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MIRAGE
Protein patched homolog 1
Summary
- UniProt ID
- Q13635
- Gene Symbol
-
- PTCH
- PTCH1
- Gene ID
- 5727
- 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
- Gene Ontology (GO)
| GO Term |
|---|
| plasma membrane |
| intracellular membrane-bounded organelle |
| postsynaptic membrane |
| apical part of cell |
| perinuclear region of cytoplasm |
| caveola |
| midbody |
| endocytic vesicle membrane |
| dendritic growth cone |
| axonal growth cone |
| GO Term |
|---|
| cell proliferation involved in metanephros development |
| metanephric collecting duct development |
| negative regulation of stem cell proliferation |
| spinal cord motor neuron differentiation |
| neural plate axis specification |
Sequence
MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVLSFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHDNTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQSPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQLPKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDISQLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLLNPWTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALEHMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEPPPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATENPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGHSGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPGYPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEERPRGSSSN
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 120 |
|
|
||
| 141 | N-linked (GlcNAc...) asparagine |
|
||
| 312 | N-linked (GlcNAc...) asparagine | |||
| 349 | N-linked (GlcNAc...) asparagine |
|
||
| 414 | N-linked (GlcNAc...) asparagine | |||
| 444 |
|
|||
| 875 | N-linked (GlcNAc...) asparagine | |||
| 979 |
|
|
||
| 1000 | N-linked (GlcNAc...) asparagine |
|
||
| 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: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 |
