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Homo sapiens cyclin dependent kinase 2 associated protein 1 (CDK2AP1), transcript variant 3, mRNA

NCBI Reference Sequence: NM_001270434.2

FASTA Graphics 

LOCUS       NM_001270434            1202 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens cyclin dependent kinase 2 associated protein 1
            (CDK2AP1), transcript variant 3, mRNA.
ACCESSION   NM_001270434
VERSION     NM_001270434.2
KEYWORDS    RefSeq.
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 1202)
  AUTHORS   Stabile,R., Cabezas,M.R., Verhagen,M.P., Tucci,F.A., van den
            Bosch,T.P.P., De Herdt,M.J., van der Steen,B., Nigg,A.L., Chen,M.,
            Ivan,C., Shimizu,M., Koljenovic,S., Hardillo,J.A., Verrijzer,C.P.,
            Baatenburg de Jong,R.J., Calin,G.A. and Fodde,R.
  TITLE     The deleted in oral cancer (DOC1 aka CDK2AP1) tumor suppressor gene
            is downregulated in oral squamous cell carcinoma by multiple
            microRNAs
  JOURNAL   Cell Death Dis 14 (5), 337 (2023)
   PUBMED   37217493
  REMARK    GeneRIF: The deleted in oral cancer (DOC1 aka CDK2AP1) tumor
            suppressor gene is downregulated in oral squamous cell carcinoma by
            multiple microRNAs.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1202)
  AUTHORS   Gamallat,Y., Bakker,A., Khosh Kish,E., Choudhry,M., Walker,S.,
            Aldakheel,S., Seyedi,S., Huang,K.C., Ghosh,S., Gotto,G. and
            Bismar,T.A.
  TITLE     The Association between Cyclin Dependent Kinase 2 Associated
            Protein 1 (CDK2AP1) and Molecular Subtypes of Lethal Prostate
            Cancer
  JOURNAL   Int J Mol Sci 23 (21), 13326 (2022)
   PUBMED   36362115
  REMARK    GeneRIF: The Association between Cyclin Dependent Kinase 2
            Associated Protein 1 (CDK2AP1) and Molecular Subtypes of Lethal
            Prostate Cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1202)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1202)
  AUTHORS   Spruijt,C.G., Grawe,C., Kleinendorst,S.C., Baltissen,M.P.A. and
            Vermeulen,M.
  TITLE     Cross-linking mass spectrometry reveals the structural topology of
            peripheral NuRD subunits relative to the core complex
  JOURNAL   FEBS J 288 (10), 3231-3245 (2021)
   PUBMED   33283408
REFERENCE   5  (bases 1 to 1202)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 1202)
  AUTHORS   Shintani,S., Ohyama,H., Zhang,X., McBride,J., Matsuo,K., Tsuji,T.,
            Hu,M.G., Hu,G., Kohno,Y., Lerman,M., Todd,R. and Wong,D.T.
  TITLE     p12(DOC-1) is a novel cyclin-dependent kinase 2-associated protein
  JOURNAL   Mol Cell Biol 20 (17), 6300-6307 (2000)
   PUBMED   10938106
REFERENCE   7  (bases 1 to 1202)
  AUTHORS   Matsuo,K., Shintani,S., Tsuji,T., Nagata,E., Lerman,M., McBride,J.,
            Nakahara,Y., Ohyama,H., Todd,R. and Wong,D.T.
  TITLE     p12(DOC-1), a growth suppressor, associates with DNA polymerase
            alpha/primase
  JOURNAL   FASEB J 14 (10), 1318-1324 (2000)
   PUBMED   10877824
REFERENCE   8  (bases 1 to 1202)
  AUTHORS   Tsuji,T., Duh,F.M., Latif,F., Popescu,N.C., Zimonjic,D.B.,
            McBride,J., Matsuo,K., Ohyama,H., Todd,R., Nagata,E., Terakado,N.,
            Sasaki,A., Matsumura,T., Lerman,M.I. and Wong,D.T.
  TITLE     Cloning, mapping, expression, function, and mutation analyses of
            the human ortholog of the hamster putative tumor suppressor gene
            Doc-1
  JOURNAL   J Biol Chem 273 (12), 6704-6709 (1998)
   PUBMED   9506968
REFERENCE   9  (bases 1 to 1202)
  AUTHORS   Daigo,Y., Suzuki,K., Maruyama,O., Miyoshi,Y., Yasuda,T., Kabuto,T.,
            Imaoka,S., Fujiwara,T., Takahashi,E., Fujino,M.A. and Nakamura,Y.
  TITLE     Isolation, mapping and mutation analysis of a human cDNA homologous
            to the doc-1 gene of the Chinese hamster, a candidate tumor
            suppressor for oral cancer
  JOURNAL   Genes Chromosomes Cancer 20 (2), 204-207 (1997)
   PUBMED   9331572
REFERENCE   10 (bases 1 to 1202)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068768.31, AA295789.1,
            N41298.1, AF006484.1 and AA477326.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001270434.1.
            
            Summary: The protein encoded by this gene is a cyclin-dependent
            kinase 2 (CDK2) -associated protein which is thought to negatively
            regulate CDK2 activity by sequestering monomeric CDK2, and
            targeting CDK2 for proteolysis. This protein was found to also
            interact with DNA polymerase alpha/primase and mediate the
            phosphorylation of the large p180 subunit, which suggests a
            regulatory role in DNA replication during the S-phase of the cell
            cycle. This protein also forms a core subunit of the nucleosome
            remodeling and histone deacetylation (NURD) complex that
            epigenetically regulates embryonic stem cell differentiation. This
            gene thus plays a role in both cell-cycle and epigenetic
            regulation. Alternative splicing results in multiple transcript
            variants encoding distinct isoforms. [provided by RefSeq, Jul
            2012].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding region and represents the use of an alternate promoter,
            compared to variant 1. This difference results in the use of an
            in-frame downstream start codon and a protein (isoform 2) with a
            shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode
            the same protein (isoform 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 :: SRR18074968.2150499.1,
                                           SRR14038197.646713.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                AC068768.31        54950-55012
            64-91               AA295789.1         31-58
            92-96               N41298.1           28-32
            97-157              AA295789.1         64-124
            158-1180            AF006484.1         586-1608
            1181-1202           AA477326.1         26-47               c
FEATURES             Location/Qualifiers
     source          1..1202
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1202
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="cyclin dependent kinase 2 associated protein 1"
                     /db_xref="GeneID:8099"
                     /db_xref="HGNC:HGNC:14002"
                     /db_xref="MIM:602198"
     exon            1..149
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /inference="alignment:Splign:2.1.0"
     exon            150..247
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..442
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="isoform 2 is encoded by transcript variant 3;
                     Deleted in oral cancer-1; CDK2-associated protein 1;
                     putative oral cancer suppressor; deleted in oral cancer 1"
                     /codon_start=1
                     /product="cyclin-dependent kinase 2-associated protein 1
                     isoform 2"
                     /protein_id="NP_001257363.1"
                     /db_xref="CCDS:CCDS58289.1"
                     /db_xref="GeneID:8099"
                     /db_xref="HGNC:HGNC:14002"
                     /db_xref="MIM:602198"
                     /translation="MATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSKYAELLAIIEE
                     LGKEIRPTYAGSKSAMERLKRGIIHARGLVRECLAETERNARS"
     exon            248..374
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /inference="alignment:Splign:2.1.0"
     exon            375..1202
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1152..1157
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="hexamer: AATAAA"
     polyA_site      1175
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="major polyA site"
     regulatory      1181..1186
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="hexamer: ATTAAA"
     polyA_site      1202
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="major polyA site"
ORIGIN      
        1 acccacacca agcgagcagc tggtgggttt ggccagcctg gcaccagctg tctgtccccg
       61 aggccaagtc tgcggcgccc actgtgtgtg tgagagagag accgtgtggc tctgggggcg
      121 gcaggcgggc agctgccgag gaggactagc tgggagtgtc cactcgcctt ccaccagcat
      181 ggcaacgtct tcacagtacc gccagctgct cagtgactac gggccaccgt ccctaggcta
      241 cacccaggga actgggaaca gccaggtgcc ccaaagcaaa tacgcggagc tgctggccat
      301 cattgaagag ctggggaagg agatcagacc cacgtacgca gggagcaaga gtgccatgga
      361 gaggctgaag cgcggcatca ttcacgctag aggactggtt cgggagtgct tggcagaaac
      421 ggaacggaat gccagatcct agctgccttg ttggttttga aggatttcca tctttttaca
      481 agatgagaag ttacagttca tctcccctgt tcagatgaaa cccttgtttt caaaatggtt
      541 acagtttcgt ttttcctccc atggttcact tggctctgaa cctacagtct caaagattga
      601 gaaaagattt tgcagttaat taggatttgc attttaagta gttaggaact gcccaggttt
      661 tttttgtttt ttaagcattg atttaaaaga tgcacggaaa gttatcttac agcaaactgt
      721 agtttgcctc caagacacca ttgtctccct ttaatcttct cttttgtata catttgttac
      781 ccatggtgtt ctttgttcct tttcataagc taataccact gtagggattt tgttttgaac
      841 gcatattgac agcacgcttt acttagtagc cggttcccat ttgccataca atgtaggttc
      901 tgcttaatgt aacttctttt ttgcttaagc atttgcatga ctattagtgc ttcaaagtca
      961 atttttaaaa atgcacaagt tataaataca gaagaaagag caacccacca aacctaacaa
     1021 ggacccccga acactttcat actaagactg taagtagatc tcagttctgc gtttattgta
     1081 agttgataaa aacatctgga agaaaatgac taaaactgtt tgcatctttg tatgtattta
     1141 ttacttgatg taataaagct tattttcatt aacaatttgt attaaaatgt gggttccttg
     1201 aa
//
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