PTCH1

PTCH1
Identifiers
Aliases	PTCH1, BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11, patched 1
External IDs	OMIM: 601309; MGI: 105373; HomoloGene: 223; GeneCards: PTCH1; OMA:PTCH1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	95,517,057 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	63,721,412 bp
RNA expression pattern
	Top expressed in
	tibia; ; spinal ganglia; ; trigeminal ganglion; ; sural nerve; ; pylorus; ; sperm; ; retinal pigment epithelium; ; cardia; ; internal globus pallidus; ; endometrium;
	Top expressed in
	upper jaw; ; Gonadal ridge; ; tooth; ; molar; ; vas deferens; ; migratory enteric neural crest cell; ; lobe of cerebellum; ; sciatic nerve; ; hair follicle; ; dermis;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	heparin binding; smoothened binding; cholesterol binding; patched binding; protein binding; hedgehog receptor activity; hedgehog family protein binding; cyclin binding; protein-containing complex binding;
Cellular component	integral component of membrane; endocytic vesicle membrane; dendritic growth cone; Golgi apparatus; intracellular membrane-bounded organelle; postsynaptic density; membrane; plasma membrane; axonal growth cone; midbody; ciliary membrane; perinuclear region of cytoplasm; caveola; cilium; nucleus;
Biological process	pattern specification process; renal system development; neural plate axis specification; response to estradiol; limb morphogenesis; negative regulation of smoothened signaling pathway; response to organic cyclic compound; response to retinoic acid; glucose homeostasis; embryonic organ development; cell proliferation involved in metanephros development; negative regulation of multicellular organism growth; protein processing; response to mechanical stimulus; heart morphogenesis; epidermal cell fate specification; in utero embryonic development; negative regulation of transcription by RNA polymerase II; hindlimb morphogenesis; negative regulation of DNA-binding transcription factor activity; negative regulation of osteoblast differentiation; mammary gland epithelial cell differentiation; somite development; cellular response to cholesterol; regulation of protein localization; positive regulation of transcription, DNA-templated; mammary gland duct morphogenesis; mammary gland development; neural tube patterning; regulation of smoothened signaling pathway; branching involved in ureteric bud morphogenesis; neural tube closure; brain development; keratinocyte proliferation; negative regulation of cell division; smoothened signaling pathway involved in dorsal/ventral neural tube patterning; regulation of cell population proliferation; embryonic limb morphogenesis; positive regulation of cholesterol efflux; regulation of mitotic cell cycle; negative regulation of epithelial cell proliferation; epidermis development; animal organ morphogenesis; cell differentiation involved in kidney development; cell fate determination; response to chlorate; regulation of growth; smoothened signaling pathway; dorsal/ventral neural tube patterning; spinal cord motor neuron differentiation; negative regulation of transcription, DNA-templated; positive regulation of epidermal cell differentiation; dorsal/ventral pattern formation; neural tube formation; signal transduction; negative regulation of cell population proliferation; pharyngeal system development; prostate gland development; commissural neuron axon guidance; protein localization to plasma membrane; liver regeneration;
	Sources:Amigo / QuickGO
Orthologs
	5727
	19206
	ENSG00000185920
	ENSMUSG00000021466
	Q13635
	Q61115
NM_000264; NM_001083602; NM_001083603; NM_001083604; NM_001083605;
	NM_001083606; NM_001083607; NM_001354918; NM_001354919
	NM_008957; NM_001328514
NP_000255; NP_001077071; NP_001077072; NP_001077073; NP_001077074;
	NP_001077075; NP_001077076; NP_001341847; NP_001341848
	NP_001315443; NP_032983
	Wikidata
View/Edit Human	View/Edit Mouse

Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000185920 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021466 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP (Aug 1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome". Science. 272 (5268): 1668–71. Bibcode:1996Sci...272.1668J. doi:10.1126/science.272.5268.1668. PMID 8658145. S2CID 9160210.
^ "Entrez Gene: PTCH1 patched homolog 1 (Drosophila)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000185920 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021466 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8658145-5] Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP (Aug 1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome". Science. 272 (5268): 1668–71. Bibcode:1996Sci...272.1668J. doi:10.1126/science.272.5268.1668. PMID 8658145. S2CID 9160210.

[entrez-6] "Entrez Gene: PTCH1 patched homolog 1 (Drosophila)".

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