Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans.
-
Initial characterization of GPC6 as a cell surface HSPG with tissue-specific expression
"The glypican-6 mRNA encodes a protein of 555 amino acids that is most homologous to glypican-4 (identity of 63%). Expression of this protein in Namalwa cells shows a core protein of approximately 60 kDa that is substituted with heparan sulfate only."
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
-
Biallelic loss-of-function GPC6 mutations cause autosomal recessive omodysplasia type 1
"We now report that autosomal-recessive omodysplasia, a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay, maps to chromosome 13 (13q31.1-q32.2) and is caused by point mutations or by larger genomic rearrangements in glypican 6 (GPC6)."
-
Mutations lead to impaired endochondral ossification and skeletal abnormalities
"GPC6 seems to have a previously unsuspected role in endochondral ossification and skeletal growth, and its functional abrogation results in a short-limb phenotype."
Proteomic characterization of the human sperm nucleus.
NFAT promotes carcinoma invasive migration through glypican-6.
-
NFAT transcriptionally induces GPC6 expression in breast cancer cells
"NFAT transcriptionally regulates GPC6 induction in breast cancer cells and binds to three regulatory elements in the GPC6 proximal promoter."
-
GPC6 promotes invasive migration through non-canonical Wnt5A signaling
"Expression of GPC6 in response to NFAT signalling promotes invasive migration, whereas GPC6 silencing with shRNA (small-hairpin RNA) potently blocks this phenotype."
-
GPC6 inhibits canonical Wnt/beta-catenin signaling
"The mechanism by which GPC6 promotes invasive migration involves inhibition of canonical β-catenin and Wnt signalling, and up-regulation of non-canonical Wnt5A signalling leading to the activation of JNK (c-Jun N-terminal kinase) and p38 MAPK (mitogen-activated protein kinase)"
-
GPC6 activates JNK and p38 MAPK signaling
"up-regulation of non-canonical Wnt5A signalling leading to the activation of JNK (c-Jun N-terminal kinase) and p38 MAPK (mitogen-activated protein kinase)."
Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease.
EB1-binding-myomegalin protein complex promotes centrosomal microtubules functions.
UniProt entry for Glypican-6 (GPC6_HUMAN)
-
GPC6 is a GPI-anchored cell surface proteoglycan
"Cell surface proteoglycan that bears heparan sulfate."
-
Functions as putative co-receptor for growth factors
"Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases"
Reactome pathway R-HSA-1667005
Reactome pathway R-HSA-1678694
Reactome pathway R-HSA-1878002
Reactome pathway R-HSA-1889955
Reactome pathway R-HSA-1889978
Reactome pathway R-HSA-1889981
Reactome pathway R-HSA-2022851
Reactome pathway R-HSA-2022856
Reactome pathway R-HSA-2022860
Reactome pathway R-HSA-2022887
Reactome pathway R-HSA-2024084
Reactome pathway R-HSA-2024108
Reactome pathway R-HSA-2076383
Reactome pathway R-HSA-2076392
Reactome pathway R-HSA-2076419
Reactome pathway R-HSA-2076508
Reactome pathway R-HSA-2076611
Reactome pathway R-HSA-2404131
Reactome pathway R-HSA-2423785
Reactome pathway R-HSA-2429643
Reactome pathway R-HSA-3560802
Reactome pathway R-HSA-3560804
Reactome pathway R-HSA-3656254
Reactome pathway R-HSA-3656257
Reactome pathway R-HSA-3656261
Reactome pathway R-HSA-3656267
Reactome pathway R-HSA-4420365
Reactome pathway R-HSA-9036285
Reactome pathway R-HSA-9036289
Reactome pathway R-HSA-9694579
Reactome pathway R-HSA-9694661
Reactome pathway R-HSA-9698988
Reactome pathway R-HSA-9699007
Reactome pathway R-HSA-9836899
Reactome pathway R-HSA-9940993
Reactome pathway R-HSA-9941039
Reactome pathway R-HSA-9953259