LOCUS       NM_004364               2601 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens CCAAT enhancer binding protein alpha (CEBPA),
            transcript variant 1, mRNA.
ACCESSION   NM_004364
VERSION     NM_004364.5
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 2601)
  AUTHORS   Singh,A.K., Thacker,G., Upadhyay,V., Mishra,M., Sharma,A.,
            Sethi,A., Chowdhury,S., Siddiqui,S., Verma,S.P., Pandey,A.,
            Bhatt,M.L.B. and Trivedi,A.K.
  TITLE     Nemo-like kinase blocks myeloid differentiation by targeting tumor
            suppressor C/EBPalpha in AML
  JOURNAL   FEBS J 291 (20), 4539-4557 (2024)
   PUBMED   39110129
  REMARK    GeneRIF: Nemo-like kinase blocks myeloid differentiation by
            targeting tumor suppressor C/EBPalpha in AML.
REFERENCE   2  (bases 1 to 2601)
  AUTHORS   Muller,C., Bremer,A., Schreiber,S., Eichwald,S. and Calkhoven,C.F.
  TITLE     Nucleolar retention of a translational C/EBPalpha isoform
            stimulates rDNA transcription and cell size
  JOURNAL   EMBO J 29 (5), 897-909 (2010)
   PUBMED   20075868
  REMARK    GeneRIF: Results suggest that control of rRNA synthesis is a novel
            function of C/EBPalpha adding to its role as key regulator of cell
            growth and proliferation.
REFERENCE   3  (bases 1 to 2601)
  AUTHORS   Calkhoven,C.F., Muller,C. and Leutz,A.
  TITLE     Translational control of C/EBPalpha and C/EBPbeta isoform
            expression
  JOURNAL   Genes Dev 14 (15), 1920-1932 (2000)
   PUBMED   10921906
  REMARK    GeneRIF: mutational studies of the rat and chick orthologs
            demonstrating alternative translational initiation
REFERENCE   4  (bases 1 to 2601)
  AUTHORS   Lincoln,A.J., Monczak,Y., Williams,S.C. and Johnson,P.F.
  TITLE     Inhibition of CCAAT/enhancer-binding protein alpha and beta
            translation by upstream open reading frames
  JOURNAL   J Biol Chem 273 (16), 9552-9560 (1998)
   PUBMED   9545285
REFERENCE   5  (bases 1 to 2601)
  AUTHORS   Swart,G.W., van Groningen,J.J., van Ruissen,F., Bergers,M. and
            Schalkwijk,J.
  TITLE     Transcription factor C/EBPalpha: novel sites of expression and
            cloning of the human gene
  JOURNAL   Biol Chem 378 (5), 373-379 (1997)
   PUBMED   9191024
REFERENCE   6  (bases 1 to 2601)
  AUTHORS   Antonson,P. and Xanthopoulos,K.G.
  TITLE     Molecular cloning, sequence, and expression patterns of the human
            gene encoding CCAAT/enhancer binding protein alpha (C/EBP alpha)
  JOURNAL   Biochem Biophys Res Commun 215 (1), 106-113 (1995)
   PUBMED   7575576
REFERENCE   7  (bases 1 to 2601)
  AUTHORS   Lin,F.T., MacDougald,O.A., Diehl,A.M. and Lane,M.D.
  TITLE     A 30-kDa alternative translation product of the CCAAT/enhancer
            binding protein alpha message: transcriptional activator lacking
            antimitotic activity
  JOURNAL   Proc Natl Acad Sci U S A 90 (20), 9606-9610 (1993)
   PUBMED   8415748
  REMARK    GeneRIF: Demonstration of alternative translation initiation of the
            mouse ortholog
REFERENCE   8  (bases 1 to 2601)
  AUTHORS   Ossipow,V., Descombes,P. and Schibler,U.
  TITLE     CCAAT/enhancer-binding protein mRNA is translated into multiple
            proteins with different transcription activation potentials
  JOURNAL   Proc Natl Acad Sci U S A 90 (17), 8219-8223 (1993)
   PUBMED   8367486
REFERENCE   9  (bases 1 to 2601)
  AUTHORS   Tawana,K. and Fitzgibbon,J.
  TITLE     CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20963938
REFERENCE   10 (bases 1 to 2601)
  AUTHORS   Hendricks-Taylor,L.R., Bachinski,L.L., Siciliano,M.J., Fertitta,A.,
            Trask,B., de Jong,P.J., Ledbetter,D.H. and Darlington,G.J.
  TITLE     The CCAAT/enhancer binding protein (C/EBP alpha) gene (CEBPA) maps
            to human chromosome 19q13.1 and the related nuclear factor NF-IL6
            (C/EBP beta) gene (CEBPB) maps to human chromosome 20q13.1
  JOURNAL   Genomics 14 (1), 12-17 (1992)
   PUBMED   1427819
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008738.7.
            
            On Feb 27, 2020 this sequence version replaced NM_004364.4.
            
            Summary: This intronless gene encodes a transcription factor that
            contains a basic leucine zipper (bZIP) domain and recognizes the
            CCAAT motif in the promoters of target genes. The encoded protein
            functions in homodimers and also heterodimers with
            CCAAT/enhancer-binding proteins beta and gamma. Activity of this
            protein can modulate the expression of genes involved in cell cycle
            regulation as well as in body weight homeostasis. Mutation of this
            gene is associated with acute myeloid leukemia. The use of
            alternative in-frame non-AUG (GUG) and AUG start codons results in
            protein isoforms with different lengths. Differential translation
            initiation is mediated by an out-of-frame, upstream open reading
            frame which is located between the GUG and the first AUG start
            codons. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) can initiate translation from
            an upstream non-AUG (GUG) site, and also from three downstream,
            in-frame AUG sites. The isoform (a, also known as C/EBP-42)
            represented in this RefSeq results from translation initiation at
            the first AUG start codon. Isoform a has a shorter N-terminus,
            compared to isoform c.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 is intronless :: Y11525.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000498907.3/ ENSP00000427514.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            regulatory uORF        :: PMID: 10921906
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2601              AC008738.7         169053-171653       c
FEATURES             Location/Qualifiers
     source          1..2601
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..2601
                     /gene="CEBPA"
                     /gene_synonym="C/EBP-alpha; CEBP"
                     /note="CCAAT enhancer binding protein alpha"
                     /db_xref="GeneID:1050"
                     /db_xref="HGNC:HGNC:1833"
                     /db_xref="MIM:116897"
     exon            1..2601
                     /gene="CEBPA"
                     /gene_synonym="C/EBP-alpha; CEBP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      96..113
                     /regulatory_class="uORF"
                     /gene="CEBPA"
                     /gene_synonym="C/EBP-alpha; CEBP"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:10921906]"
                     /note="this uORF is predicted to encode a 5 aa peptide
                     (PMID:10921906)"
     CDS             121..1197
                     /gene="CEBPA"
                     /gene_synonym="C/EBP-alpha; CEBP"
                     /note="isoform a is encoded by transcript variant 1;
                     CCAAT/enhancer binding protein (C/EBP), alpha"
                     /codon_start=1
                     /product="CCAAT/enhancer-binding protein alpha isoform a"
                     /protein_id="NP_004355.2"
                     /db_xref="CCDS:CCDS54243.1"
                     /db_xref="GeneID:1050"
                     /db_xref="HGNC:HGNC:1833"
                     /db_xref="MIM:116897"
                     /translation="MESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPA
                     PPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAAVGPTGGGG
                     GGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVI
                     KQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPAHLAAPHLQFQIAHCGQTTM
                     HLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKK
                     SVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRE
                     LDTLRGIFRQLPESSLVKAMGNCA"
     regulatory      2582..2587
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEBPA"
                     /gene_synonym="C/EBP-alpha; CEBP"
                     /note="hexamer: TATAAA"
     polyA_site      2601
                     /gene="CEBPA"
                     /gene_synonym="C/EBP-alpha; CEBP"
                     /note="major polyA site"
ORIGIN      
        1 attcgcgacc cggaggtgcg cgggcgcggg cgagcagggt ctccgggtgg gcggcggcga
       61 cgccccgcgc aggctggagg ccgccgaggc tcgccatgcc gggagaactc taactccccc
      121 atggagtcgg ccgacttcta cgaggcggag ccgcggcccc cgatgagcag ccacctgcag
      181 agccccccgc acgcgcccag cagcgccgcc ttcggctttc cccggggcgc gggccccgcg
      241 cagcctcccg ccccacctgc cgccccggag ccgctgggcg gcatctgcga gcacgagacg
      301 tccatcgaca tcagcgccta catcgacccg gccgccttca acgacgagtt cctggccgac
      361 ctgttccagc acagccggca gcaggagaag gccaaggcgg ccgtgggccc cacgggcggc
      421 ggcggcggcg gcgactttga ctacccgggc gcgcccgcgg gccccggcgg cgccgtcatg
      481 cccgggggag cgcacgggcc cccgcccggc tacggctgcg cggccgccgg ctacctggac
      541 ggcaggctgg agcccctgta cgagcgcgtc ggggcgccgg cgctgcggcc gctggtgatc
      601 aagcaggagc cccgcgagga ggatgaagcc aagcagctgg cgctggccgg cctcttccct
      661 taccagccgc cgccgccgcc gccgccctcg cacccgcacc cgcacccgcc gcccgcgcac
      721 ctggccgccc cgcacctgca gttccagatc gcgcactgcg gccagaccac catgcacctg
      781 cagcccggtc accccacgcc gccgcccacg cccgtgccca gcccgcaccc cgcgcccgcg
      841 ctcggtgccg ccggcctgcc gggccctggc agcgcgctca aggggctggg cgccgcgcac
      901 cccgacctcc gcgcgagtgg cggcagcggc gcgggcaagg ccaagaagtc ggtggacaag
      961 aacagcaacg agtaccgggt gcggcgcgag cgcaacaaca tcgcggtgcg caagagccgc
     1021 gacaaggcca agcagcgcaa cgtggagacg cagcagaagg tgctggagct gaccagtgac
     1081 aatgaccgcc tgcgcaagcg ggtggaacag ctgagccgcg aactggacac gctgcggggc
     1141 atcttccgcc agctgccaga gagctccttg gtcaaggcca tgggcaactg cgcgtgaggc
     1201 gcgcggctgt gggaccgccc tgggccagcc tccggcgggg acccagggag tggtttgggg
     1261 tcgccggatc tcgaggcttg cccgagccgt gcgagccagg actaggagat tccggtgcct
     1321 cctgaaagcc tggcctgctc cgcgtgtccc ctcccttcct ctgcgccgga cttggtgcgt
     1381 ctaagatgag ggggccaggc ggtggcttct ccctgcgagg aggggagaat tcttggggct
     1441 gagctgggag cccggcaact ctagtattta ggataacctt gtgccttgga aatgcaaact
     1501 caccgctcca atgcctactg agtaggggga gcaaatcgtg ccttgtcatt ttatttggag
     1561 gtttcctgcc tccttcccga ggctacagca gacccccatg agagaaggag gggagcaggc
     1621 ccgtggcagg aggagggctc agggagctga gatcccgaca agcccgccag ccccagccgc
     1681 tcctccacgc ctgtccttag aaaggggtgg aaacataggg acttggggct tggaacctaa
     1741 ggttgttccc ctagttctac atgaaggtgg agggtctcta gttccacgcc tctcccacct
     1801 ccctccgcac acaccccacc ccagcctgct ataggctggg cttccccttg gggcggaact
     1861 cactgcgatg ggggtcacca ggtgaccagt gggagccccc accccgagtc acaccagaaa
     1921 gctaggtcgt gggtcagctc tgaggatgta tacccctggt gggagaggga gacctagaga
     1981 tctggctgtg gggcgggcat ggggggtgaa gggccactgg gaccctcagc cttgtttgta
     2041 ctgtatgcct tcagcattgc ctaggaacac gaagcacgat cagtccatcc cagagggacc
     2101 ggagttatga caagctttcc aaatattttg ctttatcagc cgatatcaac acttgtatct
     2161 ggcctctgtg ccccagcagt gccttgtgca atgtgaatgt gcgcgtctct gctaaaccac
     2221 cattttattt ggtttttgtt ttgttttggt tttgctcgga tacttgccaa aatgagactc
     2281 tccgtcggca gctgggggaa gggtctgaga ctccctttcc ttttggtttt gggattactt
     2341 ttgatcctgg gggaccaatg aggtgagggg ggttctcctt tgccctcagc tttccccagc
     2401 ccctccggcc tgggctgccc acaaggcttg tcccccagag gccctggctc ctggtcggga
     2461 agggaggtgg cctcccgcca acgcatcact ggggctggga gcagggaagg acggcttggt
     2521 tctcttcttt tggggagaac gtagagtctc actctagatg ttttatgtat tatatctata
     2581 atataaacat atcaaagtca a
//
