LOCUS       NM_004049                780 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens BCL2 related protein A1 (BCL2A1), transcript variant
            1, mRNA.
ACCESSION   NM_004049
VERSION     NM_004049.4
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 780)
  AUTHORS   Zhao,S., Wang,Q., Zhang,X., Ma,B., Shi,Y., Yin,Y., Kong,W.,
            Zhang,W., Li,J. and Yang,H.
  TITLE     MARCH5-mediated downregulation of ACC2 promotes fatty acid
            oxidation and tumor progression in ovarian cancer
  JOURNAL   Free Radic Biol Med 212, 464-476 (2024)
   PUBMED   38211832
  REMARK    GeneRIF: MARCH5-mediated downregulation of ACC2 promotes fatty acid
            oxidation and tumor progression in ovarian cancer.
REFERENCE   2  (bases 1 to 780)
  AUTHORS   Dai,J., SoRelle,E.D., Heckenberg,E., Song,L., Cable,J.M.,
            Crawford,G.E. and Luftig,M.A.
  TITLE     Epstein-Barr virus induces germinal center light zone chromatin
            architecture and promotes survival through enhancer looping at the
            BCL2A1 locus
  JOURNAL   mBio 15 (1), e0244423 (2024)
   PUBMED   38059622
  REMARK    GeneRIF: Epstein-Barr virus induces germinal center light zone
            chromatin architecture and promotes survival through enhancer
            looping at the BCL2A1 locus.
REFERENCE   3  (bases 1 to 780)
  AUTHORS   Decombis,S., Bellanger,C., Le Bris,Y., Madiot,C., Jardine,J.,
            Santos,J.C., Boulet,D., Dousset,C., Menard,A., Kervoelen,C.,
            Douillard,E., Moreau,P., Minvielle,S., Moreau-Aubry,A.,
            Tessoulin,B., Roue,G., Bidere,N., Le Gouill,S.,
            Pellat-Deceunynck,C. and Chiron,D.
  TITLE     CARD11 gain of function upregulates BCL2A1 expression and promotes
            resistance to targeted therapies combination in B-cell lymphoma
  JOURNAL   Blood 142 (18), 1543-1555 (2023)
   PUBMED   37562004
  REMARK    GeneRIF: CARD11 gain of function upregulates BCL2A1 expression and
            promotes resistance to targeted therapies combination in B-cell
            lymphoma.
REFERENCE   4  (bases 1 to 780)
  AUTHORS   Gao,L., Ye,Z., Peng,S., Lei,P., Song,P., Li,Z., Zhou,L., Hua,Q.,
            Cheng,L., Wei,H., Liu,J. and Cai,Q.
  TITLE     BCL2A1 is associated with tumor-associated macrophages and
            unfavorable prognosis in human gliomas
  JOURNAL   Aging (Albany NY) 15 (20), 11611-11638 (2023)
   PUBMED   37889551
  REMARK    GeneRIF: BCL2A1 is associated with tumor-associated macrophages and
            unfavorable prognosis in human gliomas.
REFERENCE   5  (bases 1 to 780)
  AUTHORS   Li,J., Sun,L., Xie,F., Shao,T., Wu,S., Li,X., Zhang,L. and Wang,R.
  TITLE     MiR-3976 regulates HCT-8 cell apoptosis and parasite burden by
            targeting BCL2A1 in response to Cryptosporidium parvum infection
  JOURNAL   Parasit Vectors 16 (1), 221 (2023)
   PUBMED   37415254
  REMARK    GeneRIF: MiR-3976 regulates HCT-8 cell apoptosis and parasite
            burden by targeting BCL2A1 in response to Cryptosporidium parvum
            infection.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 780)
  AUTHORS   Karsan,A., Yee,E. and Harlan,J.M.
  TITLE     Endothelial cell death induced by tumor necrosis factor-alpha is
            inhibited by the Bcl-2 family member, A1
  JOURNAL   J Biol Chem 271 (44), 27201-27204 (1996)
   PUBMED   8910286
REFERENCE   7  (bases 1 to 780)
  AUTHORS   Karsan,A., Yee,E., Kaushansky,K. and Harlan,J.M.
  TITLE     Cloning of human Bcl-2 homologue: inflammatory cytokines induce
            human A1 in cultured endothelial cells
  JOURNAL   Blood 87 (8), 3089-3096 (1996)
   PUBMED   8605321
REFERENCE   8  (bases 1 to 780)
  AUTHORS   Choi,S.S., Park,I.C., Yun,J.W., Sung,Y.C., Hong,S.I. and Shin,H.S.
  TITLE     A novel Bcl-2 related gene, Bfl-1, is overexpressed in stomach
            cancer and preferentially expressed in bone marrow
  JOURNAL   Oncogene 11 (9), 1693-1698 (1995)
   PUBMED   7478596
REFERENCE   9  (bases 1 to 780)
  AUTHORS   Savitsky,K., Sfez,S., Tagle,D.A., Ziv,Y., Sartiel,A., Collins,F.S.,
            Shiloh,Y. and Rotman,G.
  TITLE     The complete sequence of the coding region of the ATM gene reveals
            similarity to cell cycle regulators in different species
  JOURNAL   Hum Mol Genet 4 (11), 2025-2032 (1995)
   PUBMED   8589678
REFERENCE   10 (bases 1 to 780)
  AUTHORS   Lin,E.Y., Orlofsky,A., Berger,M.S. and Prystowsky,M.B.
  TITLE     Characterization of A1, a novel hemopoietic-specific early-response
            gene with sequence similarity to bcl-2
  JOURNAL   J Immunol 151 (4), 1979-1988 (1993)
   PUBMED   8345191
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG198875.1 and U27467.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004049.3.
            
            Summary: This gene encodes a member of the BCL-2 protein family.
            The proteins of this family form hetero- or homodimers and act as
            anti- and pro-apoptotic regulators that are involved in a wide
            variety of cellular activities such as embryonic development,
            homeostasis and tumorigenesis. The protein encoded by this gene is
            able to reduce the release of pro-apoptotic cytochrome c from
            mitochondria and block caspase activation. This gene is a direct
            transcription target of NF-kappa B in response to inflammatory
            mediators, and is up-regulated by different extracellular signals,
            such as granulocyte-macrophage colony-stimulating factor (GM-CSF),
            CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which
            suggests a cytoprotective function that is essential for lymphocyte
            activation as well as cell survival. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: Y09397.1, SRR1163655.13913.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267953.4/ ENSP00000267953.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                BG198875.1         252-294
            44-780              U27467.1           1-737
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..780
                     /gene="BCL2A1"
                     /gene_synonym="ACC-1; ACC-2; ACC1; ACC2; BCL2L5; BFL1;
                     GRS; HBPA1"
                     /note="BCL2 related protein A1"
                     /db_xref="GeneID:597"
                     /db_xref="HGNC:HGNC:991"
                     /db_xref="MIM:601056"
     exon            1..497
                     /gene="BCL2A1"
                     /gene_synonym="ACC-1; ACC-2; ACC1; ACC2; BCL2L5; BFL1;
                     GRS; HBPA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..605
                     /gene="BCL2A1"
                     /gene_synonym="ACC-1; ACC-2; ACC1; ACC2; BCL2L5; BFL1;
                     GRS; HBPA1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hematopoietic BCL2-related protein A1; bcl2-L-5; protein
                     BFL-1; bcl-2-like protein 5; hemopoietic-specific early
                     response protein"
                     /codon_start=1
                     /product="bcl-2-related protein A1 isoform 1"
                     /protein_id="NP_004040.1"
                     /db_xref="CCDS:CCDS10312.1"
                     /db_xref="GeneID:597"
                     /db_xref="HGNC:HGNC:991"
                     /db_xref="MIM:601056"
                     /translation="MTDCEFGYIYRLAQDYLQCVLQIPQPGSGPSKTSRVLQNVAFSV
                     QKEVEKNLKSCLDNVNVVSVDTARTLFNQVMEKEFEDGIINWGRIVTIFAFEGILIKK
                     LLRQQIAPDVDTYKEISYFVAEFIMNNTGEWIRQNGGWENGFVKKFEPKSGWMTFLEV
                     TGKICEMLSLLKQYC"
     exon            498..780
                     /gene="BCL2A1"
                     /gene_synonym="ACC-1; ACC-2; ACC1; ACC2; BCL2L5; BFL1;
                     GRS; HBPA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      756..761
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2A1"
                     /gene_synonym="ACC-1; ACC-2; ACC1; ACC2; BCL2L5; BFL1;
                     GRS; HBPA1"
                     /note="hexamer: AATAAA"
     polyA_site      780
                     /gene="BCL2A1"
                     /gene_synonym="ACC-1; ACC-2; ACC1; ACC2; BCL2L5; BFL1;
                     GRS; HBPA1"
                     /note="major polyA site"
ORIGIN      
        1 agtgagcatt ctcagcacat tgcctcaaca gcttcaaggt gagccagctc aagactttgc
       61 tctccaccag gcagaagatg acagactgtg aatttggata tatttacagg ctggctcagg
      121 actatctgca gtgcgtccta cagataccac aacctggatc aggtccaagc aaaacgtcca
      181 gagtgctaca aaatgttgcg ttctcagtcc aaaaagaagt ggaaaagaat ctgaagtcat
      241 gcttggacaa tgttaatgtt gtgtccgtag acactgccag aacactattc aaccaagtga
      301 tggaaaagga gtttgaagac ggcatcatta actggggaag aattgtaacc atatttgcat
      361 ttgaaggtat tctcatcaag aaacttctac gacagcaaat tgccccggat gtggatacct
      421 ataaggagat ttcatatttt gttgcggagt tcataatgaa taacacagga gaatggataa
      481 ggcaaaacgg aggctgggaa aatggctttg taaagaagtt tgaacctaaa tctggctgga
      541 tgacttttct agaagttaca ggaaagatct gtgaaatgct atctctcctg aagcaatact
      601 gttgaccaga aaggacactc catattgtga aaccggccta atttttctga ctgatatgga
      661 aacgattgcc aacacatact tctactttta aataaacaac tttgatgatg taacttgacc
      721 ttccagagtt atggaaattt tgtccccatg taatgaataa attgtatgta tttttctcta
//
