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Protein

Sodium-dependent neutral amino acid transporter SLC6A17

Gene

SLC6A17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Neurotransmitter transport, Symport, Transport

Enzyme and pathway databases

BioCyciZFISH:G66-31483-MONOMER.

Protein family/group databases

TCDBi2.A.22.6.6. the neurotransmitter:sodium symporter (nss) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium-dependent neutral amino acid transporter SLC6A17
Alternative name(s):
Sodium-dependent neurotransmitter transporter NTT4
Solute carrier family 6 member 17
Gene namesi
Name:SLC6A17
Synonyms:NTT4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:31399. SLC6A17.

Subcellular locationi

  • Cytoplasmic vesiclesecretory vesiclesynaptic vesicle membrane By similarity; Multi-pass membrane protein By similarity

  • Note: Localizes at synaptic junctions - at both pre- and post-synaptic sites - particularly in excitatory glutamatergic terminals.By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 69CytoplasmicSequence analysisAdd BLAST69
Transmembranei70 – 90Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini91 – 95ExtracellularSequence analysis5
Transmembranei96 – 116Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini117 – 147CytoplasmicSequence analysisAdd BLAST31
Transmembranei148 – 168Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini169 – 222ExtracellularSequence analysisAdd BLAST54
Transmembranei223 – 243Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini244 – 253CytoplasmicSequence analysis10
Transmembranei254 – 274Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini275 – 300ExtracellularSequence analysisAdd BLAST26
Transmembranei301 – 321Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini322 – 334CytoplasmicSequence analysisAdd BLAST13
Transmembranei335 – 355Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini356 – 460ExtracellularSequence analysisAdd BLAST105
Transmembranei461 – 481Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini482 – 490CytoplasmicSequence analysis9
Transmembranei491 – 511Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini512 – 527ExtracellularSequence analysisAdd BLAST16
Transmembranei528 – 548Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini549 – 573CytoplasmicSequence analysisAdd BLAST25
Transmembranei574 – 594Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini595 – 617ExtracellularSequence analysisAdd BLAST23
Transmembranei618 – 638Helical; Name=12Sequence analysisAdd BLAST21
Topological domaini639 – 727CytoplasmicSequence analysisAdd BLAST89

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 48 (MRT48)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, 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.
See also OMIM:616269
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073371162G → R in MRT48. 1 PublicationCorresponds to variant rs775085213dbSNPEnsembl.1
Natural variantiVAR_073372633P → R in MRT48. 1 PublicationCorresponds to variant rs375380880dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi388662.
MIMi616269. phenotype.
OpenTargetsiENSG00000197106.
PharmGKBiPA134941636.

Polymorphism and mutation databases

BioMutaiSLC6A17.
DMDMi59800227.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002148031 – 727Sodium-dependent neutral amino acid transporter SLC6A17Add BLAST727

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei13PhosphoserineBy similarity1
Modified residuei20PhosphoserineBy similarity1
Glycosylationi186N-linked (GlcNAc...)Sequence analysis1
Modified residuei377PhosphotyrosineBy similarity1
Glycosylationi393N-linked (GlcNAc...)Sequence analysis1
Modified residuei665PhosphoserineBy similarity1
Modified residuei701PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9H1V8.
PaxDbiQ9H1V8.
PeptideAtlasiQ9H1V8.
PRIDEiQ9H1V8.

PTM databases

iPTMnetiQ9H1V8.
PhosphoSitePlusiQ9H1V8.

Expressioni

Gene expression databases

BgeeiENSG00000197106.
CleanExiHS_SLC6A17.
GenevisibleiQ9H1V8. HS.

Organism-specific databases

HPAiHPA007663.
HPA008044.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000330199.

Structurei

3D structure databases

ProteinModelPortaliQ9H1V8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ9H1V8.
KOiK05048.
OMAiMEMYNVI.
OrthoDBiEOG091G08PX.
PhylomeDBiQ9H1V8.
TreeFamiTF352709.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 2 hits.
PfamiPF00209. SNF. 1 hit.
[Graphical view]
PRINTSiPR00176. NANEUSMPORT.
PR01206. ORPHTRNSPORT.
PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9H1V8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPKNSKVTQR EHSSEHVTES VADLLALEEP VDYKQSVLNV AGEAGGKQKA
60 70 80 90 100
VEEELDAEDR PAWNSKLQYI LAQIGFSVGL GNIWRFPYLC QKNGGGAYLV
110 120 130 140 150
PYLVLLIIIG IPLFFLELAV GQRIRRGSIG VWHYICPRLG GIGFSSCIVC
160 170 180 190 200
LFVGLYYNVI IGWSIFYFFK SFQYPLPWSE CPVVRNGSVA VVEAECEKSS
210 220 230 240 250
ATTYFWYREA LDISDSISES GGLNWKMTLC LLVAWSIVGM AVVKGIQSSG
260 270 280 290 300
KVMYFSSLFP YVVLACFLVR GLLLRGAVDG ILHMFTPKLD KMLDPQVWRE
310 320 330 340 350
AATQVFFALG LGFGGVIAFS SYNKQDNNCH FDAALVSFIN FFTSVLATLV
360 370 380 390 400
VFAVLGFKAN IMNEKCVVEN AEKILGYLNT NVLSRDLIPP HVNFSHLTTK
410 420 430 440 450
DYMEMYNVIM TVKEDQFSAL GLDPCLLEDE LDKSVQGTGL AFIAFTEAMT
460 470 480 490 500
HFPASPFWSV MFFLMLINLG LGSMIGTMAG ITTPIIDTFK VPKEMFTVGC
510 520 530 540 550
CVFAFLVGLL FVQRSGNYFV TMFDDYSATL PLTLIVILEN IAVAWIYGTK
560 570 580 590 600
KFMQELTEML GFRPYRFYFY MWKFVSPLCM AVLTTASIIQ LGVTPPGYSA
610 620 630 640 650
WIKEEAAERY LYFPNWAMAL LITLIVVATL PIPVVFVLRH FHLLSDGSNT
660 670 680 690 700
LSVSYKKGRM MKDISNLEEN DETRFILSKV PSEAPSPMPT HRSYLGPGST
710 720
SPLETSGNPN GRYGSGYLLA STPESEL
Length:727
Mass (Da):81,001
Last modified:February 1, 2005 - v3
Checksum:i454FAE5ACF53D9EB
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06181457A → T.1 PublicationCorresponds to variant rs12737742dbSNPEnsembl.1
Natural variantiVAR_073371162G → R in MRT48. 1 PublicationCorresponds to variant rs775085213dbSNPEnsembl.1
Natural variantiVAR_073372633P → R in MRT48. 1 PublicationCorresponds to variant rs375380880dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK289982 mRNA. Translation: BAF82671.1.
AL355990, AL137790 Genomic DNA. Translation: CAI18927.1.
AL137790, AL355990 Genomic DNA. Translation: CAI18832.1.
BC140908 mRNA. Translation: AAI40909.1.
CCDSiCCDS30799.1.
RefSeqiNP_001010898.1. NM_001010898.2.
XP_006710706.1. XM_006710643.2.
UniGeneiHs.128382.

Genome annotation databases

EnsembliENST00000331565; ENSP00000330199; ENSG00000197106.
GeneIDi388662.
KEGGihsa:388662.
UCSCiuc009wfq.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK289982 mRNA. Translation: BAF82671.1.
AL355990, AL137790 Genomic DNA. Translation: CAI18927.1.
AL137790, AL355990 Genomic DNA. Translation: CAI18832.1.
BC140908 mRNA. Translation: AAI40909.1.
CCDSiCCDS30799.1.
RefSeqiNP_001010898.1. NM_001010898.2.
XP_006710706.1. XM_006710643.2.
UniGeneiHs.128382.

3D structure databases

ProteinModelPortaliQ9H1V8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000330199.

Protein family/group databases

TCDBi2.A.22.6.6. the neurotransmitter:sodium symporter (nss) family.

PTM databases

iPTMnetiQ9H1V8.
PhosphoSitePlusiQ9H1V8.

Polymorphism and mutation databases

BioMutaiSLC6A17.
DMDMi59800227.

Proteomic databases

EPDiQ9H1V8.
PaxDbiQ9H1V8.
PeptideAtlasiQ9H1V8.
PRIDEiQ9H1V8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331565; ENSP00000330199; ENSG00000197106.
GeneIDi388662.
KEGGihsa:388662.
UCSCiuc009wfq.4. human.

Organism-specific databases

CTDi388662.
DisGeNETi388662.
GeneCardsiSLC6A17.
HGNCiHGNC:31399. SLC6A17.
HPAiHPA007663.
HPA008044.
MIMi610299. gene.
616269. phenotype.
neXtProtiNX_Q9H1V8.
OpenTargetsiENSG00000197106.
PharmGKBiPA134941636.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ9H1V8.
KOiK05048.
OMAiMEMYNVI.
OrthoDBiEOG091G08PX.
PhylomeDBiQ9H1V8.
TreeFamiTF352709.

Enzyme and pathway databases

BioCyciZFISH:G66-31483-MONOMER.

Miscellaneous databases

GenomeRNAii388662.
PROiQ9H1V8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197106.
CleanExiHS_SLC6A17.
GenevisibleiQ9H1V8. HS.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 2 hits.
PfamiPF00209. SNF. 1 hit.
[Graphical view]
PRINTSiPR00176. NANEUSMPORT.
PR01206. ORPHTRNSPORT.
PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS6A17_HUMAN
AccessioniPrimary (citable) accession number: Q9H1V8
Secondary accession number(s): A6NEA8
, A8K1R7, B9EIR5, Q5T5Q9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: February 1, 2005
Last modified: November 2, 2016
This is version 119 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.