LOCUS       NM_203494               1353 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.
ACCESSION   NM_203494
VERSION     NM_203494.5
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 1353)
  AUTHORS   Mackay,H.L., Stone,H.R., Ronson,G.E., Ellis,K., Lanz,A., Aghabi,Y.,
            Walker,A.K., Starowicz,K., Garvin,A.J., Van Eijk,P., Koestler,S.A.,
            Anthony,E.J., Piberger,A.L., Chauhan,A.S., Conway-Thomas,P.,
            Vaitsiankova,A., Vijayendran,S., Beesley,J.F., Petermann,E.,
            Brown,E.J., Densham,R.M., Reed,S.H., Dobbs,F., Saponaro,M. and
            Morris,J.R.
  TITLE     USP50 suppresses alternative RecQ helicase use and deleterious DNA2
            activity during replication
  JOURNAL   Nat Commun 15 (1), 8102 (2024)
   PUBMED   39284827
  REMARK    GeneRIF: USP50 suppresses alternative RecQ helicase use and
            deleterious DNA2 activity during replication.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1353)
  AUTHORS   Zhao,C., Mu,M., Li,X., Dong,Z., Wang,J., Yao,C., Zheng,J., Sun,X.
            and Yu,J.
  TITLE     USP50 regulates NLRP3 inflammasome activation in duodenogastric
            reflux-induced gastric tumorigenesis
  JOURNAL   Front Immunol 15, 1326137 (2024)
   PUBMED   38469295
  REMARK    GeneRIF: USP50 regulates NLRP3 inflammasome activation in
            duodenogastric reflux-induced gastric tumorigenesis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1353)
  AUTHORS   Zuo,Y., Zheng,Z., Huang,Y., He,J., Zang,L., Ren,T., Cao,X.,
            Miao,Y., Yuan,Y., Liu,Y., Ma,F., Dai,J., Tian,S., Ding,Q. and
            Zheng,H.
  TITLE     Vitamin C promotes ACE2 degradation and protects against SARS-CoV-2
            infection
  JOURNAL   EMBO Rep 24 (4), e56374 (2023)
   PUBMED   36876523
REFERENCE   4  (bases 1 to 1353)
  AUTHORS   Cai,J., Wei,J., Schrott,V., Zhao,J., Bullock,G. and Zhao,Y.
  TITLE     Induction of deubiquitinating enzyme USP50 during erythropoiesis
            and its potential role in the regulation of Ku70 stability
  JOURNAL   J Investig Med 66 (1), 1-6 (2018)
   PUBMED   29101126
  REMARK    GeneRIF: verexpression of USP50 has no effect on Ku70 mRNA levels,
            while it reduces Ku70 protein levels by promoting Ku70 degradation,
            suggesting that USP50 may indirectly regulate Ku70 protein
            stability.
REFERENCE   5  (bases 1 to 1353)
  AUTHORS   Lee,J.Y., Seo,D., You,J., Chung,S., Park,J.S., Lee,J.H., Jung,S.M.,
            Lee,Y.S. and Park,S.H.
  TITLE     The deubiquitinating enzyme, ubiquitin-specific peptidase 50,
            regulates inflammasome activation by targeting the ASC adaptor
            protein
  JOURNAL   FEBS Lett 591 (3), 479-490 (2017)
   PUBMED   28094437
  REMARK    GeneRIF: the deubiquitinating enzyme USP50 binds to the ASC protein
            and subsequently regulates the inflammasome signaling pathway.
REFERENCE   6  (bases 1 to 1353)
  AUTHORS   Arking,D.E., Pulit,S.L., Crotti,L., van der Harst,P., Munroe,P.B.,
            Koopmann,T.T., Sotoodehnia,N., Rossin,E.J., Morley,M., Wang,X.,
            Johnson,A.D., Lundby,A., Gudbjartsson,D.F., Noseworthy,P.A.,
            Eijgelsheim,M., Bradford,Y., Tarasov,K.V., Dorr,M.,
            Muller-Nurasyid,M., Lahtinen,A.M., Nolte,I.M., Smith,A.V.,
            Bis,J.C., Isaacs,A., Newhouse,S.J., Evans,D.S., Post,W.S.,
            Waggott,D., Lyytikainen,L.P., Hicks,A.A., Eisele,L., Ellinghaus,D.,
            Hayward,C., Navarro,P., Ulivi,S., Tanaka,T., Tester,D.J.,
            Chatel,S., Gustafsson,S., Kumari,M., Morris,R.W., Naluai,A.T.,
            Padmanabhan,S., Kluttig,A., Strohmer,B., Panayiotou,A.G.,
            Torres,M., Knoflach,M., Hubacek,J.A., Slowikowski,K.,
            Raychaudhuri,S., Kumar,R.D., Harris,T.B., Launer,L.J.,
            Shuldiner,A.R., Alonso,A., Bader,J.S., Ehret,G., Huang,H.,
            Kao,W.H., Strait,J.B., Macfarlane,P.W., Brown,M., Caulfield,M.J.,
            Samani,N.J., Kronenberg,F., Willeit,J., Smith,J.G., Greiser,K.H.,
            Meyer Zu Schwabedissen,H., Werdan,K., Carella,M., Zelante,L.,
            Heckbert,S.R., Psaty,B.M., Rotter,J.I., Kolcic,I., Polasek,O.,
            Wright,A.F., Griffin,M., Daly,M.J., Arnar,D.O., Holm,H.,
            Thorsteinsdottir,U., Denny,J.C., Roden,D.M., Zuvich,R.L.,
            Emilsson,V., Plump,A.S., Larson,M.G., O'Donnell,C.J., Yin,X.,
            Bobbo,M., D'Adamo,A.P., Iorio,A., Sinagra,G., Carracedo,A.,
            Cummings,S.R., Nalls,M.A., Jula,A., Kontula,K.K., Marjamaa,A.,
            Oikarinen,L., Perola,M., Porthan,K., Erbel,R., Hoffmann,P.,
            Jockel,K.H., Kalsch,H., Nothen,M.M., den Hoed,M., Loos,R.J.,
            Thelle,D.S., Gieger,C., Meitinger,T., Perz,S., Peters,A.,
            Prucha,H., Sinner,M.F., Waldenberger,M., de Boer,R.A., Franke,L.,
            van der Vleuten,P.A., Beckmann,B.M., Martens,E., Bardai,A.,
            Hofman,N., Wilde,A.A., Behr,E.R., Dalageorgou,C., Giudicessi,J.R.,
            Medeiros-Domingo,A., Barc,J., Kyndt,F., Probst,V., Ghidoni,A.,
            Insolia,R., Hamilton,R.M., Scherer,S.W., Brandimarto,J.,
            Margulies,K., Moravec,C.E., del Greco,M. F, Fuchsberger,C.,
            O'Connell,J.R., Lee,W.K., Watt,G.C., Campbell,H., Wild,S.H., El
            Mokhtari,N.E., Frey,N., Asselbergs,F.W., Mateo Leach,I., Navis,G.,
            van den Berg,M.P., van Veldhuisen,D.J., Kellis,M., Krijthe,B.P.,
            Franco,O.H., Hofman,A., Kors,J.A., Uitterlinden,A.G.,
            Witteman,J.C., Kedenko,L., Lamina,C., Oostra,B.A., Abecasis,G.R.,
            Lakatta,E.G., Mulas,A., Orru,M., Schlessinger,D., Uda,M.,
            Markus,M.R., Volker,U., Snieder,H., Spector,T.D., Arnlov,J.,
            Lind,L., Sundstrom,J., Syvanen,A.C., Kivimaki,M., Kahonen,M.,
            Mononen,N., Raitakari,O.T., Viikari,J.S., Adamkova,V., Kiechl,S.,
            Brion,M., Nicolaides,A.N., Paulweber,B., Haerting,J.,
            Dominiczak,A.F., Nyberg,F., Whincup,P.H., Hingorani,A.D.,
            Schott,J.J., Bezzina,C.R., Ingelsson,E., Ferrucci,L., Gasparini,P.,
            Wilson,J.F., Rudan,I., Franke,A., Muhleisen,T.W., Pramstaller,P.P.,
            Lehtimaki,T.J., Paterson,A.D., Parsa,A., Liu,Y., van Duijn,C.M.,
            Siscovick,D.S., Gudnason,V., Jamshidi,Y., Salomaa,V., Felix,S.B.,
            Sanna,S., Ritchie,M.D., Stricker,B.H., Stefansson,K., Boyer,L.A.,
            Cappola,T.P., Olsen,J.V., Lage,K., Schwartz,P.J., Kaab,S.,
            Chakravarti,A., Ackerman,M.J., Pfeufer,A., de Bakker,P.I. and
            Newton-Cheh,C.
  CONSRTM   CARe Consortium; COGENT Consortium; DCCT/EDIC; eMERGE Consortium;
            HRGEN Consortium
  TITLE     Genetic association study of QT interval highlights role for
            calcium signaling pathways in myocardial repolarization
  JOURNAL   Nat Genet 46 (8), 826-836 (2014)
   PUBMED   24952745
REFERENCE   7  (bases 1 to 1353)
  AUTHORS   Aressy,B., Jullien,D., Cazales,M., Marcellin,M., Bugler,B.,
            Burlet-Schiltz,O. and Ducommun,B.
  TITLE     A screen for deubiquitinating enzymes involved in the G/M
            checkpoint identifies USP50 as a regulator of HSP90-dependent Wee1
            stability
  JOURNAL   Cell Cycle 9 (18), 3815-3822 (2010)
   PUBMED   20930503
  REMARK    GeneRIF: USP50 may act through a HSP90-dependent mechanism to
            counteract CDC25B mitotic inducing activity and prevent Wee1
            degradation.
REFERENCE   8  (bases 1 to 1353)
  AUTHORS   Puente,X.S. and Lopez-Otin,C.
  TITLE     A genomic analysis of rat proteases and protease inhibitors
  JOURNAL   Genome Res 14 (4), 609-622 (2004)
   PUBMED   15060002
REFERENCE   9  (bases 1 to 1353)
  AUTHORS   Quesada,V., Diaz-Perales,A., Gutierrez-Fernandez,A., Garabaya,C.,
            Cal,S. and Lopez-Otin,C.
  TITLE     Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
            proteases
  JOURNAL   Biochem Biophys Res Commun 314 (1), 54-62 (2004)
   PUBMED   14715245
REFERENCE   10 (bases 1 to 1353)
  AUTHORS   Puente,X.S., Sanchez,L.M., Overall,C.M. and Lopez-Otin,C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012170.6.
            
            On May 17, 2019 this sequence version replaced NM_203494.4.
            
            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##
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2148093
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000532404.6/ ENSP00000434676.1
            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
            1-194               AC012170.6         193376-193569       c
            195-389             AC012170.6         191490-191684       c
            390-585             AC012170.6         190501-190696       c
            586-801             AC012170.6         187952-188167       c
            802-944             AC012170.6         185612-185754       c
            945-1077            AC012170.6         176700-176832       c
            1078-1353           AC012170.6         147465-147740       c
FEATURES             Location/Qualifiers
     source          1..1353
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     gene            1..1353
                     /gene="USP50"
                     /note="ubiquitin specific peptidase 50"
                     /db_xref="GeneID:373509"
                     /db_xref="HGNC:HGNC:20079"
                     /db_xref="MIM:620563"
     exon            1..194
                     /gene="USP50"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..1146
                     /gene="USP50"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 50; inactive ubiquitin
                     carboxyl-terminal hydrolase 50; inactive
                     ubiquitin-specific peptidase 50"
                     /codon_start=1
                     /product="ubiquitin carboxyl-terminal hydrolase 50"
                     /protein_id="NP_987090.2"
                     /db_xref="CCDS:CCDS53944.1"
                     /db_xref="GeneID:373509"
                     /db_xref="HGNC:HGNC:20079"
                     /db_xref="MIM:620563"
                     /translation="MTSQPSLPADDFDIYHVLAECTDYYDTLPVKEADGNQPHFQGVT
                     GLWNLGNTCCVNAISQCLCSILPLVEYFLTGKYITALQNDCSEVATAFAYLMTDMWLG
                     DSDCVSPEIFWSALGNLYPAFTKKMQQDAQEFLICVLNELHEALKKYHYSRRRSYEKG
                     STQRCCRKWITTETSIITQLFEEQLNYSIVCLKCEKCTYKNEVFTVFSLPIPSKYECS
                     LRDCLQCFFQQDALTWNNEIHCSFCETKQETAVRASISKAPKIIIFHLKRFDIQGTTK
                     RKLRTDIHYPLTNLDLTPYICSIFRKYPKYNLCAVVNHFGDLDGGHYTAFCKNSVTQA
                     "
     exon            195..389
                     /gene="USP50"
                     /inference="alignment:Splign:2.1.0"
     exon            390..585
                     /gene="USP50"
                     /inference="alignment:Splign:2.1.0"
     exon            586..801
                     /gene="USP50"
                     /inference="alignment:Splign:2.1.0"
     exon            802..944
                     /gene="USP50"
                     /inference="alignment:Splign:2.1.0"
     exon            945..1077
                     /gene="USP50"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1353
                     /gene="USP50"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agttcgcagc tactggaaga gagaggagca tatcaattgt ttaaaacaaa aagccagcgt
       61 taacaggctc agagaaatga agttgaaagg aatagatgta gctcctgaat agaagcaaaa
      121 gtccaacgtg gttccattaa aatgacttct cagccgtctc tccctgcaga tgacttcgat
      181 atctaccacg tccttgcaga gtgcacagat tactatgata cccttccagt taaggaggct
      241 gatgggaacc agccccattt tcagggtgtc actggcttgt ggaacttggg caacacatgc
      301 tgcgtgaatg ccatctcaca gtgtctctgc agcatcttgc cgctggtgga atactttctc
      361 accgggaagt atatcaccgc tctgcaaaac gattgcagtg aagttgccac tgcttttgcc
      421 tatctgatga cagacatgtg gctgggagac tcagactgtg tctcaccaga aatattctgg
      481 tcagctcttg gcaacctcta cccagcattt acgaaaaaga tgcaacaaga tgctcaggaa
      541 ttcttgattt gtgtcctaaa tgaacttcat gaagctctaa aaaagtacca ctactcccgg
      601 agaagatcat atgagaaagg atctactcag agatgctgca ggaagtggat taccactgag
      661 acatccatca tcacccagct gtttgaagag cagctcaatt atagcatcgt atgtttaaag
      721 tgtgagaaat gcacctacaa gaacgaagtc ttcactgtct tctcactccc cattccatcc
      781 aaatatgaat gctcccttcg ggactgtctc caatgttttt ttcaacaaga cgcactgacc
      841 tggaacaacg aaattcactg ctccttttgt gaaaccaagc aagaaactgc tgtgagggcc
      901 agtatttcca aagcaccaaa aataattatt ttccacctaa aaaggtttga cattcagggt
      961 acaacaaaaa ggaagctgag aacggatatt cattacccac tcactaactt ggacctcact
     1021 ccttatattt gctcaatttt ccggaaatat cctaaataca acctctgtgc agtggtgaac
     1081 cattttggtg atttggatgg tggccactac actgctttct gcaagaattc agtcacccag
     1141 gcctgatata gctttgataa cacacgagtc agtgagattc cagatacttc tgttcaaaat
     1201 gctatggatc tcctgttcta tagctgccag cccttttcca taccaataca aaagcgttaa
     1261 gagccaggaa aatggtgttt cctgaacact gcaaaacaag cagtcagcat ctggtggtag
     1321 agttttgctt ggtcattaaa ctcttagaac tta
//
