SLC6A20

Solute carrier family 6 (proline IMINO transporter), member 20
Identifiers
Symbols	SLC6A20 ; SIT1; XT3; Xtrp3
External IDs	OMIM: 605616 MGI: 2143217 HomoloGene: 10625 IUPHAR: 944 GeneCards: SLC6A20 Gene
Gene ontology Molecular function • neurotransmitter:sodium symporter activity • protein binding • amino acid transmembrane transporter activity Cellular component • plasma membrane • integral component of plasma membrane • apical plasma membrane Biological process • amino acid transmembrane transport • ion transport • neurotransmitter transport • amino acid transport • glycine transport • proline transport • transmembrane transport Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	54716	102680
Ensembl	ENSG00000163817	ENSMUSG00000036814
UniProt	Q9NP91	Q8VDB9
RefSeq (mRNA)	NM_020208	NM_139142
RefSeq (protein)	NP_064593	NP_631881
Location (UCSC)	Chr 3: 45.76 – 45.8 Mb	Chr 9: 123.64 – 123.68 Mb
PubMed search

Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene.^[1][2]

Function

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na⁺ and Cl⁻ coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants.^[3]

Clinical significance

Mutation in the SLC6A20 gene are associated with iminoglycinuria.^[4]

References

1. Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, Fumagalli F, Seldin MF, Caron MG (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms". Recept. Channels 6 (2): 113–28. PMID 9932288.
2. Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, Imreh S, Dumanski JP (April 2001). "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3". Genomics 73 (1): 10–9. doi:10.1006/geno.2000.6498. PMID 11352561.
3. "Entrez Gene: ADCY10".
4. 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

• Strausberg RL, Feingold EA, Grouse LH, et al. (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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Nash SR, Giros B, Kingsmore SF, et al. (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms.". Recept. Channels 6 (2): 113–28. PMID 9932288.
• Bröer A, Balkrishna S, Kottra G, Davis S, Oakley A, Bröer S (August 2009). "Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20)". Mol. Membr. Biol. 26 (5): 333–46. doi:10.1080/09687680903150027. PMID 19657969.
• Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–86. doi:10.1152/physrev.00018.2006. PMID 18195088.
• Takanaga H, Mackenzie B, Suzuki Y, Hediger MA (2005). "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino.". J. Biol. Chem. 280 (10): 8974–84. doi:10.1074/jbc.M413027200. PMID 15632147.
• Kanei-Ishii C, Nomura T, Tanikawa J, et al. (2004). "Differential sensitivity of v-Myb and c-Myb to Wnt-1-induced protein degradation.". J. Biol. Chem. 279 (43): 44582–9. doi:10.1074/jbc.M407831200. PMID 15308626.
• Kiss H, Kedra D, Kiss C, et al. (2001). "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3.". Genomics 73 (1): 10–9. doi:10.1006/geno.2000.6498. PMID 11352561.