Homo sapiens Gene: PTCH1
Summary
InnateDB Gene IDBG-77092.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PTCH1
Gene Name patched 1
Synonyms BCNS; HPE7; NBCCS; PTC; PTC1; PTCH; PTCH11;
Species Homo sapiens
Ensembl Gene ENSG00000185920
Encoded Proteins
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
patched 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PTCH1 is a member of the Hedgehog signalling pathway and is important for LPS-induced inflammatory response in macrophages. (Demonstrated in Murine model)
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Ptch is a member of the Hedgehog signaling pathway and is important for LPS-induced inflammatory response in macrophages.
Entrez Gene
Summary This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:95442980-95517057
Strand Reverse strand
Band q22.32
Transcripts
ENST00000375290 ENSP00000364439
ENST00000331920 ENSP00000332353
ENST00000375274 ENSP00000364423
ENST00000375271 ENSP00000364420
ENST00000430669 ENSP00000410287
ENST00000437951 ENSP00000389744
ENST00000421141 ENSP00000399981
ENST00000429896 ENSP00000414823
ENST00000418258 ENSP00000396135
ENST00000488809
ENST00000468211 ENSP00000449745
ENST00000546744
ENST00000547615
ENST00000549678
ENST00000548420 ENSP00000449078
ENST00000553011 ENSP00000447797
ENST00000551845 ENSP00000447008
ENST00000547672 ENSP00000447878
ENST00000546820 ENSP00000448843
ENST00000548379
ENST00000548945
ENST00000550914 ENSP00000450047
ENST00000553256
ENST00000550136
ENST00000551630 ENSP00000450131
ENST00000551623 ENSP00000447242
ENST00000551425
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
Experimentally validated
Total 24 [view]
Protein-Protein 22 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005113 patched binding
GO:0005119 smoothened binding
GO:0005515 protein binding
GO:0008158 hedgehog receptor activity
GO:0008201 heparin binding
GO:0015485 cholesterol binding
GO:0030332 cyclin binding
GO:0032403 protein complex binding
GO:0097108 hedgehog family protein binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001701 in utero embryonic development
GO:0001841 neural tube formation
GO:0001843 neural tube closure
GO:0003007 heart morphogenesis
GO:0007165 signal transduction
GO:0007224 smoothened signaling pathway
GO:0007346 regulation of mitotic cell cycle
GO:0007389 pattern specification process
GO:0007420 brain development
GO:0008285 negative regulation of cell proliferation
GO:0008544 epidermis development
GO:0008589 regulation of smoothened signaling pathway
GO:0009612 response to mechanical stimulus
GO:0009887 organ morphogenesis
GO:0009953 dorsal/ventral pattern formation
GO:0010157 response to chlorate
GO:0010875 positive regulation of cholesterol efflux
GO:0014070 response to organic cyclic compound
GO:0016485 protein processing
GO:0021522 spinal cord motor neuron differentiation
GO:0021532 neural tube patterning
GO:0021904 dorsal/ventral neural tube patterning
GO:0021997 neural plate axis specification
GO:0030326 embryonic limb morphogenesis
GO:0030879 mammary gland development
GO:0032355 response to estradiol
GO:0032526 response to retinoic acid
GO:0032880 regulation of protein localization
GO:0035108 limb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0040008 regulation of growth
GO:0040015 negative regulation of multicellular organism growth
GO:0042127 regulation of cell proliferation
GO:0042493 response to drug
GO:0042593 glucose homeostasis
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043616 keratinocyte proliferation
GO:0045087 innate immune response (InnateDB)
GO:0045668 negative regulation of osteoblast differentiation
GO:0045879 negative regulation of smoothened signaling pathway
GO:0048568 embryonic organ development
GO:0050680 negative regulation of epithelial cell proliferation
GO:0051782 negative regulation of cell division
GO:0060037 pharyngeal system development
GO:0060603 mammary gland duct morphogenesis
GO:0060644 mammary gland epithelial cell differentiation
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0061005 cell differentiation involved in kidney development
GO:0061053 somite development
GO:0071397 cellular response to cholesterol
GO:0072001 renal system development
GO:0072203 cell proliferation involved in metanephros development
GO:0072661 protein targeting to plasma membrane
Cellular Component
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030496 midbody
GO:0043231 intracellular membrane-bounded organelle
GO:0044294 dendritic growth cone
GO:0044295 axonal growth cone
GO:0048471 perinuclear region of cytoplasm
GO:0072372 primary cilium
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
Hedgehog pathway
REACTOME
Signaling by Hedgehog pathway
Signaling by GPCR pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
GPCR ligand binding pathway
Class B/2 (Secretin family receptors) pathway
KEGG
Hedgehog signaling pathway pathway
Pathways in cancer pathway
Basal cell carcinoma pathway
INOH
Hedgehog signaling pathway pathway
PID BIOCARTA
Sonic hedgehog receptor ptc1 regulates cell cycle [Biocarta view]
PID NCI
Glypican 3 network
Signaling events mediated by the Hedgehog family
Hedgehog signaling events mediated by Gli proteins
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.494538
RefSeq NM_000264 NM_001083602 NM_001083603 NM_001083604 NM_001083605 NM_001083606 NM_001083607 XM_005252102
HUGO
OMIM
CCDS CCDS43851 CCDS47995 CCDS47996 CCDS6714
HPRD 03200
IMGT
EMBL
GenPept
RNA Seq Atlas