LOCUS       NM_003336               1776 bp    mRNA    linear   PRI 03-MAY-2024
DEFINITION  Homo sapiens ubiquitin conjugating enzyme E2 A (UBE2A), transcript
            variant 1, mRNA.
ACCESSION   NM_003336
VERSION     NM_003336.4
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 1776)
  AUTHORS   Haakonsen,D.L., Heider,M., Ingersoll,A.J., Vodehnal,K., Witus,S.R.,
            Uenaka,T., Wernig,M. and Rape,M.
  TITLE     Stress response silencing by an E3 ligase mutated in
            neurodegeneration
  JOURNAL   Nature 626 (8000), 874-880 (2024)
   PUBMED   38297121
REFERENCE   2  (bases 1 to 1776)
  AUTHORS   Barnsby-Greer,L., Mabbitt,P.D., Dery,M.A., Squair,D.R., Wood,N.T.,
            Lamoliatte,F., Lange,S.M. and Virdee,S.
  TITLE     UBE2A and UBE2B are recruited by an atypical E3 ligase module in
            UBR4
  JOURNAL   Nat Struct Mol Biol 31 (2), 351-363 (2024)
   PUBMED   38182926
REFERENCE   3  (bases 1 to 1776)
  AUTHORS   Shukla,P.K., Sinha,D., Leng,A.M., Bissell,J.E., Thatipamula,S.,
            Ganguly,R., Radmall,K.S., Skalicky,J.J., Shrieve,D.C. and
            Chandrasekharan,M.B.
  TITLE     Mutations of Rad6 E2 ubiquitin-conjugating enzymes at alanine-126
            in helix-3 affect ubiquitination activity and decrease enzyme
            stability
  JOURNAL   J Biol Chem 298 (11), 102524 (2022)
   PUBMED   36162503
  REMARK    GeneRIF: Mutations of Rad6 E2 ubiquitin-conjugating enzymes at
            alanine-126 in helix-3 affect ubiquitination activity and decrease
            enzyme stability.
REFERENCE   4  (bases 1 to 1776)
  AUTHORS   Simoes,V., Cizubu,B.K., Harley,L., Zhou,Y., Pajak,J., Snyder,N.A.,
            Bouvette,J., Borgnia,M.J., Arya,G., Bartesaghi,A. and Silva,G.M.
  TITLE     Redox-sensitive E2 Rad6 controls cellular response to oxidative
            stress via K63-linked ubiquitination of ribosomes
  JOURNAL   Cell Rep 39 (8), 110860 (2022)
   PUBMED   35613580
  REMARK    GeneRIF: Redox-sensitive E2 Rad6 controls cellular response to
            oxidative stress via K63-linked ubiquitination of ribosomes.
REFERENCE   5  (bases 1 to 1776)
  AUTHORS   Wolanska,E., Pollak,A., Rydzanicz,M., Pesz,K., Klaniewska,M.,
            Rozensztrauch,A., Skiba,P., Stawinski,P., Ploski,R. and Smigiel,R.
  TITLE     The Role of the Reanalysis of Genetic Test Results in the Diagnosis
            of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including
            the UBE2A and CXorf56 Genes
  JOURNAL   Genes (Basel) 12 (3), 350 (2021)
   PUBMED   33673493
  REMARK    GeneRIF: The Role of the Reanalysis of Genetic Test Results in the
            Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion
            including the UBE2A and CXorf56 Genes.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1776)
  AUTHORS   Miura,T., Klaus,W., Ross,A., Guntert,P. and Senn,H.
  TITLE     The NMR structure of the class I human ubiquitin-conjugating enzyme
            2b
  JOURNAL   J Biomol NMR 22 (1), 89-92 (2002)
   PUBMED   11885984
  REMARK    GeneRIF: high resolution backbone structure from nmr
REFERENCE   7  (bases 1 to 1776)
  AUTHORS   Xin,H., Lin,W., Sumanasekera,W., Zhang,Y., Wu,X. and Wang,Z.
  TITLE     The human RAD18 gene product interacts with HHR6A and HHR6B
  JOURNAL   Nucleic Acids Res 28 (14), 2847-2854 (2000)
   PUBMED   10908344
REFERENCE   8  (bases 1 to 1776)
  AUTHORS   Tateishi,S., Sakuraba,Y., Masuyama,S., Inoue,H. and Yamaizumi,M.
  TITLE     Dysfunction of human Rad18 results in defective postreplication
            repair and hypersensitivity to multiple mutagens
  JOURNAL   Proc Natl Acad Sci U S A 97 (14), 7927-7932 (2000)
   PUBMED   10884424
REFERENCE   9  (bases 1 to 1776)
  AUTHORS   Koken,M.H., Smit,E.M., Jaspers-Dekker,I., Oostra,B.A.,
            Hagemeijer,A., Bootsma,D. and Hoeijmakers,J.H.
  TITLE     Localization of two human homologs, HHR6A and HHR6B, of the yeast
            DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31
  JOURNAL   Genomics 12 (3), 447-453 (1992)
   PUBMED   1559696
REFERENCE   10 (bases 1 to 1776)
  AUTHORS   Koken,M.H., Reynolds,P., Jaspers-Dekker,I., Prakash,L., Prakash,S.,
            Bootsma,D. and Hoeijmakers,J.H.
  TITLE     Structural and functional conservation of two human homologs of the
            yeast DNA repair gene RAD6
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 8865-8869 (1991)
   PUBMED   1717990
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA599154.1, M74524.1 and
            AI784380.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003336.3.
            
            Summary: The modification of proteins with ubiquitin is an
            important cellular mechanism for targeting abnormal or short-lived
            proteins for degradation. Ubiquitination involves at least three
            classes of enzymes: ubiquitin-activating enzymes,
            ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This
            gene encodes a member of the E2 ubiquitin-conjugating enzyme
            family. This enzyme is required for post-replicative DNA damage
            repair, and may play a role in transcriptional regulation.
            Mutations in this gene are associated with cognitive disability.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR3476690.408589.1,
                                           SRR3476690.170339.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371558.7/ ENSP00000360613.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-295               DA599154.1         97-391
            296-1771            M74524.1           267-1742
            1772-1776           AI784380.1         7-11                c
FEATURES             Location/Qualifiers
     source          1..1776
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..1776
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /note="ubiquitin conjugating enzyme E2 A"
                     /db_xref="GeneID:7319"
                     /db_xref="HGNC:HGNC:12472"
                     /db_xref="MIM:312180"
     exon            1..193
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..608
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /EC_number="2.3.2.23"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ubiquitin-protein ligase A; ubiquitin carrier protein A;
                     RAD6 homolog A; E2 ubiquitin-conjugating enzyme A;
                     ubiquitin-conjugating enzyme E2A"
                     /codon_start=1
                     /product="ubiquitin-conjugating enzyme E2 A isoform 1"
                     /protein_id="NP_003327.2"
                     /db_xref="CCDS:CCDS14580.1"
                     /db_xref="GeneID:7319"
                     /db_xref="HGNC:HGNC:12472"
                     /db_xref="MIM:312180"
                     /translation="MSTPARRRLMRDFKRLQEDPPAGVSGAPSENNIMVWNAVIFGPE
                     GTPFEDGTFKLTIEFTEEYPNKPPTVRFVSKMFHPNVYADGSICLDILQNRWSPTYDV
                     SSILTSIQSLLDEPNPNSPANSQAAQLYQENKREYEKRVSAIVEQSWRDC"
     exon            194..274
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            275..300
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            301..390
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            391..479
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            480..1776
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      698..703
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /note="hexamer: ATTAAA"
     polyA_site      718
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /note="major polyA site"
     regulatory      1753..1758
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
                     /note="hexamer: AATAAA"
     polyA_site      1776
                     /gene="UBE2A"
                     /gene_synonym="HHR6A; MRXS30; MRXSN; RAD6A; UBC2"
ORIGIN      
        1 agaccgaccc tcgacttcgg agaggcagcg cggttcctct gggtgcttcc gcctcccctt
       61 ctcctgcttc tccagcctct tcggcctcct cgcccgccgc gggaacccga gaccccagtg
      121 tatgccccac ccctgacccc gctcgcgaca tgtccacccc ggctcggcgg cgcctcatgc
      181 gggacttcaa gaggttgcag gaggatcctc cagccggagt cagcggggct ccgtccgaga
      241 acaacataat ggtgtggaac gcggtcattt tcgggcctga agggaccccg tttgaggatg
      301 gaacatttaa acttacaata gaattcactg aagaatatcc aaataaacca cctacagtta
      361 gatttgtctc taagatgttc catccaaatg tctatgcaga tggtagtata tgtctggaca
      421 tacttcagaa ccgttggagt ccaacctatg atgtgtcttc cattctaaca tccatacagt
      481 ctctgttgga tgaacccaat cccaatagtc cagcaaacag ccaggctgct cagctgtacc
      541 aggagaacaa acgggaatat gaaaagcgtg tttctgcaat agtagaacaa agctggcgtg
      601 attgttgacc ccgggtacag tttaaagaag ctggccataa gaaaaatata tattgatgtg
      661 tttgtcacct ccctactcct gtcattacat ttactttatt aaaagcaaaa taactgttgt
      721 gctgtttcca tcttccttgc caagttttcc taccccttct accctctcct taaacatcag
      781 aaaacaccct ctatgaaatc aaatgtactg tacctgggtt acttgcaaaa attactaatg
      841 cttcagtttt tctgttgtat ttcatttcca gttttcaggc agttattttt attattgtac
      901 tttaagcttt taagatgaat tgttatacaa gaggtgctta tgcttagctt gatgaccagg
      961 atgttatttt taacaaaatg attgctgaag tgtttcatcc tggctggtcc ttcacttgtg
     1021 ttggatttag aagtgaatgt gtttggaata tggcctacag agaatagaaa caaatccatg
     1081 taaacaattt tgaaggaggc atgggagcta aaaatcctgt gatactaaga tctcagtcat
     1141 atgaattaca acgtagtatt tactggcaag aaggagaaag ttgaaggact cagctaaagg
     1201 agtacagcaa ttgtagtaac tgacacatcc tctctttgca agctgctgac tgggcacact
     1261 catgccaagt ttcagaatta ttggtcttct gggtttttgc tttttaaaag aggtgtggga
     1321 gcagaggaat ggaaacaatc gtgagttttt gagctaggga aagttggagc tcctttaatc
     1381 tttttaaagg atcagtgctg ccctaagtga ataaactcaa ttgtccatct ttattttaga
     1441 gttttaatga attcaaggaa gggagcatag catatctgtg gcaaactatt ttccactcaa
     1501 atcctgagtt attgctgcat gctttaattt cttccctttc agcatctgag aaccttaaag
     1561 ccaatgtctg cgatcttttt ttggatattt atacttttag atatatagta cctttaagta
     1621 gcagtatggg acaaggcttg taaatgtttt gtctaatgtt ctattgtcac cttttatgca
     1681 tttatcactt ccaaatctaa ctttgcacaa gtaacccatg taaaaaaaaa tgtacatttt
     1741 tcaaaagttg taaataaaaa taaccttaaa atttca
//
