Glypican 3

GPC3
Identifiers
Aliases	GPC3, DGSX, GTR2-2, MXR7, OCI-5, SDYS, SGB, SGBS, SGBS1, Glypican 3
External IDs	MGI: 104903 HomoloGene: 20944 GeneCards: GPC3
Gene location (Human)
Chr.	X chromosome (human)[1]
End	133,985,895 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	52,613,950 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• peptidase inhibitor activity; • protein binding; • peptidyl-dipeptidase inhibitor activity; • heparan sulfate proteoglycan binding;
Cellular component	• membrane; • anchored component of plasma membrane; • plasma membrane; • integral component of plasma membrane; • extracellular region; • lysosomal lumen; • Golgi lumen; • anchored component of membrane; • lysosome; • extracellular space; • endoplasmic reticulum lumen; • intrinsic component of plasma membrane; • collagen-containing extracellular matrix;
Biological process	• body morphogenesis; • positive regulation of glucose import; • bone mineralization; • negative regulation of peptidase activity; • negative regulation of growth; • negative regulation of smoothened signaling pathway; • positive regulation of protein catabolic process; • positive regulation of smoothened signaling pathway; • cell proliferation involved in metanephros development; • lung development; • kidney development; • osteoclast differentiation; • anatomical structure morphogenesis; • mesenchymal cell proliferation involved in ureteric bud development; • mesonephric duct morphogenesis; • coronary vasculature development; • retinoid metabolic process; • cell proliferation involved in kidney development; • positive regulation of endocytosis; • branching involved in ureteric bud morphogenesis; • glycosaminoglycan catabolic process; • glycosaminoglycan biosynthetic process; • negative regulation of epithelial cell proliferation; • positive regulation of BMP signaling pathway; • animal organ morphogenesis; • regulation of growth; • positive regulation of Wnt signaling pathway, planar cell polarity pathway; • anterior/posterior axis specification; • negative regulation of canonical Wnt signaling pathway; • negative regulation of cell proliferation; • embryonic hindlimb morphogenesis; • post-translational protein modification; • cellular protein metabolic process; • regulation of signal transduction; • response to bacterium;
	Sources:Amigo / QuickGO
Orthologs
	2719
	14734
	ENSG00000147257
	ENSMUSG00000055653
	P51654
	Q8CFZ4
	NM_004484; NM_001164617; NM_001164618; NM_001164619
	NM_016697
	NP_001158089; NP_001158090; NP_001158091; NP_004475; NP_004475.1
	NP_057906
	Wikidata
View/Edit Human	View/Edit Mouse

Glypican-3 is a protein that in humans is encoded by the GPC3 gene.^[5]^[6]^[7]^[8] The protein encoded by this gene is a member of the glypican family.

Structure and function

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.^[7]

Disease linkage

Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome.^[9]

Diagnostic utility

Glypican 3 immunostaining has utility for differentiating hepatocellular carcinoma (HCC) and dysplastic changes in cirrhotic livers; HCC stains with glypican 3, while liver with dysplastic changes and/or cirrhotic changes does not.^[10]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000147257 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000055653 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D (Mar 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.
↑ Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G (Dec 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.
1 2 "Entrez Gene: GPC3 glypican 3".
↑ Jakubovic BD, Jothy S (April 2007). "Glypican-3: from the mutations of Simpson-Golabi-Behmel genetic syndrome to a tumor marker for hepatocellular carcinoma". Exp. Mol. Pathol. 82 (2): 184–9. doi:10.1016/j.yexmp.2006.10.010. PMID 17258707.
↑ Davoodi J, Kelly J, Gendron NH, MacKenzie AE (June 2007). "The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26". Proteomics. 7 (13): 2300–10. doi:10.1002/pmic.200600654. PMID 17549790.
↑ Anatelli F, Chuang ST, Yang XJ, Wang HL (2008). "Value of glypican 3 immunostaining in the diagnosis of hepatocellular carcinoma on needle biopsy". Am J Clin Pathol. 130 (2): 219–23–8. doi:10.1309/WMB5PX57Y4P8QCTY. PMID 18628090.

External links

GeneReviews/NIH/NCBI/UW entry on Simpson-Golabi-Behmel Syndrome

Li M, Squire JA, Weksberg R (1998). "Overgrowth syndromes and genomic imprinting: from mouse to man". Clin. Genet. 53 (3): 165–70. doi:10.1111/j.1399-0004.1998.tb02668.x. PMID 9630066.
Filmus J (2001). "Glypicans in growth control and cancer". Glycobiology. 11 (3): 19R–23R. doi:10.1093/glycob/11.3.19R. 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. PMC 1136036. 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. doi:10.1083/jcb.130.5.1207. PMC 2120559. 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. doi:10.1093/hmg/3.1.133. 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. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
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. doi:10.1007/s003359900357. 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. doi:10.1016/S0378-1119(96)00689-0. 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. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
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. doi:10.1016/S0378-1119(98)00549-6. 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. doi:10.1136/jmg.36.1.57 (inactive 2018-09-05). PMC 1762951. 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. doi:10.1093/hmg/9.9.1321. 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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000147257 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000055653 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[pmid8589713-5] Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D (Mar 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.

[pmid9787072-6] Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G (Dec 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.

[entrez_2719-7] 1 2 "Entrez Gene: GPC3 glypican 3".

[pmid17258707-8] Jakubovic BD, Jothy S (April 2007). "Glypican-3: from the mutations of Simpson-Golabi-Behmel genetic syndrome to a tumor marker for hepatocellular carcinoma". Exp. Mol. Pathol. 82 (2): 184–9. doi:10.1016/j.yexmp.2006.10.010. PMID 17258707.

[pmid17549790-9] Davoodi J, Kelly J, Gendron NH, MacKenzie AE (June 2007). "The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26". Proteomics. 7 (13): 2300–10. doi:10.1002/pmic.200600654. PMID 17549790.

[10] Anatelli F, Chuang ST, Yang XJ, Wang HL (2008). "Value of glypican 3 immunostaining in the diagnosis of hepatocellular carcinoma on needle biopsy". Am J Clin Pathol. 130 (2): 219–23–8. doi:10.1309/WMB5PX57Y4P8QCTY. PMID 18628090.