Reviewed, UniProtKB/Swiss-Prot P51654 (GPC3_HUMAN)

Names and origin

Protein names

Recommended name:
    Glypican-3
Alternative name(s):
    Intestinal protein OCI-5
    GTR2-2
    MXR7
Cleaved into the following chain:
    1- Recommended name:
            Secreted glypican-3

Gene names

Name:	GPC3
Synonyms:	OCI5

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	580 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Cell surface proteoglycan that bears heparan sulfate. May be involved in the suppression/modulation of growth in the predominantly mesodermal tissues and organs. May play a role in the modulation of IGF2 interactions with its receptor and thereby modulate its function. May regulate growth and tumor predisposition.
Subcellular location	Cell membrane; Lipid-anchor › GPI-anchor; Extracellular side By similarity. Secreted glypican-3: Secreted › extracellular space By similarity.
Tissue specificity	Highly expressed in lung, liver and kidney.
Involvement in disease	Defects in GPC3 are the cause of Simpson-Golabi-Behmel syndrome (SGBS) [MIM:312870]; also known as Simpson dysmorphia syndrome (SDYS). SGBS is a condition characterized by pre- and postnatal overgrowth (gigantism) with visceral and skeletal anomalies. Ref.2 Ref.6
Sequence similarities	Belongs to the glypican family.

Ontologies

Keywords
Cellular component	Cell membrane Membrane Secreted
Disease	Disease mutation
Domain	Signal
PTM	GPI-anchor Glycoprotein Heparan sulfate Lipoprotein Proteoglycan
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	anchored to membrane Inferred from electronic annotation. Source: UniProtKB-KW extracellular space Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Traceable author statement. Source: ProtInc proteinaceous extracellular matrix Inferred from electronic annotation. Source: InterPro
Molecular function	heparan sulfate proteoglycan binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24	Potential
	Chain	25 – ?		Glypican-3		PRO_0000012309
	Chain	25 – ?		Secreted glypican-3		PRO_0000333844
	Propeptide	? – 580		Removed in mature form Potential		PRO_0000012310
Amino acid modifications
	Glycosylation	124	1	N-linked (GlcNAc...) Potential
	Glycosylation	241	1	N-linked (GlcNAc...) Potential
	Glycosylation	418	1	N-linked (GlcNAc...) Potential
	Glycosylation	495	1	O-linked (Xyl...) (heparan sulfate) Potential
	Glycosylation	509	1	O-linked (Xyl...) (heparan sulfate) Potential
Natural variations
	Natural variant	296	1	W → R in SGBS. Ref.6		VAR_021385

Sequences

	Sequence		Length	Mass (Da)
	P51654-1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 19485B76D3CE15FC	FASTA	580	65,563
	10 20 30 40 50 60 MAGTVRTACL VVAMLLSLDF PGQAQPPPPP PDATCHQVRS FFQRLQPGLK WVPETPVPGS 70 80 90 100 110 120 DLQVCLPKGP TCCSRKMEEK YQLTARLNME QLLQSASMEL KFLIIQNAAV FQEAFEIVVR 130 140 150 160 170 180 HAKNYTNAMF KNNYPSLTPQ AFEFVGEFFT DVSLYILGSD INVDDMVNEL FDSLFPVIYT 190 200 210 220 230 240 QLMNPGLPDS ALDINECLRG ARRDLKVFGN FPKLIMTQVS KSLQVTRIFL QALNLGIEVI 250 260 270 280 290 300 NTTDHLKFSK DCGRMLTRMW YCSYCQGLMM VKPCGGYCNV VMQGCMAGVV EIDKYWREYI 310 320 330 340 350 360 LSLEELVNGM YRIYDMENVL LGLFSTIHDS IQYVQKNAGK LTTTIGKLCA HSQQRQYRSA 370 380 390 400 410 420 YYPEDLFIDK KVLKVAHVEH EETLSSRRRE LIQKLKSFIS FYSALPGYIC SHSPVAENDT 430 440 450 460 470 480 LCWNGQELVE RYSQKAARNG MKNQFNLHEL KMKGPEPVVS QIIDKLKHIN QLLRTMSMPK 490 500 510 520 530 540 GRVLDKNLDE EGFESGDCGD DEDECIGGSG DGMIKVKNQL RFLAELAYDL DVDDAPGNSQ 550 560 570 580 QATPKDNEIS TFHNLGNVHS PLKLLTSMAI SVVCFFFLVH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization." Shen T., Sonoda G., Hamid J., Li M., Filmus J., Buick R.N., Testa J.R. Mamm. Genome 8:72-72(1997) [PubMed: 9021160] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome." Pilia G., Hughes-Benzie R.M., Mackenzie A., Baybayan P., Chen E.Y., Huber R., Neri G., Cao A., Forabosco A., Schlessinger D. Nat. Genet. 12:241-247(1996) [PubMed: 8589713] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], DISEASE. Tissue: Embryo.
[3]	"Cloning and characterization of human cDNAs encoding a protein with high homology to rat intestinal development protein OCI-5." Lage H., Dietel M. Gene 188:151-156(1997) [PubMed: 9133586] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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." Huber R., Crisponi L., Mazzarella R., Chen C.N., Su Y., Shizuya H., Chen E.Y., Cao A., Pilia G. Genomics 45:48-58(1997) [PubMed: 9339360] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-58.
[6]	"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." Veugelers M., Cat B.D., Muyldermans S.Y., Reekmans G., Delande N., Frints S., Legius E., Fryns J.-P., Schrander-Stumpel C., Weidle B., Magdalena N., David G. Hum. Mol. Genet. 9:1321-1328(2000) [PubMed: 10814714] [Abstract] Cited for: VARIANT SGBS ARG-296.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	U50410 mRNA. Translation: AAA93471.1. L47124 Genomic DNA. Translation: AAA98131.1. L47125 mRNA. Translation: AAA98132.1. L47176 mRNA. Translation: AAB58806.1. Z37987 mRNA. Translation: CAA86069.1. AL008712 , AC002420, AF003529, AL009174, Z99570 Genomic DNA. Translation: CAI43110.1. AL009174 , AC002420, AF003529, AL008712, Z99570 Genomic DNA. Translation: CAI42761.1. Z99570 , AC002420, AF003529, AL008712, AL009174 Genomic DNA. Translation: CAI42277.1. AF003529 Genomic DNA. Translation: AAB87062.1.
IPI	IPI00019907.
RefSeq	NP_004475.1.
UniGene	Hs.644108
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	P51654.
Proteomic databases
PRIDE	P51654.
Genome annotation databases
Ensembl	ENST00000370818; ENSP00000359854; ENSG00000147257; Homo sapiens. [Genome view]
GeneID	2719.
KEGG	hsa:2719.
UCSC	uc004exe.1. human.
Organism-specific databases
CTD	2719.
GeneCards	GC0XM132497.
H-InvDB	HIX0028373.
HGNC	HGNC:4451. GPC3.
HPA	CAB017784. HPA006316.
MIM	300037. gene. 312870. phenotype.
Orphanet	654. Nephroblastoma. 373. Simpson-Golabi-Behmel syndrome.
PharmGKB	PA28832.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P51654.
OMA	VACFFFL.
OrthoDB	EOG9VX4R6.
Enzyme and pathway databases
Pathway_Interaction_DB	glypican_3pathway. Glypican 3 network. glypicanpathway. Glypican pathway.
Gene expression databases
ArrayExpress	P51654.
Bgee	P51654.
CleanEx	HS_GPC3.
Genevestigator	P51654.
GermOnline	ENSG00000147257. Homo sapiens.
Family and domain databases
InterPro	IPR001863. Glypican. IPR015501. Glypican-3. IPR019803. Glypican_CS. [Graphical view]
PANTHER	PTHR10822. Glypican. 1 hit. PTHR10822:SF4. GPC3. 1 hit.
Pfam	PF01153. Glypican. 1 hit. [Graphical view]
PROSITE	PS01207. GLYPICAN. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	10734.
SOURCE	Search...

Entry information

Entry name

GPC3_HUMAN

Accession

Primary (citable) accession number: P51654

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	December 15, 2009
This is version 90 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.