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MIRAGE
Sonic hedgehog protein
Summary
- UniProt ID
- Q15465
- Gene Symbol
-
- SHH
- Gene ID
- 6469
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Autocatalytic cleavage
- Calcium
- Cell membrane
- Developmental protein
- Direct protein sequencing
- Disease variant
- Endoplasmic reticulum
- Glycoprotein
- Golgi apparatus
- Holoprosencephaly
- Metal-binding
- Microphthalmia
- Palmitate
- Protease
- Reference proteome
- Secreted
- Signal
- Transferase
- Zinc
- Gene Ontology (GO)
| GO Term |
|---|
| extracellular region |
| extracellular space |
| plasma membrane |
| collagen-containing extracellular matrix |
| Golgi membrane |
| endoplasmic reticulum |
| endoplasmic reticulum lumen |
| endoplasmic reticulum membrane |
| Golgi apparatus |
| cytosol |
Sequence
MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKISRNSERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLTFLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS
Glycosylation Sites
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 |
| Formation of axial mesoderm | Homo sapiens |
| Formation of lateral plate mesoderm | Homo sapiens |
| HHAT G278V doesn't palmitoylate Hh-Np | Homo sapiens |
| Hedgehog 'on' state | Homo sapiens |
| Hedgehog ligand biogenesis | Homo sapiens |
| Hh mutants are degraded by ERAD | Homo sapiens |
| Ligand-receptor interactions | Homo sapiens |
| Release of Hh-Np from the secreting cell | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060986 | preaxial polydactyly II | |
| DOID:0110875 | holoprosencephaly 3 | |
| DOID:0111380 | solitary median maxillary central incisor | |
| DOID:0111564 | hypoplastic or aplastic tibia with polydactyly | |
| DOID:0111818 | syndactyly type 4 | |
| DOID:10487 | Hirschsprung's disease | |
| DOID:1148 | polydactyly | |
| DOID:2513 | basal cell carcinoma | |
| DOID:3525 | middle cerebral artery infarction | |
| DOID:4621 | holoprosencephaly |
