SLCtables

SLC13A1

Protein name: NaS1 Aliases: Na-sulfate, NaSi-1 Substrates: sulfate, selenate, thiosulfate Transport type: Cotransporter / Na+ Tissue and cellular expression: kidney, proximal tubular cells Subcellular expression: brush border membrane Disease: growth retardation, reduced fertility, seizures, (KO mice) Locus: 7q31.32 Sequence ID: NP_071889.2, NM_022444.3 Gene ID: 6561 Splice variants: 2.2kb and 2.7kb transcripts (both functional, with a 3' UTR 0.5kb longer variant)

S13A1_HUMAN (UniProt)

Gene names: SLC13A1, NAS1, NASI1
Protein names and data: S13A1_HUMAN, Full=Solute carrier family 13 member 1, Full=Renal sodium/sulfate cotransporter;Short=Na(+)/sulfate cotransporter;Short=hNaSi-1; Length: 595 a.a., Mass: 66134 Da,
fasta formatted sequence
Function: Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Highly expressed in kidney; not detectable in the other tissues tested

Database cross-references

UniProt: Q9BZW2
NextBio: 25531
OMIM: 606193
Ensembl: ENST00000194130
GeneCard: GC07M123113
PharmGenUCSF: SLC13A1
Guide to Pharmacology: SLC13A1 (977)
SLC13 family of sodium-dependent sulphate/carboxylate transporters (977)
HGNC: HGNC:10916

Genetic variants

See also Ensembl:ENST00000194130

42 - 42 F -> L (in dbSNP:rs28364181). VAR_029247 28364181
44 - 44 V -> I (in dbSNP:rs28364177). VAR_029248 28364177
157 - 157 Q -> E (in dbSNP:rs28364196). VAR_029249 28364196
174 - 174 N -> S (in dbSNP:rs2140516). VAR_022018 2140516
205 - 205 Y -> C (in dbSNP:rs28364231). VAR_029250 28364231
240 - 240 T -> M (in dbSNP:rs10231144). VAR_059804 10231144
277 - 277 R -> H (in dbSNP:rs28364200). VAR_029251 28364200
332 - 332 V -> A (in dbSNP:rs28364201). VAR_029252 28364201
392 - 392 I -> T (in dbSNP:rs28364210). VAR_029253 28364210