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MIRAGE
Sodium- and chloride-dependent creatine transporter 1
Summary
- UniProt ID
- P48029
- Gene Symbol
-
- SLC6A8
- Gene ID
- 6535
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cell membrane
- Disease variant
- Glycoprotein
- Intellectual disability
- Phosphoprotein
- Reference proteome
- Sodium transport
- Symport
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| apical plasma membrane |
| plasma membrane |
| membrane |
| GO Term |
|---|
| creatine:sodium symporter activity |
| creatine transmembrane transporter activity |
| gamma-aminobutyric acid:sodium:chloride symporter activity |
Sequence
MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 192 | N-linked (GlcNAc...) asparagine | |||
| 197 | N-linked (GlcNAc...) asparagine | |||
| 524 |
|
|||
| 548 | N-linked (GlcNAc...) asparagine |
|
||
| 623 |
|
G26436YP
G41891LD
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Creatine metabolism | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050800 | cerebral creatine deficiency syndrome 1 | |
| DOID:1059 | intellectual disability |
