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Conserved oligomeric Golgi complex subunit 6
Summary
- UniProt ID
- Q9Y2V7
- Gene Symbol
-
- COG6
- KIAA1134
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Congenital disorder of glycosylation
- Disease variant
- Golgi apparatus
- Intellectual disability
- Membrane
- Protein transport
- Reference proteome
- Gene Ontology (GO)
| GO Term |
|---|
| glycosylation |
| retrograde transport, vesicle recycling within Golgi |
| intra-Golgi vesicle-mediated transport |
| Golgi organization |
| protein transport |
| GO Term |
|---|
| Golgi membrane |
| trans-Golgi network membrane |
| Golgi transport complex |
Sequence
MAEGSGEVVAVSATGAANGLNNGAGGTSATTCNPLSRKLHKILETRLDNDKEMLEALKALSTFFVENSLRTRRNLRGDIERKSLAINEEFVSIFKEVKEELESISEDVQAMSNCCQDMTSRLQAAKEQTQDLIVKTTKLQSESQKLEIRAQVADAFLSKFQLTSDEMSLLRGTREGPITEDFFKALGRVKQIHNDVKVLLRTNQQTAGLEIMEQMALLQETAYERLYRWAQSECRTLTQESCDVSPVLTQAMEALQDRPVLYKYTLDEFGTARRSTVVRGFIDALTRGGPGGTPRPIEMHSHDPLRYVGDMLAWLHQATASEKEHLEALLKHVTTQGVEENIQEVVGHITEGVCRPLKVRIEQVIVAEPGAVLLYKISNLLKFYHHTISGIVGNSATALLTTIEEMHLLSKKIFFNSLSLHASKLMDKVELPPPDLGPSSALNQTLMLLREVLASHDSSVVPLDARQADFVQVLSCVLDPLLQMCTVSASNLGTADMATFMVNSLYMMKTTLALFEFTDRRLEMLQFQIEAHLDTLINEQASYVLTRVGLSYIYNTVQQHKPEQGSLANMPNLDSVTLKAAMVQFDRYLSAPDNLLIPQLNFLLSATVKEQIVKQSTELVCRAYGEVYAAVMNPINEYKDPENILHRSPQQVQTLLS
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 168 |
|
|||
| 173 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| COPI-mediated anterograde transport | Homo sapiens |
| Intra-Golgi traffic | Homo sapiens |
| Retrograde transport at the Trans-Golgi-Network | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
| DOID:0050571 | congenital disorder of glycosylation type II | |
| DOID:0070264 | congenital disorder of glycosylation type IIl | |
| DOID:0080470 | developmental and epileptic encephalopathy 36 | |
| DOID:10461 | dentin caries | |
| DOID:1059 | intellectual disability | |
| DOID:10907 | microcephaly | |
| DOID:10908 | hydrocephalus | |
| DOID:11155 | hypohidrosis | |
| DOID:11156 | anhidrosis |
