SLC6A17
entrez
388662
canonical
uniprot
Q9H1V8
canonical
ensembl
ENSG00000197106
resolver
ensp
ENSP00000330199
resolver
enst
ENST00000331565
resolver
genesymbol
SLC6A17
resolver
genesymbol_syn
NTT4
resolver
hgnc
HGNC:31399
resolver
uniprot
A6NEA8
resolver
uniprot
A8K1R7
resolver
uniprot
B9EIR5
resolver
uniprot
Q5T5Q9
resolver
uniprot_entry
S6A17_HUMAN
resolver
uniprot_sec
A6NEA8
resolver
uniprot_sec
A8K1R7
resolver
uniprot_sec
B9EIR5
resolver
uniprot_sec
Q5T5Q9
resolver
amino_acid_sequence
MPKNSKVTQREHSSEHVTESVADLLALEEPVDYKQSVLNVAGEAGGKQKAVEEELDAEDRPAWNSKLQYILAQIGFSVGLGNIWRFPYLCQKNGGGAYLVPYLVLLIIIGIPLFFLELAVGQRIRRGSIGVWHYICPRLGGIGFSSCIVCLFVGLYYNVIIGWSIFYFFKSFQYPLPWSECPVVRNGSVAVVEAECEKSSATTYFWYREALDISDSISESGGLNWKMTLCLLVAWSIVGMAVVKGIQSSGKVMYFSSLFPYVVLACFLVRGLLLRGAVDGILHMFTPKLDKMLDPQVWREAATQVFFALGLGFGGVIAFSSYNKQDNNCHFDAALVSFINFFTSVLATLVVFAVLGFKANIMNEKCVVENAEKILGYLNTNVLSRDLIPPHVNFSHLTTKDYMEMYNVIMTVKEDQFSALGLDPCLLEDELDKSVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLINLGLGSMIGTMAGITTPIIDTFKVPKEMFTVGCCVFAFLVGLLFVQRSGNYFVTMFDDYSATLPLTLIVILENIAVAWIYGTKKFMQELTEMLGFRPYRFYFYMWKFVSPLCMAVLTTASIIQLGVTPPGYSAWIKEEAAERYLYFPNWAMALLITLIVVATLPIPVVFVLRHFHLLSDGSNTLSVSYKKGRMMKDISNLEENDETRFILSKVPSEAPSPMPTHRSYLGPGSTSPLETSGNPNGRYGSGYLLASTPESEL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 48 (MRT48) [MIM:616269]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. {ECO:0000269|PubMed:25704603}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Synaptic vesicle transporter with apparent selectivity for neutral amino acids. The transport is sodium-coupled but chloride-independent, likely driven by the proton electrochemical gradient generated by vacuolar H(+)-ATPase in an overall electrogenic mechanism. May contribute to the synaptic uptake of neurotransmitter precursors in a process coupled in part to vesicle exocytosis. {ECO:0000250|UniProtKB:P31662}.
uniprot
proteins
mass_dalton
81001
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16125675
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
25704603
uniprot
proteins
sequence_length
727
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:P31662}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P31662}. Postsynapse {ECO:0000250|UniProtKB:Q8BJI1}. Presynapse {ECO:0000250|UniProtKB:Q8BJI1}. Note=Localizes at synaptic junctions - at both pre- and post-synaptic sites - particularly in excitatory glutamatergic terminals. {ECO:0000250|UniProtKB:Q8BJI1}.
uniprot
proteins
transmembrane_region
TRANSMEM 70..90; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 96..116; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 148..168; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 223..243; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 254..274; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 301..321; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 335..355; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 461..481; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 491..511; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 528..548; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 574..594; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 618..638; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins