|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:PTCH1
Patched-1
protein patched homolog 1
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|
gptkbp:associatedWith
|
gptkb:Gorlin_syndrome
basal cell carcinoma
|
|
gptkbp:Entrez_Gene_ID
|
5727
ENSG00000185920
|
|
gptkbp:expressedIn
|
various tissues
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gptkbp:family
|
gptkb:Patched_family
|
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gptkbp:function
|
negative regulator of Hedgehog signaling pathway
receptor for Sonic Hedgehog (SHH)
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|
gptkbp:gene
|
gptkb:PTCH1
PTCH
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Patched (PTCH)
|
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gptkbp:interactsWith
|
gptkb:Smoothened_(SMO)
Sonic Hedgehog (SHH)
|
|
gptkbp:locatedOnChromosome
|
9q22.3
|
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gptkbp:location
|
gptkb:cell_membrane
|
|
gptkbp:molecularWeight
|
~160 kDa
|
|
gptkbp:mutationAssociatedWith
|
loss-of-function
constitutive activation of Hedgehog pathway
|
|
gptkbp:OMIM
|
601309
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:pathway
|
gptkb:Hedgehog_signaling_pathway
|
|
gptkbp:PDB
|
gptkb:6DMY
|
|
gptkbp:role
|
embryonic patterning
|
|
gptkbp:role_in_cancer
|
tumor suppressor
|
|
gptkbp:transmembraneDomains
|
12
|
|
gptkbp:UniProtID
|
Q13635
|
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gptkbp:bfsParent
|
gptkb:Hedgehog_signaling_pathway
|
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gptkbp:bfsLayer
|
7
|