LOCUS       NM_005430               2422 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens Wnt family member 1 (WNT1), mRNA.
ACCESSION   NM_005430
VERSION     NM_005430.4
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 2422)
  AUTHORS   Mehta,P., Vishvkarma,R., Gupta,S., Chattopadhyay,N. and Rajender,S.
  TITLE     Exome sequencing identified mutations in the WNT1 and COL1A2 genes
            in osteogenesis imperfecta cases
  JOURNAL   Mol Biol Rep 51 (1), 449 (2024)
   PUBMED   38536562
  REMARK    GeneRIF: Exome sequencing identified mutations in the WNT1 and
            COL1A2 genes in osteogenesis imperfecta cases.
            Erratum:[Mol Biol Rep. 2024 Nov 4;51(1):1117. doi:
            10.1007/s11033-024-10023-8.. PMID: 39495367]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2422)
  AUTHORS   Shree Harini,K. and Ezhilarasan,D.
  TITLE     Wnt/beta-catenin signaling and its modulators in nonalcoholic fatty
            liver diseases
  JOURNAL   Hepatobiliary Pancreat Dis Int 22 (4), 333-345 (2023)
   PUBMED   36448560
  REMARK    GeneRIF: Wnt/beta-catenin signaling and its modulators in
            nonalcoholic fatty liver diseases.
            Review article
REFERENCE   3  (bases 1 to 2422)
  AUTHORS   Hu,J., Lin,X., Gao,P., Zhang,Q., Zhou,B., Wang,O., Jiang,Y.,
            Xia,W., Xing,X. and Li,M.
  TITLE     Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants
            in a Large Cohort of Patients With OI/Osteoporosis
  JOURNAL   J Clin Endocrinol Metab 108 (7), 1776-1786 (2023)
   PUBMED   36595228
  REMARK    GeneRIF: Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1
            Variants in a Large Cohort of Patients With OI/Osteoporosis.
REFERENCE   4  (bases 1 to 2422)
  AUTHORS   Li,Y., Wang,Y., Zou,Q., Li,S. and Zhang,F.
  TITLE     KLF3 Transcription Activates WNT1 and Promotes the Growth and
            Metastasis of Gastric Cancer via Activation of the WNT/beta-Catenin
            Signaling Pathway
  JOURNAL   Lab Invest 103 (6), 100078 (2023)
   PUBMED   36827869
  REMARK    GeneRIF: KLF3 Transcription Activates WNT1 and Promotes the Growth
            and Metastasis of Gastric Cancer via Activation of the
            WNT/beta-Catenin Signaling Pathway.
REFERENCE   5  (bases 1 to 2422)
  AUTHORS   Pietrus,M., Pitynski,K., Waligora,M., Milian-Ciesielska,K.,
            Ludwin,A., Socha,M.W. and Skrzypek,K.
  TITLE     Association of Membranous WNT-1 and Nuclear mTOR with Endometrial
            Cancer Grade
  JOURNAL   Int J Mol Sci 24 (9), 8342 (2023)
   PUBMED   37176048
  REMARK    GeneRIF: Association of Membranous WNT-1 and Nuclear mTOR with
            Endometrial Cancer Grade.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2422)
  AUTHORS   Thomas,K.R. and Capecchi,M.R.
  TITLE     Targeted disruption of the murine int-1 proto-oncogene resulting in
            severe abnormalities in midbrain and cerebellar development
  JOURNAL   Nature 346 (6287), 847-850 (1990)
   PUBMED   2202907
REFERENCE   7  (bases 1 to 2422)
  AUTHORS   McMahon,A.P. and Moon,R.T.
  TITLE     int-1--a proto-oncogene involved in cell signalling
  JOURNAL   Development 107 Suppl, 161-167 (1989)
   PUBMED   2534596
  REMARK    Review article
REFERENCE   8  (bases 1 to 2422)
  AUTHORS   Arheden,K., Mandahl,N., Strombeck,B., Isaksson,M. and Mitelman,F.
  TITLE     Chromosome localization of the human oncogene INT1 to 12q13 by in
            situ hybridization
  JOURNAL   Cytogenet Cell Genet 47 (1-2), 86-87 (1988)
   PUBMED   3281802
REFERENCE   9  (bases 1 to 2422)
  AUTHORS   Turc-Carel,C., Pietrzak,E., Kakati,S., Kinniburgh,A.J. and
            Sandberg,A.A.
  TITLE     The human int-1 gene is located at chromosome region 12q12-12q13
            and is not rearranged in myxoid liposarcoma with t(12;16) (q13;p11)
  JOURNAL   Oncogene Res 1 (4), 397-405 (1987)
   PUBMED   3329717
REFERENCE   10 (bases 1 to 2422)
  AUTHORS   van Ooyen,A., Kwee,V. and Nusse,R.
  TITLE     The nucleotide sequence of the human int-1 mammary oncogene;
            evolutionary conservation of coding and non-coding sequences
  JOURNAL   EMBO J 4 (11), 2905-2909 (1985)
   PUBMED   2998762
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073610.17 and BC074798.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005430.3.
            
            Summary: The WNT gene family consists of structurally related genes
            which encode secreted signaling proteins. These proteins have been
            implicated in oncogenesis and in several developmental processes,
            including regulation of cell fate and patterning during
            embryogenesis. This gene is a member of the WNT gene family. It is
            very conserved in evolution, and the protein encoded by this gene
            is known to be 98% identical to the mouse Wnt1 protein at the amino
            acid level. The studies in mouse indicate that the Wnt1 protein
            functions in the induction of the mesencephalon and cerebellum.
            This gene was originally considered as a candidate gene for Joubert
            syndrome, an autosomal recessive disorder with cerebellar
            hypoplasia as a leading feature. However,  further studies
            suggested that the gene mutations might not have a significant role
            in Joubert syndrome. This gene is clustered with another family
            member, WNT10B, in the chromosome 12q13 region. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and orthologous data.
            
            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 :: BC074799.2, BT019429.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293549.4/ ENSP00000293549.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-293               AC073610.17        96394-96686
            294-1469            BC074798.2         1-1176
            1470-2422           AC073610.17        99740-100692
FEATURES             Location/Qualifiers
     source          1..2422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..2422
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
                     /note="Wnt family member 1"
                     /db_xref="GeneID:7471"
                     /db_xref="HGNC:HGNC:12774"
                     /db_xref="MIM:164820"
     exon            1..433
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
                     /inference="alignment:Splign:2.1.0"
     CDS             330..1442
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
                     /note="wingless-type MMTV integration site family, member
                     1 (oncogene INT1); proto-oncogene Int-1 homolog;
                     wingless-type MMTV integration site family member 1"
                     /codon_start=1
                     /product="proto-oncogene Wnt-1 precursor"
                     /protein_id="NP_005421.1"
                     /db_xref="CCDS:CCDS8776.1"
                     /db_xref="GeneID:7471"
                     /db_xref="HGNC:HGNC:12774"
                     /db_xref="MIM:164820"
                     /translation="MGLWALLPGWVSATLLLALAALPAALAANSSGRWWGIVNVASST
                     NLLTDSKSLQLVLEPSLQLLSRKQRRLIRQNPGILHSVSGGLQSAVRECKWQFRNRRW
                     NCPTAPGPHLFGKIVNRGCRETAFIFAITSAGVTHSVARSCSEGSIESCTCDYRRRGP
                     GGPDWHWGGCSDNIDFGRLFGREFVDSGEKGRDLRFLMNLHNNEAGRTTVFSEMRQEC
                     KCHGMSGSCTVRTCWMRLPTLRAVGDVLRDRFDGASRVLYGNRGSNRASRAELLRLEP
                     EDPAHKPPSPHDLVYFEKSPNFCTYSGRLGTAGTAGRACNSSSPALDGCELLCCGRGH
                     RTRTQRVTERCNCTFHWCCHVSCRNCTHTRVLHECL"
     exon            434..687
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
                     /inference="alignment:Splign:2.1.0"
     exon            688..953
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
                     /inference="alignment:Splign:2.1.0"
     exon            954..2422
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2172..2177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
                     /note="hexamer: AATAAA"
     polyA_site      2195
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
     regulatory      2397..2402
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
                     /note="hexamer: AATAAA"
     polyA_site      2422
                     /gene="WNT1"
                     /gene_synonym="BMND16; INT1; OI15"
                     /note="major polyA site"
ORIGIN      
        1 agacgggcgg gaaccacagc cccgctcgct gcccattgtc tgcgccccta accggtgcgc
       61 cctggtgcca cagtgcggcc cggaggggca gcctcctccc gtcacttcag ccagcgccgc
      121 aactataaga ggcggtgccg cccgccgtgg ccgcctcagc ccaccagccg ggaccgcgag
      181 ccatgctgtc cgccgcccgc ccccagggtt gttaaagcca gactgcgaac tctcgccact
      241 gccgccaccg ccgcgtcccg tcccaccgtc gcgggcaaca accaaagtcg ccgcaactgc
      301 agcacagagc gggcaaagcc aggcaggcca tggggctctg ggcgctgttg cctggctggg
      361 tttctgctac gctgctgctg gcgctggccg ctctgcccgc agccctggct gccaacagca
      421 gtggccgatg gtggggtatt gtgaacgtag cctcctccac gaacctgctt acagactcca
      481 agagtctgca actggtactc gagcccagtc tgcagctgtt gagccgcaaa cagcggcgtc
      541 tgatacgcca aaatccgggg atcctgcaca gcgtgagtgg ggggctgcag agtgccgtgc
      601 gcgagtgcaa gtggcagttc cggaatcgcc gctggaactg tcccactgct ccagggcccc
      661 acctcttcgg caagatcgtc aaccgaggct gtcgagaaac ggcgtttatc ttcgctatca
      721 cctccgccgg ggtcacccat tcggtggcgc gctcctgctc agaaggttcc atcgaatcct
      781 gcacgtgtga ctaccggcgg cgcggccccg ggggccccga ctggcactgg gggggctgca
      841 gcgacaacat tgacttcggc cgcctcttcg gccgggagtt cgtggactcc ggggagaagg
      901 ggcgggacct gcgcttcctc atgaaccttc acaacaacga ggcaggccgt acgaccgtat
      961 tctccgagat gcgccaggag tgcaagtgcc acgggatgtc cggctcatgc acggtgcgca
     1021 cgtgctggat gcggctgccc acgctgcgcg ccgtgggcga tgtgctgcgc gaccgcttcg
     1081 acggcgcctc gcgcgtcctg tacggcaacc gcggcagcaa ccgcgcttcg cgggcggagc
     1141 tgctgcgcct ggagccggaa gacccggccc acaaaccgcc ctccccccac gacctcgtct
     1201 acttcgagaa atcgcccaac ttctgcacgt acagcggacg cctgggcaca gcaggcacgg
     1261 cagggcgcgc ctgtaacagc tcgtcgcccg cgctggacgg ctgcgagctg ctctgctgcg
     1321 gcaggggcca ccgcacgcgc acgcagcgcg tcaccgagcg ctgcaactgc accttccact
     1381 ggtgctgcca cgtcagctgc cgcaactgca cgcacacgcg cgtactgcac gagtgtctgt
     1441 gaggcgctgc gcggactcgc ccccaggaac gctctcctcg agccctcccc caaacagact
     1501 cgctagcact caagacccgg ttattcgccc acccgagtac ctccagtcac actccccgcg
     1561 gttcatacgc atcccatctc tcccacttcc tcctacctgg ggactcctca aaccacttgc
     1621 ctggggcggc atgaaccctc ttgccatcct gatggacctg ccccggacct acctccctcc
     1681 ctctccgcgg gagacccctt gttgcactgc cccctgcttg gccaggaggt gagagaagga
     1741 tgggtcccct ccgccatggg gtcggctcct gatggtgtca ttctgcctgc tccatcgcgc
     1801 cagcgacctc tctgcctctc ttcttcccct ttgtcctgcg ttttctccgg gtcctcctaa
     1861 gtcccttcct attctcctgc catgggtgca gaccctgaac ccacacctgg gcatcagggc
     1921 ctttctcctc cccacctgta gctgaagcag gaggttacag ggcaaaaggg cagctgtgat
     1981 gatgtggaaa tgaggttggg ggaaccagca gaaatgcccc cattctccca gtctctgtcg
     2041 tggagccatt gaacagctgt gagccatgcc tccctgggcc acctcctacc ccttcctgtc
     2101 ctgcctcctc atcagtgtgt aaataatttg cactgaaacg tggatacaga gccacgagtt
     2161 tggatgttgt aaataaaact atttattgtg ctgggtccca gcctggtttg caaagaccac
     2221 ctccaaccca acccaatccc tctccactct tctctccttt ctccctgcag ccttttctgg
     2281 tccctcttct ctcctcagtt tctcaaagat gcgtttgcct cctggaatca gtatttcctt
     2341 ccactgtagc tattagcggc tcctcgcccc caccagtgta gcatcttcct ctgcagaata
     2401 aaatctctat ttttatcgat ga
//
