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; OMA:SLC6A20 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	45,796,536 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	123,507,950 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; Epithelium of choroid plexus; ; duodenum; ; jejunal mucosa; ; gallbladder; ; mucosa of ileum; ; gonad; ; palpebral conjunctiva; ; pancreatic epithelial cell; ; tibial nerve;
	Top expressed in
	retinal pigment epithelium; ; optic nerve; ; Epithelium of choroid plexus; ; epithelium of small intestine; ; duodenum; ; jejunum; ; median eminence; ; intestinal villus; ; mammillary body; ; ileum;
	More reference expression data
	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
	54716
	102680
	ENSG00000163817
	ENSMUSG00000036814
	Q9NP91
	Q8VDB9
	NM_020208; NM_022405; NM_001385683
	NM_139142
	NP_064593; NP_071800
	NP_631881
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163817 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036814 – 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.
^ 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.
^ 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.
^ "Entrez Gene: ADCY10".
^ 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.
^ 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.

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.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163817 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9932288-5] 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.

[pmid11352561-6] 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.

[entrez-7] "Entrez Gene: ADCY10".

[pmid19033659-8] 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.

[1]

Function

Clinical significance

References

Further reading