SLC17A5

Protein name: sialin Aliases: AST, VEAT Substrates: sialic acid, other acidic sugars Transport type: Cotransporter / H+ Tissue and cellular expression: ubiquitous Subcellular expression: lysosome Disease: sialic acid storage disease (Salla disease) Locus: 6q13 Sequence ID: NP_036566.1, NM_012434.4 Gene ID: 26503 Splice variants: N/D

S17A5_HUMAN (UniProt)

Gene names: SLC17A5
Protein names and data: S17A5_HUMAN, Full=Sialin, Full=Membrane glycoprotein HP59;Full=Sodium/sialic acid cotransporter;Short=AST;Full=Solute carrier family 17 member 5; Length: 495 a.a., Mass: 54640 Da,
fasta formatted sequence

Function: Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable)
Disease:
Cellular location: Lysosome membrane; Multi-pass membrane protein
Tissue specificity: Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endothelial cells from the corresponding normal tissues

Database cross-references

UniProt: Q9NRA2
NextBio: 48778
OMIM: 269920 604322 604369
Ensembl: ENST00000355773
GeneCard: GC06M073593
TCDB: 2.A.1.14.10
PharmGenUCSF: SLC17A5
Guide to Pharmacology: SLC17A5 (1006)
Sialic acid transporter (1006)

HGNC: HGNC:10933

Genetic variants

See also Ensembl:ENST00000355773