LOCUS       NM_024812               2817 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens BAALC binder of MAP3K1 and KLF4 (BAALC), transcript
            variant 1, mRNA.
ACCESSION   NM_024812
VERSION     NM_024812.3
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 2817)
  AUTHORS   Verma,D., Kumar,R., Ali,M.S., Singh,J., Arora,M., Singh,I.,
            Kumari,S., Bakhshi,S., Sharma,A., Palanichamy,J.K., Tanwar,P.,
            Singh,A.R. and Chopra,A.
  TITLE     BAALC gene expression tells a serious patient outcome tale in
            NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute
            myeloid leukemia in adults
  JOURNAL   Blood Cells Mol Dis 95, 102662 (2022)
   PUBMED   35429905
  REMARK    GeneRIF: BAALC gene expression tells a serious patient outcome tale
            in NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute
            myeloid leukemia in adults.
REFERENCE   2  (bases 1 to 2817)
  AUTHORS   Marjanovic,I., Karan-Djurasevic,T., Kostic,T., Virijevic,M.,
            Vukovic,N.S., Pavlovic,S. and Tosic,N.
  TITLE     Prognostic significance of combined BAALC and MN1 gene expression
            level in acute myeloid leukemia with normal karyotype
  JOURNAL   Int J Lab Hematol 43 (3), 433-440 (2021)
   PUBMED   33242229
  REMARK    GeneRIF: Prognostic significance of combined BAALC and MN1 gene
            expression level in acute myeloid leukemia with normal karyotype.
REFERENCE   3  (bases 1 to 2817)
  AUTHORS   Dannenmann,B., Klimiankou,M., Oswald,B., Solovyeva,A., Mardan,J.,
            Nasri,M., Ritter,M., Zahabi,A., Arreba-Tutusaus,P., Mir,P.,
            Stein,F., Kandabarau,S., Lachmann,N., Moritz,T., Morishima,T.,
            Konantz,M., Lengerke,C., Ripperger,T., Steinemann,D., Erlacher,M.,
            Niemeyer,C.M., Zeidler,C., Welte,K. and Skokowa,J.
  TITLE     iPSC modeling of stage-specific leukemogenesis reveals BAALC as a
            key oncogene in severe congenital neutropenia
  JOURNAL   Cell Stem Cell 28 (5), 906-922 (2021)
   PUBMED   33894142
  REMARK    GeneRIF: iPSC modeling of stage-specific leukemogenesis reveals
            BAALC as a key oncogene in severe congenital neutropenia.
            Erratum:[Cell Stem Cell. 2023 Sep 7;30(9):1282. doi:
            10.1016/j.stem.2023.07.015.. PMID: 37683606]
REFERENCE   4  (bases 1 to 2817)
  AUTHORS   Maki,H., Yoshimi,A., Shimada,T., Arai,S., Morita,K., Kamikubo,Y.,
            Ikegawa,M. and Kurokawa,M.
  TITLE     Physical interaction between BAALC and DBN1 induces chemoresistance
            in leukemia
  JOURNAL   Exp Hematol 94, 31-36 (2021)
   PUBMED   33453340
  REMARK    GeneRIF: Physical interaction between BAALC and DBN1 induces
            chemoresistance in leukemia.
REFERENCE   5  (bases 1 to 2817)
  AUTHORS   Jentzsch,M., Bill,M., Grimm,J., Brauer,D., Backhaus,D.,
            Goldmann,K., Schulz,J., Niederwieser,D., Platzbecker,U. and
            Schwind,S.
  TITLE     Allogeneic stem cell transplantation mitigates the adverse
            prognostic impact of high diagnostic BAALC and MN1 expression in
            AML
  JOURNAL   Ann Hematol 99 (10), 2417-2427 (2020)
   PUBMED   32862286
  REMARK    GeneRIF: Allogeneic stem cell transplantation mitigates the adverse
            prognostic impact of high diagnostic BAALC and MN1 expression in
            AML.
REFERENCE   6  (bases 1 to 2817)
  AUTHORS   Langer,C., Radmacher,M.D., Ruppert,A.S., Whitman,S.P., Paschka,P.,
            Mrozek,K., Baldus,C.D., Vukosavljevic,T., Liu,C.G., Ross,M.E.,
            Powell,B.L., de la Chapelle,A., Kolitz,J.E., Larson,R.A.,
            Marcucci,G. and Bloomfield,C.D.
  CONSRTM   Cancer and Leukemia Group B (CALGB)
  TITLE     High BAALC expression associates with other molecular prognostic
            markers, poor outcome, and a distinct gene-expression signature in
            cytogenetically normal patients younger than 60 years with acute
            myeloid leukemia: a Cancer and Leukemia Group B (CALGB) study
  JOURNAL   Blood 111 (11), 5371-5379 (2008)
   PUBMED   18378853
  REMARK    GeneRIF: high BAALC expression is an independent adverse prognostic
            factor and is associated with a specific gene-expression profile
REFERENCE   7  (bases 1 to 2817)
  AUTHORS   Baldus,C.D., Martus,P., Burmeister,T., Schwartz,S., Gokbuget,N.,
            Bloomfield,C.D., Hoelzer,D., Thiel,E. and Hofmann,W.K.
  TITLE     Low ERG and BAALC expression identifies a new subgroup of adult
            acute T-lymphoblastic leukemia with a highly favorable outcome
  JOURNAL   J Clin Oncol 25 (24), 3739-3745 (2007)
   PUBMED   17646667
  REMARK    GeneRIF: Low expression of both ERG and BAALC identifies T-ALL
            patients with a distinctly favorable long-term outcome.
REFERENCE   8  (bases 1 to 2817)
  AUTHORS   Satoskar,A.A., Tanner,S.M., Weinstein,M., Qualman,S.J. and de la
            Chapelle,A.
  TITLE     Baalc, a marker of mesoderm and muscle
  JOURNAL   Gene Expr Patterns 5 (4), 463-473 (2005)
   PUBMED   15749074
  REMARK    GeneRIF: High transcript levels occur in leukemic blasts from some
            patients with acute myeloid leukemia.
REFERENCE   9  (bases 1 to 2817)
  AUTHORS   Marcucci,G., Mrozek,K. and Bloomfield,C.D.
  TITLE     Molecular heterogeneity and prognostic biomarkers in adults with
            acute myeloid leukemia and normal cytogenetics
  JOURNAL   Curr Opin Hematol 12 (1), 68-75 (2005)
   PUBMED   15604894
  REMARK    GeneRIF: The BAALC gene, located on chromosome 8q22.3, encodes a
            protein with no homology to any known proteins or functional
            domains.
            Review article
REFERENCE   10 (bases 1 to 2817)
  AUTHORS   Tanner,S.M., Austin,J.L., Leone,G., Rush,L.J., Plass,C.,
            Heinonen,K., Mrozek,K., Sill,H., Knuutila,S., Kolitz,J.E.,
            Archer,K.J., Caligiuri,M.A., Bloomfield,C.D. and de La Chapelle,A.
  TITLE     BAALC, the human member of a novel mammalian neuroectoderm gene
            lineage, is implicated in hematopoiesis and acute leukemia
  JOURNAL   Proc Natl Acad Sci U S A 98 (24), 13901-13906 (2001)
   PUBMED   11707601
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI548687.1, AK022077.1 and
            BC035038.2.
            
            On Nov 22, 2018 this sequence version replaced NM_024812.2.
            
            Summary: This gene was identified by gene expression studies in
            patients with acute myeloid leukemia (AML). The gene is conserved
            among mammals and is not found in lower organisms. Tissues that
            express this gene develop from the neuroectoderm. Multiple
            alternatively spliced transcript variants that encode different
            proteins have been described for this gene; however, some of the
            transcript variants are found only in AML cell lines. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and it encodes the longer protein (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 :: BP213551.1, AK022077.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309982.10/ ENSP00000312457.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-83                BI548687.1         34-116
            84-739              AK022077.1         94-749
            740-2817            BC035038.2         585-2662
FEATURES             Location/Qualifiers
     source          1..2817
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     gene            1..2817
                     /gene="BAALC"
                     /note="BAALC binder of MAP3K1 and KLF4"
                     /db_xref="GeneID:79870"
                     /db_xref="HGNC:HGNC:14333"
                     /db_xref="MIM:606602"
     exon            1..333
                     /gene="BAALC"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..611
                     /gene="BAALC"
                     /note="isoform 1 is encoded by transcript variant 1; brain
                     and acute leukemia cytoplasmic protein; brain and acute
                     leukemia, cytoplasmic; BAALC, MEKK1 and KLF4 binding;
                     BAALC, MAP3K1 and KLF4 binding"
                     /codon_start=1
                     /product="brain and acute leukemia cytoplasmic protein
                     isoform 1"
                     /protein_id="NP_079088.1"
                     /db_xref="CCDS:CCDS6297.1"
                     /db_xref="GeneID:79870"
                     /db_xref="HGNC:HGNC:14333"
                     /db_xref="MIM:606602"
                     /translation="MGCGGSRADAIEPRYYESWTRETESTWLTYTDSDAPPSAAAPDS
                     GPEAGGLHSGMLEDGLPSNGVPRSTAPGGIPNPEKKTNCETQCPNPQSLSSGPLTQKQ
                     NGLQTTEAKRDAKRMPAKEVTINVTDSIQQMDRSRRITKNCVN"
     exon            334..500
                     /gene="BAALC"
                     /inference="alignment:Splign:2.1.0"
     exon            501..2817
                     /gene="BAALC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1839..1844
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BAALC"
                     /note="hexamer: AATAAA"
     polyA_site      1862
                     /gene="BAALC"
                     /note="major polyA site"
     regulatory      2793..2798
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BAALC"
                     /note="hexamer: AATAAA"
     polyA_site      2817
                     /gene="BAALC"
                     /note="major polyA site"
ORIGIN      
        1 ggactagggg cggcgggcac cgcaggagct ccgcgcggct gcagcgcggg cgggagcggg
       61 gacgcgatgt cgccgccgcc gcctccttgc gggccggggc tgcgcctccg gggctgagcc
      121 gccgccagag ccgacagccg agcagccgct gggcgctccc gcggcgcagg aggatgggct
      181 gcggcgggag ccgggcggat gccatcgagc cccgctacta cgagagctgg acccgggaga
      241 cagaatccac ctggctcacc tacaccgact cggacgcgcc gcccagcgcc gccgccccgg
      301 acagcggccc cgaagcgggc ggcctgcact cgggcatgct ggaagatgga ctgccctcca
      361 atggtgtgcc ccgatctaca gccccaggtg gaatacccaa cccagagaag aagacgaact
      421 gtgagaccca gtgcccaaat ccccagagcc tcagctcagg ccctctgacc cagaaacaga
      481 atggccttca gaccacagag gctaaaagag atgctaagag aatgcctgca aaagaagtca
      541 ccattaatgt aacagatagc atccaacaga tggacagaag tcgaagaatc acaaagaact
      601 gtgtcaacta gcagagagtc caagcagaag ggcagatgga cttcttcagt gtccttcacg
      661 gcactggatc ccatcaaaga accttgaaga agtggctgcc ccttgctgga cctgaattct
      721 actgagtccc tggcaagact gtcttacctg gcagcaaact gctgcctgat ttgttgggac
      781 cttctgagcc ttctacttat catgtaaatg tattggcaca gtgcttacat atgttaataa
      841 actgcaaatg tgcagttcag tttgtctctt tgcaactcct gtaatacggt ctggtgtaaa
      901 agtagtgagt taaagctaca ggtcagttta tgaaacagaa aagtaggaat gcattttctg
      961 ggtgaaagag tcacacctta gtgctataac tctcctgccc atgatagtgt attctgtttc
     1021 aggcaagctt attctttcct tctttcattt taaatattgt cattacaaat cttaccaggt
     1081 tcacttaaaa gctggctttc atccaactct aaacccacat attgaaaaaa tcaaggtaca
     1141 ggaaaactcc ttgttatcct tgtttcctta gcttggtatg agacagatcg gatccagttt
     1201 cccatgcacc aacccactgc ccatggcatg tctttgggag gtgtctgtga agcagtcata
     1261 cctgctcctc atctgcctgg aaagtcctcc tattccagtg tccatgttgg cctccagtcc
     1321 ttaatgtcac catgcttgtg gccaatgcat ccaaataagg atacccctca gggctcagct
     1381 agacattgca attttgcata gctttccagt tccctttgct tgtcttcttg actgtcttcc
     1441 ctctctatcg gggtcacttg caattgttaa tcaaagattg aacactgcgt aggagaggga
     1501 gatgatccag agacatgtgg cagcaggcat ggcttcccct tggcctctct gtacactgcc
     1561 ccaggactgt cattttggca tctgcaaagg aatcacttta gaaagccagc acctggttga
     1621 tgtgtattca tactgacatt agattgatgt gcactgcatt agaaatgagg tagctgacac
     1681 agaaaaagga tgttttgata ggaataattt tctagtatgt cttgaaacat gttcatctgg
     1741 aagtattttc ctccaaagta atgtagcatg atttttcaag gattgttaac atgcctggga
     1801 ttgggaaaga taggactaaa gttgtgccaa actatatcaa taaattccat gtttagcaga
     1861 aataggcagc ctattggtgt tatgtttatg taacatagtc cagagaactg acatgcaggt
     1921 caaaagtcag atacgcaacc tccttatctg ctaactctgt tattcttcaa acacaagtgg
     1981 gtagtgtcat ttttccttcc ttccttccat tggcagattg tatatttatt cacaaaacat
     2041 taaatgtcca tcctgtgcca ggtactatgc agatgttgag ggatttgggg tctggttagt
     2101 cgtgactatc tatcctgaat ctaacagtga cttcataact aggagactga attagaccct
     2161 taaggtatag tgtgtgttgc aaatcactct gcaatggaaa cttttatatt cagggtaggt
     2221 ttgtgtctta aactaggtgt tctaatcaat gtacaagact ttaccataca cgcaactata
     2281 gtttttctaa accttcatca ttttgtgatt ctttgagaaa gggcttttag gaactttatg
     2341 ttctaaaaaa tgtttttaac aataataaga taaaagaaaa acctgtgatt catatgtccc
     2401 cactggcatt actcagcagg agcccccagc tgccaaaggt tggcagtgat cctgcaagtt
     2461 caagggctct ttctccctgg ggatgtgctt tgtggcttct ctttacagct ttgtttctgc
     2521 atcagttcac tgctgcatgt tgtttggaat ttatcacctt aagaaagtgt ctctgtttta
     2581 tatagaaaca ctttctcact tacaggggag aaggaaatgc agggcacatg atctggccct
     2641 ccccagaaca atctggattt cacggagaca gcaaccagaa gttaaaccat gtgactaaaa
     2701 atgcatctgg ctactttttc atgtatgtat gagacagaaa ctaatcctta ctatcctatt
     2761 aggataccac ttttcattgc aaagtttgtg tcaataaagt cattaatttt aaacata
//
