LOCUS       NM_014303               2265 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens pescadillo ribosomal biogenesis factor 1 (PES1),
            transcript variant 1, mRNA.
ACCESSION   NM_014303
VERSION     NM_014303.4
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  (bases 1 to 2265)
  AUTHORS   Zhou,J., Lu,Y., Lin,Y., Li,C., Liu,J., Jiang,Z. and Chen,K.
  TITLE     Overexpression of hepatic pescadillo 1 in obesity induces lipid
            dysregulation by inhibiting autophagy
  JOURNAL   Transl Res 258, 1-15 (2023)
   PUBMED   36775058
  REMARK    GeneRIF: Overexpression of hepatic pescadillo 1 in obesity induces
            lipid dysregulation by inhibiting autophagy.
REFERENCE   2  (bases 1 to 2265)
  AUTHORS   He,Y., Xiang,J., Li,Y., Huang,W., Gu,F., Wang,Y. and Chen,R.
  TITLE     PES1 is a biomarker of head and neck squamous cell carcinoma and is
            associated with the tumor microenvironment
  JOURNAL   Cancer Med 12 (11), 12622-12638 (2023)
   PUBMED   37076985
  REMARK    GeneRIF: PES1 is a biomarker of head and neck squamous cell
            carcinoma and is associated with the tumor microenvironment.
REFERENCE   3  (bases 1 to 2265)
  AUTHORS   Li,D., Yao,C., Ding,Z., Liu,P., Chen,X., Liu,W., Yi,F., Jiang,C.,
            Li,H., Liu,Y. and Wu,J.
  TITLE     Pescadillo ribosomal biogenesis factor 1 reduction suppresses
            tumour growth and renders chemosensitivity of head and neck
            squamous cell carcinoma
  JOURNAL   Cancer Med 12 (5), 5703-5717 (2023)
   PUBMED   36217758
  REMARK    GeneRIF: Pescadillo ribosomal biogenesis factor 1 reduction
            suppresses tumour growth and renders chemosensitivity of head and
            neck squamous cell carcinoma.
REFERENCE   4  (bases 1 to 2265)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 2265)
  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   6  (bases 1 to 2265)
  AUTHORS   Li,J., Yu,L., Zhang,H., Wu,J., Yuan,J., Li,X. and Li,M.
  TITLE     Down-regulation of pescadillo inhibits proliferation and
            tumorigenicity of breast cancer cells
  JOURNAL   Cancer Sci 100 (12), 2255-2260 (2009)
   PUBMED   19764998
  REMARK    GeneRIF: pescadillo might play a role in promoting the
            proliferation and carcinogenesis of human breast cancer, and
            thereby might be a potential target for human breast cancer
            treatment.
            Erratum:[Cancer Sci. 2021 Nov;112(11):4812. doi:
            10.1111/cas.15148.. PMID: 34766426]
REFERENCE   7  (bases 1 to 2265)
  AUTHORS   Oeffinger,M., Leung,A., Lamond,A. and Tollervey,D.
  TITLE     Yeast Pescadillo is required for multiple activities during 60S
            ribosomal subunit synthesis
  JOURNAL   RNA 8 (5), 626-636 (2002)
   PUBMED   12022229
  REMARK    Erratum:[RNA 2002 Jun;8(6):851. Lueng Anthony [corrected to Leung
            Anthony]]
REFERENCE   8  (bases 1 to 2265)
  AUTHORS   Suzuki,Y., Tsunoda,T., Sese,J., Taira,H., Mizushima-Sugano,J.,
            Hata,H., Ota,T., Isogai,T., Tanaka,T., Nakamura,Y., Suyama,A.,
            Sakaki,Y., Morishita,S., Okubo,K. and Sugano,S.
  TITLE     Identification and characterization of the potential promoter
            regions of 1031 kinds of human genes
  JOURNAL   Genome Res 11 (5), 677-684 (2001)
   PUBMED   11337467
REFERENCE   9  (bases 1 to 2265)
  AUTHORS   Kinoshita,Y., Jarell,A.D., Flaman,J.M., Foltz,G., Schuster,J.,
            Sopher,B.L., Irvin,D.K., Kanning,K., Kornblum,H.I., Nelson,P.S.,
            Hieter,P. and Morrison,R.S.
  TITLE     Pescadillo, a novel cell cycle regulatory protein abnormally
            expressed in malignant cells
  JOURNAL   J Biol Chem 276 (9), 6656-6665 (2001)
   PUBMED   11071894
REFERENCE   10 (bases 1 to 2265)
  AUTHORS   Allende,M.L., Amsterdam,A., Becker,T., Kawakami,K., Gaiano,N. and
            Hopkins,N.
  TITLE     Insertional mutagenesis in zebrafish identifies two novel genes,
            pescadillo and dead eye, essential for embryonic development
  JOURNAL   Genes Dev 10 (24), 3141-3155 (1996)
   PUBMED   8985183
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU098520.1, U78310.1 and
            BQ576244.1.
            
            On Nov 23, 2018 this sequence version replaced NM_014303.3.
            
            Summary: This gene encodes a nuclear protein that contains a breast
            cancer associated gene 1 (BRCA1) C-terminal interaction domain. The
            encoded protein interacts with BOP1 and WDR12 to form the PeBoW
            complex, which plays a critical role in cell proliferation via
            pre-rRNA processing and 60S ribosomal subunit maturation.
            Expression of this gene may play an important role in breast cancer
            proliferation and tumorigenicity. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene. Pseudogenes of this gene are located on the long arm of
            chromosome 4 and the short arm of chromosome 9. [provided by
            RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            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 :: SRR3476690.245308.1,
                                           SRR3476690.552436.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354694.12/ ENSP00000346725.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AU098520.1         31-67
            38-2254             U78310.1           19-2235
            2255-2265           BQ576244.1         18-28               c
FEATURES             Location/Qualifiers
     source          1..2265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2265
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /note="pescadillo ribosomal biogenesis factor 1"
                     /db_xref="GeneID:23481"
                     /db_xref="HGNC:HGNC:8848"
                     /db_xref="MIM:605819"
     exon            1..101
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1844
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pescadillo homolog 1, containing BRCT domain"
                     /codon_start=1
                     /product="pescadillo homolog isoform 1"
                     /protein_id="NP_055118.1"
                     /db_xref="CCDS:CCDS13880.1"
                     /db_xref="GeneID:23481"
                     /db_xref="HGNC:HGNC:8848"
                     /db_xref="MIM:605819"
                     /translation="MGGLEKKKYERGSATNYITRNKARKKLQLSLADFRRLCILKGIY
                     PHEPKHKKKVNKGSTAARTFYLIKDIRFLLHEPIVNKFREYKVFVRKLRKAYGKSEWN
                     TVERLKDNKPNYKLDHIIKERYPTFIDALRDLDDALSMCFLFSTFPRTGKCHVQTIQL
                     CRRLTVEFMHYIIAARALRKVFLSIKGIYYQAEVLGQPIVWITPYAFSHDHPTDVDYR
                     VMATFTEFYTTLLGFVNFRLYQLLNLHYPPKLEGQAQAEAKAGEGTYALDSESCMEKL
                     AALSASLARVVVPATEEEAEVDEFPTDGEMSAQEEDRRKELEAQEKHKKLFEGLKFFL
                     NREVPREALAFIIRSFGGEVSWDKSLCIGATYDVTDSRITHQIVDRPGQQTSVIGRCY
                     VQPQWVFDSVNARLLLPVAEYFSGVQLPPHLSPFVTEKEGDYVPPEKLKLLALQRGED
                     PGNLNESEEEEEEDDNNEGDGDEEGENEEEEEDAEAGSEKEEEARLAALEEQRMEGKK
                     PRVMAGTLKLEDKQRLAQEEESEAKRLAIMMMKKREKYLYQKIMFGKRRKIREANKLA
                     EKRKAHDEAVRSEKKAKKARPE"
     exon            102..181
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            182..335
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            336..445
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            446..617
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            618..707
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            708..824
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            825..899
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            900..989
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1120
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1246
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1431
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1598
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1760
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     exon            1761..2265
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2235..2240
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /note="hexamer: ATTAAA"
     polyA_site      2265
                     /gene="PES1"
                     /gene_synonym="NOP7; PES"
                     /note="major polyA site"
ORIGIN      
        1 gtccttggca gggcacgtgc gggaggaagt ggagctccct gtacgcgcgg ccctagtcgg
       61 ctcctcaacg tggagcgatg ggaggccttg agaagaagaa gtatgaacga ggctcggcca
      121 ccaactacat cacccggaac aaagcccgga agaagctcca gctgagcttg gctgacttta
      181 ggcggctgtg cattctgaag ggcatttatc cccatgaacc caaacacaag aagaaggtta
      241 acaagggttc tacagcagcc cgaacgtttt accttatcaa agacatcagg tttctcctcc
      301 acgaacccat tgtcaacaag ttccgtgaat acaaggtgtt cgtccggaag ctccggaagg
      361 cttatgggaa gagcgagtgg aacactgtag agcgtttaaa ggacaataag cccaactaca
      421 aactcgacca catcatcaag gaacggtatc ccacgttcat cgatgccctg cgggacctgg
      481 acgatgccct ctccatgtgc ttcctgtttt ccaccttccc gcggactggc aagtgccacg
      541 tgcagaccat tcagctgtgc cgccggctca ctgtggagtt catgcactac attatcgctg
      601 cccgtgccct gcgcaaggtc ttcctgtcca tcaaaggcat ttactaccag gccgaggtac
      661 tggggcagcc catcgtgtgg atcactccct atgccttctc ccatgaccac ccgacagacg
      721 tggactacag ggtcatggcc accttcaccg agttctacac cacgctgctg ggctttgtca
      781 acttccgcct ttaccagttg ctcaacctcc actatccccc gaagctcgag ggtcaggccc
      841 aagcagaggc aaaggccggt gagggcacct acgcgttgga ctccgagagt tgtatggaga
      901 aactggcagc cctcagtgcc agcctggccc gcgtggtggt gcctgccaca gaggaggagg
      961 ccgaggtgga tgagtttccc accgatgggg agatgtcagc gcaggaggaa gaccgcagga
     1021 aggagctgga ggcgcaggag aagcacaaga agctttttga gggcctgaag ttcttcctga
     1081 accgagaggt gccccgtgag gccctggcct tcatcatcag gagttttggt ggggaagtgt
     1141 cctgggacaa atctttgtgc attggggcca cctatgacgt cacagactcc cgcatcaccc
     1201 atcagattgt cgaccggcct gggcagcaga cctcagtcat tggcaggtgc tacgtgcagc
     1261 cccagtgggt gtttgactca gtgaacgcca ggctccttct ccccgtggca gagtacttct
     1321 ctggggtgca gctgccccca cacctttcac cctttgtgac cgagaaggaa ggagattacg
     1381 ttccacctga gaagctgaag ctgctggctc tgcagcgggg agaggaccca ggaaacctga
     1441 atgagtcaga agaggaggag gaagaggacg acaacaacga aggtgatggt gatgaagagg
     1501 gagaaaatga ggaggaggag gaagatgcag aggctggttc agaaaaggag gaagaggccc
     1561 ggctggcagc cctggaagag cagaggatgg aggggaagaa gcccagggtg atggcaggca
     1621 ccttgaagct ggaggataag cagcggctgg cccaggagga ggagagtgag gccaagcgcc
     1681 tggccattat gatgatgaag aagcgggaga agtacctgta ccagaagatc atgtttggca
     1741 agaggcgaaa aatccgagag gccaacaagc tggcggagaa gcggaaagcc cacgatgagg
     1801 cggtgaggtc tgagaagaag gccaagaagg caaggccgga gtgagtgcct gcggcccctc
     1861 acagggctga ggccagcccc tagcagctgg atgtggcaga ggcaggccag aggacctaag
     1921 tgtgatggac cagagtcact tctcctcctc ctttctccag ccagccctga cccctcatgc
     1981 tctctggctg ggccagtggg cagccctcgc ttcccttgga tggagctgcc ctgctggtgc
     2041 ctggtcagag aagaggcctc tgtgcccagc ctgattctct gctcccagga gccagtgaca
     2101 tgaggtgcag aggcccaccc agccccctac ctactgcccc cattcatcct ggctttccac
     2161 agccccctcc cacacagttg gacccgtgat tctcagggtg ctgtgatggg gtgagggtag
     2221 ggggagcatt tgttattaaa tgactggact tttgtgccaa ttgca
//
