Identity
HGNC
LOCATION
5p15.33
LOCUSID
ALIAS
B0AT1,HND
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 340024
MIM: 608893
HGNC: 27960
Ensembl: ENSG00000174358
Variants:
dbSNP: 340024
ClinVar: 340024
TCGA: ENSG00000174358
COSMIC: SLC6A19
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000174358 | ENST00000304460 | Q695T7 |
| ENSG00000174358 | ENST00000515652 | E9PD72 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32132184 | 2020 | Structural basis for the recognition of SARS-CoV-2 by full-length human ACE2. | 2943 |
| 33064147 | 2020 | Unraveling the Role of ACE2, the Binding Receptor for SARS-CoV-2, in Inflammatory Bowel Disease. | 11 |
| 32132184 | 2020 | Structural basis for the recognition of SARS-CoV-2 by full-length human ACE2. | 2943 |
| 33064147 | 2020 | Unraveling the Role of ACE2, the Binding Receptor for SARS-CoV-2, in Inflammatory Bowel Disease. | 11 |
| 31176687 | 2019 | A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function. | 30 |
| 31176687 | 2019 | A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function. | 30 |
| 25534429 | 2015 | Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors. | 196 |
| 25534429 | 2015 | Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors. | 196 |
| 23234856 | 2012 | Up-regulation of amino acid transporter SLC6A19 activity and surface protein abundance by PKB/Akt and PIKfyve. | 12 |
| 23234856 | 2012 | Up-regulation of amino acid transporter SLC6A19 activity and surface protein abundance by PKB/Akt and PIKfyve. | 12 |
| 21964291 | 2011 | Stimulation of the amino acid transporter SLC6A19 by JAK2. | 3 |
| 21964291 | 2011 | Stimulation of the amino acid transporter SLC6A19 by JAK2. | 3 |
| 20399395 | 2010 | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. | 8 |
| 20883558 | 2010 | Loss of solute carriers in T cell-mediated rejection in mouse and human kidneys: an active epithelial injury-repair response. | 13 |
| 20399395 | 2010 | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. | 8 |
Citation
Dessen P
SLC6A19 (solute carrier family 6 member 19)
Atlas Genet Cytogenet Oncol Haematol. 2013-06-01
Online version: http://atlasgeneticsoncology.org/gene/53392/slc6a19-(solute-carrier-family-6-member-19)
