LOCUS       NM_078468               1234 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP),
            transcript variant B, mRNA.
ACCESSION   NM_078468
VERSION     NM_078468.3
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 1234)
  AUTHORS   Liu,Y., Liu,J., Liu,C., Jin,J. and Liu,Y.
  TITLE     Expression and Significance of BCCIP and Glutathione Peroxidase 4
            in Clear Cell Renal Cell Carcinoma
  JOURNAL   Bull Exp Biol Med 176 (3), 363-368 (2024)
   PUBMED   38342812
  REMARK    GeneRIF: Expression and Significance of BCCIP and Glutathione
            Peroxidase 4 in Clear Cell Renal Cell Carcinoma.
REFERENCE   2  (bases 1 to 1234)
  AUTHORS   Shi,J., Lv,X., Li,W., Ming,Z., Zeng,L., Yuan,J., Chen,Y., Liu,B.
            and Yang,S.
  TITLE     Overexpression of BCCIP predicts an unfavorable prognosis and
            promotes the proliferation and migration of lung adenocarcinoma
  JOURNAL   Thorac Cancer 12 (17), 2324-2338 (2021)
   PUBMED   34297484
  REMARK    GeneRIF: Overexpression of BCCIP predicts an unfavorable prognosis
            and promotes the proliferation and migration of lung
            adenocarcinoma.
REFERENCE   3  (bases 1 to 1234)
  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 1234)
  AUTHORS   Choi,W.S., Liu,B., Shen,Z. and Yang,W.
  TITLE     Structure of human BCCIP and implications for binding and
            modification of partner proteins
  JOURNAL   Protein Sci 30 (3), 693-699 (2021)
   PUBMED   33452718
  REMARK    GeneRIF: Structure of human BCCIP and implications for binding and
            modification of partner proteins.
REFERENCE   5  (bases 1 to 1234)
  AUTHORS   Ye,C., Liu,B., Lu,H., Liu,J., Rabson,A.B., Jacinto,E., Pestov,D.G.
            and Shen,Z.
  TITLE     BCCIP is required for nucleolar recruitment of eIF6 and 12S
            pre-rRNA production during 60S ribosome biogenesis
  JOURNAL   Nucleic Acids Res 48 (22), 12817-12832 (2020)
   PUBMED   33245766
  REMARK    GeneRIF: BCCIP is required for nucleolar recruitment of eIF6 and
            12S pre-rRNA production during 60S ribosome biogenesis.
REFERENCE   6  (bases 1 to 1234)
  AUTHORS   Robson,M., Scheuer,L., Nafa,K., Ellis,N. and Offit,K.
  TITLE     Unique de novo mutation of BRCA2 in a woman with early onset breast
            cancer
  JOURNAL   J Med Genet 39 (2), 126-128 (2002)
   PUBMED   11836363
  REMARK    GeneRIF: Unique de novo mutation of BRCA2 has been identified in a
            woman with early onset breast cancer.
REFERENCE   7  (bases 1 to 1234)
  AUTHORS   Armakolas,A., Ladopoulou,A., Konstantopoulou,I., Pararas,B.,
            Gomatos,I.P., Kataki,A., Konstadoulakis,M.M., Stathopoulos,G.P.,
            Markopoulos,C., Leandros,E., Gogas,I., Yannoukakos,D. and
            Androulakis,G.
  TITLE     BRCA2 gene mutations in Greek patients with familial breast cancer
  JOURNAL   Hum Mutat 19 (1), 81-82 (2002)
   PUBMED   11754111
  REMARK    GeneRIF: BRCA2 germline mutations appear to have a milder clinical
            phenotype when compared to non-BRCA2 mutations, since survival is
            higher among breast cancer patients carrying a BRCA2 mutation
            compared to sporadic breast cancers.
REFERENCE   8  (bases 1 to 1234)
  AUTHORS   Machackova,E., Damborsky,J., Valik,D. and Foretova,L.
  TITLE     Novel germline BRCA1 and BRCA2 mutations in breast and
            breast/ovarian cancer families from the Czech Republic
  JOURNAL   Hum Mutat 18 (6), 545 (2001)
   PUBMED   11748848
  REMARK    GeneRIF: In BRCA2, two novel frame shift mutations were identified
            as 5073-5074delCT and 6866delC.
REFERENCE   9  (bases 1 to 1234)
  AUTHORS   Liu,J., Yuan,Y., Huan,J. and Shen,Z.
  TITLE     Inhibition of breast and brain cancer cell growth by BCCIPalpha, an
            evolutionarily conserved nuclear protein that interacts with BRCA2
  JOURNAL   Oncogene 20 (3), 336-345 (2001)
   PUBMED   11313963
REFERENCE   10 (bases 1 to 1234)
  AUTHORS   Ono,T., Kitaura,H., Ugai,H., Murata,T., Yokoyama,K.K.,
            Iguchi-Ariga,S.M. and Ariga,H.
  TITLE     TOK-1, a novel p21Cip1-binding protein that cooperatively enhances
            p21-dependent inhibitory activity toward CDK2 kinase
  JOURNAL   J Biol Chem 275 (40), 31145-31154 (2000)
   PUBMED   10878006
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY064249.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_078468.2.
            
            Summary: This gene product was isolated on the basis of its
            interaction with BRCA2 and p21 proteins. It is an evolutionarily
            conserved nuclear protein with multiple interacting domains. The
            N-terminal half shares moderate homology with regions of calmodulin
            and M-calpain, suggesting that it may also bind calcium. Functional
            studies indicate that this protein may be an important cofactor for
            BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity
            via p21. This protein has also been implicated in the regulation of
            BRCA2 and RAD51 nuclear focus formation, double-strand
            break-induced homologous recombination, and cell cycle progression.
            Multiple transcript variants encoding different isoforms have been
            described for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (B) is alternatively spliced at
            the 3' end compared to transcript variant A. It encodes an isoform
            (BCCIPbeta) which has the same 258 N-terminal aa, but a different
            C-terminus compared to isoform BCCIPalpha.
            
            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 :: AY064249.1, BC009771.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278100.11/ ENSP00000278100.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1234              AY064249.1         12-1245
FEATURES             Location/Qualifiers
     source          1..1234
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.2"
     gene            1..1234
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /note="BRCA2 and CDKN1A interacting protein"
                     /db_xref="GeneID:56647"
                     /db_xref="HGNC:HGNC:978"
                     /db_xref="MIM:611883"
     exon            1..177
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..957
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /note="isoform BCCIPbeta is encoded by transcript variant
                     B; cdk inhibitor p21 binding protein; BCCIPalpha;
                     TOK-1alpha; TOK-1beta; p21- and CDK-associated protein 1;
                     BRCA2 and Cip1/p21 interacting protein; protein TOK-1"
                     /codon_start=1
                     /product="BRCA2 and CDKN1A-interacting protein isoform
                     BCCIPbeta"
                     /protein_id="NP_510868.1"
                     /db_xref="CCDS:CCDS7651.1"
                     /db_xref="GeneID:56647"
                     /db_xref="HGNC:HGNC:978"
                     /db_xref="MIM:611883"
                     /translation="MASRSKRRAVESGVPQPPDPPVQRDEEEEKEVENEDEDDDDSDK
                     EKDEEDEVIDEEVNIEFEAYSLSDNDYDGIKKLLQQLFLKAPVNTAELTDLLIQQNHI
                     GSVIKQTDVSEDSNDDMDEDEVFGFISLLNLTERKGTQCVEQIQELVLRFCEKNCEKS
                     MVEQLDKFLNDTTKPVGLLLSERFINVPPQIALPMYQQLQKELAGAHRTNKPCGKCYF
                     YLLISKTFVEAGKNNSKKKPSNKKKAALMFANAEEEFFYEKAILKFNYSVQEESDTCL
                     GGKWSFDDVPMTPLRTVMLIPGDKMNEIMDKLKEYLSV"
     exon            178..252
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /inference="alignment:Splign:2.1.0"
     exon            253..333
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /inference="alignment:Splign:2.1.0"
     exon            334..423
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /inference="alignment:Splign:2.1.0"
     exon            424..611
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /inference="alignment:Splign:2.1.0"
     exon            612..786
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /inference="alignment:Splign:2.1.0"
     exon            787..1234
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1203..1208
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /note="hexamer: AATAAA"
     polyA_site      1234
                     /gene="BCCIP"
                     /gene_synonym="TOK-1; TOK1"
                     /note="major polyA site"
ORIGIN      
        1 gtgagcggca acatggcgtc caggtctaag cggcgtgccg tggaaagtgg ggttccgcag
       61 ccgccggatc ccccagtcca gcgcgacgag gaagaggaaa aagaagtcga aaatgaggat
      121 gaagacgatg atgacagtga caaggaaaag gatgaagagg acgaggtcat tgacgaggaa
      181 gtgaatattg aatttgaagc ttattcccta tcagataatg attatgacgg aattaagaaa
      241 ttactgcagc agctttttct aaaggctcct gtgaacactg cagaactaac agatctctta
      301 attcaacaga accatattgg gagtgtgatt aagcaaacgg atgtttcaga agacagcaat
      361 gatgatatgg atgaagatga ggtttttggt ttcataagcc ttttaaattt aactgaaaga
      421 aagggtaccc agtgtgttga acaaattcaa gagttggttc tacgcttctg tgagaagaac
      481 tgtgaaaaga gcatggttga acagctggac aagtttttaa atgacaccac caagcctgtg
      541 ggccttctcc taagtgaaag attcattaat gtccctccac agatcgctct gcccatgtac
      601 cagcagcttc agaaagaact ggcgggggca cacagaacca ataagccatg tgggaagtgc
      661 tacttttacc ttctgattag taagacattt gtggaagcag gaaaaaacaa ttccaaaaag
      721 aaacctagca acaaaaagaa agctgcgtta atgtttgcaa atgcagagga agaatttttc
      781 tatgagaagg caattctcaa gttcaactac tcagtgcagg aggagagcga cacttgtctg
      841 ggaggcaaat ggtcttttga tgacgtacca atgacgccct tgcgaactgt gatgttaatt
      901 ccaggcgaca agatgaacga aatcatggat aaactgaaag aatatctatc tgtctaaccc
      961 atttccaatg gacagtgatg ggcttgtttt tgtaaaatta ccagaaaact cagtggagat
     1021 ttactgaaaa actcagactt tattcagatt aagttcctct acaaaaagta gggttctgtc
     1081 ccatgtgtct ctgacacatt tacaaaatac cagtttttta aaattttggt caaattatga
     1141 gtggttgatt taaaaacttt tccaagaaga agaaaagcat ggagtagtaa tttaaagaac
     1201 tcaataaaaa cttctatttt ttattttaaa ataa
//
