SLC6A8
entrez
6535
canonical
uniprot
P48029
canonical
ensembl
ENSG00000130821
resolver
ensp
ENSP00000253122
resolver
ensp
ENSP00000403041
resolver
genesymbol
SLC6A8
resolver
hgnc
HGNC:11055
resolver
uniprot
B2KY47
resolver
uniprot
B4DIA3
resolver
uniprot
E9PFC0
resolver
uniprot
Q13032
resolver
uniprot
Q59EV7
resolver
uniprot
Q66I36
resolver
uniprot
X5D9C4
resolver
uniprot_entry
Q59EV7_HUMAN
resolver
uniprot_entry
SC6A8_HUMAN
resolver
uniprot_entry
X5D9C4_HUMAN
resolver
uniprot_sec
B2KY47
resolver
uniprot_sec
B4DIA3
resolver
uniprot_sec
E9PFC0
resolver
uniprot_sec
Q13032
resolver
uniprot_sec
Q66I36
resolver
amino_acid_sequence
MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM
uniprot
proteins
disease_involvement
DISEASE: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]: An X-linked disorder of creatine transport characterized by intellectual disability, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. {ECO:0000269|PubMed:11898126, ECO:0000269|PubMed:12210795, ECO:0000269|PubMed:15154114, ECO:0000269|PubMed:16738945, ECO:0000269|PubMed:17101918, ECO:0000269|PubMed:17465020, ECO:0000269|PubMed:22644605, ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:24123876, ECO:0000269|PubMed:25861866}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Creatine:sodium symporter which mediates the uptake of creatine (PubMed:17465020, PubMed:22644605, PubMed:25861866, PubMed:7945388, PubMed:7953292, PubMed:9882430). Plays an important role in supplying creatine to the brain via the blood-brain barrier (By similarity). {ECO:0000250|UniProtKB:Q8VBW1, ECO:0000269|PubMed:17465020, ECO:0000269|PubMed:22644605, ECO:0000269|PubMed:25861866, ECO:0000269|PubMed:7945388, ECO:0000269|PubMed:7953292, ECO:0000269|PubMed:9882430}.
uniprot
proteins
mass_dalton
70523
uniprot
proteins
mutagenesis
MUTAGEN 285; /note="A->P: No effect on creatine transporter activity."; /evidence="ECO:0000269|PubMed:9882430
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000250|UniProtKB:Q8VBW1}.
uniprot
proteins
protein_family
SLC6A8 subfamily
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
11898126
uniprot
proteins
pubmed
12210795
uniprot
proteins
pubmed
12433955
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15154114
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16738945
uniprot
proteins
pubmed
17101918
uniprot
proteins
pubmed
17465020
uniprot
proteins
pubmed
18515020
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22644605
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
23092983
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23660394
uniprot
proteins
pubmed
24123876
uniprot
proteins
pubmed
25861866
uniprot
proteins
pubmed
7622069
uniprot
proteins
pubmed
7945388
uniprot
proteins
pubmed
7953292
uniprot
proteins
pubmed
8661155
uniprot
proteins
pubmed
9882430
uniprot
proteins
sequence_length
635
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22644605}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:12433955}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 61..81; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 88..108; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 139..159; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 231..251; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 270..290; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 305..325; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 342..362; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 395..415; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 445..465; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 480..500; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 521..541; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 561..581; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins