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:
(OMIM:
269920 604322 604369)
Defects in SLC17A5 are the cause of Salla disease (SD) [MIM:604369]; also known as Finnish type sialuria. SD is a sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N- acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow; Defects in SLC17A5 are the cause of infantile sialic acid storage disorder (ISSD) [MIM:269920]; also known as N- acetylneuraminic acid storage disease (NSD). ISSD is a severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years; Note=Infantile sialic acid storage disorder is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end- stage of a wide variety of disorders
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
39 - 39
R -> C (in SD; frequent mutation in Finland). VAR_018684
136 - 136
K -> E (in SD). VAR_018685
183 - 183
H -> R (in ISSD). VAR_018686
268 - 272
Missing (in ISSD). VAR_018687
296 - 296
V -> I (in dbSNP:rs16883930). VAR_034746
16883930
334 - 334
P -> R (in ISSD). VAR_018688
371 - 371
G -> V (in ISSD). VAR_018689