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
385520272024Cryo-EM structures of the human NaS1 and NaDC1 transporters revealed the elevator transport and allosteric regulation mechanism.0
385520272024Cryo-EM structures of the human NaS1 and NaDC1 transporters revealed the elevator transport and allosteric regulation mechanism.0
361753842023Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.2
365664862023Serum sulfate level and Slc13a1 mRNA expression remain unaltered in a mouse model of moderate vitamin D deficiency.0
369432582023Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain.1
361753842023Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.2
365664862023Serum sulfate level and Slc13a1 mRNA expression remain unaltered in a mouse model of moderate vitamin D deficiency.0
369432582023Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain.1
351105242022Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.12
351105242022Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.12
274129882016From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.7
274129882016From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.7
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.71
206701642010Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma.6
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.71

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-(solute-carrier-family-13-member-1)