Identity
HGNC
LOCATION
2p21
LOCUSID
ALIAS
ATR1,CSNU1,D2H,NBAT,RBAT
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: 6519
MIM: 104614
HGNC: 11025
Ensembl: ENSG00000138079
Variants:
dbSNP: 6519
ClinVar: 6519
TCGA: ENSG00000138079
COSMIC: SLC3A1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37439839 | 2023 | Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability. | 1 |
| 37561200 | 2023 | Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain. | 2 |
| 38114997 | 2023 | Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria. | 0 |
| 37439839 | 2023 | Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability. | 1 |
| 37561200 | 2023 | Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain. | 2 |
| 38114997 | 2023 | Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria. | 0 |
| 33349102 | 2021 | Clinical profile of a Polish cohort of children and young adults with cystinuria. | 2 |
| 33349102 | 2021 | Clinical profile of a Polish cohort of children and young adults with cystinuria. | 2 |
| 32817565 | 2020 | Structural basis for amino acid exchange by a human heteromeric amino acid transporter. | 13 |
| 32817565 | 2020 | Structural basis for amino acid exchange by a human heteromeric amino acid transporter. | 13 |
| 30069816 | 2018 | In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria. | 4 |
| 30146843 | 2018 | Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children. | 4 |
| 30069816 | 2018 | In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria. | 4 |
| 30146843 | 2018 | Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children. | 4 |
| 28166740 | 2017 | Delineation of cystinuria in Saudi Arabia: A case series. | 3 |
Citation
Dessen P
SLC3A1 (solute carrier family 3 member 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56285/slc3a1-(solute-carrier-family-3-member-1)
