PTCH1

PTCH1
Identifiers
Aliases	PTCH1, BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11, patched 1
External IDs	MGI: 105373 HomoloGene: 223 GeneCards: PTCH1
Gene ontology Molecular function • heparin binding • protein complex binding • smoothened binding • cholesterol binding • patched binding • protein binding • hedgehog receptor activity • hedgehog family protein binding • cyclin 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 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 from RNA polymerase II promoter • hindlimb morphogenesis • negative regulation of sequence-specific DNA binding transcription factor activity • negative regulation of osteoblast differentiation • mammary gland epithelial cell differentiation • somite development • cellular response to cholesterol • protein targeting to plasma membrane • 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 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 • response to drug • signal transduction • negative regulation of cell proliferation • pharyngeal system development Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5727	19206
Ensembl	ENSG00000185920	ENSMUSG00000021466
UniProt	Q13635	Q61115
RefSeq (mRNA)	NM_000264 NM_001083602 NM_001083603 NM_001083604 NM_001083605 NM_001083606 NM_001083607	NM_008957 NM_001328514
RefSeq (protein)	NP_000255 NP_001077071 NP_001077072 NP_001077073 NP_001077074 NP_001077075 NP_001077076	NP_032983.1 NP_001315443 NP_032983
Location (UCSC)	Chr 9: 95.44 – 95.52 Mb	Chr 13: 63.51 – 63.57 Mb
PubMed search

5727

19206

ENSG00000185920

ENSMUSG00000021466

Q13635

Q61115

NM_001083606
NM_001083607

NM_008957
NM_001328514

NP_001077075
NP_001077076

NP_032983.1
NP_001315443
NP_032983

Protein patched homolog 1 is a protein that is the member of the Patched family and in humans is encoded by the PTCH1 gene.

PTCH1 is a member of the patched gene family and is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor. The PTCH1 gene product, is a transmembrane protein that suppresses the release of another protein called smoothened, and when sonic hedgheog binds PTCH1, smoothened is released and signals cell proliferation.

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