SLC6A20
| SLC6A20 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 3: 45.76 – 45.8 Mb | Chr 9: 123.46 – 123.51 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| 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.
- PMID 9932288.
- PMID 11352561.
- ^ "Entrez Gene: ADCY10".
- PMID 19033659.
- 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. S2CID 21001936.
- Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiological Reviews. 88 (1): 249–86. 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. 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. 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. PMID 11352561.
 | This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it. |