LOCUS HUMWX2 2130 bp mRNA linear HUM 24-APR-1996
DEFINITION Homo sapiens (chromosome X) glypican (GPC3) mRNA, complete cds.
ACCESSION L47125
VERSION L47125.1
KEYWORDS GPC3 gene; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel
syndrome; extracellular proteoglycan; glypican; proteoglycan.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (sites)
AUTHORS Pilia,G., Hughes-Benzie,R.M., MacKenzie,A., Baybayan,P., Chen,E.Y.,
Huber,R., Neri,G., Cao,A., Forabosco,A. and Schlessinger,D.
TITLE Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel
overgrowth syndrome
JOURNAL Nat. Genet. 12 (3), 241-247 (1996)
PUBMED 8589713
COMMENT Original source text: Homo sapiens (clone: cSGB-1) (clone library:
cDNA 8 week human embryo) cDNA to mRNA.
FEATURES Location/Qualifiers
source 1..2130
/db_xref="H-InvDB:HIT000193909"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="Xq26"
/clone="cSGB-1"
/clone_lib="cDNA 8 week human embryo"
/note="cloning vector - lambda gt10"
gene 1..2130
/gene="GPC3"
mRNA 1..>2130
/gene="GPC3"
5'UTR 1..151
/gene="GPC3"
CDS 152..1894
/gene="GPC3"
/codon_start=1
/product="glypican"
/protein_id="AAA98132.1"
/translation="MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQR
LQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEKYQLTARLNMEQLLQSASMELKF
LIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSD
INVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQ
VSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGG
YCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYV
QKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELI
QKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHEL
KMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGG
SGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLT
SMAISVVCFFFLVH"
3'UTR 1895..>2130
/gene="GPC3"
BASE COUNT 560 a 513 c 513 g 544 t
ORIGIN
1 gcgcccaggt agctgcgagg aaacttttgc agcggctggg tagcagcacg tctcttgctc
61 ctcagggcca ctgccaggct tgccgagtcc tgggactgct ctcgctccgg ctgccactct
121 cccgcgctct cctagctccc tgcgaagcag gatggccggg accgtgcgca ccgcgtgctt
181 ggtggtggcg atgctgctca gcttggactt cccgggacag gcgcagcccc cgccgccgcc
241 gccggacgcc acctgtcacc aagtccgctc cttcttccag agactgcagc ccggactcaa
301 gtgggtgcca gaaactcccg tgccaggatc agatttgcaa gtatgtctcc ctaagggccc
361 aacatgctgc tcaagaaaga tggaagaaaa ataccaacta acagcacgat tgaacatgga
421 acagctgctt cagtctgcaa gtatggagct caagttctta attattcaga atgctgcggt
481 tttccaagag gcctttgaaa ttgttgttcg ccatgccaag aactacacca atgccatgtt
541 caagaacaac tacccaagcc tgactccaca agcttttgag tttgtgggtg aatttttcac
601 agatgtgtct ctctacatct tgggttctga catcaatgta gatgacatgg tcaatgaatt
661 gtttgacagc ctgtttccag tcatctatac ccagctaatg aacccaggcc tgcctgattc
721 agccttggac atcaatgagt gcctccgagg agcaagacgt gacctgaaag tatttgggaa
781 tttccccaag cttattatga cccaggtttc caagtcactg caagtcacta ggatcttcct
841 tcaggctctg aatcttggaa ttgaagtgat caacacaact gatcacctga agttcagtaa
901 ggactgtggc cgaatgctca ccagaatgtg gtactgctct tactgccagg gactgatgat
961 ggttaaaccc tgtggcggtt actgcaatgt ggtcatgcaa ggctgtatgg caggtgtggt
1021 ggagattgac aagtactgga gagaatacat tctgtccctt gaagaacttg tgaatggcat
1081 gtacagaatc tatgacatgg agaacgtact gcttggtctc ttttcaacaa tccatgattc
1141 tatccagtat gtccagaaga atgcaggaaa gctgaccacc actattggca agttatgtgc
1201 ccattctcaa caacgccaat atagatctgc ttattatcct gaagatctct ttattgacaa
1261 gaaagtatta aaagttgctc atgtagaaca tgaagaaacc ttatccagcc gaagaaggga
1321 actaattcag aagttgaagt ctttcatcag cttctatagt gctttgcctg gctacatctg
1381 cagccatagc cctgtggcgg aaaacgacac cctttgctgg aatggacaag aactcgtgga
1441 gagatacagc caaaaggcag caaggaatgg aatgaaaaac cagttcaatc tccatgagct
1501 gaaaatgaag ggccctgagc cagtggtcag tcaaattatt gacaaactga agcacattaa
1561 ccagctcctg agaaccatgt ctatgcccaa aggtagagtt ctggataaaa acctggatga
1621 ggaagggttt gaaagtggag actgcggtga tgatgaagat gagtgcattg gaggctctgg
1681 tgatggaatg ataaaagtga agaatcagct ccgcttcctt gcagaactgg cctatgatct
1741 ggatgtggat gatgcgcctg gaaacagtca gcaggcaact ccgaaggaca acgagataag
1801 cacctttcac aacctcggga acgttcattc cccgctgaag cttctcacca gcatggccat
1861 ctcggtggtg tgcttcttct tcctggtgca ctgactgcct ggtgcccagc acatgtgctg
1921 ccctacagca ccctgtggtc ttcctcgata aagggaacca ctttcttatt tttttctatt
1981 tttttttttt tgttatcctg tatacctcct ccagccatga agtagaggac taaccatgtg
2041 ttatgttttc gaaaatcaaa tggtatcttt tggaggaaga tacattttag tggtagcata
2101 tagattgtcc ttttgcaaaa aaaaaaaccg
//