LOCUS       NM_001805               1191 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens CCAAT enhancer binding protein epsilon (CEBPE), mRNA.
ACCESSION   NM_001805
VERSION     NM_001805.4
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 1191)
  AUTHORS   Al-Zayan,N.R., Ashour,M.J., Abuwarda,H.N. and Sharif,F.A.
  TITLE     ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and
            predisposition to childhood acute lymphoblastic leukemia
  JOURNAL   Pediatr Hematol Oncol 41 (2), 103-113 (2024)
   PUBMED   37578068
  REMARK    GeneRIF: ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline
            polymorphisms and predisposition to childhood acute lymphoblastic
            leukemia.
REFERENCE   2  (bases 1 to 1191)
  AUTHORS   Aref,S., El-Ghonemy,M., Shimaa,H., Darwish,A., Abdelmabood,S. and
            Khaled,N.
  TITLE     Significance of CEBPE Gene Promoter Polymorphism (Rs2239630 G > A)
            Assessment in Childhood B-cell Acute Lymphoblastic Leukemia
  JOURNAL   J Pediatr Hematol Oncol 45 (3), e334-e338 (2023)
   PUBMED   36897378
  REMARK    GeneRIF: Significance of CEBPE Gene Promoter Polymorphism
            (Rs2239630 G > A) Assessment in Childhood B-cell Acute
            Lymphoblastic Leukemia.
REFERENCE   3  (bases 1 to 1191)
  AUTHORS   Liu,J., Weiling,G., Xueqin,L., Liang,X., Linhong,W. and Zhongwen,C.
  TITLE     The CEBPE rs2239633 genetic polymorphism on susceptibility to
            childhood acute lymphoblastic leukemia: an updated meta-analysis
  JOURNAL   Environ Health Prev Med 26 (1), 2 (2021)
   PUBMED   33397280
  REMARK    GeneRIF: The CEBPE rs2239633 genetic polymorphism on susceptibility
            to childhood acute lymphoblastic leukemia: an updated
            meta-analysis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1191)
  AUTHORS   Miller,J.B., Ward,E., Staley,L.A., Stevens,J., Teerlink,C.C.,
            Tavana,J.P., Cloward,M., Page,M., Dayton,L., Cannon-Albright,L.A.
            and Kauwe,J.S.K.
  CONSRTM   Alzheimer's Disease Genetics Consortium
  TITLE     Identification and genomic analysis of pedigrees with exceptional
            longevity identifies candidate rare variants
  JOURNAL   Neurobiol Dis 143, 104972 (2020)
   PUBMED   32574725
  REMARK    GeneRIF: Identification and genomic analysis of pedigrees with
            exceptional longevity identifies candidate rare variants.
REFERENCE   5  (bases 1 to 1191)
  AUTHORS   Ishii,H., Park,W.Y., So,J., Kuhn,S., Koparde,V.N., Pang,Y.,
            Greten,T.F., Hollander,M.C. and Yang,L.
  TITLE     Loss of myeloid-specific lamin A/C drives lung metastasis through
            Gfi-1 and C/EBPepsilon-mediated granulocytic differentiation
  JOURNAL   Mol Carcinog 59 (7), 679-690 (2020)
   PUBMED   31912614
  REMARK    GeneRIF: Loss of myeloid-specific lamin A/C drives lung metastasis
            through Gfi-1 and C/EBPepsilon-mediated granulocytic
            differentiation.
REFERENCE   6  (bases 1 to 1191)
  AUTHORS   Verbeek,W., Gombart,A.F., Chumakov,A.M., Muller,C., Friedman,A.D.
            and Koeffler,H.P.
  TITLE     C/EBPepsilon directly interacts with the DNA binding domain of
            c-myb and cooperatively activates transcription of myeloid
            promoters
  JOURNAL   Blood 93 (10), 3327-3337 (1999)
   PUBMED   10233885
REFERENCE   7  (bases 1 to 1191)
  AUTHORS   Yamanaka,R., Kim,G.D., Radomska,H.S., Lekstrom-Himes,J.,
            Smith,L.T., Antonson,P., Tenen,D.G. and Xanthopoulos,K.G.
  TITLE     CCAAT/enhancer binding protein epsilon is preferentially
            up-regulated during granulocytic differentiation and its functional
            versatility is determined by alternative use of promoters and
            differential splicing
  JOURNAL   Proc Natl Acad Sci U S A 94 (12), 6462-6467 (1997)
   PUBMED   9177240
REFERENCE   8  (bases 1 to 1191)
  AUTHORS   Chumakov,A.M., Grillier,I., Chumakova,E., Chih,D., Slater,J. and
            Koeffler,H.P.
  TITLE     Cloning of the novel human myeloid-cell-specific C/EBP-epsilon
            transcription factor
  JOURNAL   Mol Cell Biol 17 (3), 1375-1386 (1997)
   PUBMED   9032264
REFERENCE   9  (bases 1 to 1191)
  AUTHORS   Antonson,P., Stellan,B., Yamanaka,R. and Xanthopoulos,K.G.
  TITLE     A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is
            expressed in cells of lymphoid and myeloid lineages and is
            localized on chromosome 14q11.2 close to the T-cell receptor
            alpha/delta locus
  JOURNAL   Genomics 35 (1), 30-38 (1996)
   PUBMED   8661101
REFERENCE   10 (bases 1 to 1191)
  AUTHORS   Williams,S.C., Cantwell,C.A. and Johnson,P.F.
  TITLE     A family of C/EBP-related proteins capable of forming covalently
            linked leucine zipper dimers in vitro
  JOURNAL   Genes Dev 5 (9), 1553-1567 (1991)
   PUBMED   1884998
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL117258.4 and BC035797.1.
            
            On Mar 20, 2020 this sequence version replaced NM_001805.3.
            
            Summary: The protein encoded by this gene is a bZIP transcription
            factor which can bind as a homodimer to certain DNA regulatory
            regions. It can also form heterodimers with the related protein
            CEBP-delta. The encoded protein may be essential for terminal
            differentiation and functional maturation of committed granulocyte
            progenitor cells. Mutations in this gene have been associated with
            Specific Granule Deficiency, a rare congenital disorder. Multiple
            variants of this gene have been described, but the full-length
            nature of only one has been determined. [provided by RefSeq, Jul
            2008].
            
            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 :: BC035797.1, U48866.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000206513.6/ ENSP00000206513.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-61                AL117258.4         125826-125886
            62-1191             BC035797.1         1-1130
FEATURES             Location/Qualifiers
     source          1..1191
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1191
                     /gene="CEBPE"
                     /gene_synonym="c/EBP epsilon; C/EBP-epsilon; CRP1; IMD108;
                     SGD1"
                     /note="CCAAT enhancer binding protein epsilon"
                     /db_xref="GeneID:1053"
                     /db_xref="HGNC:HGNC:1836"
                     /db_xref="MIM:600749"
     exon            1..674
                     /gene="CEBPE"
                     /gene_synonym="c/EBP epsilon; C/EBP-epsilon; CRP1; IMD108;
                     SGD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             165..1010
                     /gene="CEBPE"
                     /gene_synonym="c/EBP epsilon; C/EBP-epsilon; CRP1; IMD108;
                     SGD1"
                     /note="CCAAT/enhancer binding protein (C/EBP), epsilon"
                     /codon_start=1
                     /product="CCAAT/enhancer-binding protein epsilon"
                     /protein_id="NP_001796.2"
                     /db_xref="CCDS:CCDS9589.1"
                     /db_xref="GeneID:1053"
                     /db_xref="HGNC:HGNC:1836"
                     /db_xref="MIM:600749"
                     /translation="MSHGTYYECEPRGGQQPLEFSGGRAGPGELGDMCEHEASIDLSA
                     YIESGEEQLLSDLFAVKPAPEARGLKGPGTPAFPHYLPPDPRPFAYPPHTFGPDRKAL
                     GPGIYSSPGSYDPRAVAVKEEPRGPEGSRAASRGSYNPLQYQVAHCGQTAMHLPPTLA
                     APGQPLRVLKAPLATAAPPCSPLLKAPSPAGPLHKGKKAVNKDSLEYRLRRERNNIAV
                     RKSRDKAKRRILETQQKVLEYMAENERLRSRVEQLTQELDTLRNLFRQIPEAANLIKG
                     VGGCS"
     exon            675..1191
                     /gene="CEBPE"
                     /gene_synonym="c/EBP epsilon; C/EBP-epsilon; CRP1; IMD108;
                     SGD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1169..1174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEBPE"
                     /gene_synonym="c/EBP epsilon; C/EBP-epsilon; CRP1; IMD108;
                     SGD1"
                     /note="hexamer: AATAAA"
     polyA_site      1191
                     /gene="CEBPE"
                     /gene_synonym="c/EBP epsilon; C/EBP-epsilon; CRP1; IMD108;
                     SGD1"
                     /note="major polyA site"
ORIGIN      
        1 acacaggagt gggtgacaga ggagactgca gagggcaggt ctagggcaga agatcgagag
       61 agggcaggcc caggtcagga ggaggtagag agagggcagc cggagcaccc caaggggtgc
      121 ctcaagagca ggtgggggcg gggagccgag ggggcgggcc ggccatgtcc cacgggacct
      181 actacgagtg tgagccccgg ggtggccagc agccactcga gttctcaggg ggccgagctg
      241 ggcccgggga gctaggggac atgtgtgagc atgaggcctc cattgacctc tccgcctaca
      301 tcgagtctgg ggaagagcag cttctctccg atctctttgc cgtgaagcca gcgcctgagg
      361 ccagaggcct caagggcccc ggaacccctg ccttccccca ctacttgccg cctgaccctc
      421 ggccctttgc ctaccctcca cataccttcg gcccagacag gaaggcgctg gggcctggca
      481 tctacagcag cccagggagc tacgacccca gggctgtggc ggtgaaggag gagccccggg
      541 ggccagaggg cagccgagct gccagccgag gcagctacaa tcccctgcag taccaagtgg
      601 cacactgtgg gcagacagcc atgcacctgc ccccaactct ggcagcaccc ggccagcctc
      661 tgcgcgttct caaggcccct ttggccactg ccgcaccccc ctgcagtccc ctcctgaagg
      721 cgccctcccc ggctggcccc ttacacaagg gcaagaaggc agtgaacaaa gatagccttg
      781 agtaccggct gaggcgggag cgcaacaaca tcgccgtgcg caagagccga gacaaggcca
      841 agaggcgcat tctggagacg cagcagaagg tgctggagta catggcagag aacgagcgcc
      901 tccgcagccg cgtggagcag ctcacccagg agctagacac cctccgcaac ctcttccgcc
      961 agattcctga ggcggccaac ctcatcaagg gcgtgggggg ttgcagctga ggctggctgg
     1021 tggattgtgg gcaccaggct ccctggcacg gcctaactct gcggaccccc atcctgctgg
     1081 gggcctagaa ccctgagaca tagaccatgg ataaatggca accggggtgg caaagagggc
     1141 aggacccagc ataatgatta tatggctgaa taaagttgca ctgtgactgg g
//
