SLC13A1 (solute carrier family 13 member 1)

2014-11-01  

Identity

HGNC
LOCATION
7q31.32
LOCUSID
ALIAS
NAS1,NaSi-1

Other Information

Locus ID:

NCBI: 6561
MIM: 606193
HGNC: 10916
Ensembl: ENSG00000081800

Variants:

dbSNP: 6561
ClinVar: 6561
TCGA: ENSG00000081800
COSMIC: SLC13A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081800ENST00000194130Q9BZW2
ENSG00000081800ENST00000194130A4D0X1
ENSG00000081800ENST00000427975F8WEH1
ENSG00000081800ENST00000439260F8WEM4
ENSG00000081800ENST00000539873F5GYP1

Expression (GTEx)

0
1
2
3
4
5
6
7

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Sodium-coupled sulphate, di- and tri-carboxylate transportersREACTOMER-HSA-433137

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194016822010High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.52
128577322003Serines 260 and 288 are involved in sulfate transport by hNaSi-1.6
128673582003Mutagenesis of the N-glycosylation site of hNaSi-1 reduces transport activity.4
206701642010Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma.3
274129882016From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.3

Citation

Dessen P

SLC13A1 (solute carrier family 13 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73277/slc13a1