LOCUS       NM_015704               3780 bp    mRNA    linear   PRI 12-MAY-2024
DEFINITION  Homo sapiens desumoylating isopeptidase 1 (DESI1), mRNA.
ACCESSION   NM_015704 XM_039495
VERSION     NM_015704.3
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 3780)
  AUTHORS   Luebben,A.V., Bender,D., Becker,S., Crowther,L.M., Erven,I.,
            Hofmann,K., Soding,J., Klemp,H., Bellotti,C., Stauble,A., Qiu,T.,
            Kathayat,R.S., Dickinson,B.C., Gartner,J., Sheldrick,G.M.,
            Kratzner,R. and Steinfeld,R.
  TITLE     Cln5 represents a new type of cysteine-based S-depalmitoylase
            linked to neurodegeneration
  JOURNAL   Sci Adv 8 (15), eabj8633 (2022)
   PUBMED   35427157
REFERENCE   2  (bases 1 to 3780)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3780)
  AUTHORS   Hirayama,S., Sugihara,M., Morito,D., Iemura,S.I., Natsume,T.,
            Murata,S. and Nagata,K.
  TITLE     Nuclear export of ubiquitinated proteins via the UBIN-POST system
  JOURNAL   Proc Natl Acad Sci U S A 115 (18), E4199-E4208 (2018)
   PUBMED   29666234
REFERENCE   4  (bases 1 to 3780)
  AUTHORS   Shin,E.J., Shin,H.M., Nam,E., Kim,W.S., Kim,J.H., Oh,B.H. and
            Yun,Y.
  TITLE     DeSUMOylating isopeptidase: a second class of SUMO protease
  JOURNAL   EMBO Rep 13 (4), 339-346 (2012)
   PUBMED   22370726
REFERENCE   5  (bases 1 to 3780)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (bases 1 to 3780)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3780)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX403547.2, BC093956.1, BX478162.1, AL023553.5 and BC039554.2.
            
            On Nov 23, 2018 this sequence version replaced NM_015704.2.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.279770.1,
                                           SRR1803613.94732.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161836, SAMEA2162328
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263256.7/ ENSP00000263256.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-129               BX403547.2         54-182
            130-752             BC093956.1         1-623
            753-1242            BX478162.1         113-602
            1243-2552           AL023553.5         102125-103434       c
            2553-3780           BC039554.2         415-1642
FEATURES             Location/Qualifiers
     source          1..3780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..3780
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /note="desumoylating isopeptidase 1"
                     /db_xref="GeneID:27351"
                     /db_xref="HGNC:HGNC:24577"
                     /db_xref="MIM:614637"
     exon            1..292
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             205..711
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /EC_number="3.1.2.22"
                     /note="family with sequence similarity 152, member B;
                     PPPDE peptidase domain-containing protein 2; PPPDE
                     peptidase domain containing 2; desumoylating isopeptidase
                     2; polyubiquitinated substrate transporter;
                     S-depalmitoylase DESI1; palmitoyl protein thioesterase
                     DESI1"
                     /codon_start=1
                     /product="desumoylating isopeptidase 1"
                     /protein_id="NP_056519.1"
                     /db_xref="CCDS:CCDS33652.1"
                     /db_xref="GeneID:27351"
                     /db_xref="HGNC:HGNC:24577"
                     /db_xref="MIM:614637"
                     /translation="MEPPNLYPVKLYVYDLSKGLARRLSPIMLGKQLEGIWHTSIVVH
                     KDEFFFGSGGISSCPPGGTLLGPPDSVVDVGSTEVTEEIFLEYLSSLGESLFRGEAYN
                     LFEHNCNTFSNEVAQFLTGRKIPSYITDLPSEVLSTPFGQALRPLLDSIQIQPPGGSS
                     VGRPNGQS"
     exon            293..314
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /inference="alignment:Splign:2.1.0"
     exon            315..384
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /inference="alignment:Splign:2.1.0"
     exon            385..494
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /inference="alignment:Splign:2.1.0"
     exon            495..617
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /inference="alignment:Splign:2.1.0"
     exon            618..3780
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      915..920
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /note="hexamer: ATTATA"
     polyA_site      933
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
     regulatory      3756..3761
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /note="hexamer: AATAAA"
     polyA_site      3780
                     /gene="DESI1"
                     /gene_synonym="D15Wsu75e; DeSI-1; DESI2; DJ347H13.4;
                     FAM152B; POST; PPPDE2"
                     /note="major polyA site"
ORIGIN      
        1 ctctctgtca cctcacagta gtcgttgccg gtagcgggtg tgggggcgcg agcagcgcag
       61 ggcggcctct cccccacccc tcagcccggg cccgggctcg gtccccccct ctccctccgc
      121 ttcgcactcc cgtcgggtac gggaaggtcc aagccgctgc cgggtgcccg agggccgtcg
      181 tggccgccgt cgccacgggt cccaatggag ccgccgaatc tctatccggt gaagctctac
      241 gtgtacgacc tgtccaaagg cctggcccgg cggctcagcc ccatcatgct ggggaaacaa
      301 ctggaaggca tctggcacac atccatagtt gtgcacaagg atgagttctt cttcggcagt
      361 ggtggtatct ccagctgccc cccgggaggg acattgcttg ggcctccaga ctctgtggtt
      421 gatgtgggga gtacagaagt cacagaagaa atctttctgg agtacctctc ctccctgggg
      481 gagtccctgt tccgaggtga ggcctacaac ctctttgaac acaattgtaa caccttcagc
      541 aacgaagtgg cacagttcct gactgggcgg aagattcctt cttacatcac agacctgccc
      601 tctgaagttc tctccacgcc ctttggacag gcacttcggc ccctcctgga ctccattcag
      661 atccagcctc caggagggag ctccgtgggc agacccaacg gccagagcta acaggactgc
      721 ctgggaccgc cctgcctcac cagggctttt cctttttaaa caaaacaaac cctaccagat
      781 ttctatttta taattttaca tcagagctaa caaccagggg acggcttttt aaatttccca
      841 gggaaggaga ccgtcaggcc gcatgtagac aatgctgcta agaaacagaa caaaatgcca
      901 ccccttctaa tagtattata ctaatttatt aaggctgtct tgtctgtgcg ttcacttcgg
      961 atgctgtttc ctaagcgtcc tccacactgg agaaagggag gggctttgtt taaacagaaa
     1021 gcgagtcaca gtttgcggga gccccaacct agaactcttt ccagagaaca ctcacgctct
     1081 acccaagttg ccaacacctg tgggacccag gtgagtttta gaacatccgt gacccagaaa
     1141 gttactctag tgttaaatga accaaaggat ttggtgtaca tgggaccggt ttcaggatga
     1201 ctaacctaac ctaagtgaac tctttagcca caaccctcac cttccctccc ttaccccaag
     1261 caaggccagt gctggagcag ccattgcctc cggatcaagg gagtaacagc aagtatcagg
     1321 ccggagaaaa caggataaag ccattcctcc ttccacctag atggattgcc aatcttctgc
     1381 catcaatttt gggaaacctg cctttgtgcc cccgaggctg cctttcctca gcatagctga
     1441 cttgtcatag tggatgaggt ctgggctgga gcagtagaag ccaaggcctt ttttctgcaa
     1501 gtaatgatgt aggttatttg cagtctctgt aaccaccatc caggccagta cgcagtattt
     1561 agctggggac caagggatgg gattccctac tctaagaaaa tacctttatt ttaattatta
     1621 ttattttttg agacggagtc tcgctctacc acccaggctg gtgtgcagtg gcatgatctc
     1681 ggctcacaga aacctctgcc tcccgggttc aagtggttct cctgcctcag cctcctgagt
     1741 agctgggatt acaggtgcgt gccaccacgc caggctaatt tttgtatttt cagtagagac
     1801 agggttttgc catgttggcc aggctggtct ggaactcctg acctcgggtg atccacctcc
     1861 cttggcctcc caaagtgctg ggattacagg cgtgagccac cgctgcctgg ccagaaaata
     1921 cctttgatat ggaaagaata atgatgtgag gcctggcgcg gtggctcacg cctgtaatcc
     1981 cagcactttg ggaggccgag gcaggcagat cacttgaggt caggacttca agaccagcct
     2041 ggccaacatg gtgaaacccc gtctctacta aaaatacaaa attagccggg catggtggcg
     2101 catgcctgta gtcccagcta ctcgggaggc tgaggcagga gaatcgcttg aacccgggag
     2161 gcagagattg cgatgagccg agatcgtacc agtgcactcc agcctgggcg acagagtgag
     2221 actccatctc aaaaaaataa aataatgaag tggaatcaag gtggcaagaa aatttagaat
     2281 cgtttctgat agggactttc ccttatccta aatgtgtttt gaaggcacac gttatttcca
     2341 ttgtcattct gactttagaa aggcaggttg gggcatgagt gggcattttc ctaatgactt
     2401 gctgctagga ggttataggc agggaacagt ctgggagtct ctaatccaga gagactttca
     2461 gattccctct cttcacatga acctccatta gttagatttt gggaaagtga gcatgaagaa
     2521 gggactcaga gctgccaggt acccgagtct caggtctgac atccttgggc cccttctgcc
     2581 acaacttctt gccacttcac ggacttgaat tatgttgctt cttcctggaa gtctggcctg
     2641 cagcacaggc ctttcctctc caaaaagctg ctgctcattt ctggccccat ctgctgctat
     2701 ctttgccatc agccatcaca gtttggcatc atcagagtct cagctagagg agctgtcatt
     2761 ctgccttagt gtttgcctgc gacctgacca ggggcatgac cagctgggat gtcaagtgac
     2821 atttgggaac ttgtagaggc caaatgattg aaagtttaat tcttctcaag acccactgat
     2881 ttgccagtgt gcatggaaat aatagattag agcagaaact agcagggact gttgtataat
     2941 cgtgatctac tagcagaatt gggcccaaag agaaagaatt tctgaggctg ggtttcttct
     3001 gggagggtag caggttggtc ttggccagtg ctctgtttcc caccagtgtt gttccctttt
     3061 ccagcttgcc tggcccggct ctgtcttcca gggtcctgct ccagacccct ctgcctgggg
     3121 tctcccctcc atccaggggg ttctgggcat cacagctcct ttttttcctt tctcctcttc
     3181 cagatccagt ttcagctggt ttgcttcttc cagcaggcac ccttaggccc aggagcagct
     3241 cccctgagag aatttgagtc actcatttcc ttgaacagca ccccccttta tactagcagc
     3301 catttgtgcc attgcctgtg ccctagggtt tgtggggaga gagcgaggga tcactgagca
     3361 gttttcccag agctccatgg gaaggcaagc tctccctccc aatgggagcc ccactgtcac
     3421 taactgtaaa ctcaggctca ggcttcaact gcctaccccc atcctcatat ttctgtctgt
     3481 cccagcacct caggagcatt ctcattgtgg ccggctaact ccgcctggat gtgaacaggc
     3541 aagcacagtg ggaaatgagt cacgtacttg tattgcacag tggacacctc tagaggtcca
     3601 ttggtttaaa gggataggga aggaggaggg atgagaccat caccccctcc cagaagtaaa
     3661 tctagtatct gagttttctt tatgcccttg agtcaaacta ataactgtct agtacggagg
     3721 tgtttgctgg ttttcttcgg tgttttttct aatgcaataa actcatttct gcctgctgca
//
