|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PTC
gptkb:NBCCS
gptkb:PTC1
|
|
gptkbp:associatedWith
|
gptkb:medulloblastoma
gptkb:rhabdomyosarcoma
gptkb:Gorlin_syndrome
gptkb:odontogenic_keratocyst
glioma
basal cell carcinoma
meningioma
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Gorlin syndrome
|
|
gptkbp:discoveredBy
|
gptkb:Matthew_P._Scott
|
|
gptkbp:encodes
|
gptkb:Patched-1_protein
|
|
gptkbp:Entrez_Gene_ID
|
5727
ENSG00000185920
|
|
gptkbp:expressedIn
|
gptkb:skin
brain
developing tissues
|
|
gptkbp:fullName
|
gptkb:Patched_1
|
|
gptkbp:function
|
receptor in Hedgehog signaling pathway
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_function
|
Hedgehog receptor activity
|
|
gptkbp:GOProcess
|
cell differentiation
embryonic development
signal transduction
|
|
gptkbp:HGNC_ID
|
9585
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PTCH1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
1447 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:9q22.32
|
|
gptkbp:location
|
gptkb:cell_membrane
|
|
gptkbp:mutationAssociatedWith
|
germline
somatic
tumor suppressor loss
constitutive activation of Hedgehog pathway
|
|
gptkbp:OMIM
|
601309
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
|
|
gptkbp:pathway
|
gptkb:Hedgehog_signaling
|
|
gptkbp:PDB
|
gptkb:6DMY
gptkb:6N7H
6RVD
|
|
gptkbp:proteinFamily
|
gptkb:Patched_family
cell surface receptor
|
|
gptkbp:regulates
|
gptkb:Smoothened_(SMO)
|
|
gptkbp:transmembraneDomains
|
12
|
|
gptkbp:UniProtID
|
Q13635
|
|
gptkbp:bfsParent
|
gptkb:chromosome_9
|
|
gptkbp:bfsLayer
|
6
|