luo,C., Roy,M.J., Shah,S., Tan,Z.,
            Reid,G.E., Colman,P.M. and Czabotar,P.E.
  TITLE     Sequence differences between BAX and BAK core domains manifest as
            differences in their interactions with lipids
  JOURNAL   FEBS J 291 (11), 2335-2353 (2024)
   PUBMED   38088212
  REMARK    GeneRIF: Sequence differences between BAX and BAK core domains
            manifest as differences in their interactions with lipids.
REFERENCE   3  (bases 1 to 795)
  AUTHORS   Schweighofer,S.V., Jans,D.C., Keller-Findeisen,J., Folmeg,A.,
            Ilgen,P., Bates,M. and Jakobs,S.
  TITLE     Endogenous BAX and BAK form mosaic rings of variable size and
            composition on apoptotic mitochondria
  JOURNAL   Cell Death Differ 31 (4), 469-478 (2024)
   PUBMED   38503846
  REMARK    GeneRIF: Endogenous BAX and BAK form mosaic rings of variable size
            and composition on apoptotic mitochondria.
REFERENCE   4  (bases 1 to 795)
  AUTHORS   Liu,X., Zhang,J., Wang,Z., Yan,M., Xu,M., Li,G., Shender,V.,
            Wei,J.J., Li,J., Shao,C., Zhang,S., Kong,B., Song,K. and Liu,Z.
  TITLE     Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian
            Cancer Progression
  JOURNAL   Adv Sci (Weinh) 11 (15), e2306229 (2024)
   PUBMED   38342602
  REMARK    GeneRIF: Splicing Factor PQBP1 Curtails BAX Expression to Promote
            Ovarian Cancer Progression.
REFERENCE   5  (bases 1 to 795)
  AUTHORS   Chen,Y., Li,S., Yang,Z., Wang,T., Yin,F., Zhao,X. and Zhang,Y.
  TITLE     Value of Bax and Bcl2 expression in peripheral blood mononuclear
            cells for clinical prognosis of patients with chronic heart failure
  JOURNAL   Medicine (Baltimore) 103 (3), e36943 (2024)
   PUBMED   38241555
  REMARK    GeneRIF: Value of Bax and Bcl2 expression in peripheral blood
            mononuclear cells for clinical prognosis of patients with chronic
            heart failure.
REFERENCE   6  (bases 1 to 795)
  AUTHORS   Salomons,G.S., Buitenhuis,C.K., Martinez Munoz,C.,
            Verwijs-Jassen,M., Behrendt,H., Zsiros,J. and Smets,L.A.
  TITLE     Mutational analysis of Bax and Bcl-2 in childhood acute
            lymphoblastic leukaemia
  JOURNAL   Int J Cancer 79 (3), 273-277 (1998)
   PUBMED   9645350
REFERENCE   7  (bases 1 to 795)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   8  (bases 1 to 795)
  AUTHORS   Apte,S.S., Mattei,M.G. and Olsen,B.R.
  TITLE     Mapping of the human BAX gene to chromosome 19q13.3-q13.4 and
            isolation of a novel alternatively spliced transcript, BAX delta
  JOURNAL   Genomics 26 (3), 592-594 (1995)
   PUBMED   7607685
REFERENCE   9  (bases 1 to 795)
  AUTHORS   Miyashita,T. and Reed,J.C.
  TITLE     Tumor suppressor p53 is a direct transcriptional activator of the
            human bax gene
  JOURNAL   Cell 80 (2), 293-299 (1995)
   PUBMED   7834749
REFERENCE   10 (bases 1 to 795)
  AUTHORS   Krieger,N.S., Sessler,N.E. and Bushinsky,D.A.
  TITLE     Acidosis inhibits osteoblastic and stimulates osteoclastic activity
            in vitro
  JOURNAL   Am J Physiol 262 (3 Pt 2), F442-F448 (1992)
   PUBMED   1558161
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE396495.1, BC014175.2 and
            AI565203.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_138761.3.
            
            Summary: The protein encoded by this gene belongs to the BCL2
            protein family. BCL2 family members form hetero- or homodimers and
            act as anti- or pro-apoptotic regulators that are involved in a
            wide variety of cellular activities. This protein forms a
            heterodimer with BCL2, and functions as an apoptotic activator. The
            association and the ratio of BAX to BCL2 also determines survival
            or death of a cell following an apoptotic stimulus. This protein is
            reported to interact with, and increase the opening of, the
            mitochondrial voltage-dependent anion channel (VDAC), which leads
            to the loss in membrane potential and the release of cytochrome c.
            The expression of this gene is regulated by the tumor suppressor
            P53 and has been shown to be involved in P53-mediated apoptosis.
            Multiple alternatively spliced transcript variants, which encode
            different isoforms, have been reported for this gene. [provided by
            RefSeq, Dec 2019].
            
            Transcript Variant: This variant (alpha) has an alternate splice
            site in the 3' coding region which causes a frame-shift, compared
            to variant 1. The resulting isoform (alpha, also known as psi) has
            a shorter and different C terminus, compared to isoform 1.
            
            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 :: BC014175.2, SRR1163657.238306.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345358.12/ ENSP00000263262.9
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BE396495.1         16-17
            3-710               BC014175.2         1-708
            711-711             AI565203.1         91-91               c
            712-795             BC014175.2         710-793
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..795
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /note="BCL2 associated X, apoptosis regulator"
                     /db_xref="GeneID:581"
                     /db_xref="HGNC:HGNC:959"
                     /db_xref="MIM:600040"
     exon            1..88
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..633
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /note="isoform alpha is encoded by transcript variant
                     alpha; apoptosis regulator BAX; bcl2-L-4; bcl-2-like
                     protein 4; BCL2-associated X protein omega; Baxdelta2G9;
                     BCL2 associated X protein; Baxdelta2omega;
                     Baxdelta2G9omega; Baxdelta2(G8)-RFS protein"
                     /codon_start=1
                     /product="apoptosis regulator BAX isoform alpha"
                     /protein_id="NP_620116.1"
                     /db_xref="CCDS:CCDS12742.1"
                     /db_xref="GeneID:581"
                     /db_xref="HGNC:HGNC:959"
                     /db_xref="MIM:600040"
                     /translation="MDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPE
                     LALDPVPQDASTKKLSECLKRIGDELDSNMELQRMIAAVDTDSPREVFFRVAADMFSD
                     GNFNWGRVVALFYFASKLVLKALCTKVPELIRTIMGWTLDFLRERLLGWIQDQGGWDG
                     LLSYFGTPTWQTVTIFVAGVLTASLTIWKKMG"
     exon            89..140
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /inference="alignment:Splign:2.1.0"
     exon            141..287
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /inference="alignment:Splign:2.1.0"
     exon            288..423
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /inference="alignment:Splign:2.1.0"
     exon            424..528
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /inference="alignment:Splign:2.1.0"
     exon            529..795
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      774..779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /note="hexamer: AATAAA"
     polyA_site      795
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /note="major polyA site"
ORIGIN      
        1 gcgctgcggc cgcccgcgcg gacccggcga gaggcggcgg cgggagcggc ggtgatggac
       61 gggtccgggg agcagcccag aggcgggggg cccaccagct ctgagcagat catgaagaca
      121 ggggcccttt tgcttcaggg tttcatccag gatcgagcag ggcgaatggg gggggaggca
      181 cccgagctgg ccctggaccc ggtgcctcag gatgcgtcca ccaagaagct gagcgagtgt
      241 ctcaagcgca tcggggacga actggacagt aacatggagc tgcagaggat gattgccgcc
      301 gtggacacag actccccccg agaggtcttt ttccgagtgg cagctgacat gttttctgac
      361 ggcaacttca actggggccg ggttgtcgcc cttttctact ttgccagcaa actggtgctc
      421 aaggccctgt gcaccaaggt gccggaactg atcagaacca tcatgggctg gacattggac
      481 ttcctccggg agcggctgtt gggctggatc caagaccagg gtggttggga cggcctcctc
      541 tcctactttg ggacgcccac gtggcagacc gtgaccatct ttgtggcggg agtgctcacc
      601 gcctcactca ccatctggaa gaagatgggc tgaggccccc agctgccttg gactgtgttt
      661 ttcctccata aattatggca tttttctggg aggggtgggg attgggggac gtgggcattt
      721 ttcttacttt tgtaattatt ggggggtgtg gggaagagtg gtcttgaggg ggtaataaac
      781 ctccttcggg acaca
//
