LOCUS       NM_004484               2267 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens glypican 3 (GPC3), transcript variant 2, mRNA.
ACCESSION   NM_004484
VERSION     NM_004484.4
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 2267)
  AUTHORS   .
  TITLE     Expression of Concern: Glypican-3 promotes cell proliferation and
            tumorigenesis through up-regulation of b-catenin expression in lung
            squamous cell carcinoma
  JOURNAL   Biosci Rep 44 (8) (2024)
   PUBMED   39139131
  REMARK    GeneRIF: Expression of Concern: Glypican-3 promotes cell
            proliferation and tumorigenesis through up-regulation of b-catenin
            expression in lung squamous cell carcinoma.
REFERENCE   2  (bases 1 to 2267)
  AUTHORS   Ning,J., Ding,J., Wang,S., Jiang,Y., Wang,D. and Jiang,S.
  TITLE     GPC3 Promotes Lung Squamous Cell Carcinoma Progression and
            HLA-A2-Restricted GPC3 Antigenic Peptide-Modified Dendritic
            Cell-Induced Cytotoxic T Lymphocytes to Kill Lung Squamous Cell
            Carcinoma Cells
  JOURNAL   J Immunol Res 2023, 5532617 (2023)
   PUBMED   37965271
  REMARK    GeneRIF: GPC3 Promotes Lung Squamous Cell Carcinoma Progression and
            HLA-A2-Restricted GPC3 Antigenic Peptide-Modified Dendritic
            Cell-Induced Cytotoxic T Lymphocytes to Kill Lung Squamous Cell
            Carcinoma Cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2267)
  AUTHORS   Davoodi,J., Kelly,J., Gendron,N.H. and MacKenzie,A.E.
  TITLE     The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to
            and inhibits the dipeptidyl peptidase activity of CD26
  JOURNAL   Proteomics 7 (13), 2300-2310 (2007)
   PUBMED   17549790
  REMARK    GeneRIF: Both the glycosylated and unglycosylated forms of GPC3
            interact with CD26 peptidase, resulting in inhibition of the
            enzyme.
REFERENCE   4  (bases 1 to 2267)
  AUTHORS   Hsu,H.C., Cheng,W. and Lai,P.L.
  TITLE     Cloning and expression of a developmentally regulated transcript
            MXR7 in hepatocellular carcinoma: biological significance and
            temporospatial distribution
  JOURNAL   Cancer Res 57 (22), 5179-5184 (1997)
   PUBMED   9371521
REFERENCE   5  (bases 1 to 2267)
  AUTHORS   Huber,R., Crisponi,L., Mazzarella,R., Chen,C.N., Su,Y., Shizuya,H.,
            Chen,E.Y., Cao,A. and Pilia,G.
  TITLE     Analysis of exon/intron structure and 400 kb of genomic sequence
            surrounding the 5'-promoter and 3'-terminal ends of the human
            glypican 3 (GPC3) gene
  JOURNAL   Genomics 45 (1), 48-58 (1997)
   PUBMED   9339360
REFERENCE   6  (bases 1 to 2267)
  AUTHORS   Lage,H. and Dietel,M.
  TITLE     Cloning and characterization of human cDNAs encoding a protein with
            high homology to rat intestinal development protein OCI-5
  JOURNAL   Gene 188 (2), 151-156 (1997)
   PUBMED   9133586
REFERENCE   7  (bases 1 to 2267)
  AUTHORS   Xuan,J.Y., Besner,A., Ireland,M., Hughes-Benzie,R.M. and
            MacKenzie,A.E.
  TITLE     Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27
  JOURNAL   Hum Mol Genet 3 (1), 133-137 (1994)
   PUBMED   7909248
REFERENCE   8  (bases 1 to 2267)
  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   9  (bases 1 to 2267)
  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
REFERENCE   10 (bases 1 to 2267)
  AUTHORS   Nisbet,A.F., Hathaway,E.R. and Kalish,J.M.
  TITLE     Simpson-Golabi-Behmel Syndrome Type 1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301398
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB107651.1, L47176.1 and
            AK222766.1.
            
            On Aug 31, 2019 this sequence version replaced NM_004484.3.
            
            Summary: Cell surface heparan sulfate proteoglycans are composed of
            a membrane-associated protein core substituted with a variable
            number of heparan sulfate chains. Members of the glypican-related
            integral membrane proteoglycan family (GRIPS) contain a core
            protein anchored to the cytoplasmic membrane via a glycosyl
            phosphatidylinositol linkage. These proteins may play a role in the
            control of cell division and growth regulation. The protein encoded
            by this gene can bind to and inhibit the dipeptidyl peptidase
            activity of CD26, and it can induce apoptosis in certain cell
            types. Deletion mutations in this gene are associated with
            Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia
            syndrome. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (2) that is shorter than isoform 1.
            
            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 :: AK222766.1, U50410.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370818.8/ ENSP00000359854.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 DB107651.1         53-53
            2-2262              L47176.1           3-2263
            2263-2267           AK222766.1         2262-2266
FEATURES             Location/Qualifiers
     source          1..2267
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.2"
     gene            1..2267
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /note="glypican 3"
                     /db_xref="GeneID:2719"
                     /db_xref="HGNC:HGNC:4451"
                     /db_xref="MIM:300037"
     exon            1..320
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             146..1888
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; glypican proteoglycan 3; intestinal protein
                     OCI-5; secreted glypican-3; heparan sulphate proteoglycan"
                     /codon_start=1
                     /product="glypican-3 isoform 2 precursor"
                     /protein_id="NP_004475.1"
                     /db_xref="CCDS:CCDS14638.1"
                     /db_xref="GeneID:2719"
                     /db_xref="HGNC:HGNC:4451"
                     /db_xref="MIM:300037"
                     /translation="MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQR
                     LQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEKYQLTARLNMEQLLQSASMELKF
                     LIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSD
                     INVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQ
                     VSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGG
                     YCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYV
                     QKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELI
                     QKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHEL
                     KMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGG
                     SGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLT
                     SMAISVVCFFFLVH"
     exon            321..482
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /inference="alignment:Splign:2.1.0"
     exon            483..1177
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1311
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1312..1437
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1558
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1559..1718
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1719..2267
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2247..2252
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /note="hexamer: AATAAA"
     polyA_site      2267
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /note="major polyA site"
ORIGIN      
        1 aggtagctgc gaggaaactt ttgcagcggc tgggtagcag cacgtctctt gctcctcagg
       61 gccactgcca ggcttgccga gtcctgggac tgctctcgct ccggctgcca ctctcccgcg
      121 ctctcctagc tccctgcgaa gcaggatggc cgggaccgtg cgcaccgcgt gcttggtggt
      181 ggcgatgctg ctcagcttgg acttcccggg acaggcgcag cccccgccgc cgccgccgga
      241 cgccacctgt caccaagtcc gctccttctt ccagagactg cagcccggac tcaagtgggt
      301 gccagaaact cccgtgccag gatcagattt gcaagtatgt ctccctaagg gcccaacatg
      361 ctgctcaaga aagatggaag aaaaatacca actaacagca cgattgaaca tggaacagct
      421 gcttcagtct gcaagtatgg agctcaagtt cttaattatt cagaatgctg cggttttcca
      481 agaggccttt gaaattgttg ttcgccatgc caagaactac accaatgcca tgttcaagaa
      541 caactaccca agcctgactc cacaagcttt tgagtttgtg ggtgaatttt tcacagatgt
      601 gtctctctac atcttgggtt ctgacatcaa tgtagatgac atggtcaatg aattgtttga
      661 cagcctgttt ccagtcatct atacccagct aatgaaccca ggcctgcctg attcagcctt
      721 ggacatcaat gagtgcctcc gaggagcaag acgtgacctg aaagtatttg ggaatttccc
      781 caagcttatt atgacccagg tttccaagtc actgcaagtc actaggatct tccttcaggc
      841 tctgaatctt ggaattgaag tgatcaacac aactgatcac ctgaagttca gtaaggactg
      901 tggccgaatg ctcaccagaa tgtggtactg ctcttactgc cagggactga tgatggttaa
      961 accctgtggc ggttactgca atgtggtcat gcaaggctgt atggcaggtg tggtggagat
     1021 tgacaagtac tggagagaat acattctgtc ccttgaagaa cttgtgaatg gcatgtacag
     1081 aatctatgac atggagaacg tactgcttgg tctcttttca acaatccatg attctatcca
     1141 gtatgtccag aagaatgcag gaaagctgac caccactatt ggcaagttat gtgcccattc
     1201 tcaacaacgc caatatagat ctgcttatta tcctgaagat ctctttattg acaagaaagt
     1261 attaaaagtt gctcatgtag aacatgaaga aaccttatcc agccgaagaa gggaactaat
     1321 tcagaagttg aagtctttca tcagcttcta tagtgctttg cctggctaca tctgcagcca
     1381 tagccctgtg gcggaaaacg acaccctttg ctggaatgga caagaactcg tggagagata
     1441 cagccaaaag gcagcaagga atggaatgaa aaaccagttc aatctccatg agctgaaaat
     1501 gaagggccct gagccagtgg tcagtcaaat tattgacaaa ctgaagcaca ttaaccagct
     1561 cctgagaacc atgtctatgc ccaaaggtag agttctggat aaaaacctgg atgaggaagg
     1621 gtttgaaagt ggagactgcg gtgatgatga agatgagtgc attggaggct ctggtgatgg
     1681 aatgataaaa gtgaagaatc agctccgctt ccttgcagaa ctggcctatg atctggatgt
     1741 ggatgatgcg cctggaaaca gtcagcaggc aactccgaag gacaacgaga taagcacctt
     1801 tcacaacctc gggaacgttc attccccgct gaagcttctc accagcatgg ccatctcggt
     1861 ggtgtgcttc ttcttcctgg tgcactgact gcctggtgcc cagcacatgt gctgccctac
     1921 agcaccctgt ggtcttcctc gataaaggga accactttct tatttttttc tatttttttt
     1981 tttttgttat cctgtatacc tcctccagcc atgaagtaga ggactaacca tgtgttatgt
     2041 tttcgaaaat caaatggtat cttttggagg aagatacatt ttagtggtag catatagatt
     2101 gtccttttgc aaagaaagaa aaaaaaccat caagttgtgc caaattattc tcctatgttt
     2161 ggctgctaga acatggttac catgtctttc tctctcactc cctccctttc tatcgttctc
     2221 tctttgcatg gatttctttg aaaaaaaata aattgctcaa ataaaaa
//
