SLC6A20

Last updated
SLC6A20
Identifiers
Aliases SLC6A20 , SIT1, XT3, Xtrp3, solute carrier family 6 member 20, IMINO
External IDs OMIM: 605616 MGI: 2143217 HomoloGene: 10625 GeneCards: SLC6A20
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
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]

Contents

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]

Related Research Articles

<span class="mw-page-title-main">PFN2</span> Protein-coding gene in the species Homo sapiens

Profilin-2 is a protein that in humans is encoded by the PFN2 gene.

<span class="mw-page-title-main">Sodium- and chloride-dependent creatine transporter 1</span> Protein-coding gene in the species Homo sapiens

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.

<span class="mw-page-title-main">Urea transporter 1</span> Protein-coding gene in the species Homo sapiens

Urea transporter 1 is a protein that in humans is encoded by the SLC14A1 gene.

<span class="mw-page-title-main">Proton-coupled amino acid transporter 1</span> Protein-coding gene in the species Homo sapiens

Proton-coupled amino acid transporter 1 is a protein that in humans is encoded by the SLC36A1 gene.

<span class="mw-page-title-main">Sodium-coupled neutral amino acid transporter 3</span> Protein-coding gene in the species Homo sapiens

Sodium-coupled neutral amino acid transporter 3 is a protein that in humans is encoded by the SLC38A3 gene.

<span class="mw-page-title-main">TOM1</span>

Target of Myb protein 1 is a protein that in humans is encoded by the TOM1 gene.

<span class="mw-page-title-main">LARS2</span> Protein-coding gene in the species Homo sapiens

Probable leucyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the LARS2 gene.

<span class="mw-page-title-main">Large neutral amino acids transporter small subunit 2</span> Protein-coding gene in the species Homo sapiens

Large neutral amino acids transporter small subunit 2 is a protein that in humans is encoded by the SLC7A8 gene.

<span class="mw-page-title-main">SACM1L</span> Protein-coding gene in the species Homo sapiens

Phosphatidylinositide phosphatase SAC1 is an enzyme that in humans is encoded by the SACM1L gene.

<span class="mw-page-title-main">TOM1L1</span> Protein-coding gene in the species Homo sapiens

TOM1-like protein 1 is a protein that in humans is encoded by the TOM1L1 gene.

<span class="mw-page-title-main">Anion exchange transporter</span> Protein-coding gene in the species Homo sapiens

Anion exchange transporter is a protein that in humans is encoded by the SLC26A7 gene.

<span class="mw-page-title-main">LIMD1</span> Protein-coding gene in the species Homo sapiens

LIM domain-containing protein 1 is a protein that in humans is encoded by the LIMD1 gene.

<span class="mw-page-title-main">ABCD4</span> Protein-coding gene in the species Homo sapiens

ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.

<span class="mw-page-title-main">CWC15</span> Protein-coding gene in the species Homo sapiens

Protein CWC15 homolog is a protein that in humans is encoded by the CWC15 gene.

<span class="mw-page-title-main">CACNA2D2</span> Protein-coding gene in the species Homo sapiens

Voltage-dependent calcium channel subunit alpha2delta-2 is a protein that in humans is encoded by the CACNA2D2 gene.

<span class="mw-page-title-main">Iminoglycinuria</span> Medical condition

Iminoglycinuria is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline. This results in excess urinary excretion of all three acids.

<span class="mw-page-title-main">SLC6A18</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the SLC6A18 gene.

<span class="mw-page-title-main">Proton-coupled amino acid transporter 2</span> Protein-coding gene in the species Homo sapiens

Proton-coupled amino acid transporter 2 is a protein which in humans is encoded by the SLC36A2 gene.

<span class="mw-page-title-main">Sodium-dependent neutral amino acid transporter B(0)AT2</span> Protein-coding gene in the species Homo sapiens

Sodium-dependent neutral amino acid transporter B(0)AT2 is a protein that in humans is encoded by the SLC6A15 gene.

<span class="mw-page-title-main">LZTFL1</span> Protein-coding gene in the species Homo sapiens

Leucine zipper transcription factor like 1 also known as LZTFL1 is a ubiquitously expressed protein which localizes to the cytoplasm and in humans is encoded by the LZTFL1 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163817 - Ensembl, May 2017
  2. 1 2 3 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