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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 co... See more...
Aliases for GPC1 Gene
Aliases for GPC1 Gene
External Ids for GPC1 Gene
- HGNC: 4449
- NCBI Entrez Gene: 2817
- Ensembl: ENSG00000063660
- OMIM®: 600395
- UniProtKB/Swiss-Prot: P35052
Previous GeneCards Identifiers for GPC1 Gene
- GC02M240071
- GC02M240913
- GC02P241394
- GC02P241695
- GC02P241095
- GC02P241023
- GC02P233131
- GC02P241378
Summaries for GPC1 Gene
-
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for GPC1 Gene
GPC1 (Glypican 1) is a Protein Coding gene. Diseases associated with GPC1 include Biliary Atresia, Extrahepatic and Omodysplasia. Among its related pathways are Signaling by GPCR and Diseases of glycosylation. Gene Ontology (GO) annotations related to this gene include copper ion binding and fibroblast growth factor binding. An important paralog of this gene is GPC6.
UniProtKB/Swiss-Prot Summary for GPC1 Gene
-
Cell surface proteoglycan that bears heparan sulfate. Binds, via the heparan sulfate side chains, alpha-4 (V) collagen and participates in Schwann cell myelination (By similarity). May act as a catalyst in increasing the rate of conversion of prion protein PRPN(C) to PRNP(Sc) via associating (via the heparan sulfate side chains) with both forms of PRPN, targeting them to lipid rafts and facilitating their interaction. Required for proper skeletal muscle differentiation by sequestering FGF2 in lipid rafts preventing its binding to receptors (FGFRs) and inhibiting the FGF-mediated signaling.
Additional gene information for GPC1 Gene
- HGNC (4449)
- NCBI Entrez Gene (2817)
- Ensembl (ENSG00000063660)
- OMIM® (600395)
- UniProtKB/Swiss-Prot (P35052)
- Open Targets Platform(ENSG00000063660)
- Monarch Initiative
- Search for GPC1 at DataMed
- Search for GPC1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPC1 Gene
Genomics for GPC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GPC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GPC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPC1
Genomic Locations for GPC1 Gene
Latest Assembly
- chr2:240,435,663-240,468,076
- (GRCh38/hg38)
- Size:
- 32,414 bases
- Orientation:
- Plus strand
Previous Assembly
- chr2:241,375,080-241,407,493
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 32,414 bases
- Orientation:
- Plus strand
- chr2:241,375,088-241,407,493
- (GRCh37/hg19 by Ensembl)
- Size:
- 32,406 bases
- Orientation:
- Plus strand
Genomic View for GPC1 Gene
Genes around GPC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q37.3 by HGNC
- 2q37.3 by Entrez Gene
- 2q37.3 by Ensembl
GPC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GPC1 Gene
Proteins for GPC1 Gene
-
Protein details for GPC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35052-GPC1_HUMAN
- Recommended name:
- Glypican-1
- Protein Accession:
- P35052
- B3KTD1
- Q53QM4
Protein attributes for GPC1 Gene
- Size:
- 558 amino acids
- Molecular mass:
- 61680 Da
- Quaternary structure:
- No Data Available
Three dimensional structures from OCA and Proteopedia for GPC1 Gene
Protein Expression for GPC1 Gene
Post-translational modifications for GPC1 Gene
- S-nitrosylated in a Cu(2+)-dependent manner. Nitric acid (NO) is released from the nitrosylated cysteines by ascorbate or by some other reducing agent, in a Cu(2+) or Zn(2+) dependent manner. This free nitric oxide is then capable of cleaving the heparan sulfate side chains.
- N- and O-glycosylated. N-glycosylation is mainly of the complex type containing sialic acid. O-glycosylated with heparan sulfate. The heparan sulfate chains can be cleaved either by the action of heparanase or, degraded by a deaminative process that uses nitric oxide (NO) released from the S-nitrosylated cysteines. This process is triggered by ascorbate, or by some other reducing agent, in a Cu(2+)- or Zn(2+) dependent manner. Cu(2+) ions are provided by ceruloproteins such as APP, PRNP or CP which associate with GCP1 in intracellular compartments or lipid rafts.
- This cell-associated glypican is further processed to give rise to a medium-released species.
-
Glycosylation at Asn79, Asn116, Ser486, Ser488, Ser490, Thr512, and Thr515
- NX_P35052 (NX_P35052-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- GPC1_HUMAN (1279)
Other Protein References for GPC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences GPC1 / Glypican Antibody (LS-B10598) and GPC1 / Glypican Antibody (LS-B15927)
- HUABIO GPC1 Antibody (R1512-15)
-
Custom Antibody ServicesOriGene Antibodies for GPC1
- Novus Biologicals Antibodies for GPC1
-
Abcam antibodies for GPC1
- Invitrogen Antibodies for GPC1 (AFLGC-GPC1)
-
Boster Bio Antibodies for GPC1
-
Custom Antibody ServicesProSci Antibodies for GPC1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GPC1
Protein products for research
- G Biosciences Human Glypican-1/GPC1, Lyophilized
-
OriGene Purified Proteins for GPC1
- Search Origene for MassSpec and Protein Over-expression Lysates for GPC1
- Origene Custom Protein Services for GPC1
-
ProSci Proteins for GPC1
-
Abcam proteins for GPC1
Assay products for research
- G Biosciences Immunotag™ Human GPC1 (Glypican-1) ELISA and Immunotag™ Glypican-1 ELISA Kit
- RayBiotech Human Glypican 1 ELISA
- Novus Biologicals ELISA Kits for GPC1
No data available for DME Specific Peptides for GPC1 Gene
Domains & Families for GPC1 Gene
Gene Families for GPC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for GPC1 Gene
- InterPro:
- Blocks:
-
- Glypican
- ProtoNet:
Suggested Antigen Peptide Sequences for GPC1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ39319 fis, clone OCBBF2014576, highly similar to GLYPICAN-1 (B3KTD1_HUMAN)
- Glypican-1 (GPC1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P35052- Family:
-
- Belongs to the glypican family.
Function for GPC1 Gene
Molecular function for GPC1 Gene
- UniProtKB/Swiss-Prot Function:
- Cell surface proteoglycan that bears heparan sulfate. Binds, via the heparan sulfate side chains, alpha-4 (V) collagen and participates in Schwann cell myelination (By similarity). May act as a catalyst in increasing the rate of conversion of prion protein PRPN(C) to PRNP(Sc) via associating (via the heparan sulfate side chains) with both forms of PRPN, targeting them to lipid rafts and facilitating their interaction. Required for proper skeletal muscle differentiation by sequestering FGF2 in lipid rafts preventing its binding to receptors (FGFRs) and inhibiting the FGF-mediated signaling.
- GENATLAS Biochemistry:
- glypican 1,62kDa,integral membrane (heparan sulfate) proteoglycan,potentially,involved in cell adhesion,cell growth histogenesis of nervous central system,receptor of SLIT1 and SLIT3
Phenotypes From GWAS Catalog for GPC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005507 | copper ion binding | IDA | 12732622 |
| GO:0017134 | fibroblast growth factor binding | ISS | -- |
| GO:0043236 | laminin binding | IEA,ISS | -- |
Phenotypes for GPC1 Gene
- MGI mutant phenotypes for GPC1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GPC1:
-
- Increased gamma-H2AX phosphorylation
- Increased vaccinia virus (VACV) infection
- Decreased viability
- no effect
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased vaccinia virus (VACV) infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- FOXO1 nuclear localization
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
Animal Models for GPC1 Gene
- MGI Knock Outs for GPC1:
-
- Gpc1 Gpc1<tm1.1Alan>
Animal Models for research
-
Taconic Biosciences Mouse Models for GPC1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GPC1 - Starting at $85 >
- * GPC1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPC1
miRNA for GPC1 Gene
- miRTarBase miRNAs that target GPC1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPC1
- Browse OriGene Inhibitory RNA Products For GPC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPC1
Clone products for research
- Applied Biological Materials (abm): Clones for GPC1 - Starting at $45 >
- * GPC1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GPC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPC1
Cell Lines for research
-
Horizon Cell Lines for GPC1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPC1 Gene
Localization for GPC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GPC1 Gene
- Cell membrane. Lipid-anchor, GPI-anchor. Extracellular side. Endosome. Note=S-nitrosylated form recycled in endosomes. Localizes to CAV1-containing vesicles close to the cell surface. Cleavage of heparan sulfate side chains takes place mainly in late endosomes. Associates with both forms of PRNP in lipid rafts. Colocalizes with APP in perinuclear compartments and with CP in intracellular compartments. Associates with fibrillar APP amyloid-beta peptides in lipid rafts in Alzheimer disease brains.
- [Secreted glypican-1]: Secreted, extracellular space.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endosome | 5 |
| nucleus | 4 |
| cytosol | 4 |
| lysosome | 4 |
| golgi apparatus | 4 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
- Plasma membrane (3)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA,HDA | 27068509 |
| GO:0005615 | extracellular space | IEA,TAS | 2148568 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005796 | Golgi lumen | TAS | -- |
Pathways & Interactions for GPC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chondroitin sulfate/dermatan sulfate metabolism |
.01
|
|
| 2 | Signaling by Robo receptor | ||
| 3 | Glycosaminoglycan metabolism | ||
| 4 | Metabolism of fat-soluble vitamins | ||
| 5 | Developmental Biology |
.51
|
|
Pathways by source for GPC1 Gene
2 BioSystems pathways for GPC1 Gene
2 KEGG pathways for GPC1 Gene
2 R&D Systems pathways for GPC1 Gene
Interacting Proteins for GPC1 Gene
GPS-Prot Interaction Network for GPC1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001523 | retinoid metabolic process | TAS | -- |
| GO:0006024 | glycosaminoglycan biosynthetic process | TAS | -- |
| GO:0006027 | glycosaminoglycan catabolic process | TAS | -- |
| GO:0007411 | axon guidance | TAS | -- |
| GO:0009966 | regulation of signal transduction | IEA | -- |
Drugs & Compounds for GPC1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Triethylenetetramine | Approved, Investigational | Pharma | Transporter, substrate | 0 |
Transcripts for GPC1 Gene
mRNA/cDNA for GPC1 Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264039 3719 nts (view in UCSC)
- ENST00000420138 1835 nts (view in UCSC)
- ENST00000425056 1085 nts (view in UCSC)
- ENST00000426280 636 nts (view in UCSC)
- ENST00000427506 573 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GPC1 - Starting at $85 >
- * GPC1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPC1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPC1
- Browse OriGene Inhibitory RNA Products For GPC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPC1
Clone products for research
- Applied Biological Materials (abm): Clones for GPC1 - Starting at $45 >
- * GPC1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GPC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPC1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||
| SP8: | - |
Relevant External Links for GPC1 Gene
- GeneLoc Exon Structure for
- GPC1
Expression for GPC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Cartilage (Muscoskeletal System)
- Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
- Nucleus Pulposus
-
Tooth (Integumentary System)
- Inner Enamel Epithelial Cells Dental Enamel
- Ameloblasts Dental Enamel
- Neural Tube (Nervous System)
- Bone (Muscoskeletal System)
-
Epithelial Cells
- Inner Enamel Epithelial Cells Dental Enamel
- Primitive Streak (Early Embryonic Tissues)
- Kidney (Urinary System)
This gene is overexpressed in Amniocyte (11.4) and Testis (9.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPC1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPC1
SOURCE GeneReport for Unigene cluster for GPC1 Gene:
Hs.328232Evidence on tissue expression from TISSUES for GPC1 Gene
- Nervous system(4.9)
- Lung(4.5)
- Skin(3)
- Muscle(2.9)
- Heart(2.9)
- Liver(2.3)
- Intestine(2.3)
- Kidney(2.3)
- Eye(2.2)
- Pancreas(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GPC1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- skeletal muscle
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- head
- mouth
- salivary gland
Thorax:
- breast
- esophagus
Abdomen:
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- small intestine
- spleen
Pelvis:
- testicle
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood vessel
- coagulation system
- skin
Primer products for research
-
OriGene qPCR primer pairs for GPC1
-
OriGene qPCR primer pairs and template standards for GPC1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GPC1 Gene
Orthologs for GPC1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GPC1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | GPC1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GPC1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gpc1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gpc1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | GPC1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GPC1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GPC1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GPC1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gpc1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gpc1a 30 31 |
|
OneToMany | |
| GPC1 (2 of 3) 31 |
|
OneToMany | |||
| gpc1b 31 |
|
OneToMany | |||
| zgc63947 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | dlp 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | gpn-1 31 |
|
OneToMany |
- Species where no ortholog for GPC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for GPC1 Gene
- ENSEMBL:
- Gene Tree for GPC1 (if available)
- TreeFam:
- Gene Tree for GPC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GPC1: view image
Paralogs for GPC1 Gene
Variants for GPC1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPC1 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs138375141 | Likely Benign: not provided | 240,462,311(+) |
G/A NM_002081.3(GPC1):c.446G>A (p.Arg149His) |
MISSENSE | |
| rs2228329 | Benign: not provided | 240,465,497(+) |
C/T NM_002081.3(GPC1):c.1293C>T (p.Asp431=) |
SYNONYMOUS | |
| rs61737161 | Benign: not provided | 240,462,246(+) |
C/T NM_002081.3(GPC1):c.381C>T (p.Pro127=) |
SYNONYMOUS | |
| rs972321554 | Likely Benign: not provided | 240,465,626(+) |
C/T NM_002081.3(GPC1):c.1422C>T (p.Asn474=) |
SYNONYMOUS | |
| VAR_036044 | A breast cancer sample |
p.Ala337Asp |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv7359n54 | CNV | loss | 21841781 |
| esv1000024 | CNV | deletion | 20482838 |
| esv1515337 | CNV | insertion | 17803354 |
| esv2721931 | CNV | deletion | 23290073 |
| esv2721932 | CNV | deletion | 23290073 |
| esv2721933 | CNV | deletion | 23290073 |
| esv2759119 | CNV | gain | 17122850 |
| esv3594796 | CNV | gain | 21293372 |
| esv3594798 | CNV | gain | 21293372 |
| nsv1071663 | CNV | deletion | 25765185 |
| nsv1122025 | CNV | deletion | 24896259 |
| nsv1126584 | CNV | deletion | 24896259 |
| nsv460157 | CNV | loss | 19166990 |
| nsv460158 | CNV | loss | 19166990 |
| nsv473084 | CNV | novel sequence insertion | 20440878 |
| nsv508899 | CNV | insertion | 20534489 |
| nsv516179 | CNV | loss | 19592680 |
| nsv584809 | CNV | gain | 21841781 |
| nsv584810 | CNV | loss | 21841781 |
| nsv584811 | CNV | loss | 21841781 |
| nsv819854 | CNV | gain | 19587683 |
| nsv834585 | CNV | loss | 17160897 |
| nsv955288 | CNV | deletion | 24416366 |
| nsv997288 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
80% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GPC1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPC1 Gene
Disorders for GPC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| biliary atresia, extrahepatic |
|
|
| omodysplasia |
|
|
| simpson-golabi-behmel syndrome, type 1 |
|
|
| alzheimer disease |
|
|
| hereditary multiple exostoses |
|
|
Search GPC1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GPC1_HUMAN- Note=Associates (via the heparan sulfate side chains) with fibrillar APP amyloid-beta peptides in primitive and classic amyloid plaques and may be involved in the deposition of these senile plaques in the Alzheimer disease (AD) brain (PubMed:15084524). {ECO:0000269 PubMed:15084524}.
- Note=Misprocessing of GPC1 is found in fibroblasts of patients with Niemann-Pick Type C1 disease. This is due to the defective deaminative degradation of heparan sulfate chains (PubMed:16645004). {ECO:0000269 PubMed:16645004}.
Additional Disease Information for GPC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
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No data available for Genatlas for GPC1 Gene
Publications for GPC1 Gene
- Crystal structure of N-glycosylated human glypican-1 core protein: structure of two loops evolutionarily conserved in vertebrate glypican-1. (PMID: 22351761) Svensson G … Logan DT (The Journal of biological chemistry 2012) 3 4
- The structural role of N-linked glycans on human glypican-1. (PMID: 21932778) Svensson G … Mani K (Biochemistry 2011) 3 4
- S-Nitrosylation of secreted recombinant human glypican-1. (PMID: 19479373) Svensson G … Mani K (Glycoconjugate journal 2009) 3 4
- A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. (PMID: 19023125) Potkin SG … FBIRN (Schizophrenia bulletin 2009) 3 41
- Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. (PMID: 18634034) Hu Z … Shen H (Human mutation 2009) 3 41
ExternalLinks
Products for GPC1 Gene
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Sources for GPC1 Gene
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