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MIRAGE
Protein patched homolog 1
Summary
- UniProt ID
- Q13635
- Gene Symbol
- PTCH1 PTCH
- Gene ID
- 5727
- Organism
- Homo sapiens (human)
Annotation
- Keyword
- 3D-structure Alternative splicing Cell membrane Disease variant Glycoprotein Holoprosencephaly Isopeptide bond Phosphoprotein Proteomics identification Receptor Reference proteome Transmembrane helix Tumor suppressor Ubl conjugation
Gene Ontology (GO)
| GO Term | Evidence Code | Reference |
|---|---|---|
| negative regulation of transcription by RNA polymerase II | ||
| branching involved in ureteric bud morphogenesis |
|
|
| in utero embryonic development |
|
|
| cell fate determination |
|
|
| neural tube closure |
|
|
GO Hierarchy
- signal transduction
biological process
cellular process [inference]
developmental process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of localization [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of developmental process [inference]
regulation of cellular process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of primary metabolic process [inference]
regulation of cell population proliferation [inference]
regulation of cell differentiation [inference]
negative regulation of cellular process [inference]
| GO Term | Evidence Code | Reference |
|---|---|---|
| plasma membrane | ||
| plasma membrane | ||
| plasma membrane | ||
| plasma membrane | ||
| caveola |
GO Hierarchy
| GO Term | Evidence Code | Reference |
|---|---|---|
| patched binding | ||
| smoothened binding | ||
| smoothened binding | ||
| smoothened binding | ||
| hedgehog receptor activity |
GO Hierarchy
Sequence
MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVLSFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHDNTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQSPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQLPKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDISQLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLLNPWTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALEHMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEPPPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATENPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGHSGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPGYPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEERPRGSSSN
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 120 |
|
|
||
| 141 |
|
|
||
| 312 |
|
|||
| 349 |
|
|
||
| 414 |
|
|||
| 444 |
|
|||
| 875 |
|
|||
| 979 |
|
|
||
| 1000 |
|
|
||
| 1195 |
|
|
G82501QM
G89827JR
G61256FT
G76295SF
G80920RR
G47644PP
G89045VA
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Activation of SMO | Homo sapiens |
| Class B/2 (Secretin family receptors) | Homo sapiens |
| Hedgehog 'off' state | Homo sapiens |
| Hedgehog 'on' state | Homo sapiens |
| Ligand-receptor interactions | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:5522 | basaloid squamous cell carcinoma | |
| DOID:0110876 | holoprosencephaly 7 | |
| DOID:0070365 | nevoid basal cell carcinoma syndrome 1 | |
| DOID:3907 | lung squamous cell carcinoma | |
| DOID:2513 | basal cell carcinoma | |
| DOID:4621 | holoprosencephaly | |
| DOID:10534 | stomach cancer | |
| DOID:3910 | lung adenocarcinoma | |
| DOID:2512 | nevoid basal cell carcinoma syndrome |
