SLC6A9
entrez
6536
canonical
uniprot
P48067
canonical
ensembl
ENSG00000196517
resolver
ensp
ENSP00000350362
resolver
ensp
ENSP00000353791
resolver
ensp
ENSP00000361381
resolver
ensp
ENSP00000361384
resolver
ensp
ENSP00000434460
resolver
ensp
ENSP00000501314
resolver
ensp
ENSP00000673358
resolver
enst
ENST00000372307
resolver
enst
ENST00000475075
resolver
genesymbol
SLC6A9
resolver
hgnc
HGNC:11056
resolver
uniprot
A6NDH1
resolver
uniprot
A6NII2
resolver
uniprot
A6NNZ8
resolver
uniprot
B7Z3A9
resolver
uniprot
B7Z3W8
resolver
uniprot
B7Z589
resolver
uniprot
F6R816
resolver
uniprot
J3KPA6
resolver
uniprot
Q5TAB8
resolver
uniprot
Q5TAB9
resolver
uniprot
Q5TAC0
resolver
uniprot_entry
B7Z3A9_HUMAN
resolver
uniprot_entry
B7Z3W8_HUMAN
resolver
uniprot_entry
B7Z589_HUMAN
resolver
uniprot_entry
F6R816_HUMAN
resolver
uniprot_entry
J3KPA6_HUMAN
resolver
uniprot_entry
SC6A9_HUMAN
resolver
uniprot_sec
A6NDH1
resolver
uniprot_sec
A6NII2
resolver
uniprot_sec
A6NNZ8
resolver
uniprot_sec
Q5TAB8
resolver
uniprot_sec
Q5TAB9
resolver
uniprot_sec
Q5TAC0
resolver
activity_regulation
ACTIVITY REGULATION: [Isoform GlyT-1B]: Inhibited by sarcosine. {ECO:0000269|PubMed:8183239}.; ACTIVITY REGULATION: [Isoform GlyT-1C]: Inhibited by sarcosine. {ECO:0000269|PubMed:8183239}.
uniprot
proteins
amino_acid_sequence
MSGGDTRAAIARPRMAAAHGPVAPSSPEQVTLLPVQRSFFLPPFSGATPSTSLAESVLKVWHGAYNSGLLPQLMAQHSLAMAQNGAVPSEATKRDQNLKRGNWGNQIEFVLTSVGYAVGLGNVWRFPYLCYRNGGGAFMFPYFIMLIFCGIPLFFMELSFGQFASQGCLGVWRISPMFKGVGYGMMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYCNNPWNTHDCAGVLDASNLTNGSRPAALPSNLSHLLNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEVRLPLLGCLGVSWLVVFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQWDKILEAKVWGDAASQIFYSLGCAWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGFMANHLGVDVSRVADHGPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGTQFCLLETLVTAIVDEVGNEWILQKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYAASFSLVVISCIMCVAIMYIYGHRNYFQDIQMMLGFPPPLFFQICWRFVSPAIIFFILVFTVIQYQPITYNHYQYPGWAVAIGFLMALSSVLCIPLYAMFRLCRTDGDTLLQRLKNATKPSRDWGPALLEHRTGRYAPTIAPSPEDGFEVQPLHPDKAQIPIVGSNGSSRLQDSRI
uniprot
proteins
disease_involvement
DISEASE: Glycine encephalopathy with normal serum glycine (GCENSG) [MIM:617301]: An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. {ECO:0000269|PubMed:27481395, ECO:0000269|PubMed:27773429}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Scoliosis, isolated, 6 (IS6) [MIM:621428]: A form of idiopathic scoliosis, an abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. The transmission pattern of IS6 is consistent with autosomal dominant inheritance. {ECO:0000269|PubMed:37962965}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium- and chloride-dependent glycine transporter (PubMed:37962965, PubMed:8183239). Essential for regulating glycine concentrations at inhibitory glycinergic synapses. {ECO:0000250|UniProtKB:P28571, ECO:0000269|PubMed:37962965, ECO:0000269|PubMed:8183239}.; FUNCTION: [Isoform GlyT-1B]: Sodium- and chloride-dependent glycine transporter. {ECO:0000269|PubMed:8183239}.; FUNCTION: [Isoform GlyT-1C]: Sodium- and chloride-dependent glycine transporter. {ECO:0000269|PubMed:8183239}.
uniprot
proteins
mass_dalton
78260
uniprot
proteins
mutagenesis
MUTAGEN 687; /note="K->R: No effect on glycine transport. No effect on expression at the cell membrane."; /evidence="ECO:0000269|PubMed:37962965
uniprot
proteins
protein_family
SLC6A9 subfamily
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27481395
uniprot
proteins
pubmed
27773429
uniprot
proteins
pubmed
37962965
uniprot
proteins
pubmed
8183239
uniprot
proteins
sequence_length
706
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:37962965}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 109..129; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 136..156; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 188..208; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 286..306; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 315..335; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 360..380; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 407..427; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 450..470; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 506..526; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 530..550; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 570..590; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 610..630; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins