LOCUS       NM_001048201            3898 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens ubiquitin like with PHD and ring finger domains 1
            (UHRF1), transcript variant 1, mRNA.
ACCESSION   NM_001048201
VERSION     NM_001048201.3
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 3898)
  AUTHORS   Tan,L., Yin,T., Xiang,H., Wang,L., Mudgal,P., Chen,J., Ding,Y.,
            Wang,G., Lim,B.J.W., Huang,Y., Huang,D., Liang,Y., Alexander,P.B.,
            Xiang,K., Wang,E., Yan,C., Ma,Z., Tan,M., Li,Q.J. and Wang,X.F.
  TITLE     Aberrant cytoplasmic expression of UHRF1 restrains the
            MHC-I-mediated anti-tumor immune response
  JOURNAL   Nat Commun 15 (1), 8569 (2024)
   PUBMED   39362877
  REMARK    GeneRIF: Aberrant cytoplasmic expression of UHRF1 restrains the
            MHC-I-mediated anti-tumor immune response.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3898)
  AUTHORS   Unoki,M., Uemura,S., Fujimoto,A. and Sasaki,H.
  TITLE     The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm:
            implication for the pathogenesis of multilocus imprinting
            disturbance
  JOURNAL   Hum Mol Genet 33 (18), 1575-1583 (2024)
   PUBMED   38868925
  REMARK    GeneRIF: The maternal protein NLRP5 stabilizes UHRF1 in the
            cytoplasm: implication for the pathogenesis of multilocus
            imprinting disturbance.
REFERENCE   3  (bases 1 to 3898)
  AUTHORS   Shiraishi,N., Konuma,T., Chiba,Y., Hokazono,S., Nakamura,N.,
            Islam,M.H., Nakanishi,M., Nishiyama,A. and Arita,K.
  TITLE     Structure of human DPPA3 bound to the UHRF1 PHD finger reveals its
            functional and structural differences from mouse DPPA3
  JOURNAL   Commun Biol 7 (1), 746 (2024)
   PUBMED   38898124
  REMARK    GeneRIF: Structure of human DPPA3 bound to the UHRF1 PHD finger
            reveals its functional and structural differences from mouse DPPA3.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3898)
  AUTHORS   Vakayil,M., Madani,A.Y., Agha,M.V., Majeed,Y., Hayat,S.,
            Yonuskunju,S., Mohamoud,Y.A., Malek,J., Suhre,K. and Mazloum,N.A.
  TITLE     The E3 ubiquitin-protein ligase UHRF1 promotes adipogenesis and
            limits fibrosis by suppressing GPNMB-mediated TGF-beta signaling
  JOURNAL   Sci Rep 14 (1), 11886 (2024)
   PUBMED   38789534
  REMARK    GeneRIF: The E3 ubiquitin-protein ligase UHRF1 promotes
            adipogenesis and limits fibrosis by suppressing GPNMB-mediated
            TGF-beta signaling.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3898)
  AUTHORS   Bronner,C., Krifa,M. and Mousli,M.
  TITLE     Increasing role of UHRF1 in the reading and inheritance of the
            epigenetic code as well as in tumorogenesis
  JOURNAL   Biochem Pharmacol 86 (12), 1643-1649 (2013)
   PUBMED   24134914
  REMARK    GeneRIF: reviews the principles how UHRF1 acts as an epigenetic
            reader and discusses the properties of UHRF1 to be a biomarker as
            well as a therapeutic target
            Review article
REFERENCE   6  (bases 1 to 3898)
  AUTHORS   Muto,M., Fujimori,A., Nenoi,M., Daino,K., Matsuda,Y., Kuroiwa,A.,
            Kubo,E., Kanari,Y., Utsuno,M., Tsuji,H., Ukai,H., Mita,K.,
            Takahagi,M. and Tatsumi,K.
  TITLE     Isolation and Characterization of a Novel Human Radiosusceptibility
            Gene, NP95
  JOURNAL   Radiat Res 166 (5), 723-733 (2006)
   PUBMED   17067204
  REMARK    GeneRIF: These findings collectively indicate that the human NP95
            gene is the functional orthologue of the murine Np95 gene.
REFERENCE   7  (bases 1 to 3898)
  AUTHORS   Citterio,E., Papait,R., Nicassio,F., Vecchi,M., Gomiero,P.,
            Mantovani,R., Di Fiore,P.P. and Bonapace,I.M.
  TITLE     Np95 is a histone-binding protein endowed with ubiquitin ligase
            activity
  JOURNAL   Mol Cell Biol 24 (6), 2526-2535 (2004)
   PUBMED   14993289
REFERENCE   8  (bases 1 to 3898)
  AUTHORS   Mousli,M., Hopfner,R., Abbady,A.Q., Monte,D., Jeanblanc,M.,
            Oudet,P., Louis,B. and Bronner,C.
  TITLE     ICBP90 belongs to a new family of proteins with an expression that
            is deregulated in cancer cells
  JOURNAL   Br J Cancer 89 (1), 120-127 (2003)
   PUBMED   12838312
  REMARK    GeneRIF: ICBP90 expression altered in cancer cell lines and
            upregulated by E2F-1 overexpression, with efficiency depending on
            cancer status of cell line
REFERENCE   9  (bases 1 to 3898)
  AUTHORS   Hopfner,R., Mousli,M., Garnier,J.M., Redon,R., du Manoir,S.,
            Chatton,B., Ghyselinck,N., Oudet,P. and Bronner,C.
  TITLE     Genomic structure and chromosomal mapping of the gene coding for
            ICBP90, a protein involved in the regulation of the topoisomerase
            IIalpha gene expression
  JOURNAL   Gene 266 (1-2), 15-23 (2001)
   PUBMED   11290415
REFERENCE   10 (bases 1 to 3898)
  AUTHORS   Hopfner,R., Mousli,M., Jeltsch,J.M., Voulgaris,A., Lutz,Y.,
            Marin,C., Bellocq,J.P., Oudet,P. and Bronner,C.
  TITLE     ICBP90, a novel human CCAAT binding protein, involved in the
            regulation of topoisomerase IIalpha expression
  JOURNAL   Cancer Res 60 (1), 121-128 (2000)
   PUBMED   10646863
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314579.1, AK289389.1,
            AK074377.1, AC104525.4 and AK025578.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001048201.2.
            
            Summary: This gene encodes a member of a subfamily of RING-finger
            type E3 ubiquitin ligases. The protein binds to specific DNA
            sequences, and recruits a histone deacetylase to regulate gene
            expression. Its expression peaks at late G1 phase and continues
            during G2 and M phases of the cell cycle. It plays a major role in
            the G1/S transition by regulating topoisomerase IIalpha and
            retinoblastoma gene expression, and functions in the p53-dependent
            DNA damage checkpoint. It is regarded as a hub protein for the
            integration of epigenetic information. This gene is up-regulated in
            various cancers, and it is therefore considered to be a therapeutic
            target. Multiple transcript variants encoding different isoforms
            have been found for this gene. A related pseudogene exists on
            chromosome 12. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (1) encodes the shorter isoform
            (1). Variants 1, 3, 4 and 5 all encode isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK074377.1, SRR1660805.49607.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000650932.1/ ENSP00000498698.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-497               AK314579.1         1-497
            498-558             AK289389.1         410-470
            559-1511            AK074377.1         559-1511
            1512-1571           AK289389.1         1424-1483
            1572-2464           AK074377.1         1572-2464
            2465-3526           AC104525.4         9684-10745
            3527-3898           AK025578.1         1927-2298
FEATURES             Location/Qualifiers
     source          1..3898
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..3898
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /note="ubiquitin like with PHD and ring finger domains 1"
                     /db_xref="GeneID:29128"
                     /db_xref="HGNC:HGNC:12556"
                     /db_xref="MIM:607990"
     exon            1..155
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            156..318
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     CDS             166..2547
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     inverted CCAAT box-binding protein of 90 kDa; nuclear zinc
                     finger protein Np95; RING finger protein 106;
                     transcription factor ICBP90; E3 ubiquitin-protein ligase
                     UHRF1; ubiquitin-like PHD and RING finger
                     domain-containing protein 1; nuclear phosphoprotein 95;
                     nuclear protein 95; RING-type E3 ubiquitin transferase
                     UHRF1; inverted CCAAT box binding protein 90"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase UHRF1 isoform 1"
                     /protein_id="NP_001041666.1"
                     /db_xref="CCDS:CCDS74263.1"
                     /db_xref="GeneID:29128"
                     /db_xref="HGNC:HGNC:12556"
                     /db_xref="MIM:607990"
                     /translation="MWIQVRTMDGRQTHTVDSLSRLTKVEELRRKIQELFHVEPGLQR
                     LFYRGKQMEDGHTLFDYEVRLNDTIQLLVRQSLVLPHSTKERDSELSDTDSGCCLGQS
                     ESDKSSTHGEAAAETDSRPADEDMWDETELGLYKVNEYVDARDTNMGAWFEAQVVRVT
                     RKAPSRDEPCSSTSRPALEEDVIYHVKYDDYPENGVVQMNSRDVRARARTIIKWQDLE
                     VGQVVMLNYNPDNPKERGFWYDAEISRKRETRTARELYANVVLGDDSLNDCRIIFVDE
                     VFKIERPGEGSPMVDNPMRRKSGPSCKHCKDDVNRLCRVCACHLCGGRQDPDKQLMCD
                     ECDMAFHIYCLDPPLSSVPSEDEWYCPECRNDASEVVLAGERLRESKKKAKMASATSS
                     SQRDWGKGMACVGRTKECTIVPSNHYGPIPGIPVGTMWRFRVQVSESGVHRPHVAGIH
                     GRSNDGAYSLVLAGGYEDDVDHGNFFTYTGSGGRDLSGNKRTAEQSCDQKLTNTNRAL
                     ALNCFAPINDQEGAEAKDWRSGKPVRVVRNVKGGKNSKYAPAEGNRYDGIYKVVKYWP
                     EKGKSGFLVWRYLLRRDDDEPGPWTKEGKDRIKKLGLTMQYPEGYLEALANREREKEN
                     SKREEEEQQEGGFASPRTGKGKWKRKSAGGGPSRAGSPRRTSKKTKVEPYSLTAQQSS
                     LIREDKSNAKLWNEVLASLKDRPASGSPFQLFLSKVEETFQCICCQELVFRPITTVCQ
                     HNVCKDCLDRSFRAQVFSCPACRYDLGRSYAMQVNQPLQTVLNQLFPGYGNGR"
     exon            319..573
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            574..734
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            735..950
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1051
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1238
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1362
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1470
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1575
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1682
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..1845
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            1846..1983
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2122
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            2123..2295
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            2296..2400
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     exon            2401..3898
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3876..3881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /note="hexamer: AATAAA"
     polyA_site      3898
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95;
                     RNF106; TDRD22"
                     /note="major polyA site"
ORIGIN      
        1 agagcagctg gcagcgcggc gggcagcgtt tgccgagcgg gcgctccggg tcgcacgcaa
       61 gtccgcgcgg ggtccgggcc acgcacgcgg tttcatcgcc atccccagcc gggccacgcg
      121 cgcaggcaga caagctgttc gcggcgaccg gagagcgccg acaccatgtg gatccaggtt
      181 cggaccatgg acgggaggca gacccacacg gtggactcgc tgtccaggct gaccaaggtg
      241 gaggagctga ggcggaagat ccaggagctg ttccacgtgg agccaggcct gcagaggctg
      301 ttctacaggg gcaaacagat ggaggacggc cataccctct tcgactacga ggtccgcctg
      361 aatgacacca tccagctcct ggtccgccag agcctcgtgc tcccccacag caccaaggag
      421 cgggactccg agctctccga caccgactcc ggctgctgcc tgggccagag tgagtcagac
      481 aagtcctcca cccacggtga ggcggccgcc gagactgaca gcaggccagc cgatgaggac
      541 atgtgggatg agacggaatt ggggctgtac aaggtcaatg agtacgtcga tgctcgggac
      601 acgaacatgg gggcgtggtt tgaggcgcag gtggtcaggg tgacgcggaa ggccccctcc
      661 cgggacgagc cctgcagctc cacgtccagg ccggcgctgg aggaggacgt catttaccac
      721 gtgaaatacg acgactaccc ggagaacggc gtggtccaga tgaactccag ggacgtccga
      781 gcgcgcgccc gcaccatcat caagtggcag gacctggagg tgggccaggt ggtcatgctc
      841 aactacaacc ccgacaaccc caaggagcgg ggcttctggt acgacgcgga gatctccagg
      901 aagcgcgaga ccaggacggc gcgggaactc tacgccaacg tggtgctggg ggatgattct
      961 ctgaacgact gtcggatcat cttcgtggac gaagtcttca agattgagcg gccgggtgaa
     1021 gggagcccca tggttgacaa ccccatgaga cggaagagcg ggccgtcctg caagcactgc
     1081 aaggacgacg tgaacagact ctgccgggtc tgcgcctgcc acctgtgcgg gggccggcag
     1141 gaccccgaca agcagctcat gtgcgatgag tgcgacatgg ccttccacat ctactgcctg
     1201 gacccgcccc tcagcagtgt tcccagcgag gacgagtggt actgccctga gtgccggaat
     1261 gatgccagcg aggtggtact ggcgggagag cggctgagag agagcaagaa gaaggcgaag
     1321 atggcctcgg ccacatcgtc ctcacagcgg gactggggca agggcatggc ctgtgtgggc
     1381 cgcaccaagg aatgtaccat cgtcccgtcc aaccactacg gacccatccc ggggatcccc
     1441 gtgggcacca tgtggcggtt ccgagtccag gtcagcgagt cgggtgtcca tcggccccac
     1501 gtggctggca tacacggccg gagcaacgac ggagcgtact ccctagtcct ggcggggggc
     1561 tatgaggatg atgtggacca tgggaatttt ttcacataca cgggtagtgg tggtcgagat
     1621 ctttccggca acaagaggac cgcggaacag tcttgtgatc agaaactcac caacaccaac
     1681 agggcgctgg ctctcaactg ctttgctccc atcaatgacc aagaaggggc cgaggccaag
     1741 gactggcggt cggggaagcc ggtcagggtg gtgcgcaatg tcaagggtgg caagaatagc
     1801 aagtacgccc ccgctgaggg caaccgctac gatggcatct acaaggttgt gaaatactgg
     1861 cccgagaagg ggaagtccgg gtttctcgtg tggcgctacc ttctgcggag ggacgatgat
     1921 gagcctggcc cttggacgaa ggaggggaag gaccggatca agaagctggg gctgaccatg
     1981 cagtatccag aaggctacct ggaagccctg gccaaccgag agcgagagaa ggagaacagc
     2041 aagagggagg aggaggagca gcaggagggg ggcttcgcgt cccccaggac gggcaagggc
     2101 aagtggaagc ggaagtcggc aggaggtggc ccgagcaggg ccgggtcccc gcgccggaca
     2161 tccaagaaaa ccaaggtgga gccctacagt ctcacggccc agcagagcag cctcatcaga
     2221 gaggacaaga gcaacgccaa gctgtggaat gaggtcctgg cgtcactcaa ggaccggccg
     2281 gcgagcggca gcccgttcca gttgttcctg agtaaagtgg aggagacgtt ccagtgtatc
     2341 tgctgtcagg agctggtgtt ccggcccatc acgaccgtgt gccagcacaa cgtgtgcaag
     2401 gactgcctgg acagatcctt tcgggcacag gtgttcagct gccctgcctg ccgctacgac
     2461 ctgggccgca gctatgccat gcaggtgaac cagcctctgc agaccgtcct caaccagctc
     2521 ttccccggct acggcaatgg ccggtgatct ccaagcactt ctcgacaggc gttttgctga
     2581 aaacgtgtcg gagggctcgt tcatcggcac tgattttgtt cttagtgggc ttaacttaaa
     2641 caggtagtgt ttcctccgtt ccctaaaaag gtttgtcttc cttttttttt ttatttttat
     2701 ttttcaaatc tatacatttt caggaattta tgtattctgg ctaaaagttg gacttctcag
     2761 tattgtgttt agttctttga aaacataaaa gcctgcaatt tctcgacaaa acaacacaag
     2821 attttttaaa gatggaatca gaaactacgt ggtgtggagg ctgttgatgt ttctggtgtc
     2881 aagttctcag aagttgctgc caccaactct ttaagaaggc gacaggatca gtccttctct
     2941 cgggttctgg cccccaaggt cagagcaagc atcttcctga cagcattttg tcatctaaag
     3001 tccagtgaca tggttccccg tggtggcccg tggcagcccg tggcatggcg tggctcagct
     3061 gtctgttgaa gttgttgcaa ggaaaagagg aaacatctcg ggcctagttc aaacctttgc
     3121 ctcaaagcca tcccccacca gactgcttag cgtctgagat ccgcgtgaaa agtcctctgc
     3181 ccacgagagc agggagttgg ggccacgcag aaatggcctc aaggggactc tgctccacgt
     3241 ggggccaggc gtgtgactga cgctgtccga cgaaggcggc cacggacgga cgccagcaca
     3301 cgaagtcacg tgcaagtgcc tttgattcgt tccttctttc taaagacgac agtctttgtt
     3361 gttagcactg aattattgaa aatgtcaacc agattctaga aactgcggtc atccagttct
     3421 tcctgacacc ggatgggtgc ttgggaaccg tttgagcctt atagatcatt tacattcaat
     3481 ttttttaact cagcaagtga gaacttacaa gagggttttt ttaaaatttt tttttctctt
     3541 aatgaacaca ttttctaaat gaattttttt tgtagttact gtatatgtac caagaaagat
     3601 ataacgttag ggtttggttg tttttgtttt tgtatttttt ttcttttgaa agggtttgtt
     3661 aatttttcta attttaccaa agtttgcagc ctatacctca ataaaacagg gatattttaa
     3721 atcacatacc tgcagacaaa ctggagcaat gttattttta aagggttttt ttcacctcct
     3781 tattcttaga ttattaatgt attagggaag aatgagacaa ttttgtgtag gctttttcta
     3841 aagtccagta ctttgtccag attttagatt ctcagaataa atgtttttca cagataga
//
