ID:S17A5_HUMAN DESCRIPTION: RecName: Full=Sialin; AltName: Full=Membrane glycoprotein HP59; AltName: Full=Sodium/sialic acid cotransporter; Short=AST; AltName: Full=Solute carrier family 17 member 5; FUNCTION: Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable). SUBCELLULAR 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. DISEASE: 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. DISEASE: 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. DISEASE: 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. SIMILARITY: Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. SEQUENCE CAUTION: Sequence=AAF97769.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC17A5";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF07690 - Major Facilitator Superfamily
SCOP Domains: 103473 - MFS general substrate transporter
ModBase Predicted Comparative 3D Structure on Q9NRA2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK026921 - Homo sapiens cDNA: FLJ23268 fis, clone COL08932, highly similar to HSA387747 Homo sapiens mRNA for sialin. BC020961 - Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5, mRNA (cDNA clone MGC:8885 IMAGE:3847279), complete cds. LF384577 - JP 2014500723-A/192080: Polycomb-Associated Non-Coding RNAs. AK025880 - Homo sapiens cDNA: FLJ22227 fis, clone HRC01782, highly similar to HSA387747 Homo sapiens mRNA for sialin. AF244577 - Homo sapiens membrane glycoprotein HP59 (HP59) mRNA, complete cds. AK075320 - Homo sapiens cDNA FLJ90839 fis, clone Y79AA1002213, highly similar to Solute carrier family 17 (anion/sugar transporter), member 5. AJ387747 - Homo sapiens mRNA for sialin. AK315789 - Homo sapiens cDNA, FLJ96906, highly similar to Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA. DQ891462 - Synthetic construct clone IMAGE:100004092; FLH177146.01X; RZPDo839D07124D solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5) gene, encodes complete protein. EU176585 - Synthetic construct Homo sapiens clone IMAGE:100011400; FLH177145.01L; RZPDo839E03254D solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5) gene, encodes complete protein. AK294068 - Homo sapiens cDNA FLJ57875 complete cds, highly similar to Sialin. MA620154 - JP 2018138019-A/192080: Polycomb-Associated Non-Coding RNAs. JD219217 - Sequence 200241 from Patent EP1572962. JD412611 - Sequence 393635 from Patent EP1572962. JD131384 - Sequence 112408 from Patent EP1572962. JD342509 - Sequence 323533 from Patent EP1572962. JD064516 - Sequence 45540 from Patent EP1572962. JD037835 - Sequence 18859 from Patent EP1572962. JD366562 - Sequence 347586 from Patent EP1572962. JD155904 - Sequence 136928 from Patent EP1572962. JD117280 - Sequence 98304 from Patent EP1572962. JD517737 - Sequence 498761 from Patent EP1572962. JD149424 - Sequence 130448 from Patent EP1572962. JD405225 - Sequence 386249 from Patent EP1572962. JD238045 - Sequence 219069 from Patent EP1572962. JD135691 - Sequence 116715 from Patent EP1572962. JD135690 - Sequence 116714 from Patent EP1572962. JD217448 - Sequence 198472 from Patent EP1572962. JD408506 - Sequence 389530 from Patent EP1572962. JD173614 - Sequence 154638 from Patent EP1572962. JD144511 - Sequence 125535 from Patent EP1572962. JD275932 - Sequence 256956 from Patent EP1572962. JD275933 - Sequence 256957 from Patent EP1572962. JD159134 - Sequence 140158 from Patent EP1572962. JD275931 - Sequence 256955 from Patent EP1572962. JD159133 - Sequence 140157 from Patent EP1572962. JD079906 - Sequence 60930 from Patent EP1572962. JD105748 - Sequence 86772 from Patent EP1572962. JD372699 - Sequence 353723 from Patent EP1572962. JD145579 - Sequence 126603 from Patent EP1572962. JD266050 - Sequence 247074 from Patent EP1572962. JD138015 - Sequence 119039 from Patent EP1572962. JD258643 - Sequence 239667 from Patent EP1572962. JD558330 - Sequence 539354 from Patent EP1572962. JD138016 - Sequence 119040 from Patent EP1572962. JD522360 - Sequence 503384 from Patent EP1572962. JD564407 - Sequence 545431 from Patent EP1572962. JD556427 - Sequence 537451 from Patent EP1572962. JD138017 - Sequence 119041 from Patent EP1572962. JD522361 - Sequence 503385 from Patent EP1572962. JD358170 - Sequence 339194 from Patent EP1572962. JD556428 - Sequence 537452 from Patent EP1572962. JD500537 - Sequence 481561 from Patent EP1572962. JD071048 - Sequence 52072 from Patent EP1572962. JD319535 - Sequence 300559 from Patent EP1572962. JD344178 - Sequence 325202 from Patent EP1572962. JD333821 - Sequence 314845 from Patent EP1572962. LF377823 - JP 2014500723-A/185326: Polycomb-Associated Non-Coding RNAs. JD428596 - Sequence 409620 from Patent EP1572962. MA613400 - JP 2018138019-A/185326: Polycomb-Associated Non-Coding RNAs. LF377825 - JP 2014500723-A/185328: Polycomb-Associated Non-Coding RNAs. JD419309 - Sequence 400333 from Patent EP1572962. JD227861 - Sequence 208885 from Patent EP1572962. MA613402 - JP 2018138019-A/185328: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9NRA2 (Reactome details) participates in the following event(s):
R-HSA-428585 SLC17A5 cotransports Neu5Ac, H+ from lysosomal lumen to cytosol R-HSA-428643 Organic anion transporters R-HSA-4085001 Sialic acid metabolism R-HSA-425374 Amino acid and oligopeptide SLC transporters R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-446219 Synthesis of substrates in N-glycan biosythesis R-HSA-425407 SLC-mediated transmembrane transport R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-382551 Transport of small molecules R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
