LOCUS       NM_001366232            1542 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ubiquitin conjugating enzyme E2 U (UBE2U), transcript
            variant 1, mRNA.
ACCESSION   NM_001366232 XM_005270498
VERSION     NM_001366232.2
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 1542)
  AUTHORS   Doucette,L.P., Noel,N.C.L., Zhai,Y., Xu,M., Caluseriu,O.,
            Hoang,S.C., Radziwon,A.J. and MacDonald,I.M.
  TITLE     Whole exome sequencing reveals putatively novel associations in
            retinopathies and drusen formation
  JOURNAL   Eur J Hum Genet 29 (8), 1171-1185 (2021)
   PUBMED   33776059
  REMARK    GeneRIF: Whole exome sequencing reveals putatively novel
            associations in retinopathies and drusen formation.
REFERENCE   2  (bases 1 to 1542)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1542)
  AUTHORS   Guo,Y., An,L., Ng,H.M., Sy,S.M. and Huen,M.S.
  TITLE     An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator
            of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and
            Learning Difficulties (RIDDLE) Syndrome Protein RNF168
  JOURNAL   J Biol Chem 292 (3), 967-978 (2017)
   PUBMED   27903633
  REMARK    GeneRIF: Further mining of the UBE2U interactome uncovered its
            cognate E3 RNF17 as a novel factor that, via the radiosensitivity,
            immunodeficiency, dysmorphic features, and learning difficulties
            (RIDDLE) syndrome protein RNF168, enforces DNA damage responses.
REFERENCE   4  (bases 1 to 1542)
  AUTHORS   Sheng,Y., Hong,J.H., Doherty,R., Srikumar,T., Shloush,J.,
            Avvakumov,G.V., Walker,J.R., Xue,S., Neculai,D., Wan,J.W.,
            Kim,S.K., Arrowsmith,C.H., Raught,B. and Dhe-Paganon,S.
  TITLE     A human ubiquitin conjugating enzyme (E2)-HECT E3 ligase
            structure-function screen
  JOURNAL   Mol Cell Proteomics 11 (8), 329-341 (2012)
   PUBMED   22496338
REFERENCE   5  (bases 1 to 1542)
  AUTHORS   Markson,G., Kiel,C., Hyde,R., Brown,S., Charalabous,P., Bremm,A.,
            Semple,J., Woodsmith,J., Duley,S., Salehi-Ashtiani,K., Vidal,M.,
            Komander,D., Serrano,L., Lehner,P. and Sanderson,C.M.
  TITLE     Analysis of the human E2 ubiquitin conjugating enzyme protein
            interaction network
  JOURNAL   Genome Res 19 (10), 1905-1911 (2009)
   PUBMED   19549727
REFERENCE   6  (bases 1 to 1542)
  AUTHORS   van Wijk,S.J., de Vries,S.J., Kemmeren,P., Huang,A., Boelens,R.,
            Bonvin,A.M. and Timmers,H.T.
  TITLE     A comprehensive framework of E2-RING E3 interactions of the human
            ubiquitin-proteasome system
  JOURNAL   Mol Syst Biol 5, 295 (2009)
   PUBMED   19690564
  REMARK    Erratum:[Mol Syst Biol. 2009;5:317]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445205.14 and AL161916.8.
            
            On Jun 2, 2019 this sequence version replaced NM_001366232.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.196002.1,
                                           SRR5189667.104136.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371077.10/ ENSP00000360117.5
            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
            1-494               AL445205.14        107995-108488
            495-576             AL445205.14        110011-110092
            577-669             AL445205.14        111136-111228
            670-767             AL445205.14        115114-115211
            768-885             AL161916.8         95782-95899         c
            886-934             AL161916.8         89807-89855         c
            935-1023            AL161916.8         78065-78153         c
            1024-1105           AL161916.8         68981-69062         c
            1106-1197           AL161916.8         50020-50111         c
            1198-1542           AL161916.8         43346-43690         c
FEATURES             Location/Qualifiers
     source          1..1542
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..1542
                     /gene="UBE2U"
                     /note="ubiquitin conjugating enzyme E2 U"
                     /db_xref="GeneID:148581"
                     /db_xref="HGNC:HGNC:28559"
     exon            1..494
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     CDS             429..1382
                     /gene="UBE2U"
                     /EC_number="2.3.2.23"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ubiquitin-protein ligase U; ubiquitin carrier protein U;
                     E2 ubiquitin-conjugating enzyme U; ubiquitin conjugating
                     enzyme E2U (putative); testicular tissue protein Li 216;
                     ubiquitin conjugating enzyme E2 U (putative)"
                     /codon_start=1
                     /product="ubiquitin-conjugating enzyme E2 U isoform 1"
                     /protein_id="NP_001353161.1"
                     /db_xref="CCDS:CCDS90966.1"
                     /db_xref="GeneID:148581"
                     /db_xref="HGNC:HGNC:28559"
                     /translation="MHGRAYLLLHRDFCDLKENNYKGITAKPVSEDMMEWEVEIEGLQ
                     NSVWQGLVFQLTIHFTSEYNYAPPVVKFITIPFHPNVDPHTGQPCIDFLDNPEKWNTN
                     YTLSSILLALQVMLSNPVLENPVNLEAARILVKDESLYRTILRLFNRPLQMKDDSQEL
                     PKDPRKCIRPIKTTSFSDYYQTWSRIATSKATEYYRTPLLKVPNFIGQYYKWKKMDLQ
                     HQKEWNLKYSVIKCWLARKRMPHEVTHSMEEIKLCPTLNEIFLESPTAINSITDIYET
                     EEEGWKSDTSLYENDTDEPREEEVEDLISWTNTLNTNTSED"
     exon            495..576
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     exon            577..669
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     exon            670..767
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     exon            768..885
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     exon            886..934
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1023
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1105
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1197
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..1542
                     /gene="UBE2U"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1521..1526
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBE2U"
                     /note="hexamer: AATATA"
     polyA_site      1542
                     /gene="UBE2U"
                     /note="major polyA site"
ORIGIN      
        1 aaccgatttg cttcctccgg tgcgtggctg cggggttgca cctgtgaagc gaagacaacc
       61 tgctaggacc ctgataggcg tacacctctc actcccactc acgcgccgac gacatgggct
      121 tgtctccgtt actcatccaa gtttgtcttg agactgggct gtgagccggc actgcagtga
      181 aacgccgcag atgaggaagt gcccaagtct tccttcggga agttctcgtt tagaggagtc
      241 aggagaaaaa gtcattgtta tatcccaact ttagaagccg cttatcttgg taccgttctg
      301 aggttctaga aagcaagtaa cttatatcag tttactaagt gtgggaaagt gacccataac
      361 ttcaaacatc tgcctcagag taaacctgag gcatttgggg acaagtgtca gaccctccgc
      421 tgcctatcat gcacggcaga gcttacctct tgctgcacag agacttctgt gatctcaagg
      481 agaacaatta taagggtatc actgctaagc ctgtaagtga agatatgatg gaatgggaag
      541 ttgaaattga aggtctacag aattcagttt ggcagggttt agtcttccaa ctgacaatac
      601 attttacatc ggagtacaac tatgctcctc cagttgtgaa atttataaca attccgtttc
      661 atccaaatgt agacccacac actggtcagc cctgtataga ctttttggac aaccctgaga
      721 agtggaatac aaactataca ttgagcagca tcttacttgc cctacaggtt atgctttcta
      781 atccagtgct agagaatcca gtgaatttgg aagcagccag aatactggtt aaagatgaat
      841 ctctgtacag aacaattcta agacttttca acaggccatt acaaatgaaa gatgacagcc
      901 aggagttacc taaagaccca cgtaaatgta tcagaccaat taaaacaacc tcatttagtg
      961 attactacca gacatggtcc agaatagcta catcaaaagc cacagaatac tacagaactc
     1021 cattgctcaa agttccaaat ttcattggac agtattacaa atggaagaaa atggatctac
     1081 agcatcagaa agaatggaat ttaaagtatt ccgttatcaa gtgttggctt gctagaaaaa
     1141 gaatgcctca tgaagtcact cactcaatgg aagaaattaa gctctgccca actctaaatg
     1201 aaatttttct tgagtcacca actgcaataa atagcatcac agacatttat gaaacagaag
     1261 aggaggggtg gaagagtgac acttcattat atgaaaatga cacagatgag cccagggaag
     1321 aggaagtgga agatctgatc tcctggacca atactctcaa tacaaatact tcagaagatt
     1381 aagcagaaca ttatcagatt caaaaaataa acagcctccg ccatagccca gcgttgtgga
     1441 gcaattttgg aagactctca gaacttggat ttcatttttt ttaagttgtt ctcacccact
     1501 cactgcaagt acaaattaga aatataagta caaatcagta aa
//
