SLC6A5
entrez
9152
canonical
uniprot
Q9Y345
canonical
ensembl
ENSG00000165970
resolver
ensp
ENSP00000434364
resolver
genesymbol
SLC6A5
resolver
genesymbol_syn
GLYT2
resolver
genesymbol_syn
NET1
resolver
hgnc
HGNC:11051
resolver
uniprot
O95288
resolver
uniprot
Q4VAM4
resolver
uniprot
Q4VAM6
resolver
uniprot
Q4VAM7
resolver
uniprot
Q9BX77
resolver
uniprot_entry
Q4VAM4_HUMAN
resolver
uniprot_entry
Q4VAM6_HUMAN
resolver
uniprot_entry
SC6A5_HUMAN
resolver
uniprot_sec
O95288
resolver
uniprot_sec
Q4VAM7
resolver
uniprot_sec
Q9BX77
resolver
amino_acid_sequence
MDCSAPKEMNKLPANSPEAAAAQGHPDGPCAPRTSPEQELPAAAAPPPPRVPRSASTGAQTFQSADARACEAERPGVGSCKLSSPRAQAASAALRDLREAQGAQASPPPGSSGPGNALHCKIPFLRGPEGDANVSVGKGTLERNNTPVVGWVNMSQSTVVLATDGITSVLPGSVATVATQEDEQGDENKARGNWSSKLDFILSMVGYAVGLGNVWRFPYLAFQNGGGAFLIPYLMMLALAGLPIFFLEVSLGQFASQGPVSVWKAIPALQGCGIAMLIISVLIAIYYNVIICYTLFYLFASFVSVLPWGSCNNPWNTPECKDKTKLLLDSCVISDHPKIQIKNSTFCMTAYPNVTMVNFTSQANKTFVSGSEEYFKYFVLKISAGIEYPGEIRWPLALCLFLAWVIVYASLAKGIKTSGKVVYFTATFPYVVLVILLIRGVTLPGAGAGIWYFITPKWEKLTDATVWKDAATQIFFSLSAAWGGLITLSSYNKFHNNCYRDTLIVTCTNSATSIFAGFVIFSVIGFMANERKVNIENVADQGPGIAFVVYPEALTRLPLSPFWAIIFFLMLLTLGLDTMFATIETIVTSISDEFPKYLRTHKPVFTLGCCICFFIMGFPMITQGGIYMFQLVDTYAASYALVIIAIFELVGISYVYGLQRFCEDIEMMIGFQPNIFWKVCWAFVTPTILTFILCFSFYQWEPMTYGSYRYPNWSMVLGWLMLACSVIWIPIMFVIKMHLAPGRFIERLKLVCSPQPDWGPFLAQHRGERYKNMIDPLGTSSLGLKLPVKDLELGTQC
uniprot
proteins
disease_involvement
DISEASE: Hyperekplexia 3 (HKPX3) [MIM:614618]: A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life. {ECO:0000269|PubMed:16751771, ECO:0000269|PubMed:31370103, ECO:0000269|PubMed:40725001}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium- and chloride-dependent glycine transporter (PubMed:10381548, PubMed:10606742, PubMed:16751771, PubMed:31370103, PubMed:9845349). Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals (PubMed:9845349). May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses (PubMed:9845349). {ECO:0000269|PubMed:10381548, ECO:0000269|PubMed:10606742, ECO:0000269|PubMed:16751771, ECO:0000269|PubMed:31370103, ECO:0000269|PubMed:40725001, ECO:0000269|PubMed:9845349}.; FUNCTION: [Isoform 2]: Lacks sodium- and chloride-dependent glycine transporter activity. {ECO:0000269|PubMed:10381548}.; FUNCTION: [Isoform 3]: Lacks sodium- and chloride-dependent glycine transporter activity. {ECO:0000269|PubMed:10381548}.
uniprot
proteins
mass_dalton
87434
uniprot
proteins
mutagenesis
MUTAGEN 449; /note="G->A: Loss of glycine transport."; /evidence="ECO:0000269|PubMed:40725001"; MUTAGEN 705; /note="Y->A: Decreased surface expression. Decreased glycine transport."; /evidence="ECO:0000269|PubMed:22753417"; MUTAGEN 705; /note="Y->E: Decreased glycine transport."; /evidence="ECO:0000269|PubMed:22753417"; MUTAGEN 705; /note="Y->F: No effect on glycine transport."; /evidence="ECO:0000269|PubMed:22753417"; MUTAGEN 705; /note="Y->K: No effect on glycine transport."; /evidence="ECO:0000269|PubMed:22753417
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:31370103}.
uniprot
proteins
protein_family
SLC6A5 subfamily
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
10381548
uniprot
proteins
pubmed
10606742
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16751771
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
22753417
uniprot
proteins
pubmed
31370103
uniprot
proteins
pubmed
40725001
uniprot
proteins
pubmed
9845349
uniprot
proteins
sequence_length
797
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16751771, ECO:0000269|PubMed:31370103, ECO:0000269|PubMed:40725001}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 200..220; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 228..247; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 271..291; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 394..412; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 421..438; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 474..491; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 503..524; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 557..576; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 604..622; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 638..658; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 679..698; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 717..735; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins