Glypican 3: Difference between revisions

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{{Infobox_gene}}
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'''Glypican-3''' is a [[protein]] that in humans is encoded by the ''GPC3'' [[gene]].<ref name="pmid8589713">{{cite journal |vauthors=Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D | title = Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome | journal = Nat Genet | volume = 12 | issue = 3 | pages = 241–7 |date=Mar 1996 | pmid = 8589713 | pmc =  | doi = 10.1038/ng0396-241 }}</ref><ref name="pmid9787072">{{cite journal |vauthors=Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G | title = 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 | journal = Genomics | volume = 53 | issue = 1 | pages = 1–11 |date=Dec 1998 | pmid = 9787072 | pmc =  | doi = 10.1006/geno.1998.5465 }}</ref><ref name="entrez_2719">{{cite web | title = Entrez Gene: GPC3 glypican 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2719| accessdate = }}</ref><ref name="pmid17258707">{{cite journal |vauthors=Jakubovic BD, Jothy S | title = Glypican-3: from the mutations of Simpson-Golabi-Behmel genetic syndrome to a tumor marker for hepatocellular carcinoma | journal = Exp. Mol. Pathol. | volume = 82 | issue = 2 | pages = 184–9 |date=April 2007 | pmid = 17258707 | doi = 10.1016/j.yexmp.2006.10.010 | url =  }}</ref> The [[protein]] encoded by this gene is a member of the [[glypican]] family.
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==Structure and function==
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Cell surface [[heparan sulfate]] [[proteoglycan]]s 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.<ref name="entrez_2719"/>
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==Disease linkage==
}}
Deletion mutations in this gene are associated with [[Simpson-Golabi-Behmel syndrome]].<ref name="pmid17549790">{{cite journal |vauthors=Davoodi J, Kelly J, Gendron NH, MacKenzie AE | title = The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26 | journal = Proteomics | volume = 7 | issue = 13 | pages = 2300–10 |date=June 2007 | pmid = 17549790 | doi = 10.1002/pmic.200600654 | url = }}</ref>


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==Diagnostic utility==
{{GNF_Protein_box
Glypican 3 [[immunostaining]] has utility for differentiating [[hepatocellular carcinoma]] (HCC) and dysplastic changes in [[cirrhosis|cirrhotic]] [[liver]]s; HCC stains with glypican 3, while liver with dysplastic changes and/or [[cirrhosis|cirrhotic changes]] does not.<ref>{{cite journal |vauthors=Anatelli F, Chuang ST, Yang XJ, Wang HL |title=Value of glypican 3 immunostaining in the diagnosis of hepatocellular carcinoma on needle biopsy |journal=Am J Clin Pathol. |volume=130 |issue= 2 |pages= 219–23–8 |year= 2008 |pmid= 18628090 |doi= 10.1309/WMB5PX57Y4P8QCTY }}</ref>
| image =
| image_source =
| PDB =  
| Name = Glypican 3
| HGNCid = 4451
| Symbol = GPC3
| AltSymbols =; DGSX; OCI-5; SDYS; SGB; SGBS; SGBS1
| OMIM = 300037
| ECnumber = 
| Homologene = 20944
| MGIid = 104903
| GeneAtlas_image1 = PBB_GE_GPC3_209220_at_tn.png
| Function = {{GNF_GO|id=GO:0048503 |text = GPI anchor binding}}
  | Component = {{GNF_GO|id=GO:0005578 |text = proteinaceous extracellular matrix}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0001658 |text = ureteric bud branching}} {{GNF_GO|id=GO:0008285 |text = negative regulation of cell proliferation}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0030513 |text = positive regulation of BMP signaling pathway}} {{GNF_GO|id=GO:0045926 |text = negative regulation of growth}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2719
    | Hs_Ensembl = ENSG00000147257
    | Hs_RefseqProtein = NP_004475
    | Hs_RefseqmRNA = NM_004484
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 132497439
    | Hs_GenLoc_end = 132947588
    | Hs_Uniprot = P51654
    | Mm_EntrezGene = 14734
    | Mm_Ensembl = ENSMUSG00000055653
    | Mm_RefseqmRNA = NM_016697
    | Mm_RefseqProtein = NP_057906
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 48517053
    | Mm_GenLoc_end = 48858548
    | Mm_Uniprot = Q3TWB2
  }}
}}
'''Glypican 3''', also known as '''GPC3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GPC3 glypican 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2719| accessdate = }}</ref>


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==See also==
{{PBB_Summary
* [[Glypican]]
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: GPC3 glypican 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2719| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sgbs  GeneReviews/NIH/NCBI/UW entry on Simpson-Golabi-Behmel Syndrome]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Li M, Squire JA, Weksberg R |title=Overgrowth syndromes and genomic imprinting: from mouse to man. |journal=Clin. Genet. |volume=53 |issue= 3 |pages= 165-70 |year= 1998 |pmid= 9630066 |doi=  }}
*{{cite journal  |vauthors=Li M, Squire JA, Weksberg R |title=Overgrowth syndromes and genomic imprinting: from mouse to man. |journal=Clin. Genet. |volume=53 |issue= 3 |pages= 165–70 |year= 1998 |pmid= 9630066 |doi=10.1111/j.1399-0004.1998.tb02668.x }}
*{{cite journal  | author=Filmus J |title=Glypicans in growth control and cancer. |journal=Glycobiology |volume=11 |issue= 3 |pages= 19R-23R |year= 2001 |pmid= 11320054 |doi=  }}
*{{cite journal  | author=Filmus J |title=Glypicans in growth control and cancer. |journal=Glycobiology |volume=11 |issue= 3 |pages= 19R–23R |year= 2001 |pmid= 11320054 |doi=10.1093/glycob/11.3.19R }}
*{{cite journal  | author=Filmus J, Shi W, Wong ZM, Wong MJ |title=Identification of a new membrane-bound heparan sulphate proteoglycan. |journal=Biochem. J. |volume=311 ( Pt 2) |issue=  |pages= 561-5 |year= 1995 |pmid= 7487896 |doi=  }}
*{{cite journal  |vauthors=Filmus J, Shi W, Wong ZM, Wong MJ |title=Identification of a new membrane-bound heparan sulphate proteoglycan |journal=Biochem. J. |volume=311 |issue=  Pt 2|pages= 561–5 |year= 1995 |pmid= 7487896 |doi= | pmc=1136036 }}
*{{cite journal  | author=Watanabe K, Yamada H, Yamaguchi Y |title=K-glypican: a novel GPI-anchored heparan sulfate proteoglycan that is highly expressed in developing brain and kidney. |journal=J. Cell Biol. |volume=130 |issue= 5 |pages= 1207-18 |year= 1995 |pmid= 7657705 |doi=  }}
*{{cite journal  |vauthors=Watanabe K, Yamada H, Yamaguchi Y |title=K-glypican: a novel GPI-anchored heparan sulfate proteoglycan that is highly expressed in developing brain and kidney |journal=J. Cell Biol. |volume=130 |issue= 5 |pages= 1207–18 |year= 1995 |pmid= 7657705 |doi=10.1083/jcb.130.5.1207  | pmc=2120559 }}
*{{cite journal | author=Xuan JY, Besner A, Ireland M, ''et al.'' |title=Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. |journal=Hum. Mol. Genet. |volume=3 |issue= 1 |pages= 133-7 |year= 1994 |pmid= 7909248 |doi=  }}
*{{cite journal   |vauthors=Xuan JY, Besner A, Ireland M, etal |title=Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27 |journal=Hum. Mol. Genet. |volume=3 |issue= 1 |pages= 133–7 |year= 1994 |pmid= 7909248 |doi=10.1093/hmg/3.1.133 }}
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8  }}
*{{cite journal  | author=Pilia G, Hughes-Benzie RM, MacKenzie A, ''et al.'' |title=Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. |journal=Nat. Genet. |volume=12 |issue= 3 |pages= 241-7 |year= 1996 |pmid= 8589713 |doi= 10.1038/ng0396-241 }}
*{{cite journal   |vauthors=Shen T, Sonoda G, Hamid J, etal |title=Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization |journal=Mamm. Genome |volume=8 |issue= 1 |pages= 72 |year= 1997 |pmid= 9021160 |doi=10.1007/s003359900357 }}
*{{cite journal | author=Shen T, Sonoda G, Hamid J, ''et al.'' |title=Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization. |journal=Mamm. Genome |volume=8 |issue= 1 |pages= 72 |year= 1997 |pmid= 9021160 |doi=  }}
*{{cite journal  |vauthors=Lage H, Dietel M |title=Cloning and characterization of human cDNAs encoding a protein with high homology to rat intestinal development protein OCI-5 |journal=Gene |volume=188 |issue= 2 |pages= 151–6 |year= 1997 |pmid= 9133586 |doi=10.1016/S0378-1119(96)00689-0 }}
*{{cite journal  | author=Lage H, Dietel M |title=Cloning and characterization of human cDNAs encoding a protein with high homology to rat intestinal development protein OCI-5. |journal=Gene |volume=188 |issue= 2 |pages= 151-6 |year= 1997 |pmid= 9133586 |doi=  }}
*{{cite journal   |vauthors=Huber R, Crisponi L, Mazzarella R, etal |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 |volume=45 |issue= 1 |pages= 48–58 |year= 1997 |pmid= 9339360 |doi= 10.1006/geno.1997.4916 }}
*{{cite journal | author=Huber R, Crisponi L, Mazzarella R, ''et al.'' |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 |volume=45 |issue= 1 |pages= 48-58 |year= 1997 |pmid= 9339360 |doi= 10.1006/geno.1997.4916 }}
*{{cite journal  |vauthors=Hsu HC, Cheng W, Lai PL |title=Cloning and expression of a developmentally regulated transcript MXR7 in hepatocellular carcinoma: biological significance and temporospatial distribution |journal=Cancer Res. |volume=57 |issue= 22 |pages= 5179–84 |year= 1997 |pmid= 9371521 |doi=  }}
*{{cite journal  | author=Hsu HC, Cheng W, Lai PL |title=Cloning and expression of a developmentally regulated transcript MXR7 in hepatocellular carcinoma: biological significance and temporospatial distribution. |journal=Cancer Res. |volume=57 |issue= 22 |pages= 5179-84 |year= 1997 |pmid= 9371521 |doi=  }}
*{{cite journal   |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
*{{cite journal   |vauthors=Pellegrini M, Pilia G, Pantano S, etal |title=Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome |journal=Dev. Dyn. |volume=213 |issue= 4 |pages= 431–9 |year= 1999 |pmid= 9853964 |doi= 10.1002/(SICI)1097-0177(199812)213:4<431::AID-AJA8>3.0.CO;2-7 }}
*{{cite journal  | author=Veugelers M, Vermeesch J, Watanabe K, ''et al.'' |title=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. |journal=Genomics |volume=53 |issue= 1 |pages= 1-11 |year= 1998 |pmid= 9787072 |doi= 10.1006/geno.1998.5465 }}
*{{cite journal   |vauthors=Huber R, Mazzarella R, Chen CN, etal |title=Glypican 3 and glypican 4 are juxtaposed in Xq26.1 |journal=Gene |volume=225 |issue= 1–2 |pages= 9–16 |year= 1999 |pmid= 9931407 |doi=10.1016/S0378-1119(98)00549-6 }}
*{{cite journal | author=Pellegrini M, Pilia G, Pantano S, ''et al.'' |title=Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. |journal=Dev. Dyn. |volume=213 |issue= 4 |pages= 431-9 |year= 1999 |pmid= 9853964 |doi= 10.1002/(SICI)1097-0177(199812)213:4<431::AID-AJA8>3.0.CO;2-7 }}
*{{cite journal  |vauthors=Xuan JY, Hughes-Benzie RM, MacKenzie AE |title=A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family |journal=J. Med. Genet. |volume=36 |issue= 1 |pages= 57–8 |year= 1999 |pmid= 9950367 |doi= 10.1136/jmg.36.1.57| pmc=1762951 }}
*{{cite journal | author=Huber R, Mazzarella R, Chen CN, ''et al.'' |title=Glypican 3 and glypican 4 are juxtaposed in Xq26.1. |journal=Gene |volume=225 |issue= 1-2 |pages= 9-16 |year= 1999 |pmid= 9931407 |doi=  }}
*{{cite journal   |vauthors=Veugelers M, Cat BD, Muyldermans SY, etal |title=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 |journal=Hum. Mol. Genet. |volume=9 |issue= 9 |pages= 1321–8 |year= 2000 |pmid= 10814714 |doi=10.1093/hmg/9.9.1321 }}
*{{cite journal  | author=Xuan JY, Hughes-Benzie RM, MacKenzie AE |title=A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. |journal=J. Med. Genet. |volume=36 |issue= 1 |pages= 57-8 |year= 1999 |pmid= 9950367 |doi=  }}
*{{cite journal   |vauthors=Khan S, Blackburn M, Mao DL, etal |title=Glypican-3 (GPC3) expression in human placenta: localization to the differentiated syncytiotrophoblast |journal=Histol. Histopathol. |volume=16 |issue= 1 |pages= 71–8 |year= 2001 |pmid= 11193214 |doi=  }}
*{{cite journal | author=Veugelers M, Cat BD, Muyldermans SY, ''et al.'' |title=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. |journal=Hum. Mol. Genet. |volume=9 |issue= 9 |pages= 1321-8 |year= 2000 |pmid= 10814714 |doi=  }}
*{{cite journal | author=Khan S, Blackburn M, Mao DL, ''et al.'' |title=Glypican-3 (GPC3) expression in human placenta: localization to the differentiated syncytiotrophoblast. |journal=Histol. Histopathol. |volume=16 |issue= 1 |pages= 71-8 |year= 2001 |pmid= 11193214 |doi=  }}
}}
}}
{{refend}}
{{refend}}


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Revision as of 11:36, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

Glypican-3 is a protein that in humans is encoded by the GPC3 gene.[1][2][3][4] 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.[3]

Disease linkage

Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome.[5]

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.[6]

See also

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: GPC3 glypican 3".
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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

Further reading


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