Property Summary

NCBI Gene PubMed Count 39
PubMed Score 800.26
PubTator Score 3906.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Protein-protein Interaction (1)

Gene RIF (18)

PMID Text
22778404 These data demonstrate that sialin mediates nitrate influx into salivary gland and other cell types.
22632162 FITC-labeled Tat 47-59 peptide upregulates gene expression of solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5) in U-937 macrophages
22334707 the substrate-binding site of sialin (SLC17A5)
21781115 Human SLC17A5 carrying mutations that causes both phenotypes of Salla disease and mutations that cause infantile sialic acid storage disease showed no transport activity
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20424173 analysis of crucial residues and substrate-induced conformational changes in SLC17 transporter sialin
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19557856 Mutations in the SLC17A5 gene must be considered in two siblings with hypomyelination, even in the absence of sialuria.
18695252 sialin possesses dual physiological functions and acts as a vesicular aspartate/glutamate transporter
18399798 The lysosomal localization of human sialin was not or only partially affected by pathogenic missense mutations; in contrast, all pathogenic mutations abolished transport of sialic acid.
17933575 study assessed the effect of missense mutations in the sialin gene (G328E and G409E) and found complete loss of measurable transport activity with both and impaired trafficking of the G409E protein
16170568 a SLC17A5 p.K136E mutation may have a role in a case of Italian severe Salla disease
15516337 there is a direct correlation between sialin function and the disease state of sialic acid storage disorders
15510212 Two missense mutations and one small, in-frame deletion in sialin are associated with ISSD abolished transport, the mutation causing Salla disease (R39C) slowed down, but did not stop the transport cycle.
15172005 Molecular studies showed that all four affected individuals were homozygous for the same novel 983G > A mutation in exon 8 of the SLC17A5 gene, replacing glycine with glutamic acid at position 328 of the sialin protein
15006695 In primary neuronal cultures sialin was not targeted into lysosomes but rather revealed a punctate staining along the neuronal processes and was also seen in the plasma membrane.
12359136 expression, localization, and targeting of the wild-type sialin, as well as two mutant polypeptides in sialic acid storage disorders

AA Sequence

MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDS      1 - 70
NTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLG     71 - 140
FGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGT    141 - 210
VISLPLSGIICYYMNWTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSV    211 - 280
PWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAAD    281 - 350
NLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPS    351 - 420
YAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDH    421 - 490
HGHRH                                                                     491 - 495
//

Text Mined References (39)

PMID Year Title
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22778404 2012 Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane.
22334707 2012 Successful prediction of substrate-binding pocket in SLC17 transporter sialin.
21781115 2011 Functional characterization of vesicular excitatory amino acid transport by human sialin.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20424173 2010 Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19557856 2009 Free sialic acid storage disease without sialuria.
18695252 2008 Identification of a vesicular aspartate transporter.
18399798 2008 Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.
17933575 2007 G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking.
17897319 2007 Integral and associated lysosomal membrane proteins.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
16170568 2005 Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
15516337 2005 Varied mechanisms underlie the free sialic acid storage disorders.
15510212 2004 Functional characterization of wild-type and mutant human sialin.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15172005 2004 A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.
15006695 2004 Sialin expression in the CNS implicates extralysosomal function in neurons.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12794687 2003 Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12359136 Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.
12121352 2002 An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
11751519 2001 Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis.
11588980 2001 Lysosomal membrane proteins.
10947946 2000 The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
10581036 1999 A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
10069709 1999 Clinical spectrum of infantile free sialic acid storage disease.
8198127 1994 The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
7573152 1995 Infantile sialic acid storage disease: biochemical studies.
7557994 1995 Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.
7151835 1982 Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.
3961501 1986 Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.
2334213 1990 Sialic acid storage disease.
2010546 1991 Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.