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Protein

Sodium-dependent neutral amino acid transporter B(0)AT3

Gene

SLC6A18

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

Functioni

Functions as a sodium and chloride-dependent neutral amino acid transporter.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Neurotransmitter transport, Symport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164363-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.
R-HSA-442660. Na+/Cl- dependent neurotransmitter transporters.

Protein family/group databases

TCDBi2.A.22.6.4. the neurotransmitter:sodium symporter (nss) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium-dependent neutral amino acid transporter B(0)AT3
Alternative name(s):
Sodium- and chloride-dependent transporter XTRP2
Solute carrier family 6 member 18
System B(0) neutral amino acid transporter AT3
Gene namesi
Name:SLC6A18
Synonyms:XTRP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:26441. SLC6A18.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 26CytoplasmicSequence analysisAdd BLAST26
Transmembranei27 – 47Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini48 – 51ExtracellularSequence analysis4
Transmembranei52 – 74Helical; Name=2Sequence analysisAdd BLAST23
Topological domaini75 – 88CytoplasmicSequence analysisAdd BLAST14
Transmembranei89 – 111Helical; Name=3Sequence analysisAdd BLAST23
Topological domaini112 – 178ExtracellularSequence analysisAdd BLAST67
Transmembranei179 – 201Helical; Name=4Sequence analysisAdd BLAST23
Topological domaini202 – 207CytoplasmicSequence analysis6
Transmembranei208 – 230Helical; Name=5Sequence analysisAdd BLAST23
Topological domaini231 – 253ExtracellularSequence analysisAdd BLAST23
Transmembranei254 – 276Helical; Name=6Sequence analysisAdd BLAST23
Topological domaini277 – 288CytoplasmicSequence analysisAdd BLAST12
Transmembranei289 – 311Helical; Name=7Sequence analysisAdd BLAST23
Topological domaini312 – 399ExtracellularSequence analysisAdd BLAST88
Transmembranei400 – 422Helical; Name=8Sequence analysisAdd BLAST23
Topological domaini423 – 442CytoplasmicSequence analysisAdd BLAST20
Transmembranei443 – 465Helical; Name=9Sequence analysisAdd BLAST23
Topological domaini466 – 474ExtracellularSequence analysis9
Transmembranei475 – 497Helical; Name=10Sequence analysisAdd BLAST23
Topological domaini498 – 517CytoplasmicSequence analysisAdd BLAST20
Transmembranei518 – 540Helical; Name=11Sequence analysisAdd BLAST23
Topological domaini541 – 568ExtracellularSequence analysisAdd BLAST28
Transmembranei569 – 591Helical; Name=12Sequence analysisAdd BLAST23
Topological domaini592 – 628CytoplasmicSequence analysisAdd BLAST37

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Genetic variations in SLC6A18 might contribute to the disease phentotype in some individuals with iminoglycinuria or hyperglycinuria, that carry variants in SLC36A2, SLC6A19 or SLC6A20 (PubMed:19033659).

Organism-specific databases

DisGeNETi348932.
MalaCardsiSLC6A18.
OpenTargetsiENSG00000164363.
Orphaneti42062. Iminoglycinuria.
PharmGKBiPA134982449.

Polymorphism and mutation databases

BioMutaiSLC6A18.
DMDMi313104185.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002148061 – 628Sodium-dependent neutral amino acid transporter B(0)AT3Add BLAST628

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi144N-linked (GlcNAc...)Sequence analysis1
Glycosylationi168N-linked (GlcNAc...)Sequence analysis1
Glycosylationi174N-linked (GlcNAc...)Sequence analysis1
Glycosylationi354N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96N87.
PeptideAtlasiQ96N87.
PRIDEiQ96N87.

PTM databases

iPTMnetiQ96N87.
PhosphoSitePlusiQ96N87.

Expressioni

Tissue specificityi

Abundantly expressed in kidney, but not in intestine.1 Publication

Gene expression databases

BgeeiENSG00000164363.
CleanExiHS_SLC6A18.
GenevisibleiQ96N87. HS.

Organism-specific databases

HPAiHPA011885.

Interactioni

Subunit structurei

Associates with TMEM27. TMEM27 association is required for functional expression in kidney.By similarity

Protein-protein interaction databases

MINTiMINT-4723009.
STRINGi9606.ENSP00000323549.

Structurei

3D structure databases

ProteinModelPortaliQ96N87.
SMRiQ96N87.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ96N87.
KOiK05048.
OMAiKLYPGWV.
OrthoDBiEOG091G08PX.
PhylomeDBiQ96N87.
TreeFamiTF343812.

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.

Q96N87-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAHAPEPDPA ACDLGDERPK WDNKAQYLLS CTGFAVGLGN IWRFPYLCQT
60 70 80 90 100
YGGGAFLIPY VIALVFEGIP IFHVELAIGQ RLRKGSVGVW TAISPYLSGV
110 120 130 140 150
GLGCVTLSFL ISLYYNTIVA WVLWYLLNSF QHPLPWSSCP PDLNRTGFVE
160 170 180 190 200
ECQGSSAVSY FWYRQTLNIT ADINDSGSIQ WWLLICLAAS WAVVYMCVIR
210 220 230 240 250
GIETTGKVIY FTALFPYLVL TIFLIRGLTL PGATKGLIYL FTPNMHILQN
260 270 280 290 300
PRVWLDAATQ IFFSLSLAFG GHIAFASYNS PRNDCQKDAV VIALVNRMTS
310 320 330 340 350
LYASIAVFSV LGFKATNDYE HCLDRNILSL INDFDFPEQS ISRDDYPAVL
360 370 380 390 400
MHLNATWPKR VAQLPLKACL LEDFLDKSAS GPGLAFVVFT ETDLHMPGAP
410 420 430 440 450
VWAMLFFGML FTLGLSTMFG TVEAVITPLL DVGVLPRWVP KEALTGLVCL
460 470 480 490 500
VCFLSATCFT LQSGNYWLEI FDNFAASPNL LMLAFLEVVG VVYVYGMKRF
510 520 530 540 550
CDDIAWMTGR RPSPYWRLTW RVVSPLLLTI FVAYIILLFW KPLRYKAWNP
560 570 580 590 600
KYELFPSRQE KLYPGWARAA CVLLSLLPVL WVPVAALAQL LTRRRRTWRD
610 620
RDARPDTDMR PDTDTRPDTD MRPDTDMR
Length:628
Mass (Da):70,897
Last modified:November 30, 2010 - v2
Checksum:iDDFA217424060095
GO

Polymorphismi

Genetic variation in SLC6A18 is not a significant predictor for elevated systolic or diastolic blood pressure and is not associated with hypertension in the Japanese population (PubMed:16340170).1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0572104A → D.Corresponds to variant rs34469326dbSNPEnsembl.1
Natural variantiVAR_02797512C → S.Corresponds to variant rs7728667dbSNPEnsembl.1
Natural variantiVAR_02797632T → I.1 PublicationCorresponds to variant rs7705355dbSNPEnsembl.1
Natural variantiVAR_06479679G → S.1 PublicationCorresponds to variant rs113861454dbSNPEnsembl.1
Natural variantiVAR_027977478P → L.2 PublicationsCorresponds to variant rs4073918dbSNPEnsembl.1
Natural variantiVAR_064797496G → R.1 PublicationCorresponds to variant rs147278493dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055798 mRNA. Translation: BAB71018.1.
AC114291 Genomic DNA. No translation available.
BC056757 mRNA. Translation: AAH56757.1.
CCDSiCCDS3860.1.
RefSeqiNP_872438.2. NM_182632.2.
UniGeneiHs.213284.

Genome annotation databases

EnsembliENST00000324642; ENSP00000323549; ENSG00000164363.
GeneIDi348932.
KEGGihsa:348932.
UCSCiuc003jby.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055798 mRNA. Translation: BAB71018.1.
AC114291 Genomic DNA. No translation available.
BC056757 mRNA. Translation: AAH56757.1.
CCDSiCCDS3860.1.
RefSeqiNP_872438.2. NM_182632.2.
UniGeneiHs.213284.

3D structure databases

ProteinModelPortaliQ96N87.
SMRiQ96N87.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

MINTiMINT-4723009.
STRINGi9606.ENSP00000323549.

Protein family/group databases

TCDBi2.A.22.6.4. the neurotransmitter:sodium symporter (nss) family.

PTM databases

iPTMnetiQ96N87.
PhosphoSitePlusiQ96N87.

Polymorphism and mutation databases

BioMutaiSLC6A18.
DMDMi313104185.

Proteomic databases

PaxDbiQ96N87.
PeptideAtlasiQ96N87.
PRIDEiQ96N87.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324642; ENSP00000323549; ENSG00000164363.
GeneIDi348932.
KEGGihsa:348932.
UCSCiuc003jby.2. human.

Organism-specific databases

CTDi348932.
DisGeNETi348932.
GeneCardsiSLC6A18.
H-InvDBHIX0004720.
HGNCiHGNC:26441. SLC6A18.
HPAiHPA011885.
MalaCardsiSLC6A18.
MIMi610300. gene.
neXtProtiNX_Q96N87.
OpenTargetsiENSG00000164363.
Orphaneti42062. Iminoglycinuria.
PharmGKBiPA134982449.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ96N87.
KOiK05048.
OMAiKLYPGWV.
OrthoDBiEOG091G08PX.
PhylomeDBiQ96N87.
TreeFamiTF343812.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164363-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.
R-HSA-442660. Na+/Cl- dependent neurotransmitter transporters.

Miscellaneous databases

GeneWikiiSLC6A18.
GenomeRNAii348932.
PROiQ96N87.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164363.
CleanExiHS_SLC6A18.
GenevisibleiQ96N87. 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 nameiS6A18_HUMAN
AccessioniPrimary (citable) accession number: Q96N87
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: November 30, 2010
Last modified: November 30, 2016
This is version 117 of the entry and version 2 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 5
    Human chromosome 5: 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.