LOCUS       NM_015485               1180 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1,
            mRNA.
ACCESSION   NM_015485
VERSION     NM_015485.5
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 1180)
  AUTHORS   Fuertes,M., Elguero,B., Gonilski-Pacin,D., Herbstein,F.,
            Rosmino,J., Ciancio Del Giudice,N., Fiz,M., Falcucci,L. and Arzt,E.
  TITLE     Impact of RSUME Actions on Biomolecular Modifications in
            Physio-Pathological Processes
  JOURNAL   Front Endocrinol (Lausanne) 13, 864780 (2022)
   PUBMED   35528020
  REMARK    GeneRIF: Impact of RSUME Actions on Biomolecular Modifications in
            Physio-Pathological Processes.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1180)
  AUTHORS   Tedesco,L., Elguero,B., Pacin,D.G., Senin,S., Pollak,C., Garcia
            Marchinena,P.A., Jurado,A.M., Isola,M., Labanca,M.J., Palazzo,M.,
            Yankilevich,P., Fuertes,M. and Arzt,E.
  TITLE     von Hippel-Lindau mutants in renal cell carcinoma are regulated by
            increased expression of RSUME
  JOURNAL   Cell Death Dis 10 (4), 266 (2019)
   PUBMED   30890701
  REMARK    GeneRIF: The results show RSUME involvement in von Hippel-Lindau
            mutants deregulation that leads to the angiogenic phenotype of
            renal cell carcinoma tumors.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1180)
  AUTHORS   Chen,X., Kuang,W., Huang,H., Li,B., Zhu,Y., Zhou,B. and Yan,L.
  TITLE     Knockdown of RWD domain containing 3 inhibits the malignant
            phenotypes of glioblastoma cells via inhibition of phosphoinositide
            3-kinase/protein kinase B signaling
  JOURNAL   Exp Ther Med 16 (1), 384-393 (2018)
   PUBMED   29977365
REFERENCE   4  (bases 1 to 1180)
  AUTHORS   Fuertes,M., Sapochnik,M., Tedesco,L., Senin,S., Attorresi,A.,
            Ajler,P., Carrizo,G., Cervio,A., Sevlever,G., Bonfiglio,J.J.,
            Stalla,G.K. and Arzt,E.
  TITLE     Protein stabilization by RSUME accounts for PTTG pituitary tumor
            abundance and oncogenicity
  JOURNAL   Endocr Relat Cancer 25 (6), 665-676 (2018)
   PUBMED   29622689
  REMARK    GeneRIF: We found that PTTG overexpression in pituitary tumor cells
            is explained by its protein stabilization, is regulated by RSUME
            and accounts for PTTG tumor abundance and pathogenic action. There
            is no evidence so far that this mechanism operates in normal cells.
            This finding puts in a central role the protein
            stabilization-overexpression of proto-oncogenes as major regulators
            of cellular dysfunction.
REFERENCE   5  (bases 1 to 1180)
  AUTHORS   He,W., Huang,L., Shen,X., Yang,Y., Wang,D., Yang,Y. and Zhu,X.
  TITLE     Relationship between RSUME and HIF-1alpha/VEGF-A with invasion of
            pituitary adenoma
  JOURNAL   Gene 603, 54-60 (2017)
   PUBMED   27989771
  REMARK    GeneRIF: RSUME affects post-transcriptional expression of HIF-1a by
            regulating VEGF-A secretion and pituitary adenoma cells
            invasiveness.
REFERENCE   6  (bases 1 to 1180)
  AUTHORS   Bergmann,T.K., Vach,W., Feddersen,S., Eckhoff,L., Green,H.,
            Herrstedt,J. and Brosen,K.
  TITLE     GWAS-based association between RWDD3 and TECTA variants and
            paclitaxel induced neuropathy could not be confirmed in
            Scandinavian ovarian cancer patients
  JOURNAL   Acta Oncol 52 (4), 871-874 (2013)
   PUBMED   22877241
  REMARK    GeneRIF: this study failed to replicate a GWAS reporting an
            association between the 2 SNPs rs2296308 in RWDD3 and rs1829 in the
            intron of TECTA and time to neuropathy in ovarian cancer patients
            treated with paclitaxel
REFERENCE   7  (bases 1 to 1180)
  AUTHORS   Wu,J.H., Lemaitre,R.N., Manichaikul,A., Guan,W., Tanaka,T., Foy,M.,
            Kabagambe,E.K., Djousse,L., Siscovick,D., Fretts,A.M., Johnson,C.,
            King,I.B., Psaty,B.M., McKnight,B., Rich,S.S., Chen,Y.D.,
            Nettleton,J.A., Tang,W., Bandinelli,S., Jacobs,D.R. Jr.,
            Browning,B.L., Laurie,C.C., Gu,X., Tsai,M.Y., Steffen,L.M.,
            Ferrucci,L., Fornage,M. and Mozaffarian,D.
  TITLE     Genome-wide association study identifies novel loci associated with
            concentrations of four plasma phospholipid fatty acids in the de
            novo lipogenesis pathway: results from the Cohorts for Heart and
            Aging Research in Genomic Epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 6 (2), 171-183 (2013)
   PUBMED   23362303
REFERENCE   8  (bases 1 to 1180)
  AUTHORS   Shan,B., Gerez,J., Haedo,M., Fuertes,M., Theodoropoulou,M.,
            Buchfelder,M., Losa,M., Stalla,G.K., Arzt,E. and Renner,U.
  TITLE     RSUME is implicated in HIF-1-induced VEGF-A production in pituitary
            tumour cells
  JOURNAL   Endocr Relat Cancer 19 (1), 13-27 (2012)
   PUBMED   22009797
  REMARK    GeneRIF: RSUME critically regulates HIF-1a and VEGF-A production
            and thus might play an important role in pituitary tumour
            neovascularisation
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1180)
  AUTHORS   Giacomini,D., Haedo,M., Gerez,J., Druker,J., Paez-Pereda,M.,
            Labeur,M., Stalla,G.K. and Arzt,E.
  TITLE     Differential gene expression in models of pituitary
            prolactin-producing tumoral cells
  JOURNAL   Horm Res 71 Suppl 2, 88-94 (2009)
   PUBMED   19407504
  REMARK    GeneRIF: BMP-4 and RSUME may be interesting targets for inhibiting
            steps involved in pituitary tumorigenesis.
            Review article
REFERENCE   10 (bases 1 to 1180)
  AUTHORS   Carbia-Nagashima,A., Gerez,J., Perez-Castro,C., Paez-Pereda,M.,
            Silberstein,S., Stalla,G.K., Holsboer,F. and Arzt,E.
  TITLE     RSUME, a small RWD-containing protein, enhances SUMO conjugation
            and stabilizes HIF-1alpha during hypoxia
  JOURNAL   Cell 131 (2), 309-323 (2007)
   PUBMED   17956732
  REMARK    GeneRIF: RSUME plays a central role in the regulation of
            sumoylation and, hence, several critical regulatory pathways in
            mammalian cells [RSUME].
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092802.2.
            
            On Nov 23, 2018 this sequence version replaced NM_015485.4.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR5189667.133756.1,
                                           SRR1803612.468666.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370202.5/ ENSP00000359221.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-106               AC092802.2         109132-109237
            107-594             AC092802.2         119133-119620
            595-710             AC092802.2         121464-121579
            711-1180            AC092802.2         121678-122147
FEATURES             Location/Qualifiers
     source          1..1180
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.3"
     gene            1..1180
                     /gene="RWDD3"
                     /gene_synonym="RSUME"
                     /note="RWD domain containing 3"
                     /db_xref="GeneID:25950"
                     /db_xref="HGNC:HGNC:21393"
                     /db_xref="MIM:615875"
     exon            1..106
                     /gene="RWDD3"
                     /gene_synonym="RSUME"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..825
                     /gene="RWDD3"
                     /gene_synonym="RSUME"
                     /note="isoform a is encoded by transcript variant 1;
                     RWD-containing sumoylation enhancer; RWD domain-containing
                     protein 3; RWD domain-containing sumoylation enhancer"
                     /codon_start=1
                     /product="RWD domain-containing protein 3 isoform a"
                     /protein_id="NP_056300.3"
                     /db_xref="CCDS:CCDS41357.1"
                     /db_xref="GeneID:25950"
                     /db_xref="HGNC:HGNC:21393"
                     /db_xref="MIM:615875"
                     /translation="MAEPVQEELSVLAAIFCRPHEWEVLSRSETDGTVFRIHTKAEGF
                     MDVDIPLELVFHLPVNYPSCLPGISINSEQLTRAQCVTVKENLLEQAESLLSEPMVHE
                     LVLWIQQNLRHILSQPETGSGSEKCTFSTSTTMDDGLWITLLHLDHMRAKTKYVKIVE
                     KWASDLRLTGRLMFMGKIILILLQGDRNNLKEYLILQKTSKVDVDSSGKKCKEKMISV
                     LFETKVQTEHKRFLAFEVKEYSALDELQKEFETAGLKKLFSEFVLALVK"
     exon            107..594
                     /gene="RWDD3"
                     /gene_synonym="RSUME"
                     /inference="alignment:Splign:2.1.0"
     exon            595..710
                     /gene="RWDD3"
                     /gene_synonym="RSUME"
                     /inference="alignment:Splign:2.1.0"
     exon            711..1180
                     /gene="RWDD3"
                     /gene_synonym="RSUME"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1158..1163
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RWDD3"
                     /gene_synonym="RSUME"
                     /note="hexamer: ATTAAA"
     polyA_site      1180
                     /gene="RWDD3"
                     /gene_synonym="RSUME"
                     /note="major polyA site"
ORIGIN      
        1 gaggcggtgg ggcccacagc catggcggag cctgtgcagg aggagctctc ggtcctggcc
       61 gcgattttct gcaggcccca cgagtgggag gtgctgagcc gctcagagac agatgggacc
      121 gtgttcagaa ttcacacaaa agctgaagga tttatggatg tggatatacc tctggaattg
      181 gtgttccatt tgccagtcaa ttatccttca tgtctacctg gtatctcgat taactctgaa
      241 cagttgacca gggcccagtg tgtgactgtg aaagagaatt tacttgagca agcagagagc
      301 cttttgtcgg agcctatggt tcatgagctg gttctctgga ttcagcagaa tctcaggcat
      361 atcctcagcc aaccagaaac tggcagtggc agtgaaaagt gtactttttc aacaagcacg
      421 accatggatg atggattgtg gataactctt ttgcatttag atcacatgag agcaaagact
      481 aaatatgtca aaattgtgga gaagtgggct tcagatttaa ggctgacagg aagactgatg
      541 ttcatgggta aaataatact gattttacta cagggagaca gaaacaacct caaggagtac
      601 ttgattcttc agaaaacctc caaagtagat gtggactcaa gtggaaagaa atgcaaagag
      661 aaaatgatta gtgtactgtt tgaaacaaaa gtacagacag aacacaaaag gtttctggca
      721 tttgaagtca aagagtattc agcgttggat gaattacaaa aggaatttga aactgcagga
      781 cttaagaagc ttttctccga atttgtactt gctctggtaa aatgaaatgg aagacaggaa
      841 tcttttagta aaatagcagt gttttttgtt gtttttgcat tggatttggg gagtggttaa
      901 ttgaaatagt caattttaaa gtttctctga agcaaaatga taggcatcat tctaacttca
      961 ggaacaaaag ccagttctgt tttatgaaat attaaacatg aagaaaactt gtatattcta
     1021 atgtttgcca ggaaaggcta ggttcagtag atgagacatt atttaaaaga taaatttaaa
     1081 aagatggtaa atgaacactt gtttttatag acaatatttg tttgaaacta tgtaattttc
     1141 tggctaattt tcttgtaatt aaatgatttt ttaaaaaaga
//
