Identity
HGNC
LOCATION
3q25.31
LOCUSID
ALIAS
ACATN,AT-1,AT1,CCHLND,SPG42
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: 9197
MIM: 603690
HGNC: 95
Ensembl: ENSG00000169359
Variants:
dbSNP: 9197
ClinVar: 9197
TCGA: ENSG00000169359
COSMIC: SLC33A1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33479349 | 2021 | Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway. | 14 |
| 33479349 | 2021 | Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway. | 14 |
| 34414377 | 2020 | Keap1 mutation renders lung adenocarcinomas dependent on Slc33a1. | 25 |
| 34414377 | 2020 | Keap1 mutation renders lung adenocarcinomas dependent on Slc33a1. | 25 |
| 27242167 | 2016 | Increased expression of AT-1/SLC33A1 causes an autistic-like phenotype in mice by affecting dendritic branching and spine formation. | 22 |
| 27242167 | 2016 | Increased expression of AT-1/SLC33A1 causes an autistic-like phenotype in mice by affecting dendritic branching and spine formation. | 22 |
| 25402622 | 2015 | Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family. | 13 |
| 25402622 | 2015 | Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family. | 13 |
| 22243965 | 2012 | Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. | 32 |
| 22787145 | 2012 | SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway. | 47 |
| 22243965 | 2012 | Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. | 32 |
| 22787145 | 2012 | SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway. | 47 |
| 20461110 | 2010 | A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). | 8 |
| 20826464 | 2010 | AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability. | 56 |
| 20461110 | 2010 | A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). | 8 |
Citation
Dessen P
SLC33A1 (solute carrier family 33 member 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73394/slc33a1-(solute-carrier-family-33-member-1)
