Glypican 3

From Wikipedia, the free encyclopedia

Glypican 3

Identifiers

GPC3; DGSX; OCI-5; SDYS; SGB; SGBS; SGBS1

External IDs

OMIM: 300037 MGI: 104903 HomoloGene: 20944

Gene ontology
Molecular Function:	• GPI anchor binding
Cellular Component:	• proteinaceous extracellular matrix • integral to plasma membrane • membrane
Biological Process:	• ureteric bud branching • negative regulation of cell proliferation • organ morphogenesis • positive regulation of BMP signaling pathway • negative regulation of growth

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004484 (mRNA)
NP_004475 (protein)

NM_016697 (mRNA)
NP_057906 (protein)

Location

Chr X: 132.5 - 132.95 Mb

Chr X: 48.52 - 48.86 Mb

Pubmed search

[1]

[2]

Glypican 3, also known as GPC3, is a human gene.^[1]

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. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome.^[1]

[edit] References

^ ^a ^b Entrez Gene: GPC3 glypican 3.

[edit] Further reading

Li M, Squire JA, Weksberg R (1998). "Overgrowth syndromes and genomic imprinting: from mouse to man.". Clin. Genet. 53 (3): 165–70. PMID 9630066.
Filmus J (2001). "Glypicans in growth control and cancer.". Glycobiology 11 (3): 19R–23R. PMID 11320054.
Filmus J, Shi W, Wong ZM, Wong MJ (1995). "Identification of a new membrane-bound heparan sulphate proteoglycan.". Biochem. J. 311 ( Pt 2): 561–5. PMID 7487896.
Watanabe K, Yamada H, Yamaguchi Y (1995). "K-glypican: a novel GPI-anchored heparan sulfate proteoglycan that is highly expressed in developing brain and kidney.". J. Cell Biol. 130 (5): 1207–18. PMID 7657705.
Xuan JY, Besner A, Ireland M, et al. (1994). "Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.". Hum. Mol. Genet. 3 (1): 133–7. PMID 7909248.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
Pilia G, Hughes-Benzie RM, MacKenzie A, et al. (1996). "Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.". Nat. Genet. 12 (3): 241–7. doi:10.1038/ng0396-241. PMID 8589713.
Shen T, Sonoda G, Hamid J, et al. (1997). "Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization.". Mamm. Genome 8 (1): 72. PMID 9021160.
Lage H, Dietel M (1997). "Cloning and characterization of human cDNAs encoding a protein with high homology to rat intestinal development protein OCI-5.". Gene 188 (2): 151–6. PMID 9133586.
Huber R, Crisponi L, Mazzarella R, et al. (1997). "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.". Genomics 45 (1): 48–58. doi:10.1006/geno.1997.4916. PMID 9339360.
Hsu HC, Cheng W, Lai PL (1997). "Cloning and expression of a developmentally regulated transcript MXR7 in hepatocellular carcinoma: biological significance and temporospatial distribution.". Cancer Res. 57 (22): 5179–84. PMID 9371521.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
Veugelers M, Vermeesch J, Watanabe K, et al. (1998). "GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.". Genomics 53 (1): 1–11. doi:10.1006/geno.1998.5465. PMID 9787072.
Pellegrini M, Pilia G, Pantano S, et al. (1999). "Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome.". Dev. Dyn. 213 (4): 431–9. doi:10.1002/(SICI)1097-0177(199812)213:4<431::AID-AJA8>3.0.CO;2-7. PMID 9853964.
Huber R, Mazzarella R, Chen CN, et al. (1999). "Glypican 3 and glypican 4 are juxtaposed in Xq26.1.". Gene 225 (1-2): 9–16. PMID 9931407.
Xuan JY, Hughes-Benzie RM, MacKenzie AE (1999). "A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.". J. Med. Genet. 36 (1): 57–8. PMID 9950367.
Veugelers M, Cat BD, Muyldermans SY, et al. (2000). "Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.". Hum. Mol. Genet. 9 (9): 1321–8. PMID 10814714.
Khan S, Blackburn M, Mao DL, et al. (2001). "Glypican-3 (GPC3) expression in human placenta: localization to the differentiated syncytiotrophoblast.". Histol. Histopathol. 16 (1): 71–8. PMID 11193214.