LOCUS       NM_024426               3031 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens WT1 transcription factor (WT1), transcript variant 4,
            mRNA.
ACCESSION   NM_024426
VERSION     NM_024426.6
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 3031)
  AUTHORS   Hastie,N.D.
  TITLE     Wilms' tumour 1 (WT1) in development, homeostasis and disease
  JOURNAL   Development 144 (16), 2862-2872 (2017)
   PUBMED   28811308
  REMARK    Review article
REFERENCE   2  (bases 1 to 3031)
  AUTHORS   Wagner,K.D., Wagner,N. and Schedl,A.
  TITLE     The complex life of WT1
  JOURNAL   J Cell Sci 116 (Pt 9), 1653-1658 (2003)
   PUBMED   12665546
  REMARK    GeneRIF: Alternative splicing, RNA editing, and the use of
            alternative translation initiation sites generate a multitude of
            isoforms, which seem to have overlapping but also distinct
            functions during embryonic development and the maintenance of organ
            function.
            Review article
REFERENCE   3  (bases 1 to 3031)
  AUTHORS   Mitsuya,K., Sui,H., Meguro,M., Kugoh,H., Jinno,Y., Niikawa,N. and
            Oshimura,M.
  TITLE     Paternal expression of WT1 in human fibroblasts and lymphocytes
  JOURNAL   Hum Mol Genet 6 (13), 2243-2246 (1997)
   PUBMED   9361029
  REMARK    GeneRIF: WT1 gene is expressed from the paternal allele in
            fibroblasts and lymphocytes.
REFERENCE   4  (bases 1 to 3031)
  AUTHORS   Bruening,W. and Pelletier,J.
  TITLE     A non-AUG translational initiation event generates novel WT1
            isoforms
  JOURNAL   J Biol Chem 271 (15), 8646-8654 (1996)
   PUBMED   8621495
  REMARK    GeneRIF: Use of non-AUG (CUG) translation initiation site upstream
            of, and in-frame with the first AUG, generates longer WT1 isoforms.
REFERENCE   5  (bases 1 to 3031)
  AUTHORS   Sharma,P.M., Bowman,M., Madden,S.L., Rauscher,F.J. 3rd and
            Sukumar,S.
  TITLE     RNA editing in the Wilms' tumor susceptibility gene, WT1
  JOURNAL   Genes Dev 8 (6), 720-731 (1994)
   PUBMED   7926762
REFERENCE   6  (bases 1 to 3031)
  AUTHORS   Jinno,Y., Yun,K., Nishiwaki,K., Kubota,T., Ogawa,O., Reeve,A.E. and
            Niikawa,N.
  TITLE     Mosaic and polymorphic imprinting of the WT1 gene in humans
  JOURNAL   Nat Genet 6 (3), 305-309 (1994)
   PUBMED   8012395
  REMARK    GeneRIF: WT1 gene exhibits complex tissue-specific and polymorphic
            imprinting pattern.
REFERENCE   7  (bases 1 to 3031)
  AUTHORS   Lipska-Zietkiewicz,B.S.
  TITLE     WT1 Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32352694
REFERENCE   8  (bases 1 to 3031)
  AUTHORS   Delot,E.C. and Vilain,E.J.
  TITLE     Nonsyndromic 46,XX Testicular Disorders/Differences of Sex
            Development
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301589
REFERENCE   9  (bases 1 to 3031)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   10 (bases 1 to 3031)
  AUTHORS   Turner,J.T., Brzezinski,J. and Dome,J.S.
  TITLE     Wilms Tumor Predisposition
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301471
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB971668.1, X51630.1, M30393.1,
            AK093168.1 and BC046461.1.
            
            On Jun 2, 2019 this sequence version replaced NM_024426.5.
            
            Summary: This gene encodes a transcription factor that contains
            four zinc-finger motifs at the C-terminus and a
            proline/glutamine-rich DNA-binding domain at the N-terminus. It has
            an essential role in the normal development of the urogenital
            system, and it is mutated in a small subset of patients with Wilms
            tumor. This gene exhibits complex tissue-specific and polymorphic
            imprinting pattern, with biallelic, and monoallelic expression from
            the maternal and paternal alleles in different tissues. Multiple
            transcript variants have been described. In several variants, there
            is evidence for the use of a non-AUG (CUG) translation initiation
            codon upstream of, and in-frame with the first AUG. Authors of
            PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA
            editing in human and rat, and that this process is
            tissue-restricted and developmentally regulated. [provided by
            RefSeq, Mar 2015].
            
            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 :: X51630.1, MH550345.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene           :: PMID: 9361029, 8012395
            MANE Ensembl match       :: ENST00000452863.10/ ENSP00000415516.5
            non-AUG initiation codon :: PMID: 8621495
            RefSeq Select criteria   :: based on manual assertion,
                                        conservation, expression, longest
                                        protein
            undergoes RNA editing    :: PMID: 7926762, 12045112
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1144              AB971668.1         3-1146
            1145-2014           X51630.1           1127-1996
            2015-2798           M30393.1           1305-2088
            2799-3028           AK093168.1         2192-2421
            3029-3031           BC046461.1         3025-3027
FEATURES             Location/Qualifiers
     source          1..3031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..3031
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /note="WT1 transcription factor"
                     /db_xref="GeneID:7490"
                     /db_xref="HGNC:HGNC:12796"
                     /db_xref="MIM:607102"
     exon            1..840
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     CDS             180..1748
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /note="isoform D is encoded by transcript variant 4;
                     non-AUG (CUG) translation initiation codon; Wilms tumor 1"
                     /codon_start=1
                     /product="Wilms tumor protein isoform D"
                     /protein_id="NP_077744.4"
                     /db_xref="CCDS:CCDS7878.3"
                     /db_xref="GeneID:7490"
                     /db_xref="HGNC:HGNC:12796"
                     /db_xref="MIM:607102"
                     /translation="MDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGI
                     WAKLGAAEASAERLQGRRSRGASGSEPQQMGSDVRDLNALLPAVPSLGGGGGCALPVS
                     GAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQ
                     CLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIR
                     NQGYSTVTFDGTPSYGHTPSHHAAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCH
                     TPTDSCTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATLKGVAAGSSSSVKWT
                     EGQSNHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPTLVRSASETSE
                     KRPFMCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRH
                     TGVKPFQCKTCQRKFSRSDHLKTHTRTHTGKTSEKPFSCRWPSCQKKFARSDELVRHH
                     NMHQRNMTKLQLAL"
     exon            841..963
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1066
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1144
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     exon            1145..1195
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1292
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     exon            1293..1443
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1533
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..1626
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     exon            1627..3031
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3009..3014
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /note="hexamer: ATTAAA"
     polyA_site      3031
                     /gene="WT1"
                     /gene_synonym="AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT33"
                     /note="major polyA site"
ORIGIN      
        1 aggcagctgg ggtaaggagt tcaaggcagc gcccacaccc gggggctctc cgcaacccga
       61 ccgcctgtcc gctcccccac ttcccgccct ccctcccacc tactcattca cccacccacc
      121 cacccagagc cgggacggca gcccaggcgc ccgggccccg ccgtctcctc gccgcgatcc
      181 tggacttcct cttgctgcag gacccggctt ccacgtgtgt cccggagccg gcgtctcagc
      241 acacgctccg ctccgggcct gggtgcctac agcagccaga gcagcaggga gtccgggacc
      301 cgggcggcat ctgggccaag ttaggcgccg ccgaggccag cgctgaacgt ctccagggcc
      361 ggaggagccg cggggcgtcc gggtctgagc cgcagcaaat gggctccgac gtgcgggacc
      421 tgaacgcgct gctgcccgcc gtcccctccc tgggtggcgg cggcggctgt gccctgcctg
      481 tgagcggcgc ggcgcagtgg gcgccggtgc tggactttgc gcccccgggc gcttcggctt
      541 acgggtcgtt gggcggcccc gcgccgccac cggctccgcc gccacccccg ccgccgccgc
      601 ctcactcctt catcaaacag gagccgagct ggggcggcgc ggagccgcac gaggagcagt
      661 gcctgagcgc cttcactgtc cacttttccg gccagttcac tggcacagcc ggagcctgtc
      721 gctacgggcc cttcggtcct cctccgccca gccaggcgtc atccggccag gccaggatgt
      781 ttcctaacgc gccctacctg cccagctgcc tcgagagcca gcccgctatt cgcaatcagg
      841 gttacagcac ggtcaccttc gacgggacgc ccagctacgg tcacacgccc tcgcaccatg
      901 cggcgcagtt ccccaaccac tcattcaagc atgaggatcc catgggccag cagggctcgc
      961 tgggtgagca gcagtactcg gtgccgcccc cggtctatgg ctgccacacc cccaccgaca
     1021 gctgcaccgg cagccaggct ttgctgctga ggacgcccta cagcagtgac aatttatacc
     1081 aaatgacatc ccagcttgaa tgcatgacct ggaatcagat gaacttagga gccaccttaa
     1141 agggagttgc tgctgggagc tccagctcag tgaaatggac agaagggcag agcaaccaca
     1201 gcacagggta cgagagcgat aaccacacaa cgcccatcct ctgcggagcc caatacagaa
     1261 tacacacgca cggtgtcttc agaggcattc aggatgtgcg acgtgtgcct ggagtagccc
     1321 cgactcttgt acggtcggca tctgagacca gtgagaaacg ccccttcatg tgtgcttacc
     1381 caggctgcaa taagagatat tttaagctgt cccacttaca gatgcacagc aggaagcaca
     1441 ctggtgagaa accataccag tgtgacttca aggactgtga acgaaggttt tctcgttcag
     1501 accagctcaa aagacaccaa aggagacata caggtgtgaa accattccag tgtaaaactt
     1561 gtcagcgaaa gttctcccgg tccgaccacc tgaagaccca caccaggact catacaggta
     1621 aaacaagtga aaagcccttc agctgtcggt ggccaagttg tcagaaaaag tttgcccggt
     1681 cagatgaatt agtccgccat cacaacatgc atcagagaaa catgaccaaa ctccagctgg
     1741 cgctttgagg ggtctccctc ggggaccgtt cagtgtccca ggcagcacag tgtgtgaact
     1801 gctttcaagt ctgactctcc actcctcctc actaaaaagg aaacttcagt tgatcttctt
     1861 catccaactt ccaagacaag ataccggtgc ttctggaaac taccaggtgt gcctggaaga
     1921 gttggtctct gccctgccta cttttagttg actcacaggc cctggagaag cagctaacaa
     1981 tgtctggtta gttaaaagcc cattgccatt tggtgtggat tttctactgt aagaagagcc
     2041 atagctgatc atgtccccct gacccttccc ttcttttttt atgctcgttt tcgctgggga
     2101 tggaattatt gtaccatttt ctatcatgga atatttatag gccagggcat gtgtatgtgt
     2161 ctgctaatgt aaactttgtc atggtttcca tttactaaca gcaacagcaa gaaataaatc
     2221 agagagcaag gcatcggggg tgaatcttgt ctaacattcc cgaggtcagc caggctgcta
     2281 acctggaaag caggatgtag ttctgccagg caacttttaa agctcatgca tttcaagcag
     2341 ctgaagaaaa aatcagaact aaccagtacc tctgtataga aatctaaaag aattttacca
     2401 ttcagttaat tcaatgtgaa cactggcaca ctgctcttaa gaaactatga agatctgaga
     2461 tttttttgtg tatgtttttg actcttttga gtggtaatca tatgtgtctt tatagatgta
     2521 catacctcct tgcacaaatg gaggggaatt cattttcatc actgggagtg tccttagtgt
     2581 ataaaaacca tgctggtata tggcttcaag ttgtaaaaat gaaagtgact ttaaaagaaa
     2641 ataggggatg gtccaggatc tccactgata agactgtttt taagtaactt aaggaccttt
     2701 gggtctacaa gtatatgtga aaaaaatgag acttactggg tgaggaaatc cattgtttaa
     2761 agatggtcgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gttgtgttgt gttttgtttt
     2821 ttaagggagg gaatttatta tttaccgttg cttgaaatta ctgtgtaaat atatgtctga
     2881 taatgatttg ctctttgaca actaaaatta ggactgtata agtactagat gcatcactgg
     2941 gtgttgatct tacaagatat tgatgataac acttaaaatt gtaacctgca tttttcactt
     3001 tgctctcaat taaagtctat tcaaaaggaa a
//
