| URN | urn:agi-llid:5727 |
|---|---|
| Connectivity | 171 |
| Name | Ptch1 |
| Description | patched 1 |
| Notes | This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq] |
| Pathway | Hedgehog signaling pathway |
|---|
| GO Molecular Function | patched binding |
|---|---|
| heparin binding | |
| cholesterol binding | |
| zinc ion binding | |
| receptor activity | |
| hedgehog receptor activity |
| GO Cellular Component | extracellular region |
|---|---|
| membrane | |
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane |
| GO Biological Process | cell proliferation |
|---|---|
| keratinocyte proliferation | |
| pattern specification process | |
| anatomical structure morphogenesis | |
| regulation of growth | |
| organ morphogenesis | |
| neural tube closure | |
| neural tube formation | |
| dorsal-ventral pattern formation | |
| dorsal-ventral neural tube patterning | |
| epidermis development | |
| mammary gland development | |
| mammary gland epithelial cell differentiation | |
| heart morphogenesis | |
| embryonic limb morphogenesis | |
| mammary gland duct morphogenesis | |
| hindlimb morphogenesis | |
| negative regulation of multicellular organism growth | |
| signal transduction | |
| negative regulation of epithelial cell proliferation | |
| response to mechanical stimulus | |
| response to drug | |
| response to chlorate | |
| response to organic cyclic substance | |
| response to estradiol stimulus | |
| response to retinoic acid | |
| regulation of smoothened signaling pathway | |
| protein processing | |
| smoothened signaling pathway | |
| glucose homeostasis |
| Ariadne Ontology | Patched |
|---|---|
| Tumor suppressors |
| Group | Patched |
|---|---|
| Tumor suppressors | |
| extracellular region | |
| cell proliferation | |
| keratinocyte proliferation | |
| pattern specification process | |
| anatomical structure morphogenesis | |
| regulation of growth | |
| organ morphogenesis | |
| neural tube closure | |
| neural tube formation | |
| dorsal-ventral pattern formation | |
| dorsal-ventral neural tube patterning | |
| epidermis development | |
| mammary gland development | |
| mammary gland epithelial cell differentiation | |
| heart morphogenesis | |
| embryonic limb morphogenesis | |
| mammary gland duct morphogenesis | |
| hindlimb morphogenesis | |
| negative regulation of multicellular organism growth | |
| signal transduction | |
| negative regulation of epithelial cell proliferation | |
| response to mechanical stimulus | |
| response to drug | |
| response to chlorate | |
| response to organic cyclic substance | |
| response to estradiol stimulus | |
| response to retinoic acid | |
| regulation of smoothened signaling pathway | |
| protein processing | |
| smoothened signaling pathway | |
| glucose homeostasis | |
| patched binding | |
| heparin binding | |
| cholesterol binding | |
| zinc ion binding | |
| receptor activity | |
| hedgehog receptor activity | |
| membrane | |
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane |
| MedScan ID | 5727 |
|---|
| Hugo ID | 9585 |
|---|
| Human chromosome position | 9q22.3 |
|---|
| LocusLink ID | 5727 |
|---|---|
| 19206 | |
| 89830 |
| Alias | PTC |
|---|---|
| BCNS | |
| HPE7 | |
| PTC1 | |
| PTCH | |
| NBCCS | |
| PTCH11 | |
| FLJ26746 | |
| FLJ42602 | |
| RP11-435O5.3 | |
| protein patched homolog 1 | |
| PTCH protein +4' | |
| PTCH protein -10 | |
| PTCH protein +12b | |
| patched homolog 1 | |
| OTTHUMP00000021709 | |
| OTTHUMP00000021710 | |
| mes | |
| A230106A15Rik | |
| Patched 1 | |
| Ptch1 protein +12b | |
| mesenchymal dysplasia | |
| Ptch2 | |
| patched homolog 2 | |
| patched e isoform | |
| A230106A15 | |
| homolog of Drosophila Patched | |
| LOC290961 | |
| mesenchymal dysplasia gene | |
| mesenchymal dysplasia protein | |
| Nevoid basal cell carcinoma syndrome gene | |
| Nevoid basal cell carcinoma syndrome protein | |
| patched (Drosophila) homolog | |
| patched gene | |
| patched homolog | |
| patched homolog (Drosophila) | |
| patched homolog 1 (Drosophila) | |
| Patched I | |
| Patched protein homolog 1 | |
| Patched protein homolog I | |
| PTC I | |
| PTCH protein 12b | |
| PTCH1 | |
| Ptch1 protein 12b |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 601309 |
|---|---|
| 605462 | |
| 109400 | |
| 610828 | |
| 155255 |
| Mouse chromosome position | 13 36.0 cM |
|---|
| GO ID | 0008158 |
|---|---|
| 0008201 | |
| 0005113 | |
| 0004872 | |
| 0009653 | |
| 0008283 | |
| 0021904 | |
| 0009953 | |
| 0030326 | |
| 0008544 | |
| 0042593 | |
| 0003007 | |
| 0035137 | |
| 0043616 | |
| 0060603 | |
| 0060644 | |
| 0050680 | |
| 0040015 | |
| 0001843 | |
| 0001841 | |
| 0009887 | |
| 0007389 | |
| 0016485 | |
| 0040008 | |
| 0008589 | |
| 0010157 | |
| 0042493 | |
| 0032355 | |
| 0009612 | |
| 0014070 | |
| 0032526 | |
| 0007165 | |
| 0007224 | |
| 0005887 | |
| 0016020 | |
| 0030879 | |
| 0016021 | |
| 0005886 | |
| 0005576 | |
| 0015485 | |
| 0008270 |
| Rat chromosome position | 17p14 |
|---|
| Swiss-Prot Accession | Q13635 |
|---|---|
| Q59FG5 | |
| Q5R1V0 | |
| Q5R1U9 | |
| Q5R1U7 | |
| Q5VZC2 | |
| Q3LFT2 | |
| Q3LFT4 | |
| Q3LG18 | |
| Q5VZC1 | |
| Q6TKP8 | |
| Q6TKP9 | |
| Q6TKQ0 | |
| Q6ZVG8 | |
| Q86XG7 | |
| Q61115 | |
| Q3LG17 | |
| Q3TM50 | |
| Q3TQB0 | |
| Q3UUD4 | |
| Q5R1U4 | |
| Q5R252 | |
| Q5TLE7 | |
| Q5TLE8 | |
| Q6UY90 | |
| Q9Z2A1 | |
| Q13463 | |
| Q5VZC0 |
| PIR ID | T30172 |
|---|
| Unigene ID | Hs.494538 |
|---|---|
| Hs.638946 | |
| Mm.228798 | |
| Rn.102312 |
| KEGG ID | hsa:5727 |
|---|---|
| mmu:19206 | |
| rno:89830 |
| Swiss-Prot ID | PTC1_MOUSE |
|---|---|
| PTC1_HUMAN | |
| Q5R1U9_HUMAN | |
| Q5VZC2_HUMAN | |
| Q6UY90_RAT | |
| Q5R1V0_HUMAN | |
| Q59FG5_HUMAN | |
| Q5R1U7_HUMAN |
| Cell Localization | Membrane |
|---|---|
| Plasma membrane |
| IPI ID | IPI00117758 |
|---|---|
| IPI00014374 | |
| IPI00941667 | |
| IPI00643862 | |
| IPI00396901 | |
| IPI00844057 | |
| IPI00654873 | |
| IPI00446209 | |
| IPI00654566 | |
| IPI00478703 | |
| IPI00654901 | |
| IPI00551247 |
| Homologene ID | 223 |
|---|
| RGD ID | 621425 |
|---|
| MGI ID | 105373 |
|---|