GPC6
Glypican-6
Also known as: GPC6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y625
- Gene
- GPC6
- Ensembl
- ENSG00000183098
- Chromosome
- 13
- Canonical length
- 555 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Vesicles
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
Canonical amino-acid sequenceUniProt
555 residues, UniProt reviewed canonical sequence.
>Q9Y625|GPC6
1 MPSWIGAVIL PLLGLLLSLP AGADVKARSC GEVRQAYGAK GFSLADIPYQ EIAGEHLRIC
61 PQEYTCCTTE MEDKLSQQSK LEFENLVEET SHFVRTTFVS RHKKFDEFFR ELLENAEKSL
121 NDMFVRTYGM LYMQNSEVFQ DLFTELKRYY TGGNVNLEEM LNDFWARLLE RMFQLINPQY
181 HFSEDYLECV SKYTDQLKPF GDVPRKLKIQ VTRAFIAART FVQGLTVGRE VANRVSKVSP
241 TPGCIRALMK MLYCPYCRGL PTVRPCNNYC LNVMKGCLAN QADLDTEWNL FIDAMLLVAE
301 RLEGPFNIES VMDPIDVKIS EAIMNMQENS MQVSAKVFQG CGQPKPAPAL RSARSAPENF
361 NTRFRPYNPE ERPTTAAGTS LDRLVTDIKE KLKLSKKVWS ALPYTICKDE SVTAGTSNEE
421 ECWNGHSKAR YLPEIMNDGL TNQINNPEVD VDITRPDTFI RQQIMALRVM TNKLKNAYNG
481 NDVNFQDTSD ESSGSGSGSG CMDDVCPTEF EFVTTEAPAV DPDRREVDSS AAQRGHSLLS
541 WSLTCIVLAL QRLCRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GPC6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- ovary: 18 nTPM
- liver: 17 nTPM
- gallbladder: 16 nTPM
- seminal vesicle: 14 nTPM
- blood vessel: 11 nTPM
- urinary bladder: 11 nTPM
Single-cell type
- pituicytes/fscs: 3,669 nCPM
- podocytes: 2,171 nCPM
- rod photoreceptor cells: 1,571 nCPM
- bergmann glia: 1,540 nCPM
- corticotrophs: 1,145 nCPM
- adipocytes: 1,074 nCPM
Immune cell
- NK-cell: 0.4 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- hypothalamus: 8.6 nTPM
- midbrain: 7.1 nTPM
- pons: 6.8 nTPM
- white matter: 6.4 nTPM
- spinal cord: 6.2 nTPM
- thalamus: 6.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GPC6.
Disease | AllUniProt
Conditions GPC6 is implicated in, by any mechanism.
- Omodysplasia 1 (OMOD1) MIM:258315
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 380 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive omodysplasia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.51
- gnomAD pLI
- 0.14
- gnomAD missense Z
- 0.9
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell migration
- regulation of neurotransmitter receptor localization to postsynaptic specialization membrane
- regulation of signal transduction
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GPC6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GPC6 as an antibody target. Whether an autoantibody or antibody against GPC6 could matter depends on whether native GPC6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GPC6 is annotated at the cell surface, where native GPC6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GPC6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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