SLC6A18

SLC6A18
Identifiers
Aliases	SLC6A18 , Xtrp2, solute carrier family 6 member 18
External IDs	OMIM: 610300 MGI: 1336892 HomoloGene: 40785 GeneCards: SLC6A18
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5p15.33 Start 1,225,381 bp [1] End 1,246,189 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13 C1|13 40.13 cM Start 73,661,752 bp [2] End 73,678,023 bp [2]
Gene ontology Molecular function • neurotransmitter:sodium symporter activity • symporter activity • transporter activity • amino acid transmembrane transporter activity • neutral amino acid transmembrane transporter activity Cellular component • integral component of membrane • integral component of plasma membrane • membrane • brush border membrane • plasma membrane • apical plasma membrane Biological process • amino acid transmembrane transport • neurotransmitter transport • amino acid transport • transmembrane transport • neutral amino acid transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	348932	22598
Ensembl	ENSG00000164363	ENSMUSG00000021612
UniProt	Q96N87	O88576
RefSeq (mRNA)	NM_182632	NM_001040692 NM_001136087 NM_001168643 NM_001168644 NM_001168645 NM_001168646 NM_011730
RefSeq (protein)	NP_872438	NP_001035782 NP_001129559 NP_001162114 NP_001162115 NP_001162116 NP_001162117
Location (UCSC)	Chr 5: 1.23 – 1.25 Mb	Chr 13: 73.66 – 73.68 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the SLC6A18 gene. ^{[5] [6]}

Function

The SLC6 family of proteins, which includes SLC6A18, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions. ^{[6] [7]}

Clinical significance

Mutations in the SLC6A18 gene are associated with iminoglycinuria. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000164363 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021612 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Strausberg RL, Feingold EA, Grouse LH, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC   139241 . PMID   12477932.
6. Höglund PJ, Adzic D, Scicluna SJ, Lindblom J, Fredriksson R (October 2005). "The repertoire of solute carriers of family 6: identification of new human and rodent genes". Biochem. Biophys. Res. Commun. 336 (1): 175–89. doi:10.1016/j.bbrc.2005.08.048. PMID   16125675.
7. "Entrez Gene: SLC6A18".
8. Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (November 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". J. Clin. Invest. 118 (12): 3881–92. doi:10.1172/JCI36625. PMC   2579706 . PMID   19033659.

Further reading

• Guey LT, García-Closas M, Murta-Nascimento C, et al. (2010). "Genetic susceptibility to distinct bladder cancer subphenotypes". Eur. Urol. 57 (2): 283–92. doi:10.1016/j.eururo.2009.08.001. PMC   3220186 . PMID   19692168.
• Eslami B, Kinboshi M, Inoue S, et al. (2006). "A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese". Tohoku J. Exp. Med. 208 (1): 25–31. doi: 10.1620/tjem.208.25 . PMID   16340170.
• Singer D, Camargo SM, Huggel K, et al. (2009). "Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3". J. Biol. Chem. 284 (30): 19953–60. doi:10.1074/jbc.M109.011171. PMC   2740421 . PMID   19478081.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Kleta R, Romeo E, Ristic Z, et al. (2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nat. Genet. 36 (9): 999–1002. doi:10.1038/ng1405. PMID   15286787. S2CID   155361.
• Bröer S (2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–86. doi:10.1152/physrev.00018.2006. PMID   18195088.
• Yoon YH, Seol SY, Heo J, et al. (2008). "Analysis of VNTRs in the solute carrier family 6, member 18 (SLC6A18) and lack of association with hypertension". DNA Cell Biol. 27 (10): 559–67. doi:10.1089/dna.2008.0755. PMID   18554081.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.