InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-77094

patched 1

IDBP-77098

patched 1

IDBP-77104

patched 1

IDBP-77106

patched 1

IDBP-375905

patched 1

IDBP-375907

patched 1

IDBP-375925

patched 1

IDBP-375927

patched 1

IDBP-375928

patched 1

IDBP-595118

patched 1

IDBP-588603

patched 1

IDBP-597770

patched 1

IDBP-593085

patched 1

IDBP-594916

patched 1

IDBP-593561

patched 1

IDBP-597479

patched 1

IDBP-602647

patched 1

IDBP-595936

patched 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 21131441

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

PMID 21131441

[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