• Gene id: 5727

Gene Summary

• Gene Symbol: PTCH1   Gene   UCSC   Ensembl
• Aliases: BCNS, NBCCS, PTC, PTC1, PTCH
• Gene name: patched 1
• Alternate names: protein patched homolog 1,
• Gene location: 9q22.32 (95517056: 95442979)     Exons: 28     NC_000009.12
• Gene summary(Entrez): 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 ligan
• OMIM: 611711

Protein Summary

• Protein general information: Q13635  
  • Name: Protein patched homolog 1 (PTC) (PTC1)
  • Length: 1447  
  • Mass: 160545
  • Tissue specificity: In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.
• Sequence:

  MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKATGRKA
  PLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEE
  AMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYP
  CLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPA
  DPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHALQTMFQLMTPKQMYEH
  FKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVLSFTTTTLDDILKSFSDVSVIRVASGYLLML
  AYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSET
  GQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDL
  YRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHDNTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVY
  YTTAEPRSEISVQPVTVTQDTLSCQSPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAK
  VVVIFLFLGLLGVSLYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRS
  FSNVKYVMLEENKQLPKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDIS
  QLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFP
  FYLNGLRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLLNP
  WTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALEHMFAP
  VLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEP
  PPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATENPVFAHSTVVHPESR
  HHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGHSGPSNRARWGPRGARSHNPR
  NPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPGYPETDHGLFEDPHVPFHVRCERRDS
  KVEVIELQDVECEERPRGSSSN

• Structural information:
  • Protein Domains: (438..59-)
    (/note="SSD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00199"-)
  • Interpro: IPR003392  IPR000731  IPR004766  
  • Prosite: PS50156
  • PDB: 6DMB 6DMO 6DMY 6E1H 6N7G 6N7H 6N7K 6OEU 6OEV 6RMG 6RTW 6RTX 6RTY 6RVC 6RVD
  • PDBsum: 6DMB 6DMO 6DMY 6E1H 6N7G 6N7H 6N7K 6OEU 6OEV 6RMG 6RTW 6RTX 6RTY 6RVC 6RVD
  • DIP: 44940
  • STRING: ENSP00000332353
• Other Databases: GeneCards:  PTCH1  Malacards:  PTCH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005119	smoothened binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0097108	hedgehog family protein binding	IBA	molecular function
GO:0008158	hedgehog receptor activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008158	hedgehog receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071679	commissural neuron axon guidance	IEA	biological process
GO:0044295	axonal growth cone	IEA	cellular component
GO:0032355	response to estradiol	IEA	biological process
GO:0030850	prostate gland development	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0035137	hindlimb morphogenesis	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0005113	patched binding	IEA	molecular function
GO:0001841	neural tube formation	IEA	biological process
GO:0001709	cell fate determination	IEA	biological process
GO:0072203	cell proliferation involved in metanephros development	IEA	biological process
GO:0061053	somite development	IEA	biological process
GO:0051782	negative regulation of cell division	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045606	positive regulation of epidermal cell differentiation	IEA	biological process
GO:0043616	keratinocyte proliferation	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:0044294	dendritic growth cone	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0032880	regulation of protein localization	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0030496	midbody	IEA	cellular component
GO:0030332	cyclin binding	IEA	molecular function
GO:0021997	neural plate axis specification	IEA	biological process
GO:0010157	response to chlorate	IEA	biological process
GO:0009957	epidermal cell fate specification	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0007420	brain development	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007346	regulation of mitotic cell cycle	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0003007	heart morphogenesis	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0071397	cellular response to cholesterol	IEA	biological process
GO:0061005	cell differentiation involved in kidney development	IEA	biological process
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0060644	mammary gland epithelial cell differentiation	IEA	biological process
GO:0060603	mammary gland duct morphogenesis	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0040015	negative regulation of multicellular organism growth	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0015485	cholesterol binding	IDA	molecular function
GO:0005119	smoothened binding	IPI	molecular function
GO:0005119	smoothened binding	IPI	molecular function
GO:0030332	cyclin binding	IPI	molecular function
GO:0030332	cyclin binding	IPI	molecular function
GO:0097108	hedgehog family protein binding	IPI	molecular function
GO:0097108	hedgehog family protein binding	IPI	molecular function
GO:0097108	hedgehog family protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IDA	colocalizes with
GO:0005901	caveola	IDA	cellular component
GO:0010875	positive regulation of cholesterol efflux	IDA	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0072659	protein localization to plasma membrane	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043433	negative regulation of DNA-binding transcription factor activity	IMP	biological process
GO:0061053	somite development	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0007420	brain development	ISS	biological process
GO:0021532	neural tube patterning	IMP	biological process
GO:0021997	neural plate axis specification	ISS	biological process
GO:0035108	limb morphogenesis	IMP	biological process
GO:0045668	negative regulation of osteoblast differentiation	IMP	biological process
GO:0045879	negative regulation of smoothened signaling pathway	ISS	biological process
GO:0045879	negative regulation of smoothened signaling pathway	TAS	biological process
GO:0060037	pharyngeal system development	IMP	biological process
GO:0060037	pharyngeal system development	IMP	biological process
GO:0071397	cellular response to cholesterol	ISS	biological process
GO:0071397	cellular response to cholesterol	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0048745	smooth muscle tissue development	IEP	biological process
GO:0016485	protein processing	ISS	biological process
GO:0009953	dorsal/ventral pattern formation	ISS	biological process
GO:0072205	metanephric collecting duct development	IEP	biological process
GO:0040015	negative regulation of multicellular organism growth	ISS	biological process
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0009887	animal organ morphogenesis	ISS	biological process
GO:0008589	regulation of smoothened signaling pathway	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04024	cAMP signaling pathway
hsa04360	Axon guidance
hsa05205	Proteoglycans in cancer
hsa05217	Basal cell carcinoma
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Medulloblastoma	KEGG:H01667
Holoprosencephaly	KEGG:H00267
Basal cell nevus syndrome	KEGG:H00895
Basal cell carcinoma	KEGG:H00039
Medulloblastoma	KEGG:H01667
Holoprosencephaly	KEGG:H00267
Basal cell nevus syndrome	KEGG:H00895
Basal cell carcinoma	KEGG:H00039
Spina bifida	PMID:26446020
pancreatic cancer	PMID:19396459
nevoid basal cell carcinoma syndrome	PMID:15308259
nevoid basal cell carcinoma syndrome	PMID:19557015
nevoid basal cell carcinoma syndrome	PMID:12925203
nevoid basal cell carcinoma syndrome	PMID:21514272
basal cell carcinoma	PMID:10504535
Hyperglycemia	PMID:16804411
Holoprosencephaly	PMID:11941477
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq