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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

  1. neurotransmitter:sodium symporter activity Source: InterPro

GO - Biological processi

  1. amino acid transmembrane transport Source: Ensembl
  2. amino acid transport Source: Reactome
  3. ion transport Source: Reactome
  4. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Neurotransmitter transport, Symport, Transport

Enzyme and pathway databases

ReactomeiREACT_13796. Amino acid transport across the plasma membrane.
REACT_20506. 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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:26441. SLC6A18.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2626CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei27 – 4721Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini48 – 514ExtracellularSequence Analysis
Transmembranei52 – 7423Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini75 – 8814CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei89 – 11123Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini112 – 17867ExtracellularSequence AnalysisAdd
BLAST
Transmembranei179 – 20123Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini202 – 2076CytoplasmicSequence Analysis
Transmembranei208 – 23023Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini231 – 25323ExtracellularSequence AnalysisAdd
BLAST
Transmembranei254 – 27623Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini277 – 28812CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei289 – 31123Helical; Name=7Sequence AnalysisAdd
BLAST
Topological domaini312 – 39988ExtracellularSequence AnalysisAdd
BLAST
Transmembranei400 – 42223Helical; Name=8Sequence AnalysisAdd
BLAST
Topological domaini423 – 44220CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei443 – 46523Helical; Name=9Sequence AnalysisAdd
BLAST
Topological domaini466 – 4749ExtracellularSequence Analysis
Transmembranei475 – 49723Helical; Name=10Sequence AnalysisAdd
BLAST
Topological domaini498 – 51720CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei518 – 54023Helical; Name=11Sequence AnalysisAdd
BLAST
Topological domaini541 – 56828ExtracellularSequence AnalysisAdd
BLAST
Transmembranei569 – 59123Helical; Name=12Sequence AnalysisAdd
BLAST
Topological domaini592 – 62837CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. brush border membrane Source: Ensembl
  2. integral component of plasma membrane Source: InterPro
  3. plasma membrane Source: Reactome
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.

Organism-specific databases

Orphaneti42062. Iminoglycinuria.
PharmGKBiPA134982449.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 628628Sodium-dependent neutral amino acid transporter B(0)AT3PRO_0000214806Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi144 – 1441N-linked (GlcNAc...)Sequence Analysis
Glycosylationi168 – 1681N-linked (GlcNAc...)Sequence Analysis
Glycosylationi174 – 1741N-linked (GlcNAc...)Sequence Analysis
Glycosylationi354 – 3541N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96N87.
PRIDEiQ96N87.

PTM databases

PhosphoSiteiQ96N87.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ96N87.
CleanExiHS_SLC6A18.
GenevestigatoriQ96N87.

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. Positions 18-308.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0733.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ96N87.
KOiK05048.
OMAiVEWMTGR.
OrthoDBiEOG793B71.
PhylomeDBiQ96N87.
TreeFamiTF343812.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 1 hit.
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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41A → D.
Corresponds to variant rs34469326 [ dbSNP | Ensembl ].
VAR_057210
Natural varianti12 – 121C → S.
Corresponds to variant rs7728667 [ dbSNP | Ensembl ].
VAR_027975
Natural varianti32 – 321T → I.1 Publication
Corresponds to variant rs7705355 [ dbSNP | Ensembl ].
VAR_027976
Natural varianti79 – 791G → S.1 Publication
Corresponds to variant rs113861454 [ dbSNP | Ensembl ].
VAR_064796
Natural varianti478 – 4781P → L.2 Publications
Corresponds to variant rs4073918 [ dbSNP | Ensembl ].
VAR_027977
Natural varianti496 – 4961G → R.1 Publication
Corresponds to variant rs147278493 [ dbSNP | Ensembl ].
VAR_064797

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.

Polymorphism databases

DMDMi313104185.

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. Positions 18-308.
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

PhosphoSiteiQ96N87.

Polymorphism databases

DMDMi313104185.

Proteomic databases

PaxDbiQ96N87.
PRIDEiQ96N87.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi348932.
GeneCardsiGC05P001281.
H-InvDBHIX0004720.
HGNCiHGNC:26441. SLC6A18.
HPAiHPA011885.
MIMi610300. gene.
neXtProtiNX_Q96N87.
Orphaneti42062. Iminoglycinuria.
PharmGKBiPA134982449.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0733.
GeneTreeiENSGT00760000119044.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ96N87.
KOiK05048.
OMAiVEWMTGR.
OrthoDBiEOG793B71.
PhylomeDBiQ96N87.
TreeFamiTF343812.

Enzyme and pathway databases

ReactomeiREACT_13796. Amino acid transport across the plasma membrane.
REACT_20506. Na+/Cl- dependent neurotransmitter transporters.

Miscellaneous databases

GeneWikiiSLC6A18.
GenomeRNAii348932.
NextBioi99455.
PROiQ96N87.
SOURCEiSearch...

Gene expression databases

BgeeiQ96N87.
CleanExiHS_SLC6A18.
GenevestigatoriQ96N87.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 1 hit.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ILE-32 AND LEU-478.
    Tissue: Kidney.
  2. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon.
  4. Cited for: TISSUE SPECIFICITY.
  5. "A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese."
    Eslami B., Kinboshi M., Inoue S., Harada K., Inoue K., Koizumi A.
    Tohoku J. Exp. Med. 208:25-31(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: POLYMORPHISM, LACK OF ASSOCIATION WITH HYPERTENSION.
  6. "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters."
    Broer S., Bailey C.G., Kowalczuk S., Ng C., Vanslambrouck J.M., Rodgers H., Auray-Blais C., Cavanaugh J.A., Broer A., Rasko J.E.
    J. Clin. Invest. 118:3881-3892(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SER-79; LEU-478 AND ARG-496, POSSIBLE INVOLVEMENT IN HG AND IG.

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: February 4, 2015
This is version 102 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

External Data

Dasty 3

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 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.