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Reviewed, UniProtKB/Swiss-Prot P51654 (GPC3_HUMAN)

Last modified December 15, 2009. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length580 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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-anchorGPI-anchor; Extracellular side By similarity.

Secreted glypican-3: Secretedextracellular 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – ?Glypican-3PRO_0000012309
Chain25 – ?Secreted glypican-3PRO_0000333844
Propeptide? – 580Removed in mature form PotentialPRO_0000012310

Amino acid modifications

Glycosylation1241N-linked (GlcNAc...) Potential
Glycosylation2411N-linked (GlcNAc...) Potential
Glycosylation4181N-linked (GlcNAc...) Potential
Glycosylation4951O-linked (Xyl...) (heparan sulfate) Potential
Glycosylation5091O-linked (Xyl...) (heparan sulfate) Potential

Natural variations

Natural variant2961W → R in SGBS. Ref.6
VAR_021385

Sequences

Sequence LengthMass (Da)Tools
P51654-1 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 19485B76D3CE15FC

FASTA58065,563
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.

Cross-references

Sequence databases

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 expand/collapse EMBL AC list , AC002420, AF003529, AL009174, Z99570 Genomic DNA. Translation: CAI43110.1.
AL009174 expand/collapse EMBL AC list , AC002420, AF003529, AL008712, Z99570 Genomic DNA. Translation: CAI42761.1.
Z99570 expand/collapse EMBL AC list , AC002420, AF003529, AL008712, AL009174 Genomic DNA. Translation: CAI42277.1.
AF003529 Genomic DNA. Translation: AAB87062.1.
IPIIPI00019907.
RefSeqNP_004475.1.
UniGeneHs.644108

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGP51654.

Proteomic databases

PRIDEP51654.

Genome annotation databases

EnsemblENST00000370818; ENSP00000359854; ENSG00000147257; Homo sapiens. [Genome view]
GeneID2719.
KEGGhsa:2719.
UCSCuc004exe.1. human.

Organism-specific databases

CTD2719.
GeneCardsGC0XM132497.
H-InvDBHIX0028373.
HGNCHGNC:4451. GPC3.
HPACAB017784.
HPA006316.
MIM300037. gene.
312870. phenotype.
Orphanet654. Nephroblastoma.
373. Simpson-Golabi-Behmel syndrome.
PharmGKBPA28832.
GenAtlasSearch...

Phylogenomic databases

HOVERGENP51654.
OMAVACFFFL.
OrthoDBEOG9VX4R6.

Enzyme and pathway databases

Pathway_Interaction_DBglypican_3pathway. Glypican 3 network.
glypicanpathway. Glypican pathway.

Gene expression databases

ArrayExpressP51654.
BgeeP51654.
CleanExHS_GPC3.
GenevestigatorP51654.
GermOnlineENSG00000147257. Homo sapiens.

Family and domain databases

InterProIPR001863. Glypican.
IPR015501. Glypican-3.
IPR019803. Glypican_CS.
[Graphical view]
PANTHERPTHR10822. Glypican. 1 hit.
PTHR10822:SF4. GPC3. 1 hit.
PfamPF01153. Glypican. 1 hit.
[Graphical view]
PROSITEPS01207. GLYPICAN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio10734.
SOURCESearch...

Entry information

Entry nameGPC3_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny 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.

Relevant documents

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents