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Q96N87 (S6A18_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC6A18
Synonyms:XTRP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length628 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subunit structure

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

Subcellular location

Membrane; Multi-pass membrane protein Probable.

Tissue specificity

Abundantly expressed in kidney, but not in intestine. Ref.4

Polymorphism

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.

Involvement in disease

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.

Sequence similarities

Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A18 subfamily. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 628628Sodium-dependent neutral amino acid transporter B(0)AT3
PRO_0000214806

Regions

Topological domain1 – 2626Cytoplasmic Potential
Transmembrane27 – 4721Helical; Name=1; Potential
Topological domain48 – 514Extracellular Potential
Transmembrane52 – 7423Helical; Name=2; Potential
Topological domain75 – 8814Cytoplasmic Potential
Transmembrane89 – 11123Helical; Name=3; Potential
Topological domain112 – 17867Extracellular Potential
Transmembrane179 – 20123Helical; Name=4; Potential
Topological domain202 – 2076Cytoplasmic Potential
Transmembrane208 – 23023Helical; Name=5; Potential
Topological domain231 – 25323Extracellular Potential
Transmembrane254 – 27623Helical; Name=6; Potential
Topological domain277 – 28812Cytoplasmic Potential
Transmembrane289 – 31123Helical; Name=7; Potential
Topological domain312 – 39988Extracellular Potential
Transmembrane400 – 42223Helical; Name=8; Potential
Topological domain423 – 44220Cytoplasmic Potential
Transmembrane443 – 46523Helical; Name=9; Potential
Topological domain466 – 4749Extracellular Potential
Transmembrane475 – 49723Helical; Name=10; Potential
Topological domain498 – 51720Cytoplasmic Potential
Transmembrane518 – 54023Helical; Name=11; Potential
Topological domain541 – 56828Extracellular Potential
Transmembrane569 – 59123Helical; Name=12; Potential
Topological domain592 – 62837Cytoplasmic Potential

Amino acid modifications

Glycosylation1441N-linked (GlcNAc...) Potential
Glycosylation1681N-linked (GlcNAc...) Potential
Glycosylation1741N-linked (GlcNAc...) Potential
Glycosylation3541N-linked (GlcNAc...) Potential

Natural variations

Natural variant41A → D.
Corresponds to variant rs34469326 [ dbSNP | Ensembl ].
VAR_057210
Natural variant121C → S.
Corresponds to variant rs7728667 [ dbSNP | Ensembl ].
VAR_027975
Natural variant321T → I. Ref.1
Corresponds to variant rs7705355 [ dbSNP | Ensembl ].
VAR_027976
Natural variant791G → S. Ref.6
Corresponds to variant rs113861454 [ dbSNP | Ensembl ].
VAR_064796
Natural variant4781P → L. Ref.1 Ref.6
Corresponds to variant rs4073918 [ dbSNP | Ensembl ].
VAR_027977
Natural variant4961G → R. Ref.6
Corresponds to variant rs147278493 [ dbSNP | Ensembl ].
VAR_064797

Sequences

Sequence LengthMass (Da)Tools
Q96N87 [UniParc].

Last modified November 30, 2010. Version 2.
Checksum: DDFA217424060095

FASTA62870,897
        10         20         30         40         50         60 
MAHAPEPDPA ACDLGDERPK WDNKAQYLLS CTGFAVGLGN IWRFPYLCQT YGGGAFLIPY 

        70         80         90        100        110        120 
VIALVFEGIP IFHVELAIGQ RLRKGSVGVW TAISPYLSGV GLGCVTLSFL ISLYYNTIVA 

       130        140        150        160        170        180 
WVLWYLLNSF QHPLPWSSCP PDLNRTGFVE ECQGSSAVSY FWYRQTLNIT ADINDSGSIQ 

       190        200        210        220        230        240 
WWLLICLAAS WAVVYMCVIR GIETTGKVIY FTALFPYLVL TIFLIRGLTL PGATKGLIYL 

       250        260        270        280        290        300 
FTPNMHILQN PRVWLDAATQ IFFSLSLAFG GHIAFASYNS PRNDCQKDAV VIALVNRMTS 

       310        320        330        340        350        360 
LYASIAVFSV LGFKATNDYE HCLDRNILSL INDFDFPEQS ISRDDYPAVL MHLNATWPKR 

       370        380        390        400        410        420 
VAQLPLKACL LEDFLDKSAS GPGLAFVVFT ETDLHMPGAP VWAMLFFGML FTLGLSTMFG 

       430        440        450        460        470        480 
TVEAVITPLL DVGVLPRWVP KEALTGLVCL VCFLSATCFT LQSGNYWLEI FDNFAASPNL 

       490        500        510        520        530        540 
LMLAFLEVVG VVYVYGMKRF CDDIAWMTGR RPSPYWRLTW RVVSPLLLTI FVAYIILLFW 

       550        560        570        580        590        600 
KPLRYKAWNP KYELFPSRQE KLYPGWARAA CVLLSLLPVL WVPVAALAQL LTRRRRTWRD 

       610        620 
RDARPDTDMR PDTDTRPDTD MRPDTDMR 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder."
Kleta R., Romeo E., Ristic Z., Ohura T., Stuart C., Arcos-Burgos M., Dave M.H., Wagner C.A., Camargo S.R.M., Inoue S., Matsuura N., Helip-Wooley A., Bockenhauer D., Warth R., Bernardini I., Visser G., Eggermann T., Lee P. expand/collapse author list , Chairoungdua A., Jutabha P., Babu E., Nilwarangkoon S., Anzai N., Kanai Y., Verrey F., Gahl W.A., Koizumi A.
Nat. Genet. 36:999-1002(2004) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK055798 mRNA. Translation: BAB71018.1.
AC114291 Genomic DNA. No translation available.
BC056757 mRNA. Translation: AAH56757.1.
CCDSCCDS3860.1.
RefSeqNP_872438.2. NM_182632.2.
UniGeneHs.213284.

3D structure databases

ProteinModelPortalQ96N87.
SMRQ96N87. Positions 18-310.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-4723009.
STRING9606.ENSP00000323549.

Protein family/group databases

TCDB2.A.22.6.4. the neurotransmitter:sodium symporter (nss) family.

PTM databases

PhosphoSiteQ96N87.

Polymorphism databases

DMDM313104185.

Proteomic databases

PaxDbQ96N87.
PRIDEQ96N87.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324642; ENSP00000323549; ENSG00000164363.
GeneID348932.
KEGGhsa:348932.
UCSCuc003jby.2. human.

Organism-specific databases

CTD348932.
GeneCardsGC05P001281.
H-InvDBHIX0004720.
HGNCHGNC:26441. SLC6A18.
HPAHPA011885.
MIM610300. gene.
neXtProtNX_Q96N87.
Orphanet42062. Iminoglycinuria.
PharmGKBPA134982449.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0733.
HOGENOMHOG000116406.
HOVERGENHBG071421.
InParanoidQ96N87.
KOK05048.
OMAFDNFAAS.
OrthoDBEOG793B71.
PhylomeDBQ96N87.
TreeFamTF343812.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.
REACT_19419. Amino acid and oligopeptide SLC transporters.
REACT_20679. Amine compound SLC transporters.

Gene expression databases

ArrayExpressQ96N87.
BgeeQ96N87.
CleanExHS_SLC6A18.
GenevestigatorQ96N87.

Family and domain databases

InterProIPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view]
PANTHERPTHR11616. PTHR11616. 1 hit.
PfamPF00209. SNF. 1 hit.
[Graphical view]
PRINTSPR00176. NANEUSMPORT.
PR01206. ORPHTRNSPORT.
PROSITEPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSLC6A18.
GenomeRNAi348932.
NextBio99455.
PROQ96N87.
SOURCESearch...

Entry information

Entry nameS6A18_HUMAN
AccessionPrimary (citable) accession number: Q96N87
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM