| UniProt ID | SC6A8_HUMAN | |
|---|---|---|
| UniProt AC | P48029 | |
| Protein Name | Sodium- and chloride-dependent creatine transporter 1 | |
| Gene Name | SLC6A8 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 635 | |
| Subcellular Localization |
Membrane Multi-pass membrane protein. |
|
| Protein Description | Required for the uptake of creatine in muscles and brain.. | |
| Protein Sequence | MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 4 | Ubiquitination | ----MAKKSAENGIY ----CCCCCCCCCCE | 45.41 | 21906983 | |
| 5 | Phosphorylation | ---MAKKSAENGIYS ---CCCCCCCCCCEE | 39.86 | 21945579 | |
| 11 | Phosphorylation | KSAENGIYSVSGDEK CCCCCCCEECCCCCC | 12.38 | 21945579 | |
| 12 | Phosphorylation | SAENGIYSVSGDEKK CCCCCCEECCCCCCC | 14.11 | 21945579 | |
| 14 | Phosphorylation | ENGIYSVSGDEKKGP CCCCEECCCCCCCCC | 34.29 | 21945579 | |
| 18 | Acetylation | YSVSGDEKKGPLIAP EECCCCCCCCCEECC | 68.70 | 7481353 | |
| 18 | Ubiquitination | YSVSGDEKKGPLIAP EECCCCCCCCCEECC | 68.70 | 21906983 | |
| 19 | Acetylation | SVSGDEKKGPLIAPG ECCCCCCCCCEECCC | 64.81 | 12429819 | |
| 19 | Ubiquitination | SVSGDEKKGPLIAPG ECCCCCCCCCEECCC | 64.81 | 1906983 | |
| 33 | Acetylation | GPDGAPAKGDGPVGL CCCCCCCCCCCCCCC | 57.38 | 12429829 | |
| 33 | Ubiquitination | GPDGAPAKGDGPVGL CCCCCCCCCCCCCCC | 57.38 | 21906983 | |
| 42 | Phosphorylation | DGPVGLGTPGGRLAV CCCCCCCCCCCCCCC | 24.65 | 29255136 | |
| 54 | Phosphorylation | LAVPPRETWTRQMDF CCCCCHHHHHHHHHH | 33.16 | 30576142 | |
| 56 | Phosphorylation | VPPRETWTRQMDFIM CCCHHHHHHHHHHHH | 20.60 | 30576142 | |
| 94 (in isoform 2) | Phosphorylation | - | 10.82 | 28450419 | |
| 95 (in isoform 2) | Phosphorylation | - | 2.33 | 28450419 | |
| 192 | N-linked_Glycosylation | FRHEDCANASLANLT HCCHHHCCHHHCCCC | 36.07 | UniProtKB CARBOHYD | |
| 197 | N-linked_Glycosylation | CANASLANLTCDQLA HCCHHHCCCCHHHHH | 40.97 | UniProtKB CARBOHYD | |
| 217 | Ubiquitination | VIEFWENKVLRLSGG CHHHHHCCEEEECCC | 31.00 | 21906983 | |
| 361 | Phosphorylation | FAGFVVFSILGFMAA HHHHHHHHHHHHHHH | 12.80 | 22210691 | |
| 548 | N-linked_Glycosylation | YYEPLVYNNTYVYPW EECCEEECCEEEECC | 27.21 | UniProtKB CARBOHYD | |
| 614 | Methylation | RAQDADVRGLTTLTP HCCCCCCCCCEEEEE | 34.64 | 115917129 | |
| 617 | Phosphorylation | DADVRGLTTLTPVSE CCCCCCCEEEEECCC | 23.68 | 30266825 | |
| 618 | Phosphorylation | ADVRGLTTLTPVSES CCCCCCEEEEECCCC | 33.41 | 20363803 | |
| 620 | Phosphorylation | VRGLTTLTPVSESSK CCCCEEEEECCCCCE | 21.39 | 30266825 | |
| 623 | Phosphorylation | LTTLTPVSESSKVVV CEEEEECCCCCEEEE | 32.72 | 30266825 | |
| 623 | O-linked_Glycosylation | LTTLTPVSESSKVVV CEEEEECCCCCEEEE | 32.72 | 28657654 | |
| 625 | Phosphorylation | TLTPVSESSKVVVVE EEEECCCCCEEEEEE | 28.14 | 30266825 | |
| 626 | Phosphorylation | LTPVSESSKVVVVES EEECCCCCEEEEEEE | 25.97 | 30266825 | |
| 627 | Ubiquitination | TPVSESSKVVVVESV EECCCCCEEEEEEEC | 48.61 | 2190698 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of SC6A8_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of SC6A8_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of SC6A8_HUMAN !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
Oops, there are no PPI records of SC6A8_HUMAN !! | ||||
| Kegg Disease | |
|---|---|
| H00480 | Non-syndromic X-linked mental retardation |
| H00577 | Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Part |
| H00849 | Creatine deficiency syndrome, including: Arginine:glycine amidinotransferase deficiency (AGAT defici |
| OMIM Disease | |
| 300352 | Cerebral creatine deficiency syndrome 1 (CCDS1) |
| Kegg Drug | |
| There are no disease associations of PTM sites. | |
| DrugBank | |
| DB00148 | Creatine |
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| Phosphorylation | |
| Reference | PubMed |
| "Kinase-selective enrichment enables quantitative phosphoproteomics ofthe kinome across the cell cycle."; Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,Greff Z., Keri G., Stemmann O., Mann M.; Mol. Cell 31:438-448(2008). Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-620, AND MASSSPECTROMETRY. | |