Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: PTCH1 (patched 1) Homo sapiens
Analyze
Symbol: PTCH1
Name: patched 1
Description: Exhibits several functions, including cholesterol binding activity; cyclin binding activity; and hedgehog family protein binding activity. Involved in several processes, including cellular response to cholesterol; chordate embryonic development; and regulation of transcription, DNA-templated. Localizes to the caveola; intracellular membrane-bounded organelle; and perinuclear region of cytoplasm. Colocalizes with the Golgi apparatus. Implicated in basal cell carcinoma; holoprosencephaly; holoprosencephaly 7; and nevoid basal cell carcinoma syndrome. Biomarker of basal cell carcinoma; hyperglycemia; nevoid basal cell carcinoma syndrome; pancreatic cancer; and spina bifida.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCNS; FLJ26746; FLJ42602; HPE7; NBCCS; patched homolog (drosophila); patched homolog 1; patched-like protein 1 delta10; patched-like protein 1 delta15; PTC; PTC1; PTCH; PTCH protein +12b; PTCH protein +4'; PTCH protein -10; PTCH protein -3,4,5; PTCH11
Orthologs:
Mus musculus (house mouse) : Ptch1 (patched 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ptch1 (patched 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ptch1 (patched 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PTCH1 (patched 1)
Canis lupus familiaris (dog) : PTCH1 (patched 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ptch1 (patched 1)
Sus scrofa (pig) : PTCH1 (patched 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38995,442,980 - 95,517,057 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37998,205,264 - 98,279,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36997,245,085 - 97,319,068 (-)NCBINCBI36hg18NCBI36
Build 34995,285,954 - 95,350,386NCBI
Celera968,646,306 - 68,719,962 (-)NCBI
Cytogenetic Map9q22.32NCBI
HuRef967,814,741 - 67,888,045 (-)NCBIHuRef
CHM1_1998,351,712 - 98,425,709 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model