LOCUS       NP_055048                764 aa            linear   PRI 28-APR-2025
DEFINITION  nucleolar transcription factor 1 isoform a [Homo sapiens].
ACCESSION   NP_055048
VERSION     NP_055048.1
DBSOURCE    REFSEQ: accession NM_014233.4
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  (residues 1 to 764)
  AUTHORS   Han,D., Guan,L., Zhang,Y., Yang,H., Si,L., Jia,T., Wu,Y., Lv,K.,
            Song,T. and Yang,G.
  TITLE     FGF13A interacts with NPM1 and UBF and inhibits the invasion of
            bladder cancer cells
  JOURNAL   Biochem Biophys Res Commun 678, 1-10 (2023)
   PUBMED   37603967
  REMARK    GeneRIF: FGF13A interacts with NPM1 and UBF and inhibits the
            invasion of bladder cancer cells.
REFERENCE   2  (residues 1 to 764)
  AUTHORS   Duployez,N., Vasseur,L., Kim,R., Largeaud,L., Passet,M.,
            L'Haridon,A., Lemaire,P., Fenwarth,L., Geffroy,S., Helevaut,N.,
            Celli-Lebras,K., Ades,L., Lebon,D., Berthon,C., Marceau-Renaut,A.,
            Cheok,M., Lambert,J., Recher,C., Raffoux,E., Micol,J.B.,
            Pigneux,A., Gardin,C., Delabesse,E., Soulier,J., Hunault,M.,
            Dombret,H., Itzykson,R., Clappier,E. and Preudhomme,C.
  TITLE     UBTF tandem duplications define a distinct subtype of adult de novo
            acute myeloid leukemia
  JOURNAL   Leukemia 37 (6), 1245-1253 (2023)
   PUBMED   37085611
  REMARK    GeneRIF: UBTF tandem duplications define a distinct subtype of
            adult de novo acute myeloid leukemia.
REFERENCE   3  (residues 1 to 764)
  AUTHORS   Georgi,J.A., Stasik,S., Eckardt,J.N., Zukunft,S., Hartwig,M.,
            Rollig,C., Middeke,J.M., Oelschlagel,U., Krug,U., Sauer,T.,
            Scholl,S., Hochhaus,A., Brummendorf,T.H., Naumann,R., Steffen,B.,
            Einsele,H., Schaich,M., Burchert,A., Neubauer,A.,
            Schafer-Eckart,K., Schliemann,C., Krause,S.W., Hanel,M.,
            Noppeney,R., Kaiser,U., Baldus,C.D., Kaufmann,M., Muller-Tidow,C.,
            Platzbecker,U., Berdel,W.E., Serve,H., Ehninger,G., Bornhauser,M.,
            Schetelig,J., Kroschinsky,F. and Thiede,C.
  CONSRTM   Study Alliance Leukemia (SAL)
  TITLE     UBTF tandem duplications are rare but recurrent alterations in
            adult AML and associated with younger age, myelodysplasia, and
            inferior outcome
  JOURNAL   Blood Cancer J 13 (1), 88 (2023)
   PUBMED   37236968
  REMARK    GeneRIF: UBTF tandem duplications are rare but recurrent
            alterations in adult AML and associated with younger age,
            myelodysplasia, and inferior outcome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 764)
  AUTHORS   Kaburagi,T., Shiba,N., Yamato,G., Yoshida,K., Tabuchi,K., Ohki,K.,
            Ishikita,E., Hara,Y., Shiraishi,Y., Kawasaki,H., Sotomatsu,M.,
            Takizawa,T., Taki,T., Kiyokawa,N., Tomizawa,D., Horibe,K.,
            Miyano,S., Taga,T., Adachi,S., Ogawa,S. and Hayashi,Y.
  TITLE     UBTF-internal tandem duplication as a novel poor prognostic factor
            in pediatric acute myeloid leukemia
  JOURNAL   Genes Chromosomes Cancer 62 (4), 202-209 (2023)
   PUBMED   36448876
  REMARK    GeneRIF: UBTF-internal tandem duplication as a novel poor
            prognostic factor in pediatric acute myeloid leukemia.
REFERENCE   5  (residues 1 to 764)
  AUTHORS   Duhr,S., Torres-Montaner,A., Astola,A., Garcia-Cozar,F.J.,
            Pendon,C., Bolivar,J. and Valdivia,M.M.
  TITLE     Molecular analysis of the 5' region of human ribosomal
            transcription factor UBF
  JOURNAL   DNA Seq 12 (4), 267-272 (2001)
   PUBMED   11916260
REFERENCE   6  (residues 1 to 764)
  AUTHORS   Matera,A.G., Wu,W., Imai,H., O'Keefe,C.L. and Chan,E.K.
  TITLE     Molecular cloning of the RNA polymerase I transcription factor
            hUBF/NOR-90 (UBTF) gene and localization to 17q21.3 by fluorescence
            in situ hybridization and radiation hybrid mapping
  JOURNAL   Genomics 41 (1), 135-138 (1997)
   PUBMED   9126496
REFERENCE   7  (residues 1 to 764)
  AUTHORS   Chan,E.K., Imai,H., Hamel,J.C. and Tan,E.M.
  TITLE     Human autoantibody to RNA polymerase I transcription factor hUBF.
            Molecular identity of nucleolus organizer region autoantigen NOR-90
            and ribosomal RNA transcription upstream binding factor
  JOURNAL   J Exp Med 174 (5), 1239-1244 (1991)
   PUBMED   1940801
REFERENCE   8  (residues 1 to 764)
  AUTHORS   O'Mahony,D.J. and Rothblum,L.I.
  TITLE     Identification of two forms of the RNA polymerase I transcription
            factor UBF
  JOURNAL   Proc Natl Acad Sci U S A 88 (8), 3180-3184 (1991)
   PUBMED   2014238
REFERENCE   9  (residues 1 to 764)
  AUTHORS   Jantzen,H.M., Admon,A., Bell,S.P. and Tjian,R.
  TITLE     Nucleolar transcription factor hUBF contains a DNA-binding motif
            with homology to HMG proteins
  JOURNAL   Nature 344 (6269), 830-836 (1990)
   PUBMED   2330041
REFERENCE   10 (residues 1 to 764)
  AUTHORS   Bell,S.P., Learned,R.M., Jantzen,H.M. and Tjian,R.
  TITLE     Functional cooperativity between transcription factors UBF1 and SL1
            mediates human ribosomal RNA synthesis
  JOURNAL   Science 241 (4870), 1192-1197 (1988)
   PUBMED   3413483
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004596.2, AK291733.1 and
            BC042297.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the HMG-box DNA-binding
            protein family. The encoded protein plays a critical role in
            ribosomal RNA transcription as a key component of the
            pre-initiation complex, mediating the recruitment of RNA polymerase
            I to rDNA promoter regions. The encoded protein may also play
            important roles in chromatin remodeling and pre-rRNA processing,
            and its activity is regulated by both phosphorylation and
            acetylation. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. Pseudogenes of
            this gene are located on the short arm of chromosomes 3, 11 and X
            and the long arm of chromosome 11. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: SRR1803613.143562.1,
                                           SRR1803612.231454.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000436088.6/ ENSP00000390669.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..764
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..764
                     /product="nucleolar transcription factor 1 isoform a"
                     /note="nucleolar transcription factor 1; autoantigen
                     NOR-90; 90-kDa nucleolus organizer region autoantigen;
                     upstream binding transcription factor, RNA polymerase I"
                     /calculated_mol_wt=89275
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P17480.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Region          109..185
                     /region_name="HMG-box_UBF1_rpt1-like"
                     /note="first high mobility group (HMG)-box found in
                     upstream-binding factor 1 (UBF1) and similar proteins;
                     cd21998"
                     /db_xref="CDD:438814"
     Site            order(113..114,116..120,123..124,131,143..144,147,
                     150..151,158,162,165,169,172)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438814"
     Region          196..270
                     /region_name="HMG-box_UBF1_rpt2"
                     /note="second high mobility group (HMG)-box found in
                     upstream-binding factor 1 (UBF1) and similar proteins;
                     cd21999"
                     /db_xref="CDD:438815"
     Site            order(197..198,200..204,207..208,215,227..228,231,
                     234..235,242,246,249,253,256)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438815"
     Site            201
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Site            273
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Region          297..379
                     /region_name="HMG-box_UBF1_rpt3"
                     /note="third high mobility group (HMG)-box found in
                     upstream-binding factor 1 (UBF1) and similar proteins;
                     cd22000"
                     /db_xref="CDD:438816"
     Site            order(299..300,302..306,309..310,317,325..326,329,
                     332..333,340,344,347,351,354)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438816"
     Site            336
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P25976; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Site            364
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Region          381..411
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P17480.1)"
     Site            389
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P25976; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Region          405..470
                     /region_name="HMG-box_UBF1_rpt4"
                     /note="fourth high mobility group (HMG)-box found in
                     upstream-binding factor 1 (UBF1) and similar proteins;
                     cd22001"
                     /db_xref="CDD:438817"
     Site            order(408..409,411..415,418..419,426,438..439,442,
                     445..446,453,457,460,464,467)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438817"
     Site            412
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Site            433
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P25976; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Site            435
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Region          459..487
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P17480.1)"
     Region          479..562
                     /region_name="HMG_box_5"
                     /note="HMG (high mobility group) box 5; pfam14887"
                     /db_xref="CDD:434287"
     Site            order(483..484,486..490,493..494,501,512..513,516,
                     519..520,527,531,534,538,541)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438818"
     Site            484
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Site            495
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Region          546..576
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P17480.1)"
     Site            546
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P25976; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Region          565..650
                     /region_name="HMG-box_UBF1_rpt6-like"
                     /note="sixth high mobility group (HMG)-box found in
                     upstream-binding factor 1 (UBF1) and similar proteins;
                     cd22003"
                     /db_xref="CDD:438819"
     Site            order(569..570,572..576,579..580,587,597..598,601,
                     604..605,612,616,619,623,626)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438819"
     Site            584
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P25976; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Site            638
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P17480.1)"
     Region          648..764
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P17480.1)"
     CDS             1..764
                     /gene="UBTF"
                     /gene_synonym="CONDBA; NOR-90; UBF; UBF-1; UBF1; UBF2"
                     /coded_by="NM_014233.4:299..2593"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11480.1"
                     /db_xref="GeneID:7343"
                     /db_xref="HGNC:HGNC:12511"
                     /db_xref="MIM:600673"
ORIGIN      
        1 mngeadcptd lemaapkgqd rwsqedmltl lecmknnlps ndsskfktte shmdwekvaf
       61 kdfsgdmckl kwveisnevr kfrtltelil daqehvknpy kgkklkkhpd fpkkpltpyf
      121 rffmekraky aklhpemsnl dltkilskky kelpekkkmk yiqdfqrekq efernlarfr
      181 edhpdliqna kksdipekpk tpqqlwythe kkvylkvrpd attkevkdsl gkqwsqlsdk
      241 krlkwihkal eqrkeyeeim rdyiqkhpel niseegitks tltkaerqlk dkfdgrptkp
      301 ppnsyslyca elmanmkdvp stermvlcsq qwkllsqkek dayhkkcdqk kkdyevellr
      361 fleslpeeeq qrvlgeekml ninkkqatsp askkpaqegg kggsekpkrp vsamfifsee
      421 krrqlqeerp elseseltrl larmwndlse kkkakykare aalkaqserk pggereergk
      481 lpespkraee iwqqsvigdy larfkndrvk alkamemtwn nmekkeklmw ikkaaedqkr
      541 yerelsemra ppaatnsskk mkfqgepkkp pmngyqkfsq ellsngelnh lplkermvei
      601 gsrwqrisqs qkehykklae eqqkqykvhl dlwvkslspq draaykeyis nkrksmtklr
      661 gpnpkssrtt lqskseseed deededdede deeeeddeng dssedggdss esssedesed
      721 gdeneedded edddeddded ednesegsss sssssgdssd sdsn
//
