SLC6A20

SLC6A20
Identifiers
Aliases	SLC6A20 , SIT1, XT3, Xtrp3, solute carrier family 6 member 20, IMINO
External IDs	OMIM: 605616 MGI: 2143217 HomoloGene: 10625 GeneCards: SLC6A20
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3p21.31 Start 45,755,449 bp [1] End 45,796,536 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9 F4|9 74.26 cM Start 123,463,835 bp [2] End 123,507,950 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium duodenum jejunal mucosa gallbladder palpebral conjunctiva pancreatic epithelial cell tibial nerve secondary oocyte islet of Langerhans pancreatic ductal cell Top expressed in retinal pigment epithelium optic nerve duodenum jejunum median eminence intestinal villus mammillary body ileum secondary oocyte pontine nuclei More reference expression data BioGPS n/a
Gene ontology Molecular function neurotransmitter:sodium symporter activity protein binding symporter activity amino acid transmembrane transporter activity L-proline transmembrane transporter activity Cellular component integral component of membrane plasma membrane integral component of plasma membrane apical plasma membrane membrane brush border membrane Biological process neurotransmitter transport amino acid transport glycine transport proline transport amino acid transmembrane transport transmembrane transport proline transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54716 102680 Ensembl ENSG00000163817 ENSMUSG00000036814 UniProt Q9NP91 Q8VDB9 RefSeq (mRNA) NM_020208 NM_022405 NM_001385683 NM_139142 RefSeq (protein) NP_064593 NP_071800 NP_631881 Location (UCSC) Chr 3: 45.76 – 45.8 Mb Chr 9: 123.46 – 123.51 Mb PubMed search [3] [4]
Wikidata
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Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene. ^{[5] [6]}

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. ^[7]

Clinical significance

Mutation in the SLC6A20 gene are associated with iminoglycinuria. ^[8]

One of a cluster of 6 genes (SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 and XCR1) on chromosome 3 at location 3p21.31 associated with a genetic susceptibility to COVID-19 respiratory failure. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000163817 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036814 - 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. Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, et al. (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms". Receptors & Channels. 6 (2): 113–28. PMID   9932288.
6. Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, et al. (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.
7. "Entrez Gene: ADCY10".
8. Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, et al. (December 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". The Journal of Clinical Investigation. 118 (12): 3881–92. doi:10.1172/JCI36625. PMC   2579706 . PMID   19033659.
9. Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, et al. (June 2020). "Genomewide Association Study of Severe Covid-19 with Respiratory Failure". The New England Journal of Medicine. 383 (16): 1522–1534. doi:10.1056/NEJMoa2020283. PMC   7315890 . PMID   32558485.

Further reading

• Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, et al. (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms". Receptors & 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)". Molecular Membrane Biology. 26 (5): 333–46. doi: 10.1080/09687680903150027 . PMID   19657969. S2CID   21001936.
• Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiological Reviews. 88 (1): 249–86. doi:10.1152/physrev.00018.2006. PMID   18195088.
• Takanaga H, Mackenzie B, Suzuki Y, Hediger MA (March 2005). "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino". The Journal of Biological Chemistry. 280 (10): 8974–84. doi: 10.1074/jbc.M413027200 . PMID   15632147.
• Kanei-Ishii C, Nomura T, Tanikawa J, Ichikawa-Iwata E, Ishii S (October 2004). "Differential sensitivity of v-Myb and c-Myb to Wnt-1-induced protein degradation". The Journal of Biological Chemistry. 279 (43): 44582–9. doi: 10.1074/jbc.M407831200 . PMID   15308626.
• Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, et al. (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.