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Tbio
PTCH1
Protein patched homolog 1

Protein Summary
Description
Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by Ref ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000331920
  • ENSP00000332353
  • ENSG00000185920
  • ENST00000375274
  • ENSP00000364423
  • ENST00000418258
  • ENSP00000396135
  • ENST00000421141
  • ENSP00000399981
  • ENST00000429896
  • ENSP00000414823
  • ENST00000430669
  • ENSP00000410287
  • ENST00000437951
  • ENSP00000389744

Symbol
  • PTCH
  • PTC
  • BCNS
  • PTC1
  • PTCH
  • NBCCS
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
PubMedID
0.98
transcription factor perturbation
0.97
molecular function
0.91
biological term
0.9


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1303.48   (req: < 5)
Gene RIFs: 197   (req: <= 3)
Antibodies: 609   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1303.48   (req: >= 5)
Gene RIFs: 197   (req: > 3)
Antibodies: 609   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 59
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (30)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
appendicular lean mass
3
2
3
99
birth weight
5
4
5
98
heel bone mineral density
3
3
5
96.8
neuroticism measurement
4
4
2
7.6
96.7
cortical surface area measurement
1
3
0
16.1
96.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
appendicular lean mass
3
99
birth weight
5
98
heel bone mineral density
5
96.8
neuroticism measurement
2
7.6
96.7
cortical surface area measurement
0
16.1
96.7
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Mouse
MGI:105373
19206
Rat
RGD:621425
89830
Dog
patched 1
VGNC:49951
484137
Horse
patched 1
VGNC:21979
100033936
Pig
patched 1
100627504
Species
Name
OMA
EggNOG
Inparanoid
Mouse
Rat
Dog
patched 1
Horse
patched 1
Pig
patched 1
Protein Structure (6 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q13635-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 6
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (56)
Activation of SMO (R-HSA-5635838)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 10
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Activation of SMO
Reactome
Class B/2 (Secretin family receptors)
Reactome
GLI proteins bind promoters of Hh responsive genes to promote transcription
Reactome
GPCR ligand binding
Reactome
Hedgehog 'off' state
Name
Explore in Pharos
Explore in Source
Activation of SMO
Class B/2 (Secretin family receptors)
GLI proteins bind promoters of Hh responsive genes to promote transcription
GPCR ligand binding
Hedgehog 'off' state
Gene Ontology Terms (71)
Items per page:
10
1 – 8 of 8
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (224)
1 – 10 of 224
UGT3A2
Tbio
Family: Enzyme
Novelty: 0.35904542
p_int: 0.99988326
p_ni: 0.000096999
p_wrong: 0.00001974
Data Source: BioPlex
ST3GAL6
Tbio
Family: Enzyme
Novelty: 0.05226811
p_int: 0.99945899
p_ni: 0.000541008
p_wrong: 2e-9
Data Source: BioPlex
PXYLP1
Tbio
Family: Enzyme
Novelty: 0.04672634
p_int: 0.999186379
p_ni: 0.00081359
p_wrong: 3.1e-8
Data Source: BioPlex
CNTNAP3
Tdark
Novelty: 0.22791524
p_int: 0.998786255
p_ni: 0.001213745
Data Source: BioPlex
CNNM1
Tdark
Novelty: 0.11053515
p_int: 0.998419358
p_ni: 0.001580628
p_wrong: 1.3e-8
Score: 0.169
Data Source: BioPlex,STRINGDB
TPST2
Tbio
Family: Enzyme
Novelty: 0.02551048
p_int: 0.998300657
p_ni: 0.001699339
p_wrong: 3e-9
Data Source: BioPlex
ST8SIA4
Tbio
Family: Enzyme
Novelty: 0.00338436
p_int: 0.998004386
p_ni: 0.00111171
p_wrong: 0.000883904
Score: 0.181
Data Source: BioPlex,STRINGDB
TMEM132A
Tdark
Novelty: 0.26489093
p_int: 0.997844209
p_ni: 0.002155791
Data Source: BioPlex
SEMA6A
Tbio
Novelty: 0.00624456
p_int: 0.997783558
p_ni: 0.002141012
p_wrong: 0.00007543
Score: 0.22
Data Source: BioPlex,STRINGDB
IMPAD1
Tbio
Family: Enzyme
Novelty: 0.08211251
p_int: 0.997553639
p_ni: 0.002446361
Score: 0.166
Data Source: BioPlex,STRINGDB
Publication Statistics
PubMed Score  1303.48

PubMed score by year
PubTator Score  726.05

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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