LOCUS       NM_001346026            5724 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens ubiquitin specific peptidase 45 (USP45), transcript
            variant 7, mRNA.
ACCESSION   NM_001346026 XM_005267172
VERSION     NM_001346026.3
KEYWORDS    RefSeq.
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 5724)
  AUTHORS   Liu,L., Chen,C., Liu,P., Li,J., Pang,Z., Zhu,J., Lin,Z., Zhou,H.,
            Xie,Y., Lan,T., Chen,Z.S., Zeng,Z. and Fang,W.
  TITLE     MYH10 Combines with MYH9 to Recruit USP45 by Deubiquitinating Snail
            and Promotes Serous Ovarian Cancer Carcinogenesis, Progression, and
            Cisplatin Resistance
  JOURNAL   Adv Sci (Weinh) 10 (14), e2203423 (2023)
   PUBMED   36929633
  REMARK    GeneRIF: MYH10 Combines with MYH9 to Recruit USP45 by
            Deubiquitinating Snail and Promotes Serous Ovarian Cancer
            Carcinogenesis, Progression, and Cisplatin Resistance.
REFERENCE   2  (bases 1 to 5724)
  AUTHORS   Yi,Z., Ouyang,J., Sun,W., Xiao,X., Li,S., Jia,X., Wang,P. and
            Zhang,Q.
  TITLE     Biallelic mutations in USP45, encoding a deubiquitinating enzyme,
            are associated with Leber congenital amaurosis
  JOURNAL   J Med Genet 56 (5), 325-331 (2019)
   PUBMED   30573563
  REMARK    GeneRIF: Our study implicates that biallelic mutations in USP45 are
            associated with the occurrence of LCA. Moreover, our results
            indicate that USP45 is indispensable to the maintenance of
            photoreceptor function.
REFERENCE   3  (bases 1 to 5724)
  AUTHORS   Conte,C., Griffis,E.R., Hickson,I. and Perez-Oliva,A.B.
  TITLE     USP45 and Spindly are part of the same complex implicated in cell
            migration
  JOURNAL   Sci Rep 8 (1), 14375 (2018)
   PUBMED   30258100
  REMARK    GeneRIF: Using mass spectrometry this study identified CCDC99 as a
            new target of USP45. The data showed that CCDC99 and USP45 are part
            of the same complex and that their interaction specifically depends
            on the catalytic activity of USP45.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5724)
  AUTHORS   Perez-Oliva,A.B., Lachaud,C., Szyniarowski,P., Munoz,I.,
            Macartney,T., Hickson,I., Rouse,J. and Alessi,D.R.
  TITLE     USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA
            damage responses
  JOURNAL   EMBO J 34 (3), 326-343 (2015)
   PUBMED   25538220
  REMARK    GeneRIF: these results establish USP45 as a new regulator of
            XPF-ERCC1 crucial for efficient DNA repair
REFERENCE   5  (bases 1 to 5724)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137784.14 and AL513550.9.
            
            On Aug 13, 2020 this sequence version replaced NM_001346026.2.
            
            Summary: The protein encoded by this gene is a deubiquitylase that
            binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair
            endonuclease. This endonuclease is a critical regulator of DNA
            repair processes, and the deubiquitylase activity of the encoded
            protein is important for maintaining the DNA repair ability of
            XPF-ERCC1. [provided by RefSeq, Sep 2016].
            
            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##
            Transcript exon combination :: SRR14038196.860679.1,
                                           SRR14038195.1003261.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                AL137784.14        32909-32940         c
            33-142              AL137784.14        27638-27747         c
            143-315             AL137784.14        26127-26299         c
            316-419             AL137784.14        24945-25048         c
            420-520             AL137784.14        21282-21382         c
            521-660             AL137784.14        6198-6337           c
            661-756             AL137784.14        5717-5812           c
            757-887             AL137784.14        270-400             c
            888-975             AL513550.9         121465-121552       c
            976-1057            AL513550.9         113859-113940       c
            1058-1149           AL513550.9         111994-112085       c
            1150-1206           AL513550.9         110402-110458       c
            1207-1350           AL513550.9         109926-110069       c
            1351-2017           AL513550.9         91119-91785         c
            2018-2115           AL513550.9         88887-88984         c
            2116-2202           AL513550.9         85091-85177         c
            2203-5724           AL513550.9         77647-81168         c
FEATURES             Location/Qualifiers
     source          1..5724
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.2"
     gene            1..5724
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /note="ubiquitin specific peptidase 45"
                     /db_xref="GeneID:85015"
                     /db_xref="HGNC:HGNC:20080"
                     /db_xref="MIM:618439"
     exon            1..32
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            33..142
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..2208
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /EC_number="3.4.19.12"
                     /note="isoform e is encoded by transcript variant 7;
                     ubiquitin specific protease 45; ubiquitin
                     carboxyl-terminal hydrolase 45; ubiquitin thioesterase 45;
                     deubiquitinating enzyme 45; ubiquitin-specific-processing
                     protease 45; ubiquitin thiolesterase 45"
                     /codon_start=1
                     /product="ubiquitin carboxyl-terminal hydrolase 45 isoform
                     e"
                     /protein_id="NP_001332955.1"
                     /db_xref="GeneID:85015"
                     /db_xref="HGNC:HGNC:20080"
                     /db_xref="MIM:618439"
                     /translation="MRVKDPTKALPEKAKRSKRPTVPHDEDSSDDIAVGLTCQHVSHA
                     ISVNHVKRAIAENLWSVCSECLKERRFYDGQLVLTSDIWLCLKCGFQGCGKNSESQHS
                     LKHFKSSRTEPHCIIINLSTWIIWCYECDEKLSTHCNKKVLAQIVDFLQKHASKTQTS
                     AFSRIMKLCEEKCETDEIQKGGKCRNLSVRGITNLGNTCFFNAVMQNLAQTYTLTDLM
                     NEIKESSTKLKIFPSSDSQLDPLVVELSRPGPLTSALFLFLHSMKETEKGPLSPKVLF
                     NQLCQKAPRFKDFQQQDSQELLHYLLDAVRTEETKRIQASILKAFNNPTTKTADDETR
                     KKVKAYGKEGVKMNFIDRIFIGELTSTVMCEECANISTVKDPFIDISLPIIEERVSKP
                     LLWGRMNKYRSLRETDHDRYSGNVTIENIHQPRAAKKHSSSKDKSQLIHDRKCIRKLS
                     SGETVTYQKNENLEMNGDSLMFASLMNSESRLNESPTDDSEKEASHSESNVDADSEPS
                     ESESASKQTGLFRSSSGSGVQPDGPLYPLSAGKLLYTKETDSGDKEMAEAISELRLSS
                     TVTGDQDFDRENQPLNISNNLCFLEGKHLRSYSPQNAFQTLSQSYITTSKECSIQSCL
                     YQFTSMELLMGNNKLLCENCTKNKQKYQEETSFAEKKVEGVYTNARKQLLISAVPAVL
                     ILHLKRFHQAGLSLRKVNRHVDFPLMLDLAPFCSATCKV"
     exon            143..315
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            316..419
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            420..520
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            521..660
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            661..756
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            757..887
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            888..975
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1057
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1149
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1206
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..1350
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..2017
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            2018..2115
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            2116..2202
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     exon            2203..5724
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5583..5588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /note="hexamer: AATAAA"
     polyA_site      5610
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /note="major polyA site"
     regulatory      5706..5711
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /note="hexamer: AATAAA"
     polyA_site      5724
                     /gene="USP45"
                     /gene_synonym="LCA19"
ORIGIN      
        1 aggttgtaga cgctgcggcc cggcccggcg ggtaaataac agatgcgggt gaaagatcca
       61 actaaagctt tacctgagaa agccaaaaga agtaaaaggc ctactgtacc tcatgatgaa
      121 gactcttcag atgatattgc tgtaggttta acttgccaac atgtaagtca tgctatcagc
      181 gtgaatcatg taaagagagc aatagctgag aatctgtggt cagtttgctc agaatgttta
      241 aaagaaagaa gattctatga tgggcagcta gtacttactt ctgatatttg gttgtgcctc
      301 aagtgtggct tccagggatg tggtaaaaac tcagaaagcc aacattcatt gaagcacttt
      361 aagagttcca gaacagagcc ccattgtatt ataattaatc tgagcacatg gattatatgg
      421 tgttatgaat gtgatgaaaa attatcaacg cattgtaata agaaggtttt ggctcagata
      481 gttgattttc tccagaaaca tgcttctaaa acacaaacaa gtgcattttc tagaatcatg
      541 aaactttgtg aagaaaaatg tgaaacagat gaaatacaga agggaggaaa atgcagaaat
      601 ttatctgtaa gaggaattac aaatttagga aatacttgct tttttaatgc agtcatgcag
      661 aacttggcac agacttatac tcttactgat ctgatgaatg agatcaaaga aagtagtaca
      721 aaactcaaga tttttccttc ctcagactct cagctggacc cattggtggt ggaactttca
      781 aggcctggac cactgacctc agccttgttc ctgtttcttc acagcatgaa ggagactgaa
      841 aaaggaccac tttctcctaa agttcttttt aatcagcttt gtcagaaggc acctcgattt
      901 aaagatttcc agcaacagga cagtcaggag cttcttcatt atcttctgga tgcagtgagg
      961 acagaagaaa caaagcgaat acaagctagc attctaaaag catttaacaa cccaactact
     1021 aaaactgctg atgatgaaac tagaaaaaaa gtcaaagcat atggaaaaga aggtgtgaaa
     1081 atgaacttca tagatcggat ctttattggt gaattaacta gcacggtcat gtgtgaagaa
     1141 tgtgcaaata tctccacggt gaaagatcca ttcattgata tttcacttcc tataatagaa
     1201 gaaagggttt caaaaccttt actttgggga agaatgaata aatatagaag tttacgggag
     1261 acagatcatg atcgatacag tggcaatgtt actatagaaa atattcatca acctagagct
     1321 gccaagaagc attcttcatc taaagataag agtcaactaa ttcatgaccg aaaatgtatt
     1381 agaaaattgt catctggaga aactgtcaca taccagaaaa atgaaaacct tgaaatgaat
     1441 ggggattctt taatgtttgc cagcctcatg aattctgagt cacgtctgaa tgaaagccct
     1501 actgatgaca gtgaaaaaga agccagccat tctgaaagca atgttgatgc tgacagtgag
     1561 ccttcagaat ctgaaagtgc ttcaaagcag actgggctgt tcagatccag tagtggatcc
     1621 ggtgtgcagc cagatggacc cctttaccct ctgtcagcag gtaaactgct gtacaccaag
     1681 gagactgaca gtggtgataa ggaaatggca gaagctattt ctgaacttcg tttgagcagc
     1741 actgtaactg gagatcaaga ttttgacaga gaaaatcagc cactaaatat ttcaaataat
     1801 ttatgttttt tagaggggaa gcatttgagg tcttatagtc cccaaaatgc ttttcagacc
     1861 ctttctcaga gctatataac tacttctaaa gaatgttcaa ttcagtcctg tctctaccag
     1921 tttacatcta tggaattact aatggggaat aataagcttc tatgtgagaa ttgtactaaa
     1981 aacaaacaga agtaccaaga agaaaccagt tttgcagaaa agaaagtaga aggagtttat
     2041 actaatgcca ggaagcaatt gctcatttct gctgttccag ctgtcctaat tctccacctg
     2101 aaaagatttc atcaggctgg cttgagtctt cgtaaagtaa acagacatgt agattttcca
     2161 cttatgctcg atttagcacc attctgctct gctacttgta aggtttgaaa gcggctgata
     2221 atgaatcagc aggccagtgg gtccatgtta gtgacactta cttacaggtg gttccagaat
     2281 caagagcact tagtgcacaa gcctaccttc ttttctatga aagagtatta taactattaa
     2341 tggtaatgat tatttaggtc atttgttttt gaatgccaca gtgataacta taatatataa
     2401 tgtgcctttc tagtcttccc tcttctgtag gaatagcatg ttcctcaaat ggtcctgaac
     2461 tttttcacca ttttggtgaa cccttttaaa gtaaatttac tcaatgcttt aaaattcata
     2521 gtcttaaaat aaatgtgaat tttgtttcca ggtatttatt ctggggtaca aaaacttccc
     2581 agaatttaca gtaggaaagg aaaccccttt atgatgtggc ttattattac aagcattcag
     2641 aaatgatgct ggctaagtca aatcattcct tgagacagtg attcctaaat gtaatgccac
     2701 cttcctgaac tctcacatat tctatatcat ggttatttta aaaaatatat ttttagcctt
     2761 ttgtaacctt agtcttgttt tgagcaatca tattccgtgt tttatgtgct tttatatttt
     2821 tataataaat attaaagtaa aactattaaa aattgtttat ccacgtacca cttaacttaa
     2881 aatcatctca gggccatcta gtggtatata tgtgtactac catttaggaa actgctataa
     2941 cacataattt catgaagtaa cacctaatac ggtgtagttc cctggtcata ttttatacaa
     3001 ttcaaccata taaaagggtg tcactgtaat ttcagtagtg tgggtttaca aataatctgc
     3061 tggttagctt attaccttga ggttttgaaa aactagaatt atattgaggc atttcataaa
     3121 catatctctt gcaccctctt catggtggag ttaaggataa cttgcaggtg gttggccaag
     3181 gcccaatata gatgattata acatttagaa ttggcaatta gaagttgata atccatatag
     3241 gaccatagga tagctttgaa atataaatta ccaaattata tttgtaaatg atagagaatt
     3301 atattcttaa cagaaaaata tatacttttt ctacttcttg taaatactaa acacagtttt
     3361 ggggttttga aatcactttg tcttcagcaa gcatcattaa taagttcagg tgaatttagc
     3421 ttttaatggg gcattaagct ggcatttttg attttctttt taaataatag caaaaatatc
     3481 atttttcccc tctagaatac aaattattga gctgtcaaaa cttggcatga agaatatact
     3541 attacttagg cttaaatatc aaaagataat ggctacttca gtgtcatatt gttgaaatag
     3601 aaacaaaact gcatggttca agcatcctaa tcattagtgc caatgaatga tagtgcaggc
     3661 aagtgccagg taaatgccta gtcccacttc attctcctcc tgggaagaaa ggataagaat
     3721 agtggctgca gataaggtat ggaaatattt aatcaagact gtcttaaaca cataagcata
     3781 tataatgtta tcaaggttac cagtgctgcc ttttgatata tggatgaaca taactgtaat
     3841 taaagacggt aatagtatac aaaatgcaga gcttaaaaat gtcattgcat aaattctatt
     3901 tttaagatgt tgaaatgtta gtagtgtttt tcttgatttt taacagtgaa ataatcaaga
     3961 aatatatctt taagttaatc tgcaaagtca ggctgtgttc tgtaaaaggt atttcacagc
     4021 attttctgtt taactgtaat ctgttatcat ggagatctca gtaccagagc agtgaatttt
     4081 ttgaaaaata ttgactgtct ttattcaagt cagccatctt ggtaagagca gttttcatcc
     4141 ccccactgcc caaatgtaaa tatagatcac ctaatttttc ttacagaaag atactgttaa
     4201 gaggcatgca cttttcatcg gatggtcact tgtttcttgt ttcaaagaca aatatttgga
     4261 tagataccca tacttgctat gagtcagtca cagtgctgac actattttaa catcatttaa
     4321 aatggaaaga tctacataga tttttgacat tattccagaa gtaacatgca agtaagatat
     4381 ttttattgtc attttcttca tgttaaagga gctacttatg aaacctattt ttttatggcc
     4441 tagagtttat gagtgctttt tccttgtctt ctgaaaatgg aataaattgg atttttgata
     4501 cttaagaatt tcctaaagat agcttttgta acagagaaag catgttaaat tacacatggg
     4561 tctaccttaa aatttttgtt attatttcca aagcacattt gcagggatag taaatgtata
     4621 tagtagcaag tctactataa taacagtagt ttctggatca cctcaggaaa cagtataaat
     4681 aaataataat gtttacttat catcaacata actaccatag tgtttgaatg aattaaagtt
     4741 tcattagctt tatttagaaa ctggtttacc ccagcttccc gtttttttcc aaatataaaa
     4801 tgataaaata ttgattatgt gccaatattg tcatttaatg ttcttaaaac ttgtgaagac
     4861 caccttttta ggtagctgag aagagtgata gttggtatca atttgttagc caggcatggt
     4921 ggctcatgct gttgggaggc tgagtgggga agatgcttga gcccaggagg tcaaggtgca
     4981 gtgaaccatg atcacaccac tgcattcctg cagagtgacg gagtgagacc ctgtctcaaa
     5041 aataaataaa aagaagacag ttggtatcaa ttcaaagaat agttgatgcc tgttctctta
     5101 ttttaaatgt accaacagag ctattttact gtatttaata gttcttagct tccatgtgtg
     5161 atgattttaa tcagtgattt tatgcaatag ctgaagaaaa ttttctgaag attaagctgt
     5221 gaaatgtatc aaccctcatc taatttttgt agtacaaaat gacatcctga ttccttttaa
     5281 aaattcacgt ttgtaattta tttttctgca tgtattgatc aaataagcct aaaccaaata
     5341 tgtgcaataa aattgagcct ttagatagta tctagtgcat tgttaaaaaa gattatttct
     5401 agatatttat gatgtttttg tttacgtaga aatcatgaat tcaaatgttt aaaagatgac
     5461 catattttca attttgagta atacatatta ttcctactgt tttttttctt ttgccatgtt
     5521 tctagaaaac agctgtgtaa cttattgagc gttattttgg tgttactgta taaaacatgc
     5581 ataataaata ttcttattta tctcatgtta caagattggt cctggaattt tcacagttta
     5641 cgttattgac agaatgtttt atcaacaatg catttgctta tgtcttagtc cactcaggct
     5701 gctataataa aataccatca acta
//
