LOCUS       NM_006324               1293 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens craniofacial development protein 1 (CFDP1), mRNA.
ACCESSION   NM_006324
VERSION     NM_006324.3
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 1293)
  AUTHORS   Zhou,Y., Qiu,J., Liu,S., Wang,P., Ma,D., Zhang,G., Cao,Y., Hu,L.,
            Wang,Z., Wu,J. and Jiang,C.
  TITLE     CFDP1 promotes hepatocellular carcinoma progression through
            activating NEDD4/PTEN/PI3K/AKT signaling pathway
  JOURNAL   Cancer Med 12 (1), 425-444 (2023)
   PUBMED   35861040
  REMARK    GeneRIF: CFDP1 promotes hepatocellular carcinoma progression
            through activating NEDD4/PTEN/PI3K/AKT signaling pathway.
REFERENCE   2  (bases 1 to 1293)
  AUTHORS   Formicola,D., Lasorsa,V.A., Cantalupo,S., Testori,A., Cardinale,A.,
            Avitabile,M., Diskin,S., Iolascon,A. and Capasso,M.
  TITLE     CFDP1 is a neuroblastoma susceptibility gene that regulates
            transcription factors of the noradrenergic cell identity
  JOURNAL   HGG Adv 4 (1), 100158 (2022)
   PUBMED   36425957
  REMARK    GeneRIF: CFDP1 is a neuroblastoma susceptibility gene that
            regulates transcription factors of the noradrenergic cell identity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1293)
  AUTHORS   Messina,G., Atterrato,M.T., Prozzillo,Y., Piacentini,L., Losada,A.
            and Dimitri,P.
  TITLE     The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes
            a protein required for the maintenance of higher-order chromatin
            organization
  JOURNAL   Sci Rep 7, 45022 (2017)
   PUBMED   28367969
  REMARK    GeneRIF: Our findings provide new insight into the chromatin
            functions and mechanisms of the CFDP1 protein and contribute to our
            understanding of the link between epigenetic regulation and the
            onset of human complex developmental disorders.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1293)
  AUTHORS   Messina,G., Atterrato,M.T., Fanti,L., Giordano,E. and Dimitri,P.
  TITLE     Expression of human Cfdp1 gene in Drosophila reveals new insights
            into the function of the evolutionarily conserved BCNT protein
            family
  JOURNAL   Sci Rep 6, 25511 (2016)
   PUBMED   27151176
  REMARK    GeneRIF: Overall, these findings highlight unanticipated evidences
            suggesting that homodimerization mediated by the BCNT domain is
            integral to the chromatin functions of BCNT proteins.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1293)
  AUTHORS   Iwashita,S., Suzuki,T., Yasuda,T., Nakashima,K., Sakamoto,T.,
            Kohno,T., Takahashi,I., Kobayashi,T., Ohno-Iwashita,Y.,
            Imajoh-Ohmi,S., Song,S.Y. and Dohmae,N.
  TITLE     Mammalian Bcnt/Cfdp1, a potential epigenetic factor characterized
            by an acidic stretch in the disordered N-terminal and Ser250
            phosphorylation in the conserved C-terminal regions
  JOURNAL   Biosci Rep 35 (4), e00228 (2015)
   PUBMED   26182435
  REMARK    GeneRIF: Bcnt/Cfdp1 is acetylated in vitro by CREB-binding protein
            (CBP) and four lysine residues including Lys(268) in BCNT-C are
            also acetylated in vivo, revealing a protein regulated at multiple
            levels.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1293)
  AUTHORS   Iwashita,S.
  TITLE     [A novel type protein, Bcnt, that includes the region derived from
            a long interspersed nucleotide element]
  JOURNAL   Seikagaku 73 (12), 1435-1438 (2001)
   PUBMED   11831036
  REMARK    GeneRIF: includes the region derived from a long interspersed
            nucleotide
            Review article
REFERENCE   7  (bases 1 to 1293)
  AUTHORS   Diekwisch,T.G., Marches,F., Williams,A. and Luan,X.
  TITLE     Cloning, gene expression, and characterization of CP27, a novel
            gene in mouse embryogenesis
  JOURNAL   Gene 235 (1-2), 19-30 (1999)
   PUBMED   10415329
REFERENCE   8  (bases 1 to 1293)
  AUTHORS   Iwashita,S., Nobukuni,T., Tanaka,S., Kobayashi,M., Iwanaga,T.,
            Tamate,H.B., Masui,T., Takahashi,I. and Hashimoto,K.
  TITLE     Partial nuclear localization of a bovine phosphoprotein, BCNT, that
            includes a region derived from a LINE repetitive sequence in
            Ruminantia
  JOURNAL   Biochim Biophys Acta 1427 (3), 408-416 (1999)
   PUBMED   10350657
REFERENCE   9  (bases 1 to 1293)
  AUTHORS   Takahashi,I., Nobukuni,T., Ohmori,H., Kobayashi,M., Tanaka,S.,
            Ohshima,K., Okada,N., Masui,T., Hashimoto,K. and Iwashita,S.
  TITLE     Existence of a bovine LINE repetitive insert that appears in the
            cDNA of bovine protein BCNT in ruminant, but not in human, genomes
  JOURNAL   Gene 211 (2), 387-394 (1998)
   PUBMED   9602175
REFERENCE   10 (bases 1 to 1293)
  AUTHORS   Nobukuni,T., Kobayashi,M., Omori,A., Ichinose,S., Iwanaga,T.,
            Takahashi,I., Hashimoto,K., Hattori,S., Kaibuchi,K., Miyata,Y.,
            Masui,T. and Iwashita,S.
  TITLE     An Alu-linked repetitive sequence corresponding to 280 amino acids
            is expressed in a novel bovine protein, but not in its human
            homologue
  JOURNAL   J Biol Chem 272 (5), 2801-2807 (1997)
   PUBMED   9006920
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009163.6, AW160432.1, D86549.1 and BC000991.2.
            
            On Nov 23, 2018 this sequence version replaced NM_006324.2.
            
            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 :: SRR5189667.50856.1,
                                           SRR5189667.197467.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283882.4/ ENSP00000283882.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AC009163.6         47775-47788         c
            15-535              AW160432.1         5-525
            536-1280            D86549.1           321-1065
            1281-1293           BC000991.2         1263-1275
FEATURES             Location/Qualifiers
     source          1..1293
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     gene            1..1293
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /note="craniofacial development protein 1"
                     /db_xref="GeneID:10428"
                     /db_xref="HGNC:HGNC:1873"
                     /db_xref="MIM:608108"
     exon            1..215
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /inference="alignment:Splign:2.1.0"
     CDS             152..1051
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /note="phosphoprotein (Bucentaur); centromere protein 29"
                     /codon_start=1
                     /product="craniofacial development protein 1"
                     /protein_id="NP_006315.1"
                     /db_xref="CCDS:CCDS10916.1"
                     /db_xref="GeneID:10428"
                     /db_xref="HGNC:HGNC:1873"
                     /db_xref="MIM:608108"
                     /translation="MEEFDSEDFSTSEEDEDYVPSGGEYSEDDVNELVKEDEVDGEEQ
                     TQKTQGKKRKAQSIPARKRRQGGLSLEEEEEEDANSESEGSSSEEEDDAAEQEKGIGS
                     EDARKKKEDELWASFLNDVGPKSKVPPSTQVKKGEETEETSSSKLLVKAEELEKPKET
                     EKVKITKVFDFAGEEVRVTKEVDATSKEAKSFFKQNEKEKPQANVPSALPSLPAGSGL
                     KRSSGMSSLLGKIGAKKQKMSTLEKSKLDWESFKEEEGIGEELAIHNRGKEGYIERKA
                     FLDRVDHRQFEIERDLRLSKMKP"
     exon            216..333
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /inference="alignment:Splign:2.1.0"
     exon            334..553
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /inference="alignment:Splign:2.1.0"
     exon            554..681
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /inference="alignment:Splign:2.1.0"
     exon            682..801
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /inference="alignment:Splign:2.1.0"
     exon            802..960
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1293
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1257..1262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /note="hexamer: AATAAA"
     polyA_site      1293
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /note="major polyA site"
ORIGIN      
        1 gtagtactct ctgcgcatgt gcaaagcgct gtcgggggcc gccctagctg ccgtcgccgc
       61 cgccggggct ctatggtctc tccctagagc tttgccgttg gaggcggctg ctgcggtctt
      121 gtgagtttga ccagcgtcga gcggcagcaa catggaggaa ttcgactccg aagacttctc
      181 tacgtcggag gaggacgagg actacgtgcc gtcgggtgga gagtatagtg aagatgatgt
      241 aaatgaatta gtgaaggaag atgaagtgga tggtgaagag cagacacaga aaacccaagg
      301 gaaaaaaaga aaggcccaga gcattccagc caggaagaga agacaaggtg gcctctcatt
      361 agaagaagag gaagaggagg atgccaattc agaatctgag ggaagcagta gtgaggagga
      421 agatgacgct gcagagcagg aaaaaggcat tggatcagag gatgccagga aaaagaagga
      481 ggacgaactc tgggccagct tcctcaatga tgtgggacca aaatcaaaag tgcccccaag
      541 tacacaagtt aagaaaggag aggagactga agagacaagt tcaagtaaat tgttggtaaa
      601 agcagaagag ctagagaaac ctaaagaaac agaaaaagtt aaaatcacca aggtgtttga
      661 ttttgctggt gaagaagtaa gggtaactaa ggaagtggat gctacatcta aagaggccaa
      721 atccttcttc aagcagaatg agaaagaaaa accacaggct aatgttcctt cagctctgcc
      781 atcactccct gccgggtcag ggttaaaaag atcaagtggc atgagcagcc ttttggggaa
      841 aattggtgcc aagaagcaga aaatgagcac ccttgagaag tccaaactgg actgggagag
      901 cttcaaggag gaagagggga ttggtgaaga actggccatc cataatcgag ggaaagaggg
      961 gtacattgaa cggaaagcct tccttgaccg agtggatcac aggcagtttg aaattgagcg
     1021 agatctcagg ctgagcaaaa tgaaaccttg atgttacggg ctaaatcaag agcagcttaa
     1081 tcctgtttac aatgtgagct ttttgtgcgt ctgtgaaatg ttttacagtg tttctcatca
     1141 tctgtttccc agcaaggtct tttttttttc tacattgaag ttctgtctat gtatcttaat
     1201 cacaaatggt ttcattcact ttacttttaa aaatttgtcc ttaaatgaat aaataaaata
     1261 aaagttggtc ctgtgagagg ataatgaaga tga
//
