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Q96N87

- S6A18_HUMAN

UniProt

Q96N87 - S6A18_HUMAN

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Protein
Sodium-dependent neutral amino acid transporter B(0)AT3
Gene
SLC6A18, XTRP2
Organism
Homo sapiens (Human)
Status
Reviewed - 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 transport Source: Reactome
  2. ion transport Source: Reactome
  3. 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 – 2626Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei27 – 4721Helical; Name=1; Reviewed prediction
Add
BLAST
Topological domaini48 – 514Extracellular Reviewed prediction
Transmembranei52 – 7423Helical; Name=2; Reviewed prediction
Add
BLAST
Topological domaini75 – 8814Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei89 – 11123Helical; Name=3; Reviewed prediction
Add
BLAST
Topological domaini112 – 17867Extracellular Reviewed prediction
Add
BLAST
Transmembranei179 – 20123Helical; Name=4; Reviewed prediction
Add
BLAST
Topological domaini202 – 2076Cytoplasmic Reviewed prediction
Transmembranei208 – 23023Helical; Name=5; Reviewed prediction
Add
BLAST
Topological domaini231 – 25323Extracellular Reviewed prediction
Add
BLAST
Transmembranei254 – 27623Helical; Name=6; Reviewed prediction
Add
BLAST
Topological domaini277 – 28812Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei289 – 31123Helical; Name=7; Reviewed prediction
Add
BLAST
Topological domaini312 – 39988Extracellular Reviewed prediction
Add
BLAST
Transmembranei400 – 42223Helical; Name=8; Reviewed prediction
Add
BLAST
Topological domaini423 – 44220Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei443 – 46523Helical; Name=9; Reviewed prediction
Add
BLAST
Topological domaini466 – 4749Extracellular Reviewed prediction
Transmembranei475 – 49723Helical; Name=10; Reviewed prediction
Add
BLAST
Topological domaini498 – 51720Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei518 – 54023Helical; Name=11; Reviewed prediction
Add
BLAST
Topological domaini541 – 56828Extracellular Reviewed prediction
Add
BLAST
Transmembranei569 – 59123Helical; Name=12; Reviewed prediction
Add
BLAST
Topological domaini592 – 62837Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: InterPro
  2. 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)AT3
PRO_0000214806Add
BLAST

Amino acid modifications

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

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

ArrayExpressiQ96N87.
BgeeiQ96N87.
CleanExiHS_SLC6A18.
GenevestigatoriQ96N87.

Organism-specific databases

HPAiHPA011885.

Interactioni

Subunit structurei

Associates with TMEM27 By similarity. 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 18-310.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0733.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ96N87.
KOiK05048.
OMAiFDNFAAS.
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

MAHAPEPDPA ACDLGDERPK WDNKAQYLLS CTGFAVGLGN IWRFPYLCQT    50
YGGGAFLIPY VIALVFEGIP IFHVELAIGQ RLRKGSVGVW TAISPYLSGV 100
GLGCVTLSFL ISLYYNTIVA WVLWYLLNSF QHPLPWSSCP PDLNRTGFVE 150
ECQGSSAVSY FWYRQTLNIT ADINDSGSIQ WWLLICLAAS WAVVYMCVIR 200
GIETTGKVIY FTALFPYLVL TIFLIRGLTL PGATKGLIYL FTPNMHILQN 250
PRVWLDAATQ IFFSLSLAFG GHIAFASYNS PRNDCQKDAV VIALVNRMTS 300
LYASIAVFSV LGFKATNDYE HCLDRNILSL INDFDFPEQS ISRDDYPAVL 350
MHLNATWPKR VAQLPLKACL LEDFLDKSAS GPGLAFVVFT ETDLHMPGAP 400
VWAMLFFGML FTLGLSTMFG TVEAVITPLL DVGVLPRWVP KEALTGLVCL 450
VCFLSATCFT LQSGNYWLEI FDNFAASPNL LMLAFLEVVG VVYVYGMKRF 500
CDDIAWMTGR RPSPYWRLTW RVVSPLLLTI FVAYIILLFW KPLRYKAWNP 550
KYELFPSRQE KLYPGWARAA CVLLSLLPVL WVPVAALAQL LTRRRRTWRD 600
RDARPDTDMR PDTDTRPDTD MRPDTDMR 628
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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
AK055798 mRNA. Translation: BAB71018.1 .
AC114291 Genomic DNA. No translation available.
BC056757 mRNA. Translation: AAH56757.1 .
CCDSi CCDS3860.1.
RefSeqi NP_872438.2. NM_182632.2.
UniGenei Hs.213284.

3D structure databases

ProteinModelPortali Q96N87.
SMRi Q96N87. Positions 18-310.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

MINTi MINT-4723009.
STRINGi 9606.ENSP00000323549.

Protein family/group databases

TCDBi 2.A.22.6.4. the neurotransmitter:sodium symporter (nss) family.

PTM databases

PhosphoSitei Q96N87.

Polymorphism databases

DMDMi 313104185.

Proteomic databases

PaxDbi Q96N87.
PRIDEi Q96N87.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324642 ; ENSP00000323549 ; ENSG00000164363 .
GeneIDi 348932.
KEGGi hsa:348932.
UCSCi uc003jby.2. human.

Organism-specific databases

CTDi 348932.
GeneCardsi GC05P001281.
H-InvDB HIX0004720.
HGNCi HGNC:26441. SLC6A18.
HPAi HPA011885.
MIMi 610300. gene.
neXtProti NX_Q96N87.
Orphaneti 42062. Iminoglycinuria.
PharmGKBi PA134982449.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0733.
HOGENOMi HOG000116406.
HOVERGENi HBG071421.
InParanoidi Q96N87.
KOi K05048.
OMAi FDNFAAS.
OrthoDBi EOG793B71.
PhylomeDBi Q96N87.
TreeFami TF343812.

Enzyme and pathway databases

Reactomei REACT_13796. Amino acid transport across the plasma membrane.
REACT_20506. Na+/Cl- dependent neurotransmitter transporters.

Miscellaneous databases

GeneWikii SLC6A18.
GenomeRNAii 348932.
NextBioi 99455.
PROi Q96N87.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96N87.
Bgeei Q96N87.
CleanExi HS_SLC6A18.
Genevestigatori Q96N87.

Family and domain databases

InterProi IPR000175. Na/ntran_symport.
IPR002438. Na/ntran_symport_orphan.
[Graphical view ]
PANTHERi PTHR11616. PTHR11616. 1 hit.
Pfami PF00209. SNF. 1 hit.
[Graphical view ]
PRINTSi PR00176. NANEUSMPORT.
PR01206. ORPHTRNSPORT.
PROSITEi PS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 98 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

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