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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
GPI inositol-deacylase
Summary
- UniProt ID
- Q75T13
- Gene Symbol
-
- PGAP1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Endoplasmic reticulum
- Glycoprotein
- Hydrolase
- Intellectual disability
- Protein transport
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| hydrolase activity, acting on ester bonds |
| phosphatidylinositol deacylase activity |
Sequence
MFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKIELPKKLAKRYPAYELYLYGEGSYAEEHKILPLTGIPVLFLPGNAGSYKQVRSIGSIALRKAEDIDFKYHFDFFSVNFNEELVALYGGSLQKQTKFVHECIKTILKLYKGQEFAPKSVAIIGHSMGGLVARALLTLKNFKHDLINLLITQATPHVAPVMPLDRFITDFYTTVNNYWILNARHINLTTLSVAGGFRDYQVRSGLTFLPKLSHHTSALSVVSSAVPKTWVSTDHLSIVWCKQLQLTTVRAFFDLIDADTKQITQNSKKKLSVLYHHFIRHPSKHFEENPAIISDLTGTSMWVLVKVSKWTYVAYNESEKIYFTFPLENHRKIYTHVYCQSTMLDTNSWIFACINSTSMCLQGVDLSWKAELLPTIKYLTLRLQDYPSLSHLVVYVPSVRGSKFVVDCEFFKKEKRYIQLPVTHLFSFGLSSRKVVLNTNGLYYNLELLNFGQIYQAFKINVVSKCSAVKEEITSIYRLHIPWSYEDSLTIAQAPSSTEISLKLHIAQPENNTHVALFKMYTSSDCRYEVTVKTSFSQILGQVVRFHGGALPAYVVSNILLAYRGQLYSLFSTGCCLEYATMLDKEAKPYKVDPFVIIIKFLLGYKWFKELWDVLLLPELDAVILTCQSMCFPLISLILFLFGTCTAYWSGLLSSASVRLLSSLWLALKRPSELPKDIKMISPDLPFLTIVLIIVSWTTCGALAILLSYLYYVFKVVHLQASLTTFKNSQPVNPKHSRRSEKKSNHHKDSSIHHLRLSANDAEDSLRMHSTVINLLTWIVLLSMPSLIYWLKNLRYYFKLNPDPCKPLAFILIPTMAILGNTYTVSIKSSKLLKTTSQFPLPLAVGVIAFGSAHLYRLPCFVFIPLLLHALCNFM
Glycosylation Sites
G83460ZZ
G41247ZX
G66760KM
G83646BJ
G80920RR
G62765YT
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Attachment of GPI anchor to uPAR | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
| DOID:0060284 | paroxysmal nocturnal hemoglobinuria | |
| DOID:0060308 | autosomal recessive intellectual developmental disorder | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0110881 | holoprosencephaly 1 | |
| DOID:1059 | intellectual disability | |
| DOID:10907 | microcephaly | |
| DOID:11832 | visual epilepsy | |
| DOID:12139 | dysthymic disorder | |
| DOID:12859 | choreatic disease |
