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gptkbp:instanceOf
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gptkb:protein
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gptkbp:alternativeName
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PTHR
PTH/PTHrP receptor
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gptkbp:associatedWith
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Blomstrand chondrodysplasia
Jansen's metaphyseal chondrodysplasia
Eiken syndrome
Primary failure of tooth eruption
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gptkbp:biologicalProcess
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G protein-coupled receptor activity
hormone receptor activity
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gptkbp:discoveredIn
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1991
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gptkbp:encodedBy
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PTH1R gene
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gptkbp:ensembl
|
ENSG00000152266
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gptkbp:expressedIn
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gptkb:bone
gptkb:kidney
gptkb:placenta
gptkb:testis
collagen
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gptkbp:family
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G protein-coupled receptor 2 family
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gptkbp:fullName
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Parathyroid hormone 1 receptor
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gptkbp:function
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gptkb:G_protein-coupled_receptor
binds parathyroid hormone (PTH)
binds parathyroid hormone-related peptide (PTHrP)
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gptkbp:gene
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gptkb:PTH1R
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gptkbp:HGNC_ID
|
9608
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|
https://www.w3.org/2000/01/rdf-schema#label
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PTH1R
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gptkbp:involvedIn
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bone metabolism
calcium homeostasis
phosphate metabolism
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gptkbp:length
|
593
|
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gptkbp:ligand
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gptkb:parathyroid_hormone
parathyroid hormone-related peptide
|
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gptkbp:locatedOnChromosome
|
3p21.31
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gptkbp:location
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gptkb:plasma_membrane
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gptkbp:mutationAssociatedWith
|
can cause skeletal dysplasia
can cause abnormal tooth eruption
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gptkbp:OMIM
|
168468
|
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gptkbp:organism
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gptkb:Homo_sapiens
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gptkbp:orthologIn
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gptkb:mouse
gptkb:zebrafish
right
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gptkbp:phosphorylates
|
Serine 491
Threonine 503
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gptkbp:RefSeq
|
NP_000307.1
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gptkbp:structure
|
7 transmembrane domains
|
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gptkbp:subfamily
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gptkb:Secretin_receptor_family
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gptkbp:type
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gptkb:cAMP_pathway
phospholipase C pathway
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gptkbp:UniProtID
|
Q03431
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gptkbp:bfsParent
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gptkb:PTH
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gptkbp:bfsLayer
|
6
|