Protein-coding gene in the species Homo sapiens
SLC6A18 |
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Identifiers |
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Aliases | SLC6A18, Xtrp2, solute carrier family 6 member 18 |
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External IDs | OMIM: 610300 MGI: 1336892 HomoloGene: 40785 GeneCards: SLC6A18 |
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Gene location (Human) |
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| Chr. | Chromosome 5 (human)[1] |
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| Band | 5p15.33 | Start | 1,225,381 bp[1] |
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End | 1,246,189 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 13 (mouse)[2] |
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| Band | 13 C1|13 40.13 cM | Start | 73,809,871 bp[2] |
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End | 73,826,142 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - kidney
- metanephros
- renal cortex
- sural nerve
- intestinal epithelium
- liver
- small intestine
- mucosa of small intestine
- large intestine
- colon
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| Top expressed in | - proximal tubule
- kidney
- inner stripe of outer renal medulla
- proximal straight tubule
- yolk sac
- thin ascending limb of loop of Henle
- proximal convoluted tubule
- triceps brachii muscle
- right ventricle
- ankle
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | NM_001040692 NM_001136087 NM_001168643 NM_001168644 NM_001168645
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NM_001168646 NM_011730 |
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RefSeq (protein) | | NP_001035782 NP_001129559 NP_001162114 NP_001162115 NP_001162116
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NP_001162117 |
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Location (UCSC) | Chr 5: 1.23 – 1.25 Mb | Chr 13: 73.81 – 73.83 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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.
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.
By group |
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SLC1–10 |
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(1): | |
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(2): | |
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(3): | |
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(4): | |
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(5): | |
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(6): | |
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(7): | |
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(8): | |
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(9): | |
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(10): | |
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|
| SLC11–20 |
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(11): | - proton coupled metal ion transporter
|
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(12): | |
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(13): | - human Na+-sulfate/carboxylate cotransporter
|
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(14): | |
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(15): | - proton oligopeptide cotransporter
|
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(16): | - monocarboxylate transporter
|
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(17): | |
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(18): | |
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(19): | |
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(20): | - type III Na+-phosphate cotransporter
|
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| SLC21–30 |
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(21): | |
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(22): | |
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(23): | - Na+-dependent ascorbic acid transporter
|
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(24): | |
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(25): | |
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(26): | - multifunctional anion exchanger
|
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(27): | |
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(28): | - Na+-coupled nucleoside transport (SLC28A1
|
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(29): | - facilitative nucleoside transporter
|
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(30): | |
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| SLC31–40 |
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(31): | |
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(32): | |
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(33): | |
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(34): | - type II Na+-phosphate cotransporter
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(35): | - nucleoside-sugar transporter
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-
-
-
- SLC35E1
- SLC35E2
- SLC35E3
- SLC35E4
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(36): | - proton-coupled amino-acid transporter
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(37): | - sugar-phosphate/phosphate exchanger
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(38): | - System A & N, sodium-coupled neutral amino-acid transporter
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(39): | |
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(40): | - basolateral iron transporter
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| SLC41–48 |
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(41): | |
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(42): | |
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(43): | - Na+-independent, system-L like amino-acid transporter
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(44): | |
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(45): | - Putative sugar transporter
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(46): | |
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(47): | |
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(48): | |
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see also solute carrier disorders |
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