Ptch1 (patched 1) - Rat Genome Database

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Gene: Ptch1 (patched 1) Rattus norvegicus
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Symbol: Ptch1
Name: patched 1
RGD ID: 621425
Description: Predicted to enable several functions, including cholesterol binding activity; cyclin binding activity; and signaling receptor binding activity. Involved in several processes, including commissural neuron axon guidance; liver regeneration; and response to estradiol. Located in growth cone; nucleus; and postsynaptic density. Human ortholog(s) of this gene implicated in carcinoma (multiple); holoprosencephaly (multiple); nevoid basal cell carcinoma syndrome; and stomach cancer. Orthologous to human PTCH1 (patched 1); PARTICIPATES IN altered Hedgehog signaling pathway; glypican signaling pathway; Hedgehog signaling pathway; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: LOC290961; patched (Drosophila) homolog; patched homolog 1; patched homolog 1 (Drosophila); patched homolog 2; Ptch; Ptch2
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2171,542,705 - 1,607,730 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl171,542,877 - 1,607,333 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx171,561,414 - 1,626,441 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0173,104,008 - 3,169,034 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0171,558,861 - 1,623,889 (+)NCBIRnor_WKY
Rnor_6.0171,032,242 - 1,085,885 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl171,029,048 - 1,093,873 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0171,025,798 - 1,079,561 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,088,234 - 7,142,459 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera17917,710 - 971,638 (-)NCBICelera
Cytogenetic Map17p14NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Aberrant Crypt Foci  (ISO)
acute myeloid leukemia  (ISO)
Axenfeld-Rieger syndrome  (ISO)
basal cell carcinoma  (ISO)
basaloid squamous cell carcinoma  (ISO)
Brain Neoplasms  (ISO)
breast carcinoma  (ISO)
Cardiovascular Abnormalities  (ISO)
Choroidal Neovascularization  (IEP)
Chronic Experimental Pancreatitis  (IEP)
cleft lip  (ISO)
cleft palate  (ISO)
colorectal adenoma  (ISO)
congenital heart disease  (ISO)
COVID-19  (ISO)
Craniofacial Abnormalities  (ISO)
craniopharyngioma  (ISO)
Craniosynostosis Syndrome, Autosomal Recessive  (ISO)
demyelinating disease  (ISO)
esophagus squamous cell carcinoma  (ISO)
Experimental Arthritis  (IEP)
Fanconi anemia  (ISO)
focal dermal hypoplasia  (ISO)
Fraser syndrome 3  (ISO)
gallbladder carcinoma  (ISO)
Gastrointestinal Neoplasms  (ISO)
gastrointestinal stromal tumor  (ISO)
genetic disease  (ISO)
germinoma  (ISO)
hepatocellular carcinoma  (ISO)
hereditary breast ovarian cancer syndrome  (ISO)
Hereditary Neoplastic Syndromes  (ISO)
Hirschsprung's disease  (ISO)
holoprosencephaly  (ISO)
holoprosencephaly 7  (ISO)
human immunodeficiency virus infectious disease  (ISO)
hydrocephalus  (ISO)
hyperglycemia  (ISO)
Hyperoxic Lung Injury  (IEP)
intellectual disability  (ISO)
lung adenocarcinoma  (ISO)
lung squamous cell carcinoma  (ISO)
medulloblastoma  (ISO)
myopia  (ISO)
nasopharyngitis  (ISO)
Neoplasm Metastasis  (ISO)
neuroblastoma  (ISO)
nevoid basal cell carcinoma syndrome  (ISO)
omphalocele  (ISO)
pancreatic cancer  (ISO)
Patterson Stevenson Syndrome  (ISO)
Peters anomaly  (ISO)
Pituitary Stalk Interruption Syndrome  (ISO)
Preaxial Polydactyly II  (ISO)
Precocious Puberty  (ISO)
Primitive Neuroectodermal Tumors  (ISO)
retinoblastoma  (ISO)
rhabdomyosarcoma  (ISO)
Skin Neoplasms  (ISO)
spina bifida  (ISO)
stomach cancer  (ISO)
Subarachnoid Hemorrhage  (IEP)
syndromic microphthalmia 5  (ISO)
uterine fibroid  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (EXP)
Ac-Ser-Asp-Lys-Pro-OH  (EXP,ISO)
acetamide  (EXP)
acrylamide  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
ammonium chloride  (EXP)
amphetamine  (EXP)
aristolochic acid A  (ISO)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
azathioprine  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (ISO)
benzoates  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
cannabidiol  (EXP)
captopril  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
colforsin daropate hydrochloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
curcumin  (EXP)
Cyclopamine  (EXP,ISO)
D-glucose  (ISO)
DDE  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibutyl phthalate  (EXP,ISO)
diheptyl phthalate  (EXP)
dioxygen  (ISO)
dorsomorphin  (ISO)
entinostat  (ISO)
ethanol  (ISO)
flavonoids  (EXP)
folic acid  (ISO)
formaldehyde  (ISO)
fulvestrant  (EXP,ISO)
glucose  (ISO)
goralatide  (EXP,ISO)
indometacin  (ISO)
irinotecan  (ISO)
itraconazole  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP,ISO)
melittin  (ISO)
methotrexate  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
nitrofen  (EXP)
paracetamol  (EXP)
paraquat  (EXP)
phenylmercury acetate  (ISO)
phenytoin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
SB 431542  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (ISO)
sunitinib  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP,ISO)
titanium dioxide  (ISO)
trichostatin A  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (ISO)
vismodegib  (ISO)
vorinostat  (ISO)
zinc oxide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (ISO,ISS)
brain development  (ISO)
branching involved in ureteric bud morphogenesis  (ISO)
cell differentiation involved in kidney development  (ISO)
cell fate determination  (ISO)
cell proliferation involved in metanephros development  (ISO)
cellular response to cholesterol  (ISO)
commissural neuron axon guidance  (IMP)
dorsal/ventral neural tube patterning  (ISO)
dorsal/ventral pattern formation  (ISO,ISS)
embryonic limb morphogenesis  (ISO,ISS)
embryonic organ development  (ISO)
epidermal cell fate specification  (ISO)
epidermis development  (ISO)
epithelial cell proliferation  (ISO)
glucose homeostasis  (ISO)
heart morphogenesis  (ISO)
hindlimb morphogenesis  (ISO)
in utero embryonic development  (ISO)
keratinocyte proliferation  (ISO)
limb morphogenesis  (ISO)
liver regeneration  (IEP)
mammary gland development  (ISO)
mammary gland duct morphogenesis  (ISO)
mammary gland epithelial cell differentiation  (ISO)
metanephric collecting duct development  (ISO)
negative regulation of cell division  (ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of DNA-binding transcription factor activity  (ISO)
negative regulation of DNA-templated transcription  (ISO)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of keratinocyte proliferation  (ISO)
negative regulation of multicellular organism growth  (ISO,ISS)
negative regulation of osteoblast differentiation  (ISO)
negative regulation of smoothened signaling pathway  (IBA,ISO)
negative regulation of stem cell proliferation  (ISO)
negative regulation of transcription by RNA polymerase II  (ISO)
neural plate axis specification  (ISO)
neural tube closure  (ISO)
neural tube formation  (ISO)
neural tube patterning  (ISO)
pattern specification process  (ISO)
pharyngeal system development  (ISO)
positive regulation of cholesterol efflux  (ISO)
positive regulation of DNA-templated transcription  (ISO)
positive regulation of epidermal cell differentiation  (ISO)
prostate gland development  (IEP)
protein localization to plasma membrane  (ISO)
protein processing  (ISO,ISS)
regulation of cell population proliferation  (ISO)
regulation of growth  (ISO)
regulation of mitotic cell cycle  (ISO)
regulation of protein localization  (ISO)
regulation of smoothened signaling pathway  (ISS)
response to chlorate  (ISO)
response to estradiol  (IEP)
response to mechanical stimulus  (IEP)
response to organic cyclic compound  (IEP)
response to retinoic acid  (IEP)
response to xenobiotic stimulus  (IEP)
signal transduction  (ISO)
smooth muscle tissue development  (ISO)
smoothened signaling pathway  (ISO,ISS)
smoothened signaling pathway involved in dorsal/ventral neural tube patterning  (ISO)
somite development  (ISO)
spermatid development  (IEP)
spinal cord motor neuron differentiation  (ISO)
stem cell proliferation  (ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. Boutet N, etal., J Invest Dermatol. 2003 Sep;121(3):478-81.
2. Antiandrogen exposure in utero disrupts expression of desert hedgehog and insulin-like factor 3 in the developing fetal rat testis. Brokken LJ, etal., Endocrinology. 2009 Jan;150(1):445-51. Epub 2008 Sep 4.
3. The role of hedgehog signaling pathway in liver regeneration. Cai Y, etal., Hepatogastroenterology. 2011 Nov-Dec;58(112):2071-6. doi: 10.5754/hge11155.
4. Intrastriatal sonic hedgehog injection increases Patched transcript levels in the adult rat subventricular zone. Charytoniuk D, etal., Eur J Neurosci 2002 Dec;16(12):2351-7.
5. PTCH1 regulates anchorage-independent growth and bone invasion of non-small cell lung cancer cells. Choi JY, etal., Bone. 2021 Mar;144:115829. doi: 10.1016/j.bone.2020.115829. Epub 2020 Dec 29.
6. Hedgehog signaling update. Cohen MM, Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909.
7. Upregulation of Shh and Ptc1 in hyperoxia-induced acute lung injury in neonatal rats. Dang H, etal., Mol Med Rep. 2012 Aug;6(2):297-302. doi: 10.3892/mmr.2012.929. Epub 2012 May 28.
8. Methylation of PTCH1a gene in a subset of gastric cancers. Du P, etal., World J Gastroenterol. 2009 Aug 14;15(30):3799-806. doi: 10.3748/wjg.15.3799.
9. The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects. Feng W, etal., Genesis. 2013 Oct;51(10):677-89. doi: 10.1002/dvg.22416. Epub 2013 Aug 30.
10. Expression patterns and polymorphisms of PTCH in Chinese hepatocellular carcinoma patients. Fu X, etal., Exp Mol Pathol. 2008 Jun;84(3):195-9. doi: 10.1016/j.yexmp.2008.04.002. Epub 2008 May 2.
11. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
12. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
13. Blockade of the sonic hedgehog signalling pathway inhibits choroidal neovascularization in a laser-induced rat model. He H, etal., J Huazhong Univ Sci Technolog Med Sci. 2010 Oct;30(5):659-65. doi: 10.1007/s11596-010-0560-z. Epub 2010 Nov 10.
14. PTCH gene expression as a potential marker for esophageal squamous cell carcinoma. Ishiyama A, etal., Anticancer Res. 2006 Jan-Feb;26(1A):195-8.
15. High expression of patched homolog-1 messenger RNA and glioma-associated oncogene-1 messenger RNA of sonic hedgehog signaling pathway indicates a risk of postresection recurrence of hepatocellular carcinoma. Jeng KS, etal., Ann Surg Oncol. 2013 Feb;20(2):464-73. doi: 10.1245/s10434-012-2593-y. Epub 2012 Aug 22.
16. The expression of Hedgehog genes (Ihh, Dhh) and Hedgehog target genes (Ptc1, Gli1, Coup-TfII) is affected by estrogenic stimuli in the uterus of immature female rats. Katayama S, etal., Toxicol Appl Pharmacol. 2006 Dec 15;217(3):375-83. Epub 2006 Oct 6.
17. Sonic hedgehog regulates adult neural progenitor proliferation in vitro and in vivo. Lai K, etal., Nat Neurosci 2003 Jan;6(1):21-7.
18. Gastric cancer (GC) patients with hedgehog pathway activation: PTCH1 and GLI2 as independent prognostic factors. Lee SJ, etal., Target Oncol. 2013 Dec;8(4):271-80. doi: 10.1007/s11523-013-0253-1. Epub 2013 Feb 1.
19. Immunohistochemical evidence of the prognostic value of hedgehog pathway components in primary gallbladder carcinoma. Li J, etal., Surg Today. 2012 Aug;42(8):770-5. doi: 10.1007/s00595-012-0157-1. Epub 2012 Mar 10.
20. Expression of hedgehog signal pathway in articular cartilage is associated with the severity of cartilage damage in rats with adjuvant-induced arthritis. Li R, etal., J Inflamm (Lond). 2015 Mar 28;12:24. doi: 10.1186/s12950-015-0072-5. eCollection 2015.
21. The role of the sonic hedgehog signaling pathway in early brain injury after experimental subarachnoid hemorrhage in rats. Li T, etal., Neurosci Lett. 2013 Sep 27;552:81-6. doi: 10.1016/j.neulet.2013.07.042. Epub 2013 Aug 7.
22. Sonic Hedgehog Signaling Affected by Promoter Hypermethylation Induces Aberrant Gli2 Expression in Spina Bifida. Lu XL, etal., Mol Neurobiol. 2016 Oct;53(8):5413-24. doi: 10.1007/s12035-015-9447-0. Epub 2015 Oct 7.
23. Intrinsic facilitation of adult peripheral nerve regeneration by the Sonic hedgehog morphogen. Martinez JA, etal., Exp Neurol. 2015 Sep;271:493-505. doi: 10.1016/j.expneurol.2015.07.018. Epub 2015 Jul 22.
24. Attenuation of experimental autoimmune encephalomyelitis and nonimmune demyelination by IFN-beta plus vitamin B12: treatment to modify notch-1/sonic hedgehog balance. Mastronardi FG, etal., J Immunol. 2004 May 15;172(10):6418-26.
25. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
26. Frequent deregulations in the hedgehog signaling network and cross-talks with the epidermal growth factor receptor pathway involved in cancer progression and targeted therapies. Mimeault M and Batra SK, Pharmacol Rev. 2010 Sep;62(3):497-524.
27. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Ming JE, etal., Hum Genet. 2002 Apr;110(4):297-301. Epub 2002 Mar 2.
28. Distinct profile of HIF1α, PTCH, EphB2, or DNA repair protein expression and BRAF mutation in colorectal serrated adenoma. Morimoto T, etal., J Gastroenterol Hepatol. 2014 Jun;29(6):1192-9. doi: 10.1111/jgh.12553.
29. Biomechanical regulation of hedgehog signaling in vascular smooth muscle cells in vitro and in vivo. Morrow D, etal., Am J Physiol Cell Physiol. 2007 Jan;292(1):C488-96. Epub 2006 Aug 30.
30. Hedgehog signalling promotes germ cell survival in the rat testis. Mäkelä JA, etal., Reproduction. 2011 Nov;142(5):711-21. doi: 10.1530/REP-11-0110. Epub 2011 Sep 5.
31. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
32. PTC gene mutations and expression of SHH, PTC, SMO, and GLI-1 in odontogenic keratocysts. Ohki K, etal., Int J Oral Maxillofac Surg. 2004 Sep;33(6):584-92.
33. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
34. Sonic hedgehog induces response of commissural axons to Semaphorin repulsion during midline crossing. Parra LM and Zou Y, Nat Neurosci. 2010 Jan;13(1):29-35. doi: 10.1038/nn.2457. Epub 2009 Nov 29.
35. Aberrant methylation of the PTCH1 gene promoter region in aberrant crypt foci. Peng L, etal., Int J Cancer. 2013 Jan 15;132(2):E18-25. doi: 10.1002/ijc.27812. Epub 2012 Sep 21.
36. Subcellular localization of patched and smoothened, the receptors for sonic hedgehog signaling, in the hippocampal neuron. Petralia RS, etal., J Comp Neurol. 2011 Dec 15;519(18):3684-99. doi: 10.1002/cne.22681.
37. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
38. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
39. Sonic hedgehog-patched Gli signaling in the developing rat prostate gland: lobe-specific suppression by neonatal estrogens reduces ductal growth and branching. Pu Y, etal., Dev Biol 2004 Sep 15;273(2):257-75.
40. GOA pipeline RGD automated data pipeline
41. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
42. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
43. Comprehensive gene review and curation RGD comprehensive gene curation
44. PTCH1 mutation is a frequent event in oesophageal basaloid squamous cell carcinoma. Saito T, etal., Mutagenesis. 2015 Mar;30(2):297-301. doi: 10.1093/mutage/geu072. Epub 2014 Nov 13.
45. Activation of the sonic hedgehog pathway and its prognostic impact in patients with gastric cancer. Saze Z, etal., Dig Surg. 2012;29(2):115-23. doi: 10.1159/000336949. Epub 2012 Mar 27.
46. Aberrant expression of PTCH (patched gene) and Smo (smoothened gene) in human pancreatic cancerous tissues and its association with hyperglycemia. Shao J, etal., Pancreas. 2006 Jul;33(1):38-44.
47. Altered expression of PTCH and HHIP in gastric cancer through their gene promoter methylation: novel targets for gastric cancer. Song Y, etal., Mol Med Rep. 2013 Apr;7(4):1159-68. doi: 10.3892/mmr.2013.1333. Epub 2013 Feb 21.
48. Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. Takahashi C, etal., J Hum Genet. 2009 Jul;54(7):403-8. doi: 10.1038/jhg.2009.55. Epub 2009 Jun 26.
49. Expression of sonic hedgehog signal transducers, patched and smoothened, in human basal cell carcinoma. Tojo M, etal., Pathol Int. 1999 Aug;49(8):687-94.
50. Chronically administered retinoic acid has trophic effects in the rat small intestine and promotes adaptation in a resection model of short bowel syndrome. Wang L, etal., Am J Physiol Gastrointest Liver Physiol. 2007 Jun;292(6):G1559-69. Epub 2007 Feb 15.
51. Sonic hedgehog expression in a rat model of chronic pancreatitis. Wang LW, etal., World J Gastroenterol. 2014 Apr 28;20(16):4712-7. doi: 10.3748/wjg.v20.i16.4712.
52. Activating Smoothened mutations in sporadic basal-cell carcinoma. Xie J, etal., Nature 1998 Jan 1;391(6662):90-2.
53. Expression and regulation of hedgehog signaling pathway in pancreatic cancer. Yang Y, etal., Langenbecks Arch Surg. 2009 Apr 25.
54. Expressions of sonic hedgehog, patched, smoothened and Gli-1 in human intestinal stromal tumors and their correlation with prognosis. Yoshizaki A, etal., World J Gastroenterol. 2006 Sep 21;12(35):5687-91. doi: 10.3748/wjg.v12.i35.5687.
55. PTCH1, a receptor of Hedgehog signaling pathway, is correlated with metastatic potential of colorectal cancer. You S, etal., Ups J Med Sci. 2010 Aug;115(3):169-75. doi: 10.3109/03009731003668316.
56. Aberrant activation of hedgehog pathway in nasopharyngeal carcinoma. Yue Y, etal., Clin Exp Med. 2013 Nov;13(4):315-22. doi: 10.1007/s10238-012-0198-1. Epub 2012 Jul 20.
57. A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome. Zhang T, etal., Biochem Biophys Res Commun. 2011 Jun 3;409(2):166-70. doi: 10.1016/j.bbrc.2011.04.047. Epub 2011 Apr 13.
58. Association of copy number loss of CDKN2B and PTCH1 with poor overall survival in patients with pulmonary squamous cell carcinoma. Zhao Y, etal., Clin Lung Cancer. 2011 Sep;12(5):328-34. doi: 10.1016/j.cllc.2011.02.007.
59. Time-point and dosage of gene inactivation determine the tumor spectrum in conditional Ptch knockouts. Zibat A, etal., Carcinogenesis. 2009 Jun;30(6):918-26. doi: 10.1093/carcin/bgp068. Epub 2009 Mar 25.
Additional References at PubMed
PMID:8681379   PMID:8981943   PMID:9006067   PMID:9262482   PMID:9811851   PMID:10500113   PMID:10529434   PMID:11044404   PMID:11278759   PMID:11331587   PMID:11389830   PMID:11476578  
PMID:11493558   PMID:11517919   PMID:11784021   PMID:12635140   PMID:12917290   PMID:15166316   PMID:15576403   PMID:16061793   PMID:16229683   PMID:16489008   PMID:17631878   PMID:17850284  
PMID:19004860   PMID:19654211   PMID:19684112   PMID:19809516   PMID:21110116   PMID:21406566   PMID:21552265   PMID:21931618   PMID:22133807   PMID:22477363   PMID:23333245   PMID:24062445  
PMID:24302887   PMID:24492243   PMID:24548465   PMID:28573530   PMID:29244790   PMID:30114436   PMID:30306574   PMID:30502245   PMID:33506921   PMID:33994522   PMID:34287088  


Genomics

Comparative Map Data
Ptch1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2171,542,705 - 1,607,730 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl171,542,877 - 1,607,333 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx171,561,414 - 1,626,441 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0173,104,008 - 3,169,034 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0171,558,861 - 1,623,889 (+)NCBIRnor_WKY
Rnor_6.0171,032,242 - 1,085,885 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl171,029,048 - 1,093,873 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0171,025,798 - 1,079,561 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,088,234 - 7,142,459 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera17917,710 - 971,638 (-)NCBICelera
Cytogenetic Map17p14NCBI
PTCH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38995,442,980 - 95,516,971 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl995,442,980 - 95,517,057 (-)EnsemblGRCh38hg38GRCh38
GRCh37998,205,262 - 98,279,253 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36997,245,085 - 97,319,068 (-)NCBINCBI36Build 36hg18NCBI36
Build 34995,285,954 - 95,350,386NCBI
Celera968,646,306 - 68,719,962 (-)NCBICelera
Cytogenetic Map9q22.32NCBI
HuRef967,814,741 - 67,888,045 (-)NCBIHuRef
CHM1_1998,351,712 - 98,425,709 (-)NCBICHM1_1
T2T-CHM13v2.09107,612,621 - 107,686,610 (-)NCBIT2T-CHM13v2.0
Ptch1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391363,656,142 - 63,721,274 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1363,656,142 - 63,721,412 (-)EnsemblGRCm39 Ensembl
GRCm381363,508,328 - 63,573,460 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1363,508,328 - 63,573,598 (-)EnsemblGRCm38mm10GRCm38
MGSCv371363,612,841 - 63,666,828 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361363,520,755 - 63,574,742 (-)NCBIMGSCv36mm8
Celera1365,162,237 - 65,216,237 (-)NCBICelera
Cytogenetic Map13B3NCBI
cM Map1332.8NCBI
Ptch1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542222,362,221 - 22,427,622 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542222,362,330 - 22,418,062 (-)NCBIChiLan1.0ChiLan1.0
PTCH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1994,668,792 - 94,741,517 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl994,668,365 - 94,741,453 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0966,542,675 - 66,616,820 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PTCH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1171,246,750 - 71,309,036 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl171,238,195 - 71,305,662 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha172,001,309 - 72,071,860 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0171,542,960 - 71,613,625 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl171,542,581 - 71,613,625 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1171,355,076 - 71,425,574 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0171,118,402 - 71,189,186 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0171,824,991 - 71,895,587 (+)NCBIUU_Cfam_GSD_1.0
Ptch1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049445,013,677 - 5,072,720 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366264,241,908 - 4,309,476 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049366264,241,993 - 4,301,919 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTCH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1026,627,425 - 26,703,223 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11026,627,165 - 26,703,225 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21030,839,486 - 30,915,228 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103219825
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112107,580,895 - 107,656,443 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl12107,590,663 - 107,652,985 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366670535 - 26,483 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptch1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475316,935,251 - 16,995,389 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475316,929,503 - 16,995,255 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Ptch1
45 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:127
Count of miRNA genes:101
Interacting mature miRNAs:111
Transcripts:ENSRNOT00000026287
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
9590316Scort21Serum corticosterone level QTL 214.750.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)17122871563Rat
10401807Kidm52Kidney mass QTL 52kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)17131701463Rat
70184BpQTLcluster14Blood pressure QTL cluster 143.38arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)17131990913Rat
631207Niddm41Non-insulin dependent diabetes mellitus QTL 41blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)17137830672Rat
1354658Spl8Serum phospholipid level QTL 83.8blood VLDL phospholipid amount (VT:0010507)blood very low density lipoprotein phospholipid level (CMO:0001571)17160781592Rat
1354581Bp247Blood pressure QTL 2474.5arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)17169599340Rat
1354662Rf49Renal function QTL 492.9blood creatinine amount (VT:0005328)plasma creatinine level (CMO:0000537)17169599340Rat

Markers in Region
BF387421  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2171,556,951 - 1,557,102 (-)MAPPERmRatBN7.2
Rnor_6.0171,079,356 - 1,079,506NCBIRnor6.0
Rnor_5.0171,073,032 - 1,073,182UniSTSRnor5.0
RGSC_v3.4177,094,613 - 7,094,763UniSTSRGSC3.4
Celera17965,324 - 965,474UniSTS
RH 3.4 Map1716.0UniSTS
Cytogenetic Map17p14UniSTS
BF404235  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2171,556,855 - 1,557,071 (-)MAPPERmRatBN7.2
Rnor_6.0171,079,387 - 1,079,602NCBIRnor6.0
Rnor_5.0171,073,063 - 1,073,278UniSTSRnor5.0
RGSC_v3.4177,094,517 - 7,094,732UniSTSRGSC3.4
Celera17965,355 - 965,570UniSTS
RH 3.4 Map175.1UniSTS
Cytogenetic Map17p14UniSTS
UniSTS:465490  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2171,604,206 - 1,604,507 (-)MAPPERmRatBN7.2
Rnor_6.0171,032,465 - 1,032,765NCBIRnor6.0
Rnor_5.0171,026,021 - 1,026,321UniSTSRnor5.0
RGSC_v3.4177,141,934 - 7,142,234UniSTSRGSC3.4
Celera17917,933 - 918,233UniSTS
Cytogenetic Map17p14UniSTS
Ptch1  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2171,551,597 - 1,552,461 (-)MAPPERmRatBN7.2
Rnor_6.0171,083,996 - 1,084,859NCBIRnor6.0
Rnor_5.0171,077,672 - 1,078,535UniSTSRnor5.0
RGSC_v3.4177,089,260 - 7,090,123UniSTSRGSC3.4
Celera17969,749 - 970,612UniSTS
Cytogenetic Map17p14UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 1 8 11 6 6 74 29 31 11
Low 2 35 46 35 19 35 8 11 6 10 8
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000026287   ⟹   ENSRNOP00000026287
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl171,550,385 - 1,607,333 (+)Ensembl
Rnor_6.0 Ensembl171,032,240 - 1,085,885 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000086130   ⟹   ENSRNOP00000069422
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl171,542,877 - 1,607,333 (+)Ensembl
Rnor_6.0 Ensembl171,029,048 - 1,093,873 (-)Ensembl
RefSeq Acc Id: NM_001389256   ⟹   NP_001376185
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2171,542,705 - 1,607,730 (+)NCBI
RefSeq Acc Id: NM_053566   ⟹   NP_446018
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2171,549,824 - 1,607,730 (+)NCBI
Rnor_6.0171,032,242 - 1,085,885 (-)NCBI
Rnor_5.0171,025,798 - 1,079,561 (-)NCBI
RGSC_v3.4177,088,234 - 7,142,459 (+)RGD
Celera17917,710 - 971,638 (-)NCBI
Sequence:
RefSeq Acc Id: XM_039096134   ⟹   XP_038952062
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2171,552,506 - 1,607,730 (+)NCBI
RefSeq Acc Id: XM_039096135   ⟹   XP_038952063
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2171,552,505 - 1,607,730 (+)NCBI
RefSeq Acc Id: XM_039096136   ⟹   XP_038952064
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2171,550,276 - 1,604,732 (+)NCBI
RefSeq Acc Id: XM_039096137   ⟹   XP_038952065
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2171,551,312 - 1,604,732 (+)NCBI
RefSeq Acc Id: XM_039096138   ⟹   XP_038952066
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2171,578,960 - 1,607,730 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_446018   ⟸   NM_053566
- Peptide Label: isoform 1
- UniProtKB: Q6UY90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000026287   ⟸   ENSRNOT00000026287
RefSeq Acc Id: ENSRNOP00000069422   ⟸   ENSRNOT00000086130
RefSeq Acc Id: NP_001376185   ⟸   NM_001389256
- Peptide Label: isoform 2
- UniProtKB: A0A0G2JVB8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038952064   ⟸   XM_039096136
- Peptide Label: isoform X3
RefSeq Acc Id: XP_038952065   ⟸   XM_039096137
- Peptide Label: isoform X4
RefSeq Acc Id: XP_038952063   ⟸   XM_039096135
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038952062   ⟸   XM_039096134
- Peptide Label: isoform X1
RefSeq Acc Id: XP_038952066   ⟸   XM_039096138
- Peptide Label: isoform X5
Protein Domains
SSD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6UY90-F1-model_v2 AlphaFold Q6UY90 1-1434 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:621425 AgrOrtholog
BioCyc Gene G2FUF-10530 BioCyc
Ensembl Genes ENSRNOG00000019354 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000026287 ENTREZGENE
  ENSRNOP00000026287.5 UniProtKB/TrEMBL
  ENSRNOP00000069422 ENTREZGENE
  ENSRNOP00000069422.1 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000026287 ENTREZGENE
  ENSRNOT00000026287.6 UniProtKB/TrEMBL
  ENSRNOT00000086130 ENTREZGENE
  ENSRNOT00000086130.2 UniProtKB/TrEMBL
InterPro Patched UniProtKB/TrEMBL
  SSD_5TM UniProtKB/TrEMBL
  TM_rcpt_patched UniProtKB/TrEMBL
NCBI Gene 89830 ENTREZGENE
Pfam Patched UniProtKB/TrEMBL
  Sterol-sensing UniProtKB/TrEMBL
PhenoGen Ptch1 PhenoGen
PROSITE SSD UniProtKB/TrEMBL
TIGRFAMs 2A060602 UniProtKB/TrEMBL
UniProt A0A0G2JVB8 ENTREZGENE, UniProtKB/TrEMBL
  Q6UY90 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-02 Ptch1  patched 1  Ptch1  patched homolog 1 (Drosophila)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-02-23 Ptch1  patched homolog 1 (Drosophila)  Ptch2_predicted  patched homolog 2 (Drosophila) (predicted)  Data Merged 737654 APPROVED
2005-01-20 Ptch1  patched homolog 1 (Drosophila)  Ptch  patched (Drosophila) homolog  Symbol and Name updated 1299863 APPROVED
2005-01-12 Ptch2_predicted  patched homolog 2 (Drosophila) (predicted)      Symbol and Name status set to provisional 70820 PROVISIONAL
2002-08-07 Ptch  patched (Drosophila) homolog      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_disease human homolog is mutated in some patients with basal-cell nevus syndrome 704355
gene_other gene may be present in 10-14 copies 704355