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
//