SLC6A18: Difference between revisions

SLC6A18
Identifiers
Aliases	SLC6A18, Xtrp2, solute carrier family 6 member 18
External IDs	OMIM: 610300; MGI: 1336892; HomoloGene: 40785; GeneCards: SLC6A18; OMA:SLC6A18 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	1,246,189 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	73,826,142 bp
RNA expression pattern
	Top expressed in
	metanephros; ; renal cortex; ; sural nerve; ; intestinal epithelium; ; liver; ; small intestine; ; mucosa of small intestine; ; human kidney; ; hemolymphoid system; ; large intestine;
	Top expressed in
	right kidney; ; proximal tubule; ; human kidney; ; inner stripe of outer renal medulla; ; proximal straight tubule; ; yolk sac; ; thin ascending limb of loop of Henle; ; proximal convoluted tubule; ; primary visual cortex; ; triceps brachii muscle;
	More reference expression data
	n/a
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
	348932
	22598
	ENSG00000164363
	ENSMUSG00000021612
	Q96N87
	O88576
	NM_182632
NM_001040692; NM_001136087; NM_001168643; NM_001168644; NM_001168645;
	NM_001168646; NM_011730
	NP_872438
NP_001035782; NP_001129559; NP_001162114; NP_001162115; NP_001162116;
	NP_001162117
	Wikidata
View/Edit Human	View/Edit Mouse

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Latest revision as of 10:14, 13 August 2023

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164363 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021612 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b 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.
^ "Entrez Gene: SLC6A18".
^ 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.

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.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000164363 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid12477932-5] 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.

[pmid16125675-6] 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.

[entrez-7] "Entrez Gene: SLC6A18".

[pmid19033659-8] 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.

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@@ Line 1: / Line 1: @@
+{{Short description|Protein-coding gene in the species Homo sapiens}}
 {{Infobox_gene}}
-'''Solute carrier family 6, member 18''' also known as '''SLC6A18''' is a [[protein]] which in humans is encoded by the ''SLC6A18'' [[gene]].<ref name="pmid12477932">{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal | title = Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 99 | issue = 26 | pages = 16899–903 |date=December 2002 | pmid = 12477932 | pmc = 139241 | doi = 10.1073/pnas.242603899 | url = | issn = }}</ref><ref name="pmid16125675"/>
+'''Solute carrier family 6, member 18''' also known as '''SLC6A18''' is a [[protein]] which in humans is encoded by the ''SLC6A18'' [[gene]].<ref name="pmid12477932">{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal | title = Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 99 | issue = 26 | pages = 16899–903 |date=December 2002 | pmid = 12477932 | pmc = 139241 | doi = 10.1073/pnas.242603899 | bibcode = 2002PNAS...9916899M | doi-access = free }}</ref><ref name="pmid16125675"/>
 == 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.<ref name="pmid16125675">{{cite journal | author = Höglund PJ, Adzic D, Scicluna SJ, Lindblom J, Fredriksson R | title = The repertoire of solute carriers of family 6: identification of new human and rodent genes | journal = Biochem. Biophys. Res. Commun. | volume = 336 | issue = 1 | pages = 175–89 |date=October 2005 | pmid = 16125675 | doi = 10.1016/j.bbrc.2005.08.048 | url = | issn = }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC6A18  | url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=348932 | accessdate = }}</ref>
+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.<ref name="pmid16125675">{{cite journal | vauthors = Höglund PJ, Adzic D, Scicluna SJ, Lindblom J, Fredriksson R | title = The repertoire of solute carriers of family 6: identification of new human and rodent genes | journal = Biochem. Biophys. Res. Commun. | volume = 336 | issue = 1 | pages = 175–89 |date=October 2005 | pmid = 16125675 | doi = 10.1016/j.bbrc.2005.08.048 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC6A18  | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=348932 }}</ref>
 == Clinical significance ==
-Mutations in the SLC6A18 gene are associated with [[iminoglycinuria]].<ref name="pmid19033659">{{cite journal | author = Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE | title = Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters | journal = J. Clin. Invest. | volume = 118| issue = 12| pages = 3881–92|date=November 2008 | pmid = 19033659 | pmc = 2579706 | doi = 10.1172/JCI36625 | url = | issn = }}</ref>
+Mutations in the SLC6A18 gene are associated with [[iminoglycinuria]].<ref name="pmid19033659">{{cite journal | vauthors = Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE | title = Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters | journal = J. Clin. Invest. | volume = 118| issue = 12| pages = 3881–92|date=November 2008 | pmid = 19033659 | pmc = 2579706 | doi = 10.1172/JCI36625 }}</ref>
 == References ==
@@ Line 17: / Line 18: @@
 {{refbegin | 2}}
 *{{cite journal   |vauthors=Guey LT, García-Closas M, Murta-Nascimento C, etal |title=Genetic susceptibility to distinct bladder cancer subphenotypes. |journal=Eur. Urol. |volume=57 |issue= 2 |pages= 283–92 |year= 2010 |pmid= 19692168 |doi= 10.1016/j.eururo.2009.08.001 |pmc=3220186}}
-*{{cite journal   |vauthors=Eslami B, Kinboshi M, Inoue S, etal |title=A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese. |journal=Tohoku J. Exp. Med. |volume=208 |issue= 1 |pages= 25–31 |year= 2006 |pmid= 16340170 |doi=10.1620/tjem.208.25  }}
+*{{cite journal   |vauthors=Eslami B, Kinboshi M, Inoue S, etal |title=A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese. |journal=Tohoku J. Exp. Med. |volume=208 |issue= 1 |pages= 25–31 |year= 2006 |pmid= 16340170 |doi=10.1620/tjem.208.25  |doi-access=free }}
-*{{cite journal   |vauthors=Singer D, Camargo SM, Huggel K, etal |title=Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3. |journal=J. Biol. Chem. |volume=284 |issue= 30 |pages= 19953–60 |year= 2009 |pmid= 19478081 |doi= 10.1074/jbc.M109.011171  |pmc=2740421 }}
+*{{cite journal   |vauthors=Singer D, Camargo SM, Huggel K, etal |title=Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3. |journal=J. Biol. Chem. |volume=284 |issue= 30 |pages= 19953–60 |year= 2009 |pmid= 19478081 |doi= 10.1074/jbc.M109.011171  |pmc=2740421 |doi-access=free }}
 *{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  |pmc=528928 }}
-*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
-*{{cite journal   |vauthors=Kleta R, Romeo E, Ristic Z, etal |title=Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. |journal=Nat. Genet. |volume=36 |issue= 9 |pages= 999–1002 |year= 2004 |pmid= 15286787 |doi= 10.1038/ng1405 }}
+*{{cite journal   |vauthors=Kleta R, Romeo E, Ristic Z, etal |title=Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. |journal=Nat. Genet. |volume=36 |issue= 9 |pages= 999–1002 |year= 2004 |pmid= 15286787 |doi= 10.1038/ng1405 |s2cid=155361 |doi-access=free }}
 *{{cite journal  |author=Bröer S |title=Amino acid transport across mammalian intestinal and renal epithelia. |journal=Physiol. Rev. |volume=88 |issue= 1 |pages= 249–86 |year= 2008 |pmid= 18195088 |doi= 10.1152/physrev.00018.2006 }}
 *{{cite journal   |vauthors=Yoon YH, Seol SY, Heo J, etal |title=Analysis of VNTRs in the solute carrier family 6, member 18 (SLC6A18) and lack of association with hypertension. |journal=DNA Cell Biol. |volume=27 |issue= 10 |pages= 559–67 |year= 2008 |pmid= 18554081 |doi= 10.1089/dna.2008.0755 }}
@@ Line 29: / Line 30: @@
 {{Membrane transport proteins}}
+[[Category:Solute carrier family]]

Latest revision as of 10:14, 13 August 2023

Function

Clinical significance

References

Further reading