LOCUS       NM_001407168            2159 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens RB transcriptional corepressor 1 (RB1), transcript
            variant 5, mRNA.
ACCESSION   NM_001407168
VERSION     NM_001407168.1
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 2159)
  AUTHORS   Zhang,S., Valenzuela,L.F., Zatulovskiy,E., Mangiante,L., Curtis,C.
            and Skotheim,J.M.
  TITLE     The G1-S transition is promoted by Rb degradation via the E3 ligase
            UBR5
  JOURNAL   Sci Adv 10 (43), eadq6858 (2024)
   PUBMED   39441926
  REMARK    GeneRIF: The G1-S transition is promoted by Rb degradation via the
            E3 ligase UBR5.
REFERENCE   2  (bases 1 to 2159)
  AUTHORS   Schwartz,C.J., Marra,A., Selenica,P., Gazzo,A., Tan,K., Ross,D.,
            Razavi,P., Chandarlapaty,S., Weigelt,B., Reis-Filho,J.S., Brogi,E.,
            Pareja,F. and Wen,H.Y.
  TITLE     RB1 Genetic Alterations in Estrogen Receptor-Positive Breast
            Carcinomas: Correlation With Neuroendocrine Differentiation
  JOURNAL   Mod Pathol 37 (8), 100541 (2024)
   PUBMED   38897452
  REMARK    GeneRIF: RB1 Genetic Alterations in Estrogen Receptor-Positive
            Breast Carcinomas: Correlation With Neuroendocrine Differentiation.
REFERENCE   3  (bases 1 to 2159)
  AUTHORS   Gregersen,P.A., Jensen,P.S., Christensen,R., Lohmann,D., Racher,H.,
            Gallie,B. and Urbak,S.F.
  TITLE     Retinoblastoma caused by an RB1 variant with unusually low
            penetrance in a Danish family
  JOURNAL   Eur J Med Genet 70, 104956 (2024)
   PUBMED   38897371
  REMARK    GeneRIF: Retinoblastoma caused by an RB1 variant with unusually low
            penetrance in a Danish family.
REFERENCE   4  (bases 1 to 2159)
  AUTHORS   Konagaya,Y., Rosenthal,D., Ratnayeke,N., Fan,Y. and Meyer,T.
  TITLE     An intermediate Rb-E2F activity state safeguards proliferation
            commitment
  JOURNAL   Nature 631 (8020), 424-431 (2024)
   PUBMED   38926571
  REMARK    GeneRIF: An intermediate Rb-E2F activity state safeguards
            proliferation commitment.
REFERENCE   5  (bases 1 to 2159)
  AUTHORS   Queiroz,L.F., Silva,M.S.D.M.E., Rosman,F.C., Rosas,S.L.B.,
            Souza,H.S.P. and Carvalho,M.D.G.D.C.
  TITLE     Molecular monitoring by CDKN2A/p16INK4A and RB1 gene methylation in
            breast cancer
  JOURNAL   Rev Assoc Med Bras (1992) 70 (4), e20231358 (2024)
   PUBMED   38716944
  REMARK    GeneRIF: Molecular monitoring by CDKN2A/p16INK4A and RB1 gene
            methylation in breast cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2159)
  AUTHORS   Lohmann,D.R. and Gallie,B.L.
  TITLE     Retinoblastoma
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301625
REFERENCE   7  (bases 1 to 2159)
  AUTHORS   Dyson,N., Guida,P., Munger,K. and Harlow,E.
  TITLE     Homologous sequences in adenovirus E1A and human papillomavirus E7
            proteins mediate interaction with the same set of cellular proteins
  JOURNAL   J Virol 66 (12), 6893-6902 (1992)
   PUBMED   1331501
REFERENCE   8  (bases 1 to 2159)
  AUTHORS   Huang,S., Shin,E., Sheppard,K.A., Chokroverty,L., Shan,B.,
            Qian,Y.W., Lee,E.Y. and Yee,A.S.
  TITLE     The retinoblastoma protein region required for interaction with the
            E2F transcription factor includes the T/E1A binding and
            carboxy-terminal sequences
  JOURNAL   DNA Cell Biol 11 (7), 539-548 (1992)
   PUBMED   1388726
REFERENCE   9  (bases 1 to 2159)
  AUTHORS   Onadim,Z., Hogg,A., Baird,P.N. and Cowell,J.K.
  TITLE     Oncogenic point mutations in exon 20 of the RB1 gene in families
            showing incomplete penetrance and mild expression of the
            retinoblastoma phenotype
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 6177-6181 (1992)
   PUBMED   1352883
REFERENCE   10 (bases 1 to 2159)
  AUTHORS   Hogg,A., Onadim,Z., Baird,P.N. and Cowell,J.K.
  TITLE     Detection of heterozygous mutations in the RB1 gene in
            retinoblastoma patients using single-strand conformation
            polymorphism analysis and polymerase chain reaction sequencing
  JOURNAL   Oncogene 7 (7), 1445-1451 (1992)
   PUBMED   1352398
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136960.4.
            
            Summary: The protein encoded by this gene is a negative regulator
            of the cell cycle and was the first tumor suppressor gene found.
            The encoded protein also stabilizes constitutive heterochromatin to
            maintain the overall chromatin structure. The active,
            hypophosphorylated form of the protein binds transcription factor
            E2F1. Defects in this gene are a cause of childhood cancer
            retinoblastoma (RB), bladder cancer, and osteogenic sarcoma.
            [provided by RefSeq, Jul 2008].
            
            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 :: SRR14038193.1911532.1,
                                           SRR14038191.3079486.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-73                AL136960.4         50766-50838
            74-216              AL136960.4         51017-51159
            217-266             AL136960.4         51671-51720
            267-2159            AL136960.4         54314-56206
FEATURES             Location/Qualifiers
     source          1..2159
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     gene            1..2159
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="RB transcriptional corepressor 1"
                     /db_xref="GeneID:5925"
                     /db_xref="HGNC:HGNC:9884"
                     /db_xref="MIM:614041"
     exon            1..73
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /inference="alignment:Splign:2.1.0"
     exon            74..216
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..340
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="isoform 5 is encoded by transcript variant 5;
                     retinoblastoma-associated protein;
                     prepro-retinoblastoma-associated protein; protein
                     phosphatase 1, regulatory subunit 130; retinoblastoma
                     suspectibility protein; retinoblastoma 1"
                     /codon_start=1
                     /product="retinoblastoma-associated protein isoform 5"
                     /protein_id="NP_001394097.1"
                     /db_xref="GeneID:5925"
                     /db_xref="HGNC:HGNC:9884"
                     /db_xref="MIM:614041"
                     /translation="MVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGE
                     SKFQQKLAEMTSTRTRMQKQKMNDSMDTSNKEEK"
     exon            217..266
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /inference="alignment:Splign:2.1.0"
     exon            267..2159
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2134..2139
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="hexamer: AATAAA"
     polyA_site      2159
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="major polyA site"
ORIGIN      
        1 gaagaatgtg agctgcatgg gaaaagacag gaggatttac aaagagtggg tgtttaattg
       61 gggatggaat tagacttctg agaagttcca gaaaataaat cagatggtat gtaacagcga
      121 ccgtgtgctc aaaagaagtg ctgaaggaag caaccctcct aaaccactga aaaaactacg
      181 ctttgatatt gaaggatcag atgaagcaga tggaagtaaa catctcccag gagagtccaa
      241 atttcagcag aaactggcag aaatgacttc tactcgaaca cgaatgcaaa agcagaaaat
      301 gaatgatagc atggatacct caaacaagga agagaaatga ggatctcagg accttggtgg
      361 acactgtgta cacctctgga ttcattgtct ctcacagatg tgactgtata actttcccag
      421 gttctgttta tggccacatt taatatcttc agctcttttt gtggatataa aatgtgcaga
      481 tgcaattgtt tgggtgattc ctaagccact tgaaatgtta gtcattgtta tttatacaag
      541 attgaaaatc ttgtgtaaat cctgccattt aaaaagttgt agcagattgt ttcctcttcc
      601 aaagtaaaat tgctgtgctt tatggatagt aagaatggcc ctagagtggg agtcctgata
      661 acccaggcct gtctgactac tttgccttct tttgtagcat ataggtgatg tttgctcttg
      721 tttttattaa tttatatgta tattttttta atttaacatg aacaccctta gaaaatgtgt
      781 cctatctatc ttccaaatgc aatttgattg actgcccatt caccaaaatt atcctgaact
      841 cttctgcaaa aatggatatt attagaaatt agaaaaaaat tactaatttt acacattaga
      901 ttttatttta ctattggaat ctgatatact gtgtgcttgt tttataaaat tttgctttta
      961 attaaataaa agctggaagc aaagtataac catatgatac tatcatacta ctgaaacaga
     1021 tttcatacct cagaatgtaa aagaacttac tgattatttt cttcatccaa cttatgtttt
     1081 taaatgagga ttattgatag tactcttggt ttttatacca ttcagatcac tgaatttata
     1141 aagtacccat ctagtacttg aaaaagtaaa gtgttctgcc agatcttagg tatagaggac
     1201 cctaacacag tatatcccaa gtgcactttc taatgtttct gggtcctgaa gaattaagat
     1261 acaaattaat tttactccat aaacagactg ttaattatag gagccttaat ttttttttca
     1321 tagagatttg tctaattgca tctcaaaatt attctgccct ccttaatttg ggaaggtttg
     1381 tgttttctct ggaatggtac atgtcttcca tgtatctttt gaactggcaa ttgtctattt
     1441 atcttttatt tttttaagtc agtatggtct aacactggca tgttcaaagc cacattattt
     1501 ctagtccaaa attacaagta atcaagggtc attatgggtt aggcattaat gtttctatct
     1561 gattttgtgc aaaagcttca aattaaaaca gctgcattag aaaaagaggc gcttctcccc
     1621 tcccctacac ctaaaggtgt atttaaacta tcttgtgtga ttaacttatt tagagatgct
     1681 gtaacttaaa ataggggata tttaaggtag cttcagctag cttttaggaa aatcactttg
     1741 tctaactcag aattattttt aaaaagaaat ctggtcttgt tagaaaacaa aattttattt
     1801 tgtgctcatt taagtttcaa acttactatt ttgacagtta ttttgataac aatgacacta
     1861 gaaaacttga ctccatttca tcattgtttc tgcatgaata tcatacaaat cagttagttt
     1921 ttaggtcaag ggcttactat ttctgggtct tttgctacta agttcacatt agaattagtg
     1981 ccagaatttt aggaacttca gagatcgtgt attgagattt cttaaataat gcttcagata
     2041 ttattgcttt attgcttttt tgtattggtt aaaactgtac atttaaaatt gctatgttac
     2101 tattttctac aattaatagt ttgtctattt taaaataaat tagttgttaa gagtcttaa
//
