LOCUS       NM_003344               5162 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens ubiquitin conjugating enzyme E2 H (UBE2H), transcript
            variant 1, mRNA.
ACCESSION   NM_003344
VERSION     NM_003344.4
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 5162)
  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   2  (bases 1 to 5162)
  AUTHORS   Lim,K.H. and Joo,J.Y.
  TITLE     Predictive Potential of Circulating Ube2h mRNA as an E2
            Ubiquitin-Conjugating Enzyme for Diagnosis or Treatment of
            Alzheimer's Disease
  JOURNAL   Int J Mol Sci 21 (9), 3398 (2020)
   PUBMED   32403399
  REMARK    GeneRIF: Predictive Potential of Circulating Ube2h mRNA as an E2
            Ubiquitin-Conjugating Enzyme for Diagnosis or Treatment of
            Alzheimer's Disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5162)
  AUTHORS   Corominas,R., Yang,X., Lin,G.N., Kang,S., Shen,Y., Ghamsari,L.,
            Broly,M., Rodriguez,M., Tam,S., Wanamaker,S.A., Fan,C., Yi,S.,
            Tasan,M., Lemmens,I., Kuang,X., Zhao,N., Malhotra,D.,
            Michaelson,J.J., Vacic,V., Calderwood,M.A., Roth,F.P.,
            Tavernier,J., Horvath,S., Salehi-Ashtiani,K., Korkin,D., Sebat,J.,
            Hill,D.E., Hao,T., Vidal,M. and Iakoucheva,L.M.
  TITLE     Protein interaction network of alternatively spliced isoforms from
            brain links genetic risk factors for autism
  JOURNAL   Nat Commun 5, 3650 (2014)
   PUBMED   24722188
  REMARK    Erratum:[Nat Commun. 2023 Feb 2;14(1):569. doi:
            10.1038/s41467-023-36264-y.. PMID: 36732511]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5162)
  AUTHORS   Doyle,J.M., Gao,J., Wang,J., Yang,M. and Potts,P.R.
  TITLE     MAGE-RING protein complexes comprise a family of E3 ubiquitin
            ligases
  JOURNAL   Mol Cell 39 (6), 963-974 (2010)
   PUBMED   20864041
REFERENCE   5  (bases 1 to 5162)
  AUTHORS   David,Y., Ziv,T., Admon,A. and Navon,A.
  TITLE     The E2 ubiquitin-conjugating enzymes direct polyubiquitination to
            preferred lysines
  JOURNAL   J Biol Chem 285 (12), 8595-8604 (2010)
   PUBMED   20061386
REFERENCE   6  (bases 1 to 5162)
  AUTHORS   Vourc'h,P., Martin,I., Bonnet-Brilhault,F., Marouillat,S.,
            Barthelemy,C., Pierre Muh,J. and Andres,C.
  TITLE     Mutation screening and association study of the UBE2H gene on
            chromosome 7q32 in autistic disorder
  JOURNAL   Psychiatr Genet 13 (4), 221-225 (2003)
   PUBMED   14639049
  REMARK    GeneRIF: UBE2H gene could be one of the 7q-susceptibility loci for
            autistic disorder.
REFERENCE   7  (bases 1 to 5162)
  AUTHORS   Hayashida,S., Yamasaki,K., Asada,Y., Soeda,E., Niikawa,N. and
            Kishino,T.
  TITLE     Construction of a physical and transcript map flanking the
            imprinted MEST/PEG1 region at 7q32
  JOURNAL   Genomics 66 (2), 221-225 (2000)
   PUBMED   10860668
REFERENCE   8  (bases 1 to 5162)
  AUTHORS   Kaiser,P., Mandl,S., Schweiger,M. and Schneider,R.
  TITLE     Characterization of functionally independent domains in the human
            ubiquitin conjugating enzyme UbcH2
  JOURNAL   FEBS Lett 377 (2), 193-196 (1995)
   PUBMED   8543049
REFERENCE   9  (bases 1 to 5162)
  AUTHORS   Wefes,I., Mastrandrea,L.D., Haldeman,M., Koury,S.T., Tamburlin,J.,
            Pickart,C.M. and Finley,D.
  TITLE     Induction of ubiquitin-conjugating enzymes during terminal
            erythroid differentiation
  JOURNAL   Proc Natl Acad Sci U S A 92 (11), 4982-4986 (1995)
   PUBMED   7761435
REFERENCE   10 (bases 1 to 5162)
  AUTHORS   Kaiser,P., Seufert,W., Hofferer,L., Kofler,B., Sachsenmaier,C.,
            Herzog,H., Jentsch,S., Schweiger,M. and Schneider,R.
  TITLE     A human ubiquitin-conjugating enzyme homologous to yeast UBC8
  JOURNAL   J Biol Chem 269 (12), 8797-8802 (1994)
   PUBMED   8132613
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073320.8, AB451490.1,
            AC084865.3 and AK026094.1.
            
            On May 17, 2019 this sequence version replaced NM_003344.3.
            
            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, or E1s,
            ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein
            ligases, or E3s. This gene encodes a member of the E2
            ubiquitin-conjugating enzyme family. The encoded protein sequence
            is 100% identical to the mouse homolog and 98% identical to the
            frog and zebrafish homologs. Three alternatively spliced transcript
            variants have been found for this gene and they encode distinct
            isoforms. [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803612.234534.1,
                                           SRR1660803.11792.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355621.8/ ENSP00000347836.3
            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
            1-405               AC073320.8         159518-159922
            406-954             AB451490.1         1-549
            955-3453            AC084865.3         45193-47691         c
            3454-5162           AK026094.1         141-1849
FEATURES             Location/Qualifiers
     source          1..5162
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.2"
     gene            1..5162
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /note="ubiquitin conjugating enzyme E2 H"
                     /db_xref="GeneID:7328"
                     /db_xref="HGNC:HGNC:12484"
                     /db_xref="MIM:601082"
     exon            1..458
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             406..957
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /EC_number="2.3.2.23"
                     /EC_number="2.3.2.24"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ubiquitin-conjugating enzyme E2H (homologous to yeast
                     UBC8); ubiquitin-conjugating enzyme E2H (UBC8 homolog,
                     yeast); ubiquitin-protein ligase H; ubiquitin carrier
                     protein H; ubiquitin-conjugating enzyme E2-20K; GID
                     complex subunit 3, UBC8 homolog; E2 ubiquitin-conjugating
                     enzyme H; (E3-independent) E2 ubiquitin-conjugating enzyme
                     H; ubiquitin conjugating enzyme E2H"
                     /codon_start=1
                     /product="ubiquitin-conjugating enzyme E2 H isoform 1"
                     /protein_id="NP_003335.1"
                     /db_xref="CCDS:CCDS5814.1"
                     /db_xref="GeneID:7328"
                     /db_xref="HGNC:HGNC:12484"
                     /db_xref="MIM:601082"
                     /translation="MSSPSPGKRRMDTDVVKLIESKHEVTILGGLNEFVVKFYGPQGT
                     PYEGGVWKVRVDLPDKYPFKSPSIGFMNKIFHPNIDEASGTVCLDVINQTWTALYDLT
                     NIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEG
                     TGDSSSESSMSDFSEDEAQDMEL"
     exon            459..535
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /inference="alignment:Splign:2.1.0"
     exon            536..610
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /inference="alignment:Splign:2.1.0"
     exon            611..650
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /inference="alignment:Splign:2.1.0"
     exon            651..703
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /inference="alignment:Splign:2.1.0"
     exon            704..832
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /inference="alignment:Splign:2.1.0"
     exon            833..5162
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3079..3084
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /note="hexamer: AATAAA"
     polyA_site      3108
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
     regulatory      5137..5142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /note="hexamer: AATAAA"
     polyA_site      5162
                     /gene="UBE2H"
                     /gene_synonym="E2-20K; GID3; UBC8; UBCH; UBCH2"
                     /note="major polyA site"
ORIGIN      
        1 agagcgaggc tggggtaggg aggccgactg agcaggagtc gtccgcttat agtggaggct
       61 gctaggagcc ggtcagaggg tgagtgggga gcaggcgagc gagccacagc aggcaggagg
      121 gagcgtcgcg cggcgcagag gagcgccggg gcagggccgc ggcggaacca cagccggaga
      181 ggggcagccc gagccgggcg ccgcagggtc cccaccccca cccggccgga cagtgcccgg
      241 tgttcccccg tgcggggggc ggcggcggcg gctgacggga ccgccgggac cgcgggggtg
      301 ttgccacctc caccgaggag ccggcgcggc cgcgggctcc tcagagccgg ggccccgggc
      361 ccgtgacaga cgggccgagg aagggagaga ggcggcggcg acaccatgtc atctcccagt
      421 ccgggcaaga ggcggatgga cacggacgtg gtcaagctca tcgagagtaa acatgaggtt
      481 acgatcctgg gaggacttaa tgaatttgta gtgaagtttt atggaccaca aggaacacca
      541 tatgaaggcg gagtatggaa agttagagtg gacctacctg ataaataccc tttcaaatct
      601 ccatctatag gattcatgaa taaaattttc catcccaaca ttgatgaagc gtcaggaact
      661 gtgtgtctag atgtaattaa tcaaacttgg acagctctct atgatcttac caatatattt
      721 gagtccttcc tgcctcagtt attggcctat cctaacccca tagatcctct caatggtgac
      781 gctgcagcca tgtacctcca ccgaccagaa gaatacaagc agaaaattaa agagtacatc
      841 cagaaatacg ccacggagga ggcgctgaaa gaacaggaag agggtaccgg ggacagctca
      901 tcggagagct ctatgtctga cttttccgaa gatgaggccc aggatatgga gttgtagtag
      961 aaaaagcacc tgcttttcag aaagactatt atttcctaac catgagaagc agactataat
     1021 attcatattt aaacaaagca atttttttta ttactaaaca aggtttttat gaataatagc
     1081 attgatatat atatattata tatcaccctt tagatcttga tttcttggtc atttctcaac
     1141 ctgaggtgca tagcatattc ccacattcca tttggtagca atatgcggtc tgaatgcatg
     1201 cattcatgag tccatgtggc caagtcagcc tgtgtgctac tgaactgtcg aaggaaatag
     1261 ccgctctgat aggtagatgt gagtaaaaag aacaggaaaa aattgcttct tttattggtt
     1321 tccaaagaaa caaaccaaac caaccagctc ttggatgtga agataaaata gtgctttttt
     1381 gaaatggaga ggaaaaactt ggggaggaag aggcctgctg tgggggcatc ggagccagcc
     1441 atgtaagaat cagagctgct ccttcctgtg aatcctaggt ggccctatgt cttctgtgga
     1501 gttacagtat aaagcaggga gctaattaag agtattaaaa cttaaaacca ttttttgact
     1561 ctgattttaa gtacattttt atatgtcagt tgctgccctt cacactacca ggccctgcag
     1621 ccacagtgtt ctgttggaga aacttgggga agtgttttct gaaccagttc tttttcttgg
     1681 ggtagagcgt gaaatccaga cctgtttttg aaaggacagc acaggaggag aaaagtgact
     1741 gggacgatgc ttcctctcat ccaaaacaca tgcagagtca catcctcatc ctagtgtttg
     1801 gcagtttgag accgctaccc tgaacttaag agctttaaat atgagggttg tgtttctggg
     1861 ggggttattt ttttggtgtg tgtgtgtgtg tattgtgctt agaaaggttg cagatttcat
     1921 cttcacctac caagaggcgg ccgcctcctt ggacaagccg ctcatggacc attagacttg
     1981 agaagacgac ccacgtggtg actgcaaagc cctgggtact tgccttcatg ttctggtttg
     2041 gttttccctt tttctgctgc tcttggcagc agcctggtca tcatctgctt gtgggagtgg
     2101 gaaatgggta ttttagaccc aacacaggtt ctaaatttaa aacaaataat aattggaaca
     2161 aataaaggtt cttgtaccca gagtgattct acatgggaaa aacaaaccag cttttttcag
     2221 agagtgaccg aataggaaga agggattcag aaatatgatg tagtagaaca tgccctgcag
     2281 gaagaaaatg ttttctctcc tgcgtatgtt aagaggaaat cagtttaaaa tgcctgctaa
     2341 tcaaatgtcg actcagctaa ccatatgtcc aggttgctgc agagtttctt tcaaatctga
     2401 gtgttgcctg ctgaactcgg aggggagttt ggagaaattt tagacagcag ctctgtgttc
     2461 tttttttgcc gcagccaata agataatagc agaattagcc aatcctaaaa ccttctaaag
     2521 acgatttttg agcatcccac tgggattatt taatttttct ttttgacgtg tgtttttagt
     2581 ttagaagtgc tgtattccac aaggtttaag tcagtgaggt tggaagatac cctatctttt
     2641 ttattcaaaa agcacaatca atcttttgtt tgaaaatcta tataaagtac aacttgcttt
     2701 tagcatgatt attttcctaa ataaaaagac aaagaattta cttactttat gttaattacg
     2761 ggcatgaagc aaaaggtttt ctttaaaaaa aaaaaaaagt gcagtgatgt agggctgtgg
     2821 ttagttaacc gtactgagtt atccatctag catctgtggc ttgctggaag ggtagtatta
     2881 actatttaac atgtaatggt gtacttcact cttacctagc acgctgtctt ctcattgctt
     2941 tgggggaggg agggtctctc tgctggcact gtctaacttg cttacctgct gactttgcag
     3001 tttgcttgtg ctatgacatt tattgtaggt gctatttagg gtaggcttaa agtgctgggt
     3061 ggtgatttga gttcaaacaa taaaaaattg tattttttca atattgtata aacaatagtg
     3121 ttctaattac cttaaaaaaa aataatgacc agttaagaat tgcttttgat cttgtcaaaa
     3181 aactgaatag accccagttt cgggaaggtg tgtgagcagt gccatgactc tgccccttac
     3241 ctaatcccac atctctctaa tgataagaca ttggctcgcc tctgaccaga gccccagcac
     3301 cagagagcgg aagatgcaga attgtcaaat gacctgctgg gggaggttgt aggagtttag
     3361 cagatttgag tgtggctgca gagagagaga gtgtgtgtat gtgtgcacat gtgtgagagt
     3421 gtgagcgaga gtgtgtgtgt gtccatctaa gtgtgtgtga tgaaggtggg ataaggctcc
     3481 tctgttagtg ctggaagctc ctgtaattgc cgcatggatc ccactgtgcc ctcttgttct
     3541 gtgcaagtct gtcctgtctg ggcactaacc ttggtcccat gcatgtttat gttctgggtg
     3601 gggctttgcc tctccactgg gaaactgact tttgctgggt tgaacagagt cccttatgct
     3661 ttttgtcctc tccctgcgcc tgggagaggt gggagtagga gcccaaacac acaggtacag
     3721 aaagatctgg aagaaggcct ggcagtgaat ccaaggactc tgggccccca acaatagatg
     3781 gtagcgtaag tctggagcag cggtgtttca ccaccaaatg cctttccagg ctgcccttcc
     3841 aacactcagg agagcatcca gatccctggg cagaggctct acattcttgg ctttagaggt
     3901 ggtggcagcg gcagcaggtc agagccactt ctggcggttt ccctcccctt tttagtgccc
     3961 atagtttttg gatcctccct tgagttttac cagcacaagc cattctttgc ccctgttcac
     4021 ataactgagc tcaagctctt gccaaacacc aacaagcaag atggttgcaa cctggcaaca
     4081 ttgaatccac cacccttggg ctccctctgg aagccccagc accggggggc ttttgggcac
     4141 agggtcagtg gtagccatct tagacactga catttggctt tgtcgtcaat ttcatcaccc
     4201 tccttgaggt tactgtgcag tttcaaccag cattttatcc tagtgaggtc attatcagga
     4261 gttgccatat catctctcca gtacctaaca tttctcatcc acttcaaaag ctgttctgac
     4321 tgccagctgg ctgatctaag ctcctgagga atgtctcctc tcaaaggaat ttttccctcc
     4381 aaaggccccc tgaagtccta gttggcattg gcctggcaca tgctttatgt taggcctccc
     4441 gttgggatgg ctgagaatca tgaaagacag atcctccgct agcctctgtg ggtcaagttt
     4501 ctggacacca agtctctggg aactagtgtt tgattttaaa tggcatgtgg cccttccttg
     4561 tttcagtgac ttagaaaagt aaaagccatt taaaaaagtt agcaagattt tttatcgact
     4621 tcccaactgg gcttccagcc ttgttgaatg aaatcatcta tctctgattg ggcgcaacga
     4681 actgcatttc tttggacttc tgaatccatg tttgtgcttt ctctggcccg tgaacacctc
     4741 ggcgattctg ttagggatgg gatgagtggg aggaagccct ttgagaaggg ggagccggcc
     4801 ctgtcatgcg caggttttcc actcatctga ggaagagcca gggctctgaa tttagcctaa
     4861 cactcatctt ggctgtgggc ttgggaagaa atggccatta tttacagatt gtatttggta
     4921 catattgtgt gatacttgaa aagataaaag ggactgccag cccctaactg aaatctgaag
     4981 ctttttatcg cttatttttc ctcgccctgt ctcctccctt ccacctttct ccttgcattg
     5041 tgatgatcta gtaggcacgt ctgtcaacag gacacatgcc tcctctgact ataacctctt
     5101 aatagttgtg tataatgaaa actgtaaact tttttaaata aacgtgtata taccttggca
     5161 aa
//
