P51654 (GPC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 120.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Glypican-3 Alternative name(s): GTR2-2 Intestinal protein OCI-5 MXR7 Cleaved into the following chain: | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference 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. Inhibits the dipeptidyl peptidase activity of DPP4. 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. Ref.8 |
| Subunit structure | Interacts with DPP4. Ref.8 |
| 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 | Simpson-Golabi-Behmel syndrome 1 (SGBS1) [MIM:312870]: A condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding jaw, broad nasal bridge and cleft palate. Cardiac defects are frequent. |
| Sequence similarities | Belongs to the glypican family. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P51654-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P51654-2) The sequence of this isoform differs from the canonical sequence as follows: 59-112: Missing. |
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 | |||||||||
| Alternative sequence | 59 – 112 | 54 | Missing in isoform 2. | VSP_046117 | |||||
| Natural variant | 296 | 1 | W → R in SGBS1. Ref.10 | VAR_021385 | |||||
| Natural variant | 429 | 1 | V → M. Ref.4 Corresponds to variant rs413112608 [ dbSNP | Ensembl ]. | VAR_069139 | |||||
Sequences
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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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [4] | "Expression of the Glypican-3 protein in hepatoma cells." Grozdanov P.N., Yovchev M.I., Dabeva M.D. Submitted (JAN-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT MET-429. |
| [5] | "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. Bentley D.R.Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-58. |
| [8] | "The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26." Davoodi J., Kelly J., Gendron N.H., MacKenzie A.E. Proteomics 7:2300-2310(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH DPP4. |
| [9] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [10] | "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] [Europe PMC] [Abstract] Cited for: VARIANT SGBS1 ARG-296. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. DQ349136 mRNA. Translation: ABC72125.1. AL008712 Z99570 Genomic DNA. Translation: CAI43110.1.AL009174 Z99570 Genomic DNA. Translation: CAI42761.1.Z99570 AL009174 Genomic DNA. Translation: CAI42277.1.AL034401 Genomic DNA. No translation available. AL662851 Genomic DNA. No translation available. Z97196 Genomic DNA. No translation available. CH471107 Genomic DNA. Translation: EAX11771.1. AF003529 Genomic DNA. Translation: AAB87062.1. |
| IPI | IPI00019907. IPI00646987. |
| RefSeq | NP_001158091.1. NM_001164619.1. NP_004475.1. NM_004484.3. |
| UniGene | Hs.644108. |
3D structure databases | |
| ProteinModelPortal | P51654. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P51654. 1 interaction. |
| STRING | 9606.ENSP00000359854. |
PTM databases | |
| PhosphoSite | P51654. |
Polymorphism databases | |
| DMDM | 1708022. |
Proteomic databases | |
| PaxDb | P51654. |
| PRIDE | P51654. |
Protocols and materials databases | |
| DNASU | 2719. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000370818; ENSP00000359854; ENSG00000147257. ENST00000543339; ENSP00000444222; ENSG00000147257. |
| GeneID | 2719. |
| KEGG | hsa:2719. |
| UCSC | uc004exe.2. human. |
Organism-specific databases | |
| CTD | 2719. |
| GeneCards | GC0XM132669. |
| HGNC | HGNC:4451. GPC3. |
| HPA | CAB017784. HPA006316. |
| MIM | 300037. gene. 312870. phenotype. |
| neXtProt | NX_P51654. |
| Orphanet | 654. Nephroblastoma. 373. Simpson-Golabi-Behmel syndrome. |
| PharmGKB | PA28832. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG281821. |
| HOVERGEN | HBG005896. |
| KO | K08109. |
| OrthoDB | EOG44J2HP. |
| PhylomeDB | P51654. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | glypican_3pathway. Glypican 3 network. glypicanpathway. Glypican pathway. |
| Reactome | REACT_111217. Metabolism. REACT_116125. Disease. |
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. PTHR10822. 1 hit. PTHR10822:SF4. PTHR10822:SF4. 1 hit. |
| Pfam | PF01153. Glypican. 1 hit. [Graphical view] |
| PROSITE | PS01207. GLYPICAN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | GPC3. human. |
| GenomeRNAi | 2719. |
| NextBio | 10734. |
| SOURCE | Search... |
Entry information
| Entry name | GPC3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P51654 Secondary accession number(s): G3V1R0, Q2L882 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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. | ||||||||
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 |

Clusters with
