LOCUS       NM_020839               3965 bp    mRNA    linear   PRI 10-DEC-2024
DEFINITION  Homo sapiens WD repeat domain 48 (WDR48), transcript variant 1,
            mRNA.
ACCESSION   NM_020839
VERSION     NM_020839.4
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 3965)
  AUTHORS   Yu,Z., Tong,L., Ma,C., Song,H., Wang,J., Chai,L., Wang,C., Wang,M.,
            Wang,C., Yan,R., Fu,Y., Jia,M., Zhao,W. and Zhao,C.
  TITLE     The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and
            Facilitates Antiviral Responses
  JOURNAL   J Immunol 212 (2), 295-301 (2024)
   PUBMED   38054892
  REMARK    GeneRIF: The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and
            Facilitates Antiviral Responses.
REFERENCE   2  (bases 1 to 3965)
  AUTHORS   Zarrella,K., Longmire,P., Zeltzer,S., Collins-McMillen,D.,
            Hancock,M., Buehler,J., Reitsma,J.M., Terhune,S.S., Nelson,J.A. and
            Goodrum,F.
  TITLE     Human cytomegalovirus UL138 interaction with USP1 activates STAT1
            in infection
  JOURNAL   PLoS Pathog 19 (6), e1011185 (2023)
   PUBMED   37289831
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3965)
  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 3965)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3965)
  AUTHORS   Rennie,M.L., Arkinson,C., Chaugule,V.K., Toth,R. and Walden,H.
  TITLE     Structural basis of FANCD2 deubiquitination by USP1-UAF1
  JOURNAL   Nat Struct Mol Biol 28 (4), 356-364 (2021)
   PUBMED   33795880
  REMARK    GeneRIF: Structural basis of FANCD2 deubiquitination by USP1-UAF1.
REFERENCE   6  (bases 1 to 3965)
  AUTHORS   Cote-Martin,A., Moody,C., Fradet-Turcotte,A., D'Abramo,C.M.,
            Lehoux,M., Joubert,S., Poirier,G.G., Coulombe,B., Laimins,L.A. and
            Archambault,J.
  TITLE     Human papillomavirus E1 helicase interacts with the WD repeat
            protein p80 to promote maintenance of the viral genome in
            keratinocytes
  JOURNAL   J Virol 82 (3), 1271-1283 (2008)
   PUBMED   18032488
  REMARK    GeneRIF: These findings suggest that the interaction of human
            papillomavirus 11 and 31 E1 proteins with p80 is required for
            efficient maintenance of the viral episome in undifferentiated
            keratinocytes.
REFERENCE   7  (bases 1 to 3965)
  AUTHORS   Cohn,M.A., Kowal,P., Yang,K., Haas,W., Huang,T.T., Gygi,S.P. and
            D'Andrea,A.D.
  TITLE     A UAF1-containing multisubunit protein complex regulates the
            Fanconi anemia pathway
  JOURNAL   Mol Cell 28 (5), 786-797 (2007)
   PUBMED   18082604
REFERENCE   8  (bases 1 to 3965)
  AUTHORS   Park,J., Cho,N.H., Choi,J.K., Feng,P., Choe,J. and Jung,J.U.
  TITLE     Distinct roles of cellular Lck and p80 proteins in herpesvirus
            saimiri Tip function on lipid rafts
  JOURNAL   J Virol 77 (16), 9041-9051 (2003)
   PUBMED   12885920
REFERENCE   9  (bases 1 to 3965)
  AUTHORS   Park,J., Lee,B.S., Choi,J.K., Means,R.E., Choe,J. and Jung,J.U.
  TITLE     Herpesviral protein targets a cellular WD repeat endosomal protein
            to downregulate T lymphocyte receptor expression
  JOURNAL   Immunity 17 (2), 221-233 (2002)
   PUBMED   12196293
REFERENCE   10 (bases 1 to 3965)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB040882.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_020839.3.
            
            Summary: The protein encoded by this gene has been shown to
            interact with ubiquitin specific peptidase 1 (USP1), activating the
            deubiquitinating activity of USP1 and allowing it to remove the
            ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is
            ubiquitinated in response to DNA damage. [provided by RefSeq, Sep
            2016].
            
            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 :: AK025513.1, AB040882.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302313.10/ ENSP00000307491.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3965              AB040882.2         2-3966
FEATURES             Location/Qualifiers
     source          1..3965
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     gene            1..3965
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /note="WD repeat domain 48"
                     /db_xref="GeneID:57599"
                     /db_xref="HGNC:HGNC:30914"
                     /db_xref="MIM:612167"
     exon            1..58
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..2044
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /note="isoform 1 is encoded by transcript variant 1; WD
                     repeat endosomal protein; WD repeat-containing protein 48;
                     USP1 associated factor 1; testicular tissue protein Li
                     224"
                     /codon_start=1
                     /product="WD repeat-containing protein 48 isoform 1"
                     /protein_id="NP_065890.1"
                     /db_xref="CCDS:CCDS33738.1"
                     /db_xref="GeneID:57599"
                     /db_xref="HGNC:HGNC:30914"
                     /db_xref="MIM:612167"
                     /translation="MAAHHRQNTAGRRKVQVSYVIRDEVEKYNRNGVNALQLDPALNR
                     LFTAGRDSIIRIWSVNQHKQDPYIASMEHHTDWVNDIVLCCNGKTLISASSDTTVKVW
                     NAHKGFCMSTLRTHKDYVKALAYAKDKELVASAGLDRQIFLWDVNTLTALTASNNTVT
                     TSSLSGNKDSIYSLAMNQLGTIIVSGSTEKVLRVWDPRTCAKLMKLKGHTDNVKALLL
                     NRDGTQCLSGSSDGTIRLWSLGQQRCIATYRVHDEGVWALQVNDAFTHVYSGGRDRKI
                     YCTDLRNPDIRVLICEEKAPVLKMELDRSADPPPAIWVATTKSTVNKWTLKGIHNFRA
                     SGDYDNDCTNPITPLCTQPDQVIKGGASIIQCHILNDKRHILTKDTNNNVAYWDVLKA
                     CKVEDLGKVDFEDEIKKRFKMVYVPNWFSVDLKTGMLTITLDESDCFAAWVSAKDAGF
                     SSPDGSDPKLNLGGLLLQALLEYWPRTHVNPMDEEENEVNHVNGEQENRVQKGNGYFQ
                     VPPHTPVIFGEAGGRTLFRLLCRDSGGETESMLLNETVPQWVIDITVDKNMPKFNKIP
                     FYLQPHASSGAKTLKKDRLSASDMLQVRKVMEHVYEKIINLDNESQTTSSSNNEKPGE
                     QEKEEDIAVLAEEKIELLCQDQVLDPNMDLRTVKHFIWKSGGDLTLHYRQKST"
     exon            59..199
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            200..278
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            279..361
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            362..491
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            492..580
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            581..682
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            683..907
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            908..982
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1085
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1183
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1291
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1388
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..1484
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..1590
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..1678
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1679..1755
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1756..1948
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1949..3965
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3944..3949
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /note="hexamer: AATAAA"
     polyA_site      3965
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /note="major polyA site"
ORIGIN      
        1 aacatgcaag atggcggccc atcaccggca gaacacagca gggcggagga aagtgcaggt
       61 ttcctatgtt attcgagatg aagtggagaa gtacaaccga aatggagtca atgctctgca
      121 gctggatcca gcactaaata gacttttcac agccggtcga gactctatca taagaatatg
      181 gagtgtcaat cagcacaagc aagatccata tatagcatct atggaacacc atactgattg
      241 ggtaaacgac attgtactct gttgtaatgg gaaaacatta atatctgctt cttctgacac
      301 gacagtaaaa gtatggaatg cacacaaggg attttgcatg tcaacattaa ggacacataa
      361 ggattacgta aaggccttag catatgccaa ggataaagaa ctagtagcat cagctgggtt
      421 ggacagacaa atattccttt gggatgtgaa tactctaaca gcattgactg cctcaaataa
      481 cactgtcaca acttcttctt taagtggaaa caaagattcc atttatagcc tggccatgaa
      541 tcaactggga acaatcattg tatcagggtc cactgaaaag gtgttacggg tatgggatcc
      601 aagaacatgt gcaaaactaa tgaagcttaa agggcacacg gataatgtga aggcattgct
      661 attaaacaga gatggcacgc aatgcctgtc aggcagttct gatgggacaa ttcgcctttg
      721 gtcccttggc cagcagagat gtatagcaac ataccgagtc catgatgaag gtgtttgggc
      781 gctgcaagtc aatgatgcct tcacacatgt gtattctggt ggaagggaca ggaagattta
      841 ttgtacagac ctaagaaacc ctgacattcg ggtgctaatt tgtgaagaaa aagcaccagt
      901 tctcaagatg gagcttgata gatcagctga tcctcctcct gcaatttggg ttgcaacaac
      961 taagtctaca gtaaataaat ggactttgaa aggaattcat aattttagag cctctggaga
     1021 ttatgacaat gactgtacaa atcctataac acctctttgt acacaacctg accaggttat
     1081 taaagggggt gctagtatta ttcagtgcca cattcttaat gataagagac atatattaac
     1141 caaagatacc aataataatg tggcatattg ggatgtattg aaggcatgta aagttgaaga
     1201 tctgggcaaa gtggattttg aagatgaaat taagaaaaga tttaaaatgg tgtatgtgcc
     1261 aaattggttc tcagtagact taaaaacagg gatgttaact attactttgg atgaaagtga
     1321 ttgttttgct gcctgggttt ctgcaaaaga tgctggtttc agcagccctg atgggtcaga
     1381 tccaaaattg aatttaggag gacttttact ccaagcactc ctggaatatt ggcctagaac
     1441 acatgtgaat ccaatggatg aagaggaaaa tgaagtaaac catgtaaatg gggagcagga
     1501 gaaccgagtg cagaagggaa atggatattt tcaagtgccc ccacatacac ccgtgatctt
     1561 tggtgaagct ggaggtcgca cactgttcag gctgctctgc cgagattccg ggggtgagac
     1621 tgagtctatg cttcttaatg aaacagtgcc acaatgggta attgacatca ctgtggataa
     1681 aaatatgccc aaattcaaca aaattccttt ctacctccaa cctcatgcat cttcaggagc
     1741 aaaaacctta aaaaaagata gactctctgc tagtgacatg ctccaagtcc gaaaagttat
     1801 ggaacatgtt tatgaaaaaa ttatcaactt ggataatgag tctcaaacca ctagctcttc
     1861 taataatgaa aaaccaggag aacaggaaaa agaagaagat attgctgtgt tggcagagga
     1921 gaaaattgaa cttttgtgcc aggaccaggt tttggatcca aatatggacc ttcgaacagt
     1981 gaaacacttc atatggaaga gcggtggaga cctcaccctc cattaccgtc agaagtccac
     2041 gtgaaggctg ggctaatgct cctggatatt catttacgac cttcctctat ggccccaaga
     2101 gtagtcctag gaagcccact gatccccaac gggagcaaga cttctaacgg ctgattggta
     2161 tggaccgaga ttatctttca attgaagtga ctaatcgaga tgtaatatag aaaccagtct
     2221 ccatgtgtag attaagctgt ccccagggaa gcagagtgca agagcagaag agccccaagc
     2281 agactatgtc tttcaagatg tacagaagac tgacaacagg ccagtgcaga ctttgcttcc
     2341 tccttttgtt tcaaaggacc ttatctaccc attaacactt gttagagaca cctcagtcgg
     2401 gccacaactg tctctgtttc aactttaagc ccacacactc tgtagctttt ctaaaacagt
     2461 acattccatt catgcagtag atatgaaggc tttttccaag tttgtcatat aaagtaatca
     2521 aattgttttc accgtttaag acagttattt ttaatgggaa tttgctgttg cacaatttga
     2581 gaaccagccc atttcataat aaaagattaa tgttgggctt gttgttaata ttgcatctca
     2641 gatgtgttct tgtaggaaga tctgttgaaa ttccaggtgc tggatcatag cacttggact
     2701 gttgggccgg agtttgtgca gcccatgcct agcgatgctg cacctcccat gatgtcctgg
     2761 ctttgtggca accccaggga ggtgcagcag tttcactcct tcctccactg tgtccagttt
     2821 tatttacaca aagcgagctg agaccacagg ttcttgctct ggatgagcag catgacacca
     2881 tcaaaattta agaccatgat gaaatttcag tttcattcaa atgttaccta aaatttatgg
     2941 tgtcagaata aagggagatc atagtgagtt aatttgatat tcatatcctg gaagtataca
     3001 tatttgtttt tccaaagttt tatatgcagg tttttgttgt acctgtatcc agatcttctt
     3061 ttcactgttc taacaatcta acactttcat agaatcattt ggatcttgta tagagtgtaa
     3121 cttattgggg ataaacactt caacttttgg cagaaaatac tttggattct ccccaaggtc
     3181 atttgtattc agagtaaatc agtggtccac ccccataaaa ctgtaagaca agcctcctgt
     3241 atgaagccag aagcacaagt gccttcagag ggcagttgat tccagtccag ttgcctccct
     3301 agcttgtgtg tggcctgcct ccaccatagc agggactagg gagggaggca gggaacgttt
     3361 tttcttttct acatcttcac aggttcggct gggggcagct gataggccta aggccatacc
     3421 ttactattta agatactctg atcgcacaac tgcagagaca gggttccctc actgctagtc
     3481 agcttctttt ggaaactgga caggccattg ccacctgcac tttgaagaag tgagcaaaga
     3541 cgtggccaca tttctaataa gttgaaatgg tctttctccc ttcctcagag agcaaccagc
     3601 ttcttttttt ttaaaagtcc tttctatctg ttggatacaa cagtgtgctt ttggtgcaca
     3661 ttttttagca atagttgtga attaatggca aagaaaaaaa aaattattta ccagccctca
     3721 gttgtgtttg cccgaggggc ctttgagcaa agaaatgggt tttgctgggt cattttgccc
     3781 tgtgtgctaa gccttgggtg gctgcattcc cctcctgtca tagatctgac ccccagcatg
     3841 attgtatttc tttcccctcc agtcaaaccg taatacagtt tccagaaaat tcgacagtct
     3901 gcaatgccaa aagggtaaaa atctgtattt cacagttgta tagaataaag gctttagtta
     3961 aaata
//
