LOCUS       NM_024818               4692 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens ubiquitin like modifier activating enzyme 5 (UBA5),
            transcript variant 1, mRNA.
ACCESSION   NM_024818
VERSION     NM_024818.6
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 4692)
  AUTHORS   Lee,C.Y., Hubrich,D., Varga,J.K., Schafer,C., Welzel,M.,
            Schumbera,E., Djokic,M., Strom,J.M., Schonfeld,J., Geist,J.L.,
            Polat,F., Gibson,T.J., Keller Valsecchi,C.I., Kumar,M.,
            Schueler-Furman,O. and Luck,K.
  TITLE     Systematic discovery of protein interaction interfaces using
            AlphaFold and experimental validation
  JOURNAL   Mol Syst Biol 20 (2), 75-97 (2024)
   PUBMED   38225382
REFERENCE   2  (bases 1 to 4692)
  AUTHORS   Pan,X., Alvarez,A.N., Ma,M., Lu,S., Crawford,M.W., Briere,L.C.,
            Kanca,O., Yamamoto,S., Sweetser,D.A., Wilson,J.L., Napier,R.J.,
            Pruneda,J.N. and Bellen,H.J.
  TITLE     Allelic strengths of encephalopathy-associated UBA5 variants
            correlate between in vivo and in vitro assays
  JOURNAL   Elife 12, 89891 (2023)
   PUBMED   38079206
  REMARK    GeneRIF: Allelic strengths of encephalopathy-associated UBA5
            variants correlate between in vivo and in vitro assays.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4692)
  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   4  (bases 1 to 4692)
  AUTHORS   Fuchs,S., Kikhney,A.G., Schubert,R., Kaiser,C., Liebau,E.,
            Svergun,D.I., Betzel,C. and Perbandt,M.
  TITLE     Structure and dynamics of UBA5-UFM1 complex formation showing new
            insights in the UBA5 activation mechanism
  JOURNAL   J Struct Biol 213 (4), 107796 (2021)
   PUBMED   34508858
  REMARK    GeneRIF: Structure and dynamics of UBA5-UFM1 complex formation
            showing new insights in the UBA5 activation mechanism.
REFERENCE   5  (bases 1 to 4692)
  AUTHORS   Kumar,M., Padala,P., Fahoum,J., Hassouna,F., Tsaban,T.,
            Zoltsman,G., Banerjee,S., Cohen-Kfir,E., Dessau,M., Rosenzweig,R.,
            Isupov,M.N., Schueler-Furman,O. and Wiener,R.
  TITLE     Structural basis for UFM1 transfer from UBA5 to UFC1
  JOURNAL   Nat Commun 12 (1), 5708 (2021)
   PUBMED   34588452
  REMARK    GeneRIF: Structural basis for UFM1 transfer from UBA5 to UFC1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4692)
  AUTHORS   Behrends,C., Sowa,M.E., Gygi,S.P. and Harper,J.W.
  TITLE     Network organization of the human autophagy system
  JOURNAL   Nature 466 (7302), 68-76 (2010)
   PUBMED   20562859
REFERENCE   7  (bases 1 to 4692)
  AUTHORS   Bacik,J.P., Walker,J.R., Ali,M., Schimmer,A.D. and Dhe-Paganon,S.
  TITLE     Crystal structure of the human ubiquitin-activating enzyme 5 (UBA5)
            bound to ATP: mechanistic insights into a minimalistic E1 enzyme
  JOURNAL   J Biol Chem 285 (26), 20273-20280 (2010)
   PUBMED   20368332
  REMARK    GeneRIF: Studies reveal structural features of UBA5 that further
            understanding of the enzyme reaction mechanism and provide insight
            into the evolution of ubiquitin activation.
REFERENCE   8  (bases 1 to 4692)
  AUTHORS   Zheng,M., Gu,X., Zheng,D., Yang,Z., Li,F., Zhao,J., Xie,Y., Ji,C.
            and Mao,Y.
  TITLE     UBE1DC1, an ubiquitin-activating enzyme, activates two different
            ubiquitin-like proteins
  JOURNAL   J Cell Biochem 104 (6), 2324-2334 (2008)
   PUBMED   18442052
  REMARK    GeneRIF: UBE1DC1 greatly activated SUMO2 in the nucleus or
            transferred activated-SUMO2 to nucleus after it conjugated SUMO2 in
            the cytoplasm.
REFERENCE   9  (bases 1 to 4692)
  AUTHORS   Dou,T., Gu,S., Liu,J., Chen,F., Zeng,L., Guo,L., Xie,Y. and Mao,Y.
  TITLE     Isolation and characterization of ubiquitin-activating enzyme
            E1-domain containing 1, UBE1DC1
  JOURNAL   Mol Biol Rep 32 (4), 265-271 (2005)
   PUBMED   16328888
REFERENCE   10 (bases 1 to 4692)
  AUTHORS   Komatsu,M., Chiba,T., Tatsumi,K., Iemura,S., Tanida,I., Okazaki,N.,
            Ueno,T., Kominami,E., Natsume,T. and Tanaka,K.
  TITLE     A novel protein-conjugating system for Ufm1, a ubiquitin-fold
            modifier
  JOURNAL   EMBO J 23 (9), 1977-1986 (2004)
   PUBMED   15071506
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK056238.1, AY253672.1,
            AI681654.1, AC020632.16 and AC055732.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 12, 2020 this sequence version replaced NM_024818.5.
            
            Summary: This gene encodes a member of the E1-like
            ubiquitin-activating enzyme family. This protein activates
            ubiquitin-fold modifier 1, a ubiquitin-like post-translational
            modifier protein, via the formation of a high-energy thioester
            bond. Alternative splicing results in multiple transcript variants.
            A pseudogene of this gene has been identified on chromosome 1.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and 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 :: AY253672.1, SRR11853567.21655.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356232.10/ ENSP00000348565.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AK056238.1         834-850
            18-2668             AY253672.1         2-2652
            2669-3005           AI681654.1         6-342               c
            3006-4156           AC020632.16        1-1151              c
            4157-4692           AC055732.16        173698-174233       c
FEATURES             Location/Qualifiers
     source          1..4692
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..4692
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /note="ubiquitin like modifier activating enzyme 5"
                     /db_xref="GeneID:79876"
                     /db_xref="HGNC:HGNC:23230"
                     /db_xref="MIM:610552"
     exon            1..370
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             210..1424
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ubiquitin-activating enzyme E1-domain containing 1; UBA5,
                     ubiquitin-activating enzyme E1 homolog; UFM1-activating
                     enzyme; ubiquitin-activating enzyme 5;
                     ubiquitin-activating enzyme E1 domain-containing protein
                     1"
                     /codon_start=1
                     /product="ubiquitin-like modifier-activating enzyme 5
                     isoform 1"
                     /protein_id="NP_079094.1"
                     /db_xref="CCDS:CCDS3076.1"
                     /db_xref="GeneID:79876"
                     /db_xref="HGNC:HGNC:23230"
                     /db_xref="MIM:610552"
                     /translation="MAESVERLQQRVQELERELAQERSLQVPRSGDGGGGRVRIEKMS
                     SEVVDSNPYSRLMALKRMGIVSDYEKIRTFAVAIVGVGGVGSVTAEMLTRCGIGKLLL
                     FDYDKVELANMNRLFFQPHQAGLSKVQAAEHTLRNINPDVLFEVHNYNITTVENFQHF
                     MDRISNGGLEEGKPVDLVLSCVDNFEARMTINTACNELGQTWMESGVSENAVSGHIQL
                     IIPGESACFACAPPLVVAANIDEKTLKREGVCAASLPTTMGVVAGILVQNVLKFLLNF
                     GTVSFYLGYNAMQDFFPTMSMKPNPQCDDRNCRKQQEEYKKKVAALPKQEVIQEEEEI
                     IHEDNEWGIELVSEVSEEELKNFSGPVPDLPEGITVAYTIPKKQEDSVTELTVEDSGE
                     SLEDLMAKMKNM"
     exon            371..416
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            417..506
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            507..616
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            617..703
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            704..788
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            789..893
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1021
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1157
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1233
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1340
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..4692
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2059..2064
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /note="hexamer: AATAAA"
     polyA_site      2087
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /note="major polyA site"
     regulatory      4394..4399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /note="hexamer: AATAAA"
     polyA_site      4415
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /note="major polyA site"
     regulatory      4654..4659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /note="hexamer: AATAAT"
     polyA_site      4692
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /note="major polyA site"
ORIGIN      
        1 gcaccggaag cggctccgag gaaggcctgt gggagtctcg gagacgtgtc tgtctgtgag
       61 gcgctgggtg cacgtcccca gggctctggg ctaggaaggc agcggcgagg tgcctcccca
      121 cgtacccctc gcgggcccag ccgagcaacg tggggcgaag gcggcggcga aggcccgggc
      181 tgggagcgtt ggcggccgga gtcccagcca tggcggagtc tgtggagcgc ctgcagcagc
      241 gggtccagga gctggagcgg gaacttgccc aggagaggag tctgcaggtc ccgaggagcg
      301 gcgacggagg gggcggccgg gtccgcatcg agaagatgag ctcagaggtg gtggattcga
      361 atccctacag ccgcttgatg gcattgaaac gaatgggaat tgtaagcgac tatgagaaaa
      421 tccgtacctt tgccgtagca atagtaggtg ttggtggagt aggtagtgtg actgctgaaa
      481 tgctgacaag atgtggcatt ggtaagttgc tactctttga ttatgacaag gtggaactag
      541 ccaatatgaa tagacttttc ttccaacctc atcaagcagg attaagtaaa gttcaagcag
      601 cagaacatac tctgaggaac attaatcctg atgttctttt tgaagtacac aactataata
      661 taaccacagt ggaaaacttt caacatttca tggatagaat aagtaatggt gggttagaag
      721 aaggaaaacc tgttgatcta gttcttagct gtgtggacaa ttttgaagct cgaatgacaa
      781 taaatacagc ttgtaatgaa cttggacaaa catggatgga atctggggtc agtgaaaatg
      841 cagtttcagg gcatatacag cttataattc ctggagaatc tgcttgtttt gcgtgtgctc
      901 caccacttgt agttgctgca aatattgatg aaaagactct gaaacgagaa ggtgtttgtg
      961 cagccagtct tcctaccact atgggtgtgg ttgctgggat cttagtacaa aacgtgttaa
     1021 agtttctgtt aaattttggt actgttagtt tttaccttgg atacaatgca atgcaggatt
     1081 tttttcctac tatgtccatg aagccaaatc ctcagtgtga tgacagaaat tgcaggaagc
     1141 agcaggagga atataagaaa aaggtagcag cactgcctaa acaagaggtt atacaagaag
     1201 aggaagagat aatccatgaa gataatgaat ggggtattga gctggtatct gaggtttcag
     1261 aagaggaact gaaaaatttt tcaggtccag ttccagactt acctgaagga attacagtgg
     1321 catacacaat tccaaaaaag caagaagatt ctgtcactga gttaacagtg gaagattctg
     1381 gtgaaagctt ggaagacctc atggccaaaa tgaagaatat gtagataatg gactgggata
     1441 tattgtattt ctcatgttaa agcctcttcc cttgaaatta aaaaaaaatt ttaactgata
     1501 aaacttaggg caacattaat taatgtatat tcttacctga attgttatac tttttgaaaa
     1561 tcctgtgact tgcctgtttc tccccgctcc aacgaaatca ttaactctcc taaaatgtgt
     1621 ttcattctag taagaaaacc tcaaaggata ttgtaggata taaatcttac ttgaaaacat
     1681 agctgttgaa atgttttggc cttttggagt gggggaagga caaatctgat cctgtaatct
     1741 ttttctttcc agtaatccct tgtgtctgtt gcatgaggac atggacaata aagtagtata
     1801 tgatcctcag atacagggag aaggacaagg catacagctt attgattaga gctggcaagc
     1861 atctgctcat tatgtttgga attgctttct ataagaaaat tgcccactac tactaacttg
     1921 atcaacaatg aattcaaaat agttaaccta tgaaataaca tcctctcaaa tgtttgctga
     1981 tgaagtacaa gttgaaatgt agttattgga aaagtctgta acctgtggat catatatatt
     2041 caaagtgaga caaaggcaaa taaaaagcag ctattttcat gaatagacaa agttgatttc
     2101 aggaagtata aattatattc tgcaccgaac aaggaacaga aattattgca tctgtggaac
     2161 atatatctgg agttactata ctttactgaa gagcaaggca taaatttaga ctaaaatcca
     2221 tccagattac actcattctt taggctactc ctggatactt catttaaatt tgattttcga
     2281 ggtagtgaga tgtcggcaag gtttgtcctg tatattagga ataaaggaaa agttctaaac
     2341 tgcctctgca atgacttgta gtcagtggaa gagtatcact ttcccctgat catgaccact
     2401 aaactgtaaa ttgatataaa ttagttttct ctcgagttac acccaagtaa tgaagactta
     2461 agagaacctt ggttgaaata aatttccaat agtttggaga ctcataaata ccatgcaggt
     2521 gtaaccactg ccaataggct gtttctatgc ttatttccta ttttgatttt tactttgaag
     2581 ataggaatat ctaaattata tctctaggga gaaaatgttg taaaaaatta aaagtacatc
     2641 cctgattgta aaataaagtt caaaaaactg atttcagaaa gtctcaacta ccaaatgttt
     2701 tcaatatatt agttttgaga tgctaggatt atactgtgat tcttatgttt atagtaaagt
     2761 ctggaaagca gaaggatagt ttttttagcc tggaaactta tttatgttgc cttggtgagt
     2821 cttctatcat tttttaaaaa tttagcttat tgaactgtaa aatagctttt ctagtatgag
     2881 agatgttttg aatttaaaaa atgaaatgca gtttttcaaa aataaatttc ctttggaaat
     2941 tcttgcatat caatttagta aggttttata aaattttaca atttgataaa gtatcacatc
     3001 tagaattcac tgtcttcttt tatctgctct caagttggca ttgcatcact gcctgtgtct
     3061 tacactgcac caaatgttac ctaattgacc taactttttt tgtctaatat ctttcattaa
     3121 aaacaattgg attatttaac cagaaaaaaa atctggtaat agagatgttg ctatcctaga
     3181 atactctctt gacagtctgt atgccatgaa aacttgcata agaaggcagc tgattacgaa
     3241 aaattaatca tcattgaatt tagtattact aaactcatag catttgtcca gatttgtaaa
     3301 cactattgat tctaatgtga aagatggaaa agcagtccca gaattggctt agcacagaga
     3361 ctctaaatga tagtaaaaca acatattcaa ctttaattcc tgtcttattg ttaatgggaa
     3421 gttagttatg gttctactta aatgttgtag agaaaataag tattactagt ttcttctcat
     3481 aaaaatactc cctggatacg tacactgaac aacacaaaaa acgtaatggc cacttaagaa
     3541 tatttattta tttatttatt tttttgagac agagtctcac tctgttgccc aggctggagt
     3601 gcagtggcac gatctcagct caccacatcc tccgcctccc aggttcaagc gattctcctg
     3661 cctcagcctc ccaagtagct gggattacag gtgcccgcca ccacgcatgg ctaatttttg
     3721 tatttttagt agaggcgagg tttcaccatg ttggccaggc tggtcttgaa ctcctgacct
     3781 caggtgatcc acccatcttg gcctcccaaa gtgctgggat tataggtgtg agccaccacg
     3841 cccagccaag aatatttact aaaggaagct ttgacccctg catcacattt ttttcatatt
     3901 tccctttctg taatctcagc actttgggag gctgaggtgg gtaggtcaag aggtcaggag
     3961 ttcgagacca gcctgaccaa catggcaaaa ccccgtctct actaaaaata caaaaattag
     4021 ccgggcgtgg tggtgcgtga ctgtaatccc agctacttag gaggctgagg caggagaatc
     4081 gcttgaacct gggaggcaga ggttgcagtg agctgagata gtgccactgc actccagtct
     4141 ggaaaacaga gtgagactct gtctcaaaaa aaaaggtatt gatgaataaa aattataact
     4201 agaataagta ctctaacaat tcagatttat aattgagttg tctgaaagct acctttttca
     4261 ttgtgaaagt gcatattaat gtgaagaaaa tattcctatt tgagaacttc aaatatgcat
     4321 acacaaagat gttccagcta tttttatctt cttaagtatg cattctacat gagaacgttt
     4381 gggttggtag taaaataaat agtaatatca aaatagttta ttatgtttaa atttcattct
     4441 tttggaatac ataattttga gtgatcatgt ctccaactac agttattcag gcacaaattt
     4501 tggaggtaca aagaataaat aatattctta aggtagtttt tccttttatc agggttcttc
     4561 tagagtactg gtctcattat tttctaaagc agtttttcta aggtgataaa ccgaacacat
     4621 tacttgctat gtattaaatg acttgtacca ctaaataatc aaattctaag ctctaacagc
     4681 ttaattctaa aa
//
