LOCUS       NM_005500               2522 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript
            variant 1, mRNA.
ACCESSION   NM_005500 NM_016402
VERSION     NM_005500.3
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 2522)
  AUTHORS   Shi,L., Shangguan,J., Lu,Y., Rong,J., Yang,Q., Yang,Y., Xie,C. and
            Shu,X.
  TITLE     ROS-mediated up-regulation of SAE1 by Helicobacter pylori promotes
            human gastric tumor genesis and progression
  JOURNAL   J Transl Med 22 (1), 148 (2024)
   PUBMED   38351014
  REMARK    GeneRIF: ROS-mediated up-regulation of SAE1 by Helicobacter pylori
            promotes human gastric tumor genesis and progression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2522)
  AUTHORS   Zheng,J., Wang,Y., Tao,L., Cai,J., Shen,Z., Liu,Y., Pan,H., Li,S.,
            Ruan,Y., Chen,T., Ye,Z., Lin,K., Sun,Y., Xu,J. and Liang,X.
  TITLE     Circ-RAPGEF5 promotes intrahepatic cholangiocarcinoma progression
            by stabilizing SAE1 to facilitate SUMOylation
  JOURNAL   J Exp Clin Cancer Res 42 (1), 239 (2023)
   PUBMED   37705041
  REMARK    GeneRIF: Circ-RAPGEF5 promotes intrahepatic cholangiocarcinoma
            progression by stabilizing SAE1 to facilitate SUMOylation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2522)
  AUTHORS   Chen,Y., Peng,W., Tao,Q., Li,S., Wu,Z., Zhou,Y., Xu,Q., Shu,Y.,
            Xu,Y., Shao,M., Chen,M. and Shi,Y.
  TITLE     Increased Small Ubiquitin-like Modifier-Activating Enzyme SAE1
            Promotes Hepatocellular Carcinoma by Enhancing mTOR SUMOylation
  JOURNAL   Lab Invest 103 (1), 100011 (2023)
   PUBMED   36748193
  REMARK    GeneRIF: Increased Small Ubiquitin-like Modifier-Activating Enzyme
            SAE1 Promotes Hepatocellular Carcinoma by Enhancing mTOR
            SUMOylation.
REFERENCE   4  (bases 1 to 2522)
  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 2522)
  AUTHORS   Tatham,M.H., Kim,S., Yu,B., Jaffray,E., Song,J., Zheng,J.,
            Rodriguez,M.S., Hay,R.T. and Chen,Y.
  TITLE     Role of an N-terminal site of Ubc9 in SUMO-1, -2, and -3 binding
            and conjugation
  JOURNAL   Biochemistry 42 (33), 9959-9969 (2003)
   PUBMED   12924945
REFERENCE   6  (bases 1 to 2522)
  AUTHORS   Tatham,M.H., Jaffray,E., Vaughan,O.A., Desterro,J.M., Botting,C.H.,
            Naismith,J.H. and Hay,R.T.
  TITLE     Polymeric chains of SUMO-2 and SUMO-3 are conjugated to protein
            substrates by SAE1/SAE2 and Ubc9
  JOURNAL   J Biol Chem 276 (38), 35368-35374 (2001)
   PUBMED   11451954
REFERENCE   7  (bases 1 to 2522)
  AUTHORS   Azuma,Y., Tan,S.H., Cavenagh,M.M., Ainsztein,A.M., Saitoh,H. and
            Dasso,M.
  TITLE     Expression and regulation of the mammalian SUMO-1 E1 enzyme
  JOURNAL   FASEB J 15 (10), 1825-1827 (2001)
   PUBMED   11481243
REFERENCE   8  (bases 1 to 2522)
  AUTHORS   Desterro,J.M., Rodriguez,M.S., Kemp,G.D. and Hay,R.T.
  TITLE     Identification of the enzyme required for activation of the small
            ubiquitin-like protein SUMO-1
  JOURNAL   J Biol Chem 274 (15), 10618-10624 (1999)
   PUBMED   10187858
REFERENCE   9  (bases 1 to 2522)
  AUTHORS   Gong,L., Li,B., Millas,S. and Yeh,E.T.
  TITLE     Molecular cloning and characterization of human AOS1 and UBA2,
            components of the sentrin-activating enzyme complex
  JOURNAL   FEBS Lett 448 (1), 185-189 (1999)
   PUBMED   10217437
REFERENCE   10 (bases 1 to 2522)
  AUTHORS   Okuma,T., Honda,R., Ichikawa,G., Tsumagari,N. and Yasuda,H.
  TITLE     In vitro SUMO-1 modification requires two enzymatic steps, E1 and
            E2
  JOURNAL   Biochem Biophys Res Commun 254 (3), 693-698 (1999)
   PUBMED   9920803
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC297573.1, BC018271.1 and AI339364.1.
            
            On May 17, 2019 this sequence version replaced NM_005500.2.
            
            Summary: Posttranslational modification of proteins by the addition
            of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation,
            regulates protein structure and intracellular localization. SAE1
            and UBA2 (MIM 613295) form a heterodimer that functions as a
            SUMO-activating enzyme for the sumoylation of proteins (Okuma et
            al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010].
            
            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 :: SRR1803611.37900.1,
                                           SRR1803613.4014.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270225.12/ ENSP00000270225.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                DC297573.1         13-40
            29-2077             BC018271.1         1-2049
            2078-2522           AI339364.1         5-449               c
FEATURES             Location/Qualifiers
     source          1..2522
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..2522
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /note="SUMO1 activating enzyme subunit 1"
                     /db_xref="GeneID:10055"
                     /db_xref="HGNC:HGNC:30660"
                     /db_xref="MIM:613294"
     exon            1..194
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1137
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /note="isoform a is encoded by transcript variant 1;
                     SUMO-1 activating enzyme subunit 1; activator of SUMO1;
                     SUMO-1 activating enzyme E1 N subunit;
                     sentrin/SUMO-activating protein AOS1; ubiquitin-like
                     protein SUMO-1 activating enzyme; SUMO-activating enzyme
                     subunit 1; ubiquitin-like 1-activating enzyme E1A"
                     /codon_start=1
                     /product="SUMO-activating enzyme subunit 1 isoform a"
                     /protein_id="NP_005491.1"
                     /db_xref="CCDS:CCDS12696.1"
                     /db_xref="GeneID:10055"
                     /db_xref="HGNC:HGNC:30660"
                     /db_xref="MIM:613294"
                     /translation="MVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGL
                     KGLGAEIAKNLILAGVKGLTMLDHEQVTPEDPGAQFLIRTGSVGRNRAEASLERAQNL
                     NPMVDVKVDTEDIEKKPESFFTQFDAVCLTCCSRDVIVKVDQICHKNSIKFFTGDVFG
                     YHGYTFANLGEHEFVEEKTKVAKVSQGVEDGPDTKRAKLDSSETTMVKKKVVFCPVKE
                     ALEVDWSSEKAKAALKRTTSDYFLLQVLLKFRTDKGRDPSSDTYEEDSELLLQIRNDV
                     LDSLGISPDLLPEDFVRYCFSEMAPVCAVVGGILAQEIVKALSQRDPPHNNFFFFDGM
                     KGNGIVECLGPK"
     exon            195..306
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /inference="alignment:Splign:2.1.0"
     exon            307..480
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /inference="alignment:Splign:2.1.0"
     exon            481..623
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /inference="alignment:Splign:2.1.0"
     exon            624..723
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /inference="alignment:Splign:2.1.0"
     exon            724..829
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /inference="alignment:Splign:2.1.0"
     exon            830..974
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1044
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..2522
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2056..2061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /note="hexamer: AATAAA"
     polyA_site      2077
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /note="major polyA site"
     regulatory      2496..2501
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
                     /note="hexamer: AATAAA"
     polyA_site      2522
                     /gene="SAE1"
                     /gene_synonym="AOS1; HSPC140; SUA1; UBLE1A"
ORIGIN      
        1 actccgggcg tgctgccggc ggcggtaggt ggcgcgcggg tccggcgggc ggttggcttg
       61 agcgggaccg gagctgaggc aggaagagcc ggcgccatgg tggagaagga ggaggctggc
      121 ggcggcatta gcgaggagga ggcggcacag tatgaccggc agatccgcct gtggggactg
      181 gaggcccaga aacggctgcg ggcctctcgg gtgcttcttg tcggcttgaa aggacttggg
      241 gctgaaattg ccaagaatct catcttggca ggagtgaaag gactgaccat gctggatcac
      301 gaacaggtaa ctccagaaga tcccggagct cagttcttga ttcgtactgg gtctgttggc
      361 cgaaataggg ctgaagcctc tttggagcga gctcagaatc tcaaccccat ggtggatgtg
      421 aaggtggaca ctgaggatat agagaagaaa ccagagtcat ttttcactca attcgatgct
      481 gtgtgtctga cttgctgctc cagggatgtc atagttaaag ttgaccagat ctgtcacaaa
      541 aatagcatca agttctttac aggagatgtt tttggctacc atggatacac atttgccaat
      601 ctaggagagc atgagtttgt agaggagaaa actaaagttg ccaaagttag ccaaggagta
      661 gaagatgggc ccgacaccaa gagagcaaaa cttgattctt ctgagacaac gatggtcaaa
      721 aagaaggtgg tcttctgccc tgttaaagaa gccctggagg tggactggag cagtgagaaa
      781 gcaaaggctg ctctgaagcg cacgacctcc gactactttc tccttcaagt gctcttaaag
      841 ttccgtacag ataaaggaag agatcccagt tctgatacat atgaggaaga ttctgagttg
      901 ttgctccaga tacgaaatga tgtgcttgac tcactgggta ttagtcctga cctgcttcct
      961 gaggactttg tcaggtactg cttctccgag atggccccag tgtgtgcggt ggttggaggg
     1021 attttggcac aggaaattgt gaaggccctg tctcagcggg accctcctca caacaacttc
     1081 ttcttcttcg atggcatgaa ggggaatggg attgtggagt gccttggccc caagtgaact
     1141 caagatttgg cagccccaga gatgccaact gcagcatgcc cacctgtatt ccctgtcccc
     1201 ttccttcatg aaggcatctc caggcaagga aaactgaagt cattggcccg atacaaaaca
     1261 tttcctgcaa cgaaggaggt ggtgccgacg tgctgcttcc catcaccagc agctgctcga
     1321 caaggggcgc agggtggctg tctttgttcc agcactgttc aggctgcctg tcatcccggg
     1381 cctgccagct cccctgagtg atgagcactt ccaagcaccc ctctgccctt tctctgtcct
     1441 tatgctgtcc cggcctcgcc agccctctgg ggcattgtgg gagatgcctg ccaggaatga
     1501 gcaagctctg ttgctcggga gcctcttgtc accttcttgg acttattccc cacctgatac
     1561 cttatagaga aaagtgtgaa ttcaggtgga gagtaggccc aggccccatg aggcaccagt
     1621 ggaagcacag ctccaagttc agacaggtgc ccttagagag gaaaaccatg acaggcaaat
     1681 gcatttcctc tggagtttga gaccctgaca aacaacaggt ggcatctggt gtgctgttct
     1741 tgagttttcg tttaggatta gttgagttcc agctgggttt tgggagaaag gagatgctac
     1801 caagtcttgg atgttagggc gagaccctgc aagttgagta ttagagagct tgtctttcaa
     1861 ggcaggttcc tggggcttca gggctaggag ggaggagcct gcccttttaa cagaacccca
     1921 gtcacatgcg gctcaagtca ctcagaggct gttgcatttc agggctatgt tggtcctttg
     1981 tttacctcct aaaccacagc tgtttgtgtt tcacatatgt tgtgaatttt ccttggttct
     2041 ttttaaagga atgataataa agttacttgc tttaggattt gcttgttttt cttccacttc
     2101 agaagcttct gagagggaat gggatgatcc taccagttgc cttttcagac ctgaggctct
     2161 aactcaagag attcctcctc tccctcacca ttcctgccac cattttttct gggtgatgca
     2221 gcaagagtta aattgttcac attctagaat gtgtagaagc ttctggctcc agttgtctaa
     2281 tggataattc agctaaatag tggctatttt cagtggcaag aattataata ataaagggaa
     2341 gtcaaaagtg atgcttcata tgccccaagt gccacagccg ctacgggtca gagcttttat
     2401 tggaagacca ggtttgcctt gatgcagcca aagtgcgttc cagttcaccc cactcttgct
     2461 tgtgtttctt ctttatgtaa attgtgtgat gtttcaataa atcagtctct ttcctattct
     2521 ga
//
