Glypican 3
Glypican 3 | |||||||||||
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Identifiers | |||||||||||
Symbols | GPC3 ; DGSX; OCI-5; SDYS; SGB; SGBS; SGBS1 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 20944 | ||||||||||
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RNA expression pattern | |||||||||||
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Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
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]
References
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.
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