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MIRAGE
patched 1
Summary
- Gene Symbol
-
- PTCH1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Disease variant
- Glycoprotein
- Holoprosencephaly
- Isopeptide bond
- Phosphoprotein
- Receptor
- Reference proteome
- Transmembrane helix
- Tumor suppressor
- Ubl conjugation
- Proteins
| UniProt | Protein Name |
|---|---|
| Q13635 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| 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
biological process
cellular process [inference]
developmental process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
negative regulation of metabolic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of primary metabolic 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 cellular metabolic process [inference]
regulation of cell population proliferation [inference]
regulation of cell differentiation [inference]
negative regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi apparatus | ||
| plasma membrane | ||
| plasma membrane | ||
| caveola | ||
| midbody |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| patched binding | ||
| smoothened binding | ||
| smoothened binding | ||
| protein binding | ||
| hedgehog receptor activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- patched
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| hedgehog family protein binding |
| hedgehog receptor activity |
| smoothened binding |
| InterPro |
|---|
| Protein patched/dispatched |
| Sterol-sensing domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070365 | nevoid basal cell carcinoma syndrome 1 | |
| DOID:0110876 | holoprosencephaly 7 | |
| DOID:10534 | stomach cancer | |
| DOID:2512 | nevoid basal cell carcinoma syndrome | |
| DOID:2513 | basal cell carcinoma | |
| DOID:3907 | lung squamous cell carcinoma | |
| DOID:3910 | lung adenocarcinoma | |
| DOID:4621 | holoprosencephaly | |
| DOID:5522 | basaloid squamous cell carcinoma |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 102121818 | MACFA12545 | ||
| 102187048 | CAPHI29470 | ||
| 102424447 | MYOLU13392 | ||
| 102445339 | PELSI10966 | ||
| 103182828 | CALMI25879 | ||
| 103260565 | CARSF19434 | ||
| 103397246 | CYNSE31358 | ||
| 103398858 | CYNSE00629 | ||
| 103751618 | NANGA18000 | ||
| 103822966 | SERCA19789 |
