LOCUS       NM_004642               1346 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cyclin dependent kinase 2 associated protein 1
            (CDK2AP1), transcript variant 1, mRNA.
ACCESSION   NM_004642
VERSION     NM_004642.4
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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 AF006484.1 and AA477326.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004642.3.
            
            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 (1) represents the longest
            transcript and encodes the longer protein (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 :: SRR1163655.443845.1,
                                           SRR1163655.234279.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2153980
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261692.7/ ENSP00000261692.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1324              AF006484.1         285-1608
            1325-1346           AA477326.1         26-47               c
FEATURES             Location/Qualifiers
     source          1..1346
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1346
                     /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..293
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /inference="alignment:Splign:2.1.0"
     CDS             239..586
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_004633.1"
                     /db_xref="CCDS:CCDS9245.1"
                     /db_xref="GeneID:8099"
                     /db_xref="HGNC:HGNC:14002"
                     /db_xref="MIM:602198"
                     /translation="MSYKPNLAAHMPAAALNAAGSVHSPSTSMATSSQYRQLLSDYGP
                     PSLGYTQGTGNSQVPQSKYAELLAIIEELGKEIRPTYAGSKSAMERLKRGIIHARGLV
                     RECLAETERNARS"
     exon            294..391
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /inference="alignment:Splign:2.1.0"
     exon            392..518
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /inference="alignment:Splign:2.1.0"
     exon            519..1346
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1296..1301
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="hexamer: AATAAA"
     polyA_site      1319
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="major polyA site"
     regulatory      1325..1330
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="hexamer: ATTAAA"
     polyA_site      1346
                     /gene="CDK2AP1"
                     /gene_synonym="doc-1; DOC1; DORC1; p12DOC-1; ST19"
                     /note="major polyA site"
ORIGIN      
        1 aaagtttgcg gccgcccctg cgccgcaccc ggggcctggg tgagactgcg gcggcggcag
       61 ggcgcggacg gccatatttg ccggcgcggc ccgagccgcc gacaacaaaa agtgcgcggg
      121 cgctcggcgg gcgctcggac gggcgcgggg ctgcagcgct accgcccggc ctcgccgccg
      181 ccgccgccgc cctcgcggcc tggccccgcc gcgcccggcg cgcccgccgc ccggggggat
      241 gtcttacaaa ccgaacttgg ccgcgcacat gcccgccgcc gccctcaacg ccgctgggag
      301 tgtccactcg ccttccacca gcatggcaac gtcttcacag taccgccagc tgctcagtga
      361 ctacgggcca ccgtccctag gctacaccca gggaactggg aacagccagg tgccccaaag
      421 caaatacgcg gagctgctgg ccatcattga agagctgggg aaggagatca gacccacgta
      481 cgcagggagc aagagtgcca tggagaggct gaagcgcggc atcattcacg ctagaggact
      541 ggttcgggag tgcttggcag aaacggaacg gaatgccaga tcctagctgc cttgttggtt
      601 ttgaaggatt tccatctttt tacaagatga gaagttacag ttcatctccc ctgttcagat
      661 gaaacccttg ttttcaaaat ggttacagtt tcgtttttcc tcccatggtt cacttggctc
      721 tgaacctaca gtctcaaaga ttgagaaaag attttgcagt taattaggat ttgcatttta
      781 agtagttagg aactgcccag gttttttttg ttttttaagc attgatttaa aagatgcacg
      841 gaaagttatc ttacagcaaa ctgtagtttg cctccaagac accattgtct ccctttaatc
      901 ttctcttttg tatacatttg ttacccatgg tgttctttgt tccttttcat aagctaatac
      961 cactgtaggg attttgtttt gaacgcatat tgacagcacg ctttacttag tagccggttc
     1021 ccatttgcca tacaatgtag gttctgctta atgtaacttc ttttttgctt aagcatttgc
     1081 atgactatta gtgcttcaaa gtcaattttt aaaaatgcac aagttataaa tacagaagaa
     1141 agagcaaccc accaaaccta acaaggaccc ccgaacactt tcatactaag actgtaagta
     1201 gatctcagtt ctgcgtttat tgtaagttga taaaaacatc tggaagaaaa tgactaaaac
     1261 tgtttgcatc tttgtatgta tttattactt gatgtaataa agcttatttt cattaacaat
     1321 ttgtattaaa atgtgggttc cttgaa
//
