Ptch1 (patched 1) - Rat Genome Database

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Gene: Ptch1 (patched 1) Mus musculus
Analyze
Symbol: Ptch1
Name: patched 1
RGD ID: 1319157
MGI Page MGI
Description: Enables cyclin binding activity; heparin binding activity; and patched binding activity. Involved in several processes, including cellular response to cholesterol; chordate embryonic development; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including chordate embryonic development; epithelial tube morphogenesis; and limb morphogenesis. Located in cilium; midbody; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and limb. Used to study basal cell carcinoma; medulloblastoma; and nevoid basal cell carcinoma syndrome. Human ortholog(s) of this gene implicated in carcinoma (multiple); holoprosencephaly (multiple); nevoid basal cell carcinoma syndrome (multiple); and stomach cancer. Orthologous to human PTCH1 (patched 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: A230106A15Rik; mes; mesenchymal dysplasia; patched homolog 1; protein patched homolog 1; Pt; Ptc; Ptc1; Ptch; Ptch1 protein +12b; wi; wig
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Aberrant Crypt Foci  (ISO)
acute myeloid leukemia  (ISO)
anterior segment dysgenesis 5  (ISO)
autism spectrum disorder  (ISO)
Axenfeld-Rieger syndrome  (ISO)
basal cell carcinoma  (IAGP,IMP,ISO)
basaloid squamous cell carcinoma  (ISO)
Brain Neoplasms  (ISO)
breast carcinoma  (ISO)
Cardiovascular Abnormalities  (ISO)
cataract  (ISO)
Choroidal Neovascularization  (ISO)
Chronic Experimental Pancreatitis  (ISO)
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  (IEP)
Disproportionate Tall Stature  (ISO)
esophagus squamous cell carcinoma  (ISO)
Experimental Arthritis  (ISO)
familial male-limited precocious puberty  (ISO)
Fanconi anemia  (ISO)
focal dermal hypoplasia  (ISO)
Fraser syndrome 3  (ISO)
gallbladder carcinoma  (ISO)
Gastrointestinal Neoplasms  (IMP)
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  (ISO)
intellectual disability  (ISO)
lung adenocarcinoma  (ISO)
lung squamous cell carcinoma  (ISO)
Macrocephaly  (ISO)
medulloblastoma  (IAGP,IMP,ISO)
microphthalmia  (ISO)
Multiple Basal Cell Carcinoma  (ISO)
myopia  (ISO)
nasopharyngitis  (ISO)
Neoplasm Metastasis  (ISO)
neuroblastoma  (ISO)
nevoid basal cell carcinoma syndrome  (IAGP,IMP,ISO)
nevoid basal cell carcinoma syndrome 1  (ISO)
omphalocele  (ISO)
ovarian cancer  (ISO)
pancreatic cancer  (ISO)
Patterson Stevenson Syndrome  (ISO)
Peters anomaly  (ISO)
Pituitary Stalk Interruption Syndrome  (ISO)
Postaxial Polydactyly  (ISO)
Preaxial Polydactyly II  (ISO)
Precocious Puberty  (ISO)
Primitive Neuroectodermal Tumors  (ISO)
retinoblastoma  (ISO)
rhabdomyosarcoma  (IMP,ISO)
Skin Neoplasms  (ISO)
spina bifida  (ISO)
stomach cancer  (ISO)
Subarachnoid Hemorrhage  (ISO)
syndromic microphthalmia 5  (ISO)
Turner syndrome  (ISO)
uterine fibroid  (ISO)

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

Gene Ontology Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal apoptosis  (IAGP)
abnormal basicranium morphology  (IAGP)
abnormal basisphenoid bone morphology  (IAGP)
abnormal bone mineralization  (IAGP)
abnormal bone ossification  (IAGP)
abnormal brain development  (IAGP)
abnormal branching involved in pancreas development  (IAGP)
abnormal cerebellar foliation  (IAGP)
abnormal cerebellar molecular layer  (IAGP)
abnormal cerebellum development  (IAGP)
abnormal cerebellum external granule cell layer morphology  (IAGP)
abnormal cerebellum morphology  (IAGP)
abnormal cranial ganglia morphology  (IAGP)
abnormal craniofacial morphology  (IAGP)
abnormal cranium morphology  (IAGP)
abnormal diencephalon morphology  (IAGP)
abnormal double-negative T cell morphology  (IAGP)
abnormal elbow joint morphology  (IAGP)
abnormal embryo development  (IAGP)
abnormal enamel morphology  (IAGP)
abnormal foot pad morphology  (IAGP)
abnormal frontal bone morphology  (IAGP)
abnormal geniculate ganglion morphology  (IAGP)
abnormal glossopharyngeal ganglion morphology  (IAGP)
abnormal head morphology  (IAGP)
abnormal heart development  (IAGP)
abnormal hematopoietic system morphology/development  (IAGP)
abnormal interparietal bone morphology  (IAGP)
abnormal intestine morphology  (IAGP)
abnormal intramembranous bone ossification  (IAGP)
abnormal kidney collecting duct morphology  (IAGP)
abnormal kidney morphology  (IAGP)
abnormal kidney pelvis morphology  (IAGP)
abnormal lambdoid suture morphology  (IAGP)
abnormal long bone hypertrophic chondrocyte zone  (IAGP)
abnormal mandibular prominence morphology  (IAGP)
abnormal maxillary prominence morphology  (IAGP)
abnormal nasal placode morphology  (IAGP)
abnormal nervous system morphology  (IAGP)
abnormal neural plate morphology  (IAGP)
abnormal neural tube closure  (IAGP)
abnormal neural tube morphology  (IAGP)
abnormal neurocranium morphology  (IAGP)
abnormal neuron differentiation  (IAGP)
abnormal neuronal precursor cell number  (IAGP)
abnormal neuronal precursor proliferation  (IAGP)
abnormal osteoblast differentiation  (IAGP)
abnormal palatal shelf bone ossification  (IAGP)
abnormal pancreas development  (IAGP)
abnormal parietal bone morphology  (IAGP)
abnormal perichondrium morphology  (IAGP)
abnormal pulmonary alveolar duct morphology  (IAGP)
abnormal rhombic lip morphology  (IAGP)
abnormal rib morphology  (IAGP)
abnormal skeleton morphology  (IEA)
abnormal spermatogenesis  (IAGP)
abnormal spinal cord morphology  (IAGP)
abnormal sternum manubrium morphology  (IAGP)
abnormal sternum morphology  (IAGP)
abnormal stomach glandular epithelium morphology  (IAGP)
abnormal telencephalon development  (IAGP)
abnormal tendon morphology  (IEA)
abnormal thoracic cavity morphology  (IAGP)
abnormal thymus lobule morphology  (IAGP)
abnormal trigeminal ganglion morphology  (IAGP)
abnormal upper incisor morphology  (IAGP)
abnormal vascular development  (IAGP)
abnormal ventral interneuron 3 morphology  (IAGP)
abnormal vestibulocochlear ganglion morphology  (IAGP)
abnormal xiphoid process morphology  (IAGP)
absent forebrain  (IAGP)
absent fourth pharyngeal arch  (IAGP)
absent optic vesicle  (IAGP)
absent palatal shelf  (IAGP)
absent presphenoid bone  (IAGP)
absent third pharyngeal arch  (IAGP)
alisphenoid bone hypoplasia  (IAGP)
anophthalmia  (IAGP)
arrested osteoblast differentiation  (IAGP)
asymmetric sternocostal joints  (IAGP)
ataxia  (IAGP)
belly spot  (IEA)
cleft secondary palate  (IAGP)
craniorachischisis  (IAGP)
cryptorchism  (IEA)
decreased B cell number  (IAGP)
decreased bone mineralization  (IAGP)
decreased cerebellar granule cell precursor proliferation  (IAGP)
decreased circulating insulin-like growth factor I level  (IAGP)
decreased classified tumor incidence  (IAGP)
decreased double-positive T cell number  (IAGP)
decreased embryo size  (IAGP)
decreased fear-related response  (IAGP)
decreased immature B cell number  (IAGP)
decreased length of long bones  (IAGP)
decreased lymphocyte cell number  (IAGP)
decreased pre-B cell number  (IAGP)
decreased rib number  (IAGP)
decreased transitional stage B cell number  (IAGP)
decreased tumor growth/size  (IAGP)
decreased tumor latency  (IAGP)
decreased tumor-free survival time  (IAGP)
delayed endochondral bone ossification  (IAGP)
dermal cyst  (IAGP)
dermal hyperplasia  (IAGP)
domed cranium  (IAGP)
embryonic growth arrest  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
embryonic lethality during organogenesis, incomplete penetrance  (IAGP)
embryonic lethality prior to organogenesis  (IAGP)
embryonic lethality, complete penetrance  (IAGP)
enlarged cerebellum  (IAGP)
enlarged first pharyngeal arch  (IAGP)
enlarged floor plate  (IAGP)
epidermal cyst  (IAGP)
exencephaly  (IAGP)
female infertility  (IEA)
focal hair loss  (IAGP)
fused synovial joints  (IAGP)
holoprosencephaly  (IAGP)
hydrocephaly  (IAGP)
incomplete rostral neuropore closure  (IAGP)
increased B cell number  (IAGP)
increased basal cell carcinoma incidence  (IAGP)
increased body size  (IAGP)
increased chondrocyte proliferation  (IAGP)
increased double-negative T cell number  (IAGP)
increased embryo size  (IAGP)
increased fetal size  (IAGP)
increased fibroma incidence  (IAGP)
increased gastrointestinal tumor incidence  (IAGP)
increased hemangiosarcoma incidence  (IAGP)
increased incidence of tumors by ionizing radiation induction  (IAGP)
increased incidence of tumors by UV-induction  (IAGP)
increased lymphoma incidence  (IAGP)
increased mature B cell number  (IAGP)
increased medulloblastoma incidence  (IAGP)
increased metastatic potential  (IAGP)
increased mortality induced by ionizing radiation  (IAGP)
increased motor neuron number  (IAGP)
increased neuronal precursor cell number  (IAGP)
increased neutrophil cell number  (IAGP)
increased osteosarcoma incidence  (IAGP)
increased rhabdomyosarcoma incidence  (IAGP)
increased single-positive T cell number  (IAGP)
increased skin tumor incidence  (IAGP)
increased testicular teratoma incidence  (IAGP)
increased tumor incidence  (IAGP)
increased tumor latency  (IAGP)
increased tumor-free survival time  (IAGP)
infertility  (IAGP)
kidney cyst  (IAGP)
kinked tail  (IAGP)
kyphosis  (IAGP)
lethality throughout fetal growth and development, incomplete penetrance  (IAGP)
male infertility  (IEA)
mandibular coronoid process hypoplasia  (IAGP)
mandibular cyst  (IAGP)
no abnormal phenotype detected  (IAGP)
ocular hypertelorism  (IEA)
omphalocele  (IAGP)
open neural tube  (IAGP)
palatal shelf hypoplasia  (IAGP)
paralysis  (IAGP)
polydactyly  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
preaxial polydactyly  (IAGP)
premature death  (IAGP)
prenatal lethality  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
scapular bone foramen  (IAGP)
short mandibular coronoid process  (IAGP)
short tail  (IEA)
shortened head  (IEA)
skin lesions  (IAGP)
small basisphenoid bone  (IAGP)
small first pharyngeal arch  (IAGP)
small lung  (IAGP)
small male preputial gland  (IAGP)
small otic vesicle  (IAGP)
small second pharyngeal arch  (IAGP)
small seminal vesicle  (IAGP)
spina bifida  (IAGP)
syndactyly  (IAGP)
telangiectasia  (IAGP)
thick tail  (IAGP)
thymus hypoplasia  (IAGP)
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. 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.
3. Hedgehog signaling update. Cohen MM, Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. PTCH gene expression as a potential marker for esophageal squamous cell carcinoma. Ishiyama A, etal., Anticancer Res. 2006 Jan-Feb;26(1A):195-8.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. MGDs mouse GO annotations MGD data from the GO Consortium
18. MGD IEA MGD IEA
19. 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.
20. 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.
21. 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.
22. 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.
23. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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25. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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PMID:24000064   PMID:24009529   PMID:24014668   PMID:24016759   PMID:24062445   PMID:24067506   PMID:24076664   PMID:24092238   PMID:24092639   PMID:24130328   PMID:24135228   PMID:24141309  
PMID:24141783   PMID:24161523   PMID:24161848   PMID:24167280   PMID:24191021   PMID:24218595   PMID:24244464   PMID:24252690   PMID:24302887   PMID:24318810   PMID:24332809   PMID:24370450  
PMID:24415953   PMID:24491816   PMID:24492243   PMID:24528677   PMID:24548465   PMID:24553180   PMID:24570001   PMID:24590292   PMID:24631180   PMID:24659776   PMID:24662765   PMID:24684846  
PMID:24691432   PMID:24697898   PMID:24706806   PMID:24715461   PMID:24726282   PMID:24726283   PMID:24757136   PMID:24769368   PMID:24780629   PMID:24803588   PMID:24805933   PMID:24823376  
PMID:24847876   PMID:24852369   PMID:24853502   PMID:24886827   PMID:24925320   PMID:24928431   PMID:24930703   PMID:24946904   PMID:24948802   PMID:24949938   PMID:24952961   PMID:24954133  
PMID:24973920   PMID:24983448   PMID:24990742   PMID:24990743   PMID:24994715   PMID:25027328   PMID:25053435   PMID:25063195   PMID:25083987   PMID:25085974   PMID:25117422   PMID:25127126  
PMID:25139858   PMID:25150496   PMID:25164012   PMID:25175806   PMID:25176648   PMID:25224227   PMID:25231763   PMID:25241898   PMID:25249461   PMID:25254344   PMID:25255084   PMID:25263791  
PMID:25268479   PMID:25292199   PMID:25294941   PMID:25299669   PMID:25356765   PMID:25370275   PMID:25376721   PMID:25391241   PMID:25398052   PMID:25446516   PMID:25446537   PMID:25448692  
PMID:25452120   PMID:25458012   PMID:25476449   PMID:25499213   PMID:25511459   PMID:25528224   PMID:25531316   PMID:25540129   PMID:25581370   PMID:25609427   PMID:25626636   PMID:25631042  
PMID:25631876   PMID:25639508   PMID:25639612   PMID:25652406   PMID:25774014   PMID:25775517   PMID:25799573   PMID:25808752   PMID:25816987   PMID:25820239   PMID:25823816   PMID:25833741  
PMID:25834022   PMID:25842978   PMID:25848030   PMID:25871385   PMID:25885794   PMID:25901736   PMID:25936505   PMID:25995356   PMID:26001200   PMID:26023097   PMID:26035863   PMID:26038600  
PMID:26057579   PMID:26067104   PMID:26081573   PMID:26091048   PMID:26094741   PMID:26095047   PMID:26100903   PMID:26116392   PMID:26130651   PMID:26138476   PMID:26141512   PMID:26156498  
PMID:26192445   PMID:26219237   PMID:26235626   PMID:26238476   PMID:26241389   PMID:26269506   PMID:26319366   PMID:26329601   PMID:26363008   PMID:26387942   PMID:26413810   PMID:26439398  
PMID:26450968   PMID:26457609   PMID:26509735   PMID:26555052   PMID:26685326   PMID:26697723   PMID:26702830   PMID:26721501   PMID:26745863   PMID:26760213   PMID:26766587   PMID:26773048  
PMID:26794256   PMID:26795843   PMID:26834157   PMID:26869039   PMID:26884322   PMID:26930157   PMID:26932670   PMID:26935062   PMID:26952977   PMID:26959361   PMID:26967474   PMID:26997276  
PMID:27018594   PMID:27046536   PMID:27050100   PMID:27109116   PMID:27122169   PMID:27146892   PMID:27162362   PMID:27178982   PMID:27181404   PMID:27299863   PMID:27320915   PMID:27325696  
PMID:27340223   PMID:27352137   PMID:27362800   PMID:27414999   PMID:27459053   PMID:27466187   PMID:27492255   PMID:27496710   PMID:27498049   PMID:27528504   PMID:27552050   PMID:27626168  
PMID:27633995   PMID:27647915   PMID:27720610   PMID:27736991   PMID:27740628   PMID:27741240   PMID:27770010   PMID:27798109   PMID:27802276   PMID:27811357   PMID:27815529   PMID:27823583  
PMID:27827819   PMID:27849569   PMID:27892540   PMID:27930311   PMID:27998989   PMID:28018222   PMID:28027321   PMID:28031476   PMID:28036337   PMID:28049658   PMID:28052872   PMID:28069742  
PMID:28069795   PMID:28100039   PMID:28127049   PMID:28131983   PMID:28154153   PMID:28195124   PMID:28202523   PMID:28263766   PMID:28263978   PMID:28275010   PMID:28323616   PMID:28344083  
PMID:28379358   PMID:28380258   PMID:28390897   PMID:28412462   PMID:28432216   PMID:28490013   PMID:28527696   PMID:28530676   PMID:28533268   PMID:28560839   PMID:28630165   PMID:28669819  
PMID:28673820   PMID:28688895   PMID:28696225   PMID:28709001   PMID:28714964   PMID:28715412   PMID:28771384   PMID:28774592   PMID:28781964   PMID:28793255   PMID:28793263   PMID:28794157  
PMID:28797033   PMID:28799057   PMID:28800946   PMID:28807898   PMID:28846100   PMID:28859094   PMID:28882402   PMID:28891097   PMID:28939119   PMID:28941984   PMID:28943241   PMID:28986380  
PMID:29031500   PMID:29078327   PMID:29079783   PMID:29103956   PMID:29109083   PMID:29118110   PMID:29139542   PMID:29168693   PMID:29202464   PMID:29222391   PMID:29244023   PMID:29254138  
PMID:29287114   PMID:29292497   PMID:29311969   PMID:29378965   PMID:29386106   PMID:29394901   PMID:29395868   PMID:29474906   PMID:29487109   PMID:29487191   PMID:29532549   PMID:29538458  
PMID:29545125   PMID:29571613   PMID:29659575   PMID:29700203   PMID:29725084   PMID:29768039   PMID:29771958   PMID:29869132   PMID:29875149   PMID:29875630   PMID:29894688   PMID:29899135  
PMID:29983323   PMID:29987839   PMID:29999500   PMID:30044992   PMID:30111653   PMID:30134070   PMID:30144507   PMID:30153454   PMID:30166346   PMID:30177510   PMID:30236923   PMID:30250269  
PMID:30256984   PMID:30291846   PMID:30292786   PMID:30297799   PMID:30340023   PMID:30352686   PMID:30452905   PMID:30478225   PMID:30487124   PMID:30503211   PMID:30541888   PMID:30554998  
PMID:30575813   PMID:30595533   PMID:30606609   PMID:30630826   PMID:30638444   PMID:30659230   PMID:30683671   PMID:30685387   PMID:30692221   PMID:30695697   PMID:30814516   PMID:30833624  
PMID:30841515   PMID:30843579   PMID:30854720   PMID:30914320   PMID:30916783   PMID:30931988   PMID:31116975   PMID:31145830   PMID:31167144   PMID:31226309   PMID:31265437   PMID:31291587  
PMID:31300449   PMID:31301300   PMID:31373354   PMID:31474569   PMID:31482846   PMID:31486675   PMID:31506465   PMID:31594641   PMID:31604927   PMID:31634536   PMID:31638440   PMID:31719045  
PMID:31733190   PMID:31756413   PMID:31845891   PMID:31851932   PMID:31867038   PMID:31873117   PMID:31887266   PMID:31896583   PMID:31924815   PMID:31940751   PMID:31964774   PMID:31983537  
PMID:31987884   PMID:32001436   PMID:32049007   PMID:32078657   PMID:32097463   PMID:32112900   PMID:32113901   PMID:32155439   PMID:32178760   PMID:32183943   PMID:32234482   PMID:32268095  
PMID:32290615   PMID:32294450   PMID:32317081   PMID:32332736   PMID:32376680   PMID:32392211   PMID:32450229   PMID:32492418   PMID:32497091   PMID:32515350   PMID:32553121   PMID:32561646  
PMID:32579914   PMID:32615027   PMID:32616504   PMID:32645357   PMID:32664967   PMID:32702291   PMID:32715478   PMID:32737167   PMID:32747435   PMID:32758357   PMID:32820036   PMID:32848868  
PMID:32882513   PMID:32938678   PMID:32945847   PMID:33006313   PMID:33082319   PMID:33382037   PMID:33526656   PMID:33530552   PMID:33560225   PMID:33561442   PMID:33634122   PMID:33637728  
PMID:33789113   PMID:33795231   PMID:33869166   PMID:33976373   PMID:34027893   PMID:34046685   PMID:34099102   PMID:34140513   PMID:34321664   PMID:34339499   PMID:34346313   PMID:34348145  
PMID:34353359   PMID:34419491   PMID:34423857   PMID:34446743   PMID:34486668   PMID:34672258   PMID:34673573   PMID:34752747   PMID:34767969   PMID:34796774   PMID:34822715   PMID:34830484  
PMID:34880220   PMID:34887903   PMID:34893605   PMID:34928956   PMID:34929174   PMID:34948179   PMID:35020897   PMID:35084365   PMID:35103284   PMID:35112129   PMID:35140200   PMID:35145123  
PMID:35167946   PMID:35184170   PMID:35196485   PMID:35322202   PMID:35328591   PMID:35421372   PMID:35472633   PMID:35508126   PMID:35680976   PMID:35712856   PMID:35725556   PMID:35857834  
PMID:35864091   PMID:35905011   PMID:35931079   PMID:35977544   PMID:36008423   PMID:36057966   PMID:36064547   PMID:36094016   PMID:36196625   PMID:36218069   PMID:36220081   PMID:36252002  
PMID:36323321   PMID:36362374   PMID:36394554   PMID:36398878   PMID:36443296   PMID:36459481   PMID:36577057   PMID:36584300   PMID:36790128   PMID:36916392   PMID:36920550   PMID:36960826  
PMID:36971701   PMID:37228654   PMID:37315133   PMID:37355632   PMID:37442233   PMID:37516749   PMID:37527037   PMID:37532091   PMID:37575058   PMID:37591247   PMID:37683603   PMID:37776236  
PMID:37863656   PMID:37885410   PMID:38062245   PMID:38079449  


Genomics

Comparative Map Data
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
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38995,442,980 - 95,516,971 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 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
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8171,548,449 - 1,613,461 (+)NCBIGRCr8
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_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0173,104,008 - 3,169,034 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0171,558,861 - 1,623,889 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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
(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
NHGRI_mPanPan1-v21143,932,644 - 44,006,817 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1943,935,021 - 44,009,196 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0966,542,675 - 66,616,820 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1994,668,792 - 94,741,517 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl994,668,365 - 94,741,453 (-)Ensemblpanpan1.1panPan2
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 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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
2303 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:183
Count of miRNA genes:174
Interacting mature miRNAs:181
Transcripts:ENSMUST00000021921
Prediction methods: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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
26884393Humsd7_mhumerus midshaft diameter 7, 16 week (mouse)13395000076048119Mouse
4142147Mvwf4_mmodifier of von Willebrand factor 4 (mouse)Not determined20477612112898424Mouse
4142009Pregq3_mpregnancy QTL 3 (mouse)Not determined132061551272385189Mouse
10755533Chol18_mcholesterol 18 (mouse)133096946764969467Mouse
10755517Chol15_mcholesterol 15 (mouse)133096946764969467Mouse
12738439Twq4_mtestis weight QTL 4 (mouse)133112911065129110Mouse
14696729Kidlq2_mkidney weight, left QTL 2 (mouse)133134473665344736Mouse
1301299Sluc23_msusceptibility to lung cancer 23 (mouse)Not determined133492194368922081Mouse
10412235Scgq5_mspontaneous crescentic glomerulonephritis QTL 5 (mouse)Not determined133606090896239162Mouse
1357587Pfat3_mpredicted fat percentage 3 (mouse)Not determined133610153070101640Mouse
1301734Acsns2_mAngiostrongylus costaricensis nematode susceptibility 2 (mouse)Not determined133610153070101640Mouse
1300561Heal7_mwound healing/regeneration 7 (mouse)Not determined133614482070144904Mouse
1300862Cfbw5_mcystic fibrosis body weight 5 (mouse)Not determined133872035872720517Mouse
1300985Bmd13_mbone mineral density 13 (mouse)Not determined133962924973629397Mouse
1302157Bwem2_mbody weight day 30 males 2 (mouse)Not determined133962924973629397Mouse
1301801Cpfd5_mcerebellum pattern fissures (mouse)Not determined133962924973629397Mouse
15039353Nmrs35_mNAFLD-associated magnetic resonance shift 35 (mouse)134058825374588253Mouse
1300668Pas10_mpulmonary adenoma susceptibility 10 (mouse)Not determined134148904275489158Mouse
4142331Bxs6_mBXSB/MpJ autoimmune nephritis 6 (mouse)Not determined4521044283744746Mouse
10412109Bxs7_mBXSB/MpJ autoimmune nephritis 7 (mouse)Not determined134521044283744746Mouse
26884396Humsd4_mhumerus midshaft diameter 4, 10 week (mouse)134785347673148119Mouse
4142372Moo2_mmodifier of Odc2 (mouse)Not determinedX5031841184318559Mouse
1301666Eae13_msusceptibility to experimental allergic encephalomyelitis 13 (mouse)Not determined135031841184318559Mouse
1300573Elsgp2_melevated serum gp70 2 (mouse)Not determined135061682884617027Mouse
14746975Manh74_mmandible shape 74 (mouse)135247726986477269Mouse
1302073Pgct1_mprimordial germ cell tumor locus 1 (mouse)Not determined135382078387820897Mouse
1357563Bmch6_mbone mechanical trait 6 (mouse)Not determined135538498089385140Mouse
4142314Tailaq3_mtail length adjusted QTL 3 (mouse)Not determined55720354112431103Mouse
4140959W10q17_mweight 10 weeks QTL 17 (mouse)Not determined55720354112431103Mouse
4141992W6q16_mweight 6 weeks QTL 16 (mouse)Not determined55720354112431103Mouse
4142241Tailq3_mtail length QTL 3 (mouse)Not determined55720354112431103Mouse
1558850Sgp3_mserum gp70 production 3 (mouse)Not determined135647045676971314Mouse
10402414Sgp5_mserum gp70 production 5 (mouse)Not determined1356470456105422186Mouse
1357553Cia28_mcollagen induced arthritis 28 (mouse)Not determined135662924996239162Mouse
10412163Wra1_mwheel running activity 1 (mouse)Not determined135913260093132738Mouse

Markers in Region
Ptch1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381363,511,758 - 63,512,058UniSTSGRCm38
MGSCv371363,613,066 - 63,613,366UniSTSGRCm37
Celera1365,162,462 - 65,162,762UniSTS
Cytogenetic Map13B3UniSTS
cM Map1336.0UniSTS
D13Mit123  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381363,527,597 - 63,527,742UniSTSGRCm38
MGSCv371363,628,905 - 63,629,050UniSTSGRCm37
Celera1365,178,285 - 65,178,430UniSTS
Cytogenetic Map13B3UniSTS
cM Map1337.0UniSTS
Whitehead Genetic1324.0UniSTS
Whitehead_YAC13 UniSTS
AI323774  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381363,508,417 - 63,508,575UniSTSGRCm38
MGSCv371363,609,725 - 63,609,883UniSTSGRCm37
Celera1365,159,121 - 65,159,279UniSTS
Cytogenetic Map13B3UniSTS
cM Map1336.0UniSTS
Whitehead/MRC_RH13642.53UniSTS
UniSTS:237043  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381363,508,421 - 63,508,746UniSTSGRCm38
MGSCv371363,609,729 - 63,610,054UniSTSGRCm37
Celera1365,159,125 - 65,159,450UniSTS
Cytogenetic Map13B3UniSTS
cM Map1336.0UniSTS
Ptch  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13B3UniSTS
cM Map1336.0UniSTS
Ptch1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13B3UniSTS
Ptch1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381363,563,631 - 63,564,492UniSTSGRCm38
MGSCv371363,664,939 - 63,665,800UniSTSGRCm37
Celera1365,214,348 - 65,215,209UniSTS
Cytogenetic Map13B3UniSTS
Ptch1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13B3UniSTS
Ptch1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13B3UniSTS
Ptch1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381363,508,523 - 63,508,598UniSTSGRCm38
MGSCv371363,609,831 - 63,609,906UniSTSGRCm37
Celera1365,159,227 - 65,159,302UniSTS
Cytogenetic Map13B3UniSTS
Ptch1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13B3UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001328514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_008957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB164615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB164616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB189441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB189442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB189448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB189450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB189451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB214501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC154638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC160114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK020715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK138524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK147626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK163736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK166138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF464755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU700582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB520013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD545333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF165613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK636036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK639136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN531162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN535675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CO433508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM076695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM076696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM076697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM076698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM076699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM076700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY442312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSMUST00000021921   ⟹   ENSMUSP00000021921
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,656,142 - 63,713,549 (-)Ensembl
GRCm38.p6 Ensembl1363,508,328 - 63,565,735 (-)Ensembl
RefSeq Acc Id: ENSMUST00000192155   ⟹   ENSMUSP00000141489
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,656,150 - 63,712,349 (-)Ensembl
GRCm38.p6 Ensembl1363,508,336 - 63,564,535 (-)Ensembl
RefSeq Acc Id: ENSMUST00000193953   ⟹   ENSMUSP00000142036
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,690,990 - 63,713,088 (-)Ensembl
GRCm38.p6 Ensembl1363,543,176 - 63,565,274 (-)Ensembl
RefSeq Acc Id: ENSMUST00000194663   ⟹   ENSMUSP00000141766
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,656,143 - 63,721,274 (-)Ensembl
GRCm38.p6 Ensembl1363,508,329 - 63,573,460 (-)Ensembl
RefSeq Acc Id: ENSMUST00000195106   ⟹   ENSMUSP00000141298
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,690,990 - 63,721,412 (-)Ensembl
GRCm38.p6 Ensembl1363,543,176 - 63,573,598 (-)Ensembl
RefSeq Acc Id: ENSMUST00000195258   ⟹   ENSMUSP00000141309
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,656,144 - 63,711,629 (-)Ensembl
GRCm38.p6 Ensembl1363,508,330 - 63,563,815 (-)Ensembl
RefSeq Acc Id: ENSMUST00000195756   ⟹   ENSMUSP00000141990
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,690,990 - 63,712,140 (-)Ensembl
GRCm38.p6 Ensembl1363,543,176 - 63,564,326 (-)Ensembl
RefSeq Acc Id: ENSMUST00000220588
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,692,673 - 63,693,130 (-)Ensembl
GRCm38.p6 Ensembl1363,544,859 - 63,545,316 (-)Ensembl
RefSeq Acc Id: ENSMUST00000222040
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,658,818 - 63,659,843 (-)Ensembl
GRCm38.p6 Ensembl1363,511,004 - 63,512,029 (-)Ensembl
RefSeq Acc Id: ENSMUST00000223515
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1363,685,277 - 63,687,492 (-)Ensembl
GRCm38.p6 Ensembl1363,537,463 - 63,539,678 (-)Ensembl
RefSeq Acc Id: NM_001328514   ⟹   NP_001315443
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391363,656,142 - 63,721,274 (-)NCBI
GRCm381363,508,328 - 63,573,460 (-)NCBI
Sequence:
RefSeq Acc Id: NM_008957   ⟹   NP_032983
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391363,656,142 - 63,713,549 (-)NCBI
GRCm381363,508,328 - 63,565,735 (-)NCBI
MGSCv371363,612,841 - 63,666,828 (-)RGD
Celera1365,162,237 - 65,216,237 (-)RGD
cM Map13 ENTREZGENE
Sequence:
RefSeq Acc Id: NP_032983   ⟸   NM_008957
- Peptide Label: isoform a
- UniProtKB: Q61115 (UniProtKB/Swiss-Prot),   A0A0A6YWC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001315443   ⟸   NM_001328514
- Peptide Label: isoform b
- UniProtKB: A0A0A6YWC4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSMUSP00000142036   ⟸   ENSMUST00000193953
RefSeq Acc Id: ENSMUSP00000141489   ⟸   ENSMUST00000192155
RefSeq Acc Id: ENSMUSP00000021921   ⟸   ENSMUST00000021921
RefSeq Acc Id: ENSMUSP00000141990   ⟸   ENSMUST00000195756
RefSeq Acc Id: ENSMUSP00000141298   ⟸   ENSMUST00000195106
RefSeq Acc Id: ENSMUSP00000141309   ⟸   ENSMUST00000195258
RefSeq Acc Id: ENSMUSP00000141766   ⟸   ENSMUST00000194663
Protein Domains
SSD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q61115-F1-model_v2 AlphaFold Q61115 1-1434 view protein structure

Promoters
RGD ID:6824275
Promoter ID:MM_KWN:14455
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain,   Liver
Transcripts:UC007QXU.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361363,615,301 - 63,616,442 (-)MPROMDB
RGD ID:6847057
Promoter ID:MM_ACW:13610
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain,   Liver
Transcripts:PTCH1.KSEP07-UNSPLICED
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361363,626,091 - 63,626,591 (-)MPROMDB
RGD ID:6824277
Promoter ID:MM_KWN:14456
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Kidney
Transcripts:UC007QXW.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361363,640,601 - 63,641,101 (-)MPROMDB
RGD ID:6849044
Promoter ID:MM_XEF:1914
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B6,   Spleen
Transcripts:NM_001083607,   NM_001087969,   NM_001088613,   NM_001136166
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361363,664,651 - 63,665,182 (-)MPROMDB
RGD ID:6824295
Promoter ID:MM_KWN:14457
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_2Hour,   Brain,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6
Transcripts:UC007QXX.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361363,665,441 - 63,666,452 (-)MPROMDB
RGD ID:6824287
Promoter ID:MM_KWN:14458
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day2,   Brain,   Kidney,   Liver,   Lung,   MEF_B4
Transcripts:ENSMUST00000021921,   UC007QXY.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361363,667,159 - 63,667,659 (-)MPROMDB
RGD ID:6847056
Promoter ID:MM_ACW:13614
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain,   Liver
Transcripts:PTCH1.BSEP07
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361363,674,814 - 63,675,314 (-)MPROMDB

Additional Information