LOCUS       NM_022845               3103 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens core-binding factor subunit beta (CBFB), transcript
            variant 1, mRNA.
ACCESSION   NM_022845
VERSION     NM_022845.3
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 3103)
  AUTHORS   Beyltjens,T., Boudin,E., Revencu,N., Boeckx,N., Bertrand,M.,
            Schutz,L., Haack,T.B., Weber,A., Biliouri,E., Vinksel,M.,
            Zagozen,A., Peterlin,B., Pai,S., Telegrafi,A., Henderson,L.B.,
            Ells,C., Turner,L., Wuyts,W., Van Hul,W., Hendrickx,G. and
            Mortier,G.R.
  TITLE     Heterozygous pathogenic variants involving CBFB cause a new
            skeletal disorder resembling cleidocranial dysplasia
  JOURNAL   J Med Genet 60 (5), 498-504 (2023)
   PUBMED   36241386
  REMARK    GeneRIF: Heterozygous pathogenic variants involving CBFB cause a
            new skeletal disorder resembling cleidocranial dysplasia.
REFERENCE   2  (bases 1 to 3103)
  AUTHORS   Malik,N., Kim,Y.I., Yan,H., Tseng,Y.C., du Bois,W., Ayaz,G.,
            Tran,A.D., Vera-Ramirez,L., Yang,H., Michalowski,A.M., Kruhlak,M.,
            Lee,M., Hunter,K.W. and Huang,J.
  TITLE     Dysregulation of Mitochondrial Translation Caused by CBFB
            Deficiency Cooperates with Mutant PIK3CA and Is a Vulnerability in
            Breast Cancer
  JOURNAL   Cancer Res 83 (8), 1280-1298 (2023)
   PUBMED   36799863
  REMARK    GeneRIF: Dysregulation of Mitochondrial Translation Caused by CBFB
            Deficiency Cooperates with Mutant PIK3CA and Is a Vulnerability in
            Breast Cancer.
REFERENCE   3  (bases 1 to 3103)
  AUTHORS   Khan,A.S., Campbell,K.J., Cameron,E.R. and Blyth,K.
  TITLE     The RUNX/CBFbeta Complex in Breast Cancer: A Conundrum of Context
  JOURNAL   Cells 12 (4), 641 (2023)
   PUBMED   36831308
  REMARK    GeneRIF: The RUNX/CFBbeta Complex in Breast Cancer: A Conundrum of
            Context.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3103)
  AUTHORS   Jiang,Y., Chao,H.Y., Lu,X.Z., Wu,P. and Sun,X.C.
  TITLE     [Molecular Genetic Characteristics of Acute Myeloid Leukemia
            Patients with CBFbeta-MYH11 Positive]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 30 (6), 1661-1667 (2022)
   PUBMED   36476886
  REMARK    GeneRIF: [Molecular Genetic Characteristics of Acute Myeloid
            Leukemia Patients with CBFbeta-MYH11 Positive].
REFERENCE   5  (bases 1 to 3103)
  AUTHORS   Zhao,C., Wang,S. and Wang,K.
  TITLE     Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic
            mitochondrial mutations in acute myeloid leukaemia
  JOURNAL   Br J Haematol 199 (4), e25-e29 (2022)
   PUBMED   36039018
  REMARK    GeneRIF: Mutual exclusivity between the fusion gene CBFB::MYH11 and
            somatic mitochondrial mutations in acute myeloid leukaemia.
REFERENCE   6  (bases 1 to 3103)
  AUTHORS   Chiba,N., Watanabe,T., Nomura,S., Tanaka,Y., Minowa,M., Niki,M.,
            Kanamaru,R. and Satake,M.
  TITLE     Differentiation dependent expression and distinct subcellular
            localization of the protooncogene product, PEBP2beta/CBFbeta, in
            muscle development
  JOURNAL   Oncogene 14 (21), 2543-2552 (1997)
   PUBMED   9191054
REFERENCE   7  (bases 1 to 3103)
  AUTHORS   Bae,S.C., Takahashi,E., Zhang,Y.W., Ogawa,E., Shigesada,K.,
            Namba,Y., Satake,M. and Ito,Y.
  TITLE     Cloning, mapping and expression of PEBP2 alpha C, a third gene
            encoding the mammalian Runt domain
  JOURNAL   Gene 159 (2), 245-248 (1995)
   PUBMED   7622058
REFERENCE   8  (bases 1 to 3103)
  AUTHORS   Liu,P., Seidel,N., Bodine,D., Speck,N., Tarle,S. and Collins,F.S.
  TITLE     Acute myeloid leukemia with Inv (16) produces a chimeric
            transcription factor with a myosin heavy chain tail
  JOURNAL   Cold Spring Harb Symp Quant Biol 59, 547-553 (1994)
   PUBMED   7587111
REFERENCE   9  (bases 1 to 3103)
  AUTHORS   Liu,P., Tarle,S.A., Hajra,A., Claxton,D.F., Marlton,P.,
            Freedman,M., Siciliano,M.J. and Collins,F.S.
  TITLE     Fusion between transcription factor CBF beta/PEBP2 beta and a
            myosin heavy chain in acute myeloid leukemia
  JOURNAL   Science 261 (5124), 1041-1044 (1993)
   PUBMED   8351518
REFERENCE   10 (bases 1 to 3103)
  AUTHORS   Muller,C.W. and Schulz,G.E.
  TITLE     Structure of the complex of adenylate kinase from Escherichia coli
            with the inhibitor P1,P5-di(adenosine-5'-)pentaphosphate
  JOURNAL   J Mol Biol 202 (4), 909-912 (1988)
   PUBMED   2845103
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC018509.1, BM679848.1 and
            L20298.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 19, 2019 this sequence version replaced NM_022845.2.
            
            Summary: The protein encoded by this gene is the beta subunit of a
            heterodimeric core-binding transcription factor belonging to the
            PEBP2/CBF transcription factor family which master-regulates a host
            of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis
            (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory
            subunit; it allosterically enhances DNA binding by alpha subunit as
            the complex binds to the core site of various enhancers and
            promoters, including murine leukemia virus, polyomavirus enhancer,
            T-cell receptor enhancers and GM-CSF promoters. Alternative
            splicing generates two mRNA variants, each encoding a distinct
            carboxyl terminus. In some cases, a pericentric inversion of
            chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript
            consisting of the N terminus of core-binding factor beta in a
            fusion with the C-terminal portion of the smooth muscle myosin
            heavy chain 11. This chromosomal rearrangement is associated with
            acute myeloid leukemia of the M4Eo subtype. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR14038191.2493973.1,
                                           SRR14038192.1525220.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000412916.7/ ENSP00000415151.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-618               BC018509.1         3-620
            619-889             BM679848.1         45-315              c
            890-1189            BC018509.1         923-1222
            1190-2149           L20298.1           941-1900
            2150-3103           BC018509.1         2181-3134
FEATURES             Location/Qualifiers
     source          1..3103
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..3103
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /note="core-binding factor subunit beta"
                     /db_xref="GeneID:865"
                     /db_xref="HGNC:HGNC:1539"
                     /db_xref="MIM:121360"
     exon            1..337
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             260..823
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     SL3/AKV core-binding factor beta subunit; polyomavirus
                     enhancer binding protein 2, beta subunit; SL3-3 enhancer
                     factor 1 beta subunit; CBF-beta; PEA2-beta; PEBP2-beta;
                     SL3-3 enhancer factor 1 subunit beta"
                     /codon_start=1
                     /product="core-binding factor subunit beta isoform 1"
                     /protein_id="NP_074036.1"
                     /db_xref="CCDS:CCDS45508.1"
                     /db_xref="GeneID:865"
                     /db_xref="HGNC:HGNC:1539"
                     /db_xref="MIM:121360"
                     /translation="MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARF
                     QNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLEREAGKVYLKAPMI
                     LNGVCVIWKGWIDLQRLDGMGCLEFDEERAQQEDALAQQAFEEARRRTREFEDRDRSH
                     REEMEARRQQDPSPGSNLGGGDDLKLR"
     exon            338..424
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /inference="alignment:Splign:2.1.0"
     exon            425..541
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /inference="alignment:Splign:2.1.0"
     exon            542..658
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /inference="alignment:Splign:2.1.0"
     exon            659..754
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /inference="alignment:Splign:2.1.0"
     exon            755..3103
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3081..3086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /note="hexamer: AATAAA"
     polyA_site      3103
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /note="major polyA site"
ORIGIN      
        1 ggtgagcgct ggggctgcgc gggcggcagg caacggctga ggcggcggcg gcggcggcgg
       61 cggcgtgggt tgggctcgag cgggcggcgg cgcctcagac tccccggaac gggagcccac
      121 gcgggcgggc gcctgaaaca aagggaagcg ggcgtccggg cgccgcgggt gggcggtcag
      181 tcggtcagcg cggagccagc cagcgggtgc ccgcgcaagc cccgagcgcg gccggccggc
      241 gcggcctcag ggcgggaaga tgccgcgcgt cgtgcccgac cagagaagca agttcgagaa
      301 cgaggagttt tttaggaagc tgagccgcga gtgtgagatt aagtacacgg gcttcaggga
      361 ccggccccac gaggaacgcc aggcacgctt ccagaacgcc tgccgcgacg gccgctcgga
      421 aatcgctttt gtggccacag gaaccaatct gtctctccag ttttttccgg ccagctggca
      481 gggagaacag cgacaaacac ctagccgaga gtatgtcgac ttagaaagag aagcaggcaa
      541 ggtatatttg aaggctccca tgattctgaa tggagtctgt gttatctgga aaggctggat
      601 tgatctccaa agactggatg gtatgggctg tctggagttt gatgaggagc gagcccagca
      661 ggaggatgca ttagcacaac aggcctttga agaggctcgg agaaggacac gcgaatttga
      721 agatagagac aggtctcatc gggaggaaat ggaggcaaga agacaacaag accctagtcc
      781 tggttccaat ttaggtggtg gtgatgacct caaacttcgt taattaatag cacagcagat
      841 gtgtgctgcc catctttaca tacacattgc ttctagttgg cagaaataat tgattaaaag
      901 accagaaact gtgataactg gaggtactac ggtctatttc tcaaccttag gcagtaatag
      961 acatcacaaa ctgccatggt tttgcactat gattataata cctgcatttc taatttttta
     1021 agcatgtagc cagtaataat ttgaagtttt ttttctatgc aagcttacct tgttggcatt
     1081 attttaggga gttgaaacta tcaactgtaa agctcctttt cttccacttt aatttaaaag
     1141 ttcatgtcat ttaaaaacaa gtcaagaaat taaaattgta tcagagggtt ttctctaatc
     1201 attttttcta tttttttttt tgtacttcta gatgttttgg ttatacagct tcattttaga
     1261 tgagcattct tattttttgt tttgtttgcc ccatttcctt ttgtgttttt atagtctata
     1321 gcattttaaa actgctgatg ttgtttgcat tatttacagg ctaaaaactt agtagcatag
     1381 agctgtctgc cacagccttc tgacaaagtt tacagttatt aaagttgcag tatcctttta
     1441 aatgctagta atcagcactc tttctttttt ttttttttaa tagagacagg gtctcgcagt
     1501 gttgcccagg ctggtctcga actcctggca tcaagcgatc ctcctgcctt agcctcccag
     1561 agtactggga ttacaggctc tttcttttta aacataaaag ttttaaattg gtattaactc
     1621 tgtactctgc cctagattgt tttagcttct gttctgtaat catgagtttg gttggagata
     1681 ttctccatag atgatcttct actgaaatgc ctaaagaagt cacaggctgg cttctgtttt
     1741 attcagggat ttttttaaaa agtcaatcag aaaagggata ctggagcttc ttcatgtatg
     1801 taacagcata ttaaactgga gacagtgatg aatcagctac aaaggtaata ttgtattaaa
     1861 atcatgttta agatagctgc ttttatgtgt attttatatt gcatgctttt gtaaaaacat
     1921 gctgggtgat gaaagattag ttttagagag aaaatgttca tctgtgcaga ggatgcattt
     1981 tcttccatta attctggaaa aaacgttcac agttatatat atggtatttt gcaaaaggac
     2041 tattaataga accttttgag atgaattaat gtaagaatat tttttaaata ggcttactgt
     2101 caaattgcaa cttttttttt agatacagag tggaaaacag tgctaagtca tttggcacct
     2161 ccttacaaat atttttcatg gtcacattta ttaaatgtta ctacatttct gaatttttga
     2221 aaaatgtatt ttatcattaa atggcattat tttaaagggt gaaaaactga cacagtcaat
     2281 tcagaaaatg gactgaagtc tgaataaggt cattgcattt aaaaagcata taactgtact
     2341 tgactgatga gggaggtgtt actttcattg tatataggtc ttatttcata aacagatatc
     2401 ctgtatcaaa taaaagtatt tgttatatat ttgaagttat gcatggaaag gagtgtgttt
     2461 aaattgttac aaacaataat gcgtcattaa aggccatgct gatcttgcat aactataagt
     2521 actatgaatg aatttggttg gttttggtgt tgtacagctc acatgtttac acactcagtg
     2581 ccctaatttc ccctgaggga atcgcttttt aagtgatcct tacagtggtg ttttatgtta
     2641 ctttattaca gagctccttg gttttttact tctgcactta aattttttta aataacatga
     2701 tgatggtaca ttttcctcta ttgtctagct aagggctttc ggtccaccag taaataagat
     2761 caaatgctct taaatgttcc tgttaccatc ctaatgtaaa tactggattt ttctgtcatt
     2821 tagcaccatg ctgcttctgt ctgtcttaat gctggcatta agatcatgag ccctttttct
     2881 ccagtagtac aggctttgaa aactacttct attaagttat tgatgcaatt tgatattttt
     2941 tcataatcta tatttaaaca aaattacatc attgcatcat cttttctaaa ttcatctcca
     3001 ttaaaacttg ccttaagcta ccagattgct tttgccacca ttggccatac tgtgtgtttg
     3061 tttgtttaat ttactttcac aataaacttc tgtgtagtaa aaa
//
