Identity
HGNC
LOCATION
6q15
LOCUSID
ALIAS
CDG2F,CMPST,CST,hCST
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: 10559
MIM: 605634
HGNC: 11021
Ensembl: ENSG00000164414
Variants:
dbSNP: 10559
ClinVar: 10559
TCGA: ENSG00000164414
COSMIC: SLC35A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164414 | ENST00000369552 | P78382 |
| ENSG00000164414 | ENST00000369556 | P78382 |
| ENSG00000164414 | ENST00000369557 | Q5W1L7 |
| ENSG00000164414 | ENST00000622775 | A0A087WVM1 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32303557 | 2021 | Slc35a1 deficiency causes thrombocytopenia due to impaired megakaryocytopoiesis and excessive platelet clearance in the liver. | 17 |
| 34015330 | 2021 | The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi. | 6 |
| 34069698 | 2021 | Knockout of the CMP-Sialic Acid Transporter SLC35A1 in Human Cell Lines Increases Transduction Efficiency of Adeno-Associated Virus 9: Implications for Gene Therapy Potency Assays. | 3 |
| 34384782 | 2021 | A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2. | 2 |
| 32303557 | 2021 | Slc35a1 deficiency causes thrombocytopenia due to impaired megakaryocytopoiesis and excessive platelet clearance in the liver. | 17 |
| 34015330 | 2021 | The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi. | 6 |
| 34069698 | 2021 | Knockout of the CMP-Sialic Acid Transporter SLC35A1 in Human Cell Lines Increases Transduction Efficiency of Adeno-Associated Virus 9: Implications for Gene Therapy Potency Assays. | 3 |
| 34384782 | 2021 | A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2. | 2 |
| 33396746 | 2020 | Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter. | 4 |
| 33396746 | 2020 | Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter. | 4 |
| 30115659 | 2018 | A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation. | 25 |
| 30115659 | 2018 | A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation. | 25 |
| 28856833 | 2017 | Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. | 15 |
| 28856833 | 2017 | Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. | 15 |
| 27387429 | 2016 | A functional splice variant of the human Golgi CMP-sialic acid transporter. | 2 |
Citation
Dessen P
SLC35A1 (solute carrier family 35 member A1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73397/slc35a1-(solute-carrier-family-35-member-a1)
