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Aliases for SLC17A5 Gene

Aliases for SLC17A5 Gene

  • Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 2 3
  • Solute Carrier Family 17 (Anion/Sugar Transporter), Member 5 2 3
  • Vesicular H(+)/Aspartate-Glutamate Cotransporter 3 4
  • H(+)/Sialic Acid Cotransporter 3 4
  • Sialic Acid Storage Disease 2 3
  • Membrane Glycoprotein HP59 3 4
  • H(+)/Nitrate Cotransporter 3 4
  • SIASD 3 6
  • SLD 3 6
  • AST 3 4
  • Solute Carrier Family 17 Member 5 4
  • Sodium/Sialic Acid Cotransporter 3
  • SIALIN 3
  • ISSD 3
  • NSD 3
  • SD 3

External Ids for SLC17A5 Gene

Previous HGNC Symbols for SLC17A5 Gene

  • SIASD

Previous GeneCards Identifiers for SLC17A5 Gene

  • GC06M074261
  • GC06M074298
  • GC06M074359
  • GC06M071502
  • GC06M074303

Summaries for SLC17A5 Gene

Entrez Gene Summary for SLC17A5 Gene

  • This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC17A5 Gene

SLC17A5 (Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5) is a Protein Coding gene. Diseases associated with SLC17A5 include salla disease and sialic acid storage disorder, infantile. Among its related pathways are Lysosome and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include sugar:proton symporter activity and sialic acid transmembrane transporter activity. An important paralog of this gene is SLC17A8.

UniProtKB/Swiss-Prot for SLC17A5 Gene

  • Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.

Gene Wiki entry for SLC17A5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC17A5 Gene

Genomics for SLC17A5 Gene

Regulatory Elements for SLC17A5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC17A5 Gene

Start:
73,593,379 bp from pter
End:
73,654,155 bp from pter
Size:
60,777 bases
Orientation:
Minus strand

Genomic View for SLC17A5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC17A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC17A5 Gene

Proteins for SLC17A5 Gene

  • Protein details for SLC17A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRA2-S17A5_HUMAN
    Recommended name:
    Sialin
    Protein Accession:
    Q9NRA2
    Secondary Accessions:
    • Q5SZ76
    • Q8NBR5
    • Q9UGH0

    Protein attributes for SLC17A5 Gene

    Size:
    495 amino acids
    Molecular mass:
    54640 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF97769.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC17A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC17A5 Gene

Proteomics data for SLC17A5 Gene at MOPED

Post-translational modifications for SLC17A5 Gene

  • Ubiquitination at Lys263 and Lys278
  • Glycosylation at Asn71, Asn77, and Asn95
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC17A5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC17A5 Gene

Domains for SLC17A5 Gene

Gene Families for SLC17A5 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC17A5 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NRA2

UniProtKB/Swiss-Prot:

S17A5_HUMAN :
  • Q9NRA2
Family:
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
genes like me logo Genes that share domains with SLC17A5: view

Function for SLC17A5 Gene

Molecular function for SLC17A5 Gene

GENATLAS Biochemistry:
solute carrier family 17 member 5,anion/cation symporters
UniProtKB/Swiss-Prot Function:
Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.

Gene Ontology (GO) - Molecular Function for SLC17A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005351 sugar:proton symporter activity TAS 10581036
GO:0015136 sialic acid transmembrane transporter activity IDA 10581036
genes like me logo Genes that share ontologies with SLC17A5: view
genes like me logo Genes that share phenotypes with SLC17A5: view

Animal Model Products

CRISPR Products

miRNA for SLC17A5 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC17A5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC17A5 Gene

Localization for SLC17A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC17A5 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC17A5 Gene COMPARTMENTS Subcellular localization image for SLC17A5 gene
Compartment Confidence
lysosome 5
plasma membrane 5
vacuole 5
nucleus 2
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC17A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005764 lysosome --
GO:0005765 lysosomal membrane TAS --
GO:0005886 plasma membrane IDA --
GO:0005887 integral component of plasma membrane TAS 10581036
genes like me logo Genes that share ontologies with SLC17A5: view

Pathways for SLC17A5 Gene

genes like me logo Genes that share pathways with SLC17A5: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for SLC17A5 Gene

Gene Ontology (GO) - Biological Process for SLC17A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006811 ion transport TAS --
GO:0006820 anion transport TAS 10581036
GO:0006865 amino acid transport IEA --
GO:0015739 sialic acid transport IDA 10581036
genes like me logo Genes that share ontologies with SLC17A5: view

Compounds for SLC17A5 Gene

(1) HMDB Compounds for SLC17A5 Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5

(152) Novoseek inferred chemical compound relationships for SLC17A5 Gene

Compound -log(P) Hits PubMed IDs
aspartate 96.4 116
alanine 93.4 102
creatinine 76.9 126
nash 75.7 23
lactate 70.2 104
genes like me logo Genes that share compounds with SLC17A5: view

Transcripts for SLC17A5 Gene

Unigene Clusters for SLC17A5 Gene

Solute carrier family 17 (anion/sugar transporter), member 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC17A5

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC17A5 Gene

No ASD Table

Relevant External Links for SLC17A5 Gene

GeneLoc Exon Structure for
SLC17A5
ECgene alternative splicing isoforms for
SLC17A5

Expression for SLC17A5 Gene

mRNA expression in normal human tissues for SLC17A5 Gene

Protein differential expression in normal tissues for SLC17A5 Gene

This gene is overexpressed in Nasal epithelium (62.8).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC17A5 Gene

SOURCE GeneReport for Unigene cluster for SLC17A5 Gene Hs.597422

mRNA Expression by UniProt/SwissProt for SLC17A5 Gene

Q9NRA2-S17A5_HUMAN
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.
genes like me logo Genes that share expressions with SLC17A5: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Expression partners for SLC17A5 Gene

Orthologs for SLC17A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC17A5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC17A5 35
  • 88.22 (n)
  • 86.67 (a)
SLC17A5 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC17A5 35
  • 90.37 (n)
  • 89.29 (a)
SLC17A5 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc17a5 35
  • 83.77 (n)
  • 86.26 (a)
Slc17a5 16
Slc17a5 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC17A5 35
  • 99.6 (n)
  • 99.6 (a)
SLC17A5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc17a5 35
  • 82.89 (n)
  • 86.82 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC17A5 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC17A5 35
  • 75.57 (n)
  • 79.3 (a)
SLC17A5 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC17A5 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc17a5 35
  • 70.2 (n)
  • 72.35 (a)
Str.9993 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16355 35
zebrafish
(Danio rerio)
Actinopterygii slc17a5 35
  • 63.9 (n)
  • 65.35 (a)
slc17a5 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK02623 37
  • 27 (a)
BG:DS07660.1 37
  • 37 (a)
CG15094 37
  • 36 (a)
CG15096 37
  • 34 (a)
CG2003 37
  • 27 (a)
CG30265 37
  • 28 (a)
CG30272 37
  • 28 (a)
CG3036 37
  • 36 (a)
CG3649 37
  • 27 (a)
CG4288 37
  • 42 (a)
CG4330 37
  • 40 (a)
CG4726 37
  • 36 (a)
CG6978 37
  • 37 (a)
CG7881 37
  • 29 (a)
CG8791 37
  • 34 (a)
CG9825 37
  • 31 (a)
CG9826 37
  • 31 (a)
CG9864 37
  • 36 (a)
l(2)08717 37
  • 36 (a)
NaPi-T 37
  • 31 (a)
Picot 37
  • 41 (a)
MFS10 35
  • 49.54 (n)
  • 43.34 (a)
worm
(Caenorhabditis elegans)
Secernentea C02C2.4 37
  • 25 (a)
C38C10.2 37
  • 40 (a)
F12B6.2a 37
  • 25 (a)
F12B6.2b 37
  • 25 (a)
F12B6.2c 37
  • 25 (a)
F21F8.11 37
  • 23 (a)
F25G6.7 37
  • 31 (a)
F44E7.7 37
  • 26 (a)
F45E4.11 37
  • 25 (a)
K10H10.1 37
  • 25 (a)
R10D12.1 37
  • 25 (a)
T09B9.2 37
  • 25 (a)
T19D12.9 37
  • 27 (a)
T27D12.1 37
  • 27 (a)
ZK54.1 37
  • 42 (a)
ZK682.2 37
  • 25 (a)
C38C10.2 35
  • 50.55 (n)
  • 41.58 (a)
Species with no ortholog for SLC17A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC17A5 Gene

ENSEMBL:
Gene Tree for SLC17A5 (if available)
TreeFam:
Gene Tree for SLC17A5 (if available)

Paralogs for SLC17A5 Gene

Paralogs for SLC17A5 Gene

Selected SIMAP similar genes for SLC17A5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC17A5: view

Variants for SLC17A5 Gene

Sequence variations from dbSNP and Humsavar for SLC17A5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs364734 -- 73,599,678(+) AACAG(G/T)TACCG intron-variant
rs382038 -- 73,597,967(-) TTTCA(C/T)TAAAA intron-variant
rs382041 -- 73,597,962(-) TTAAA(A/C)TGCAC intron-variant
rs395996 -- 73,600,089(+) GCACC(C/T)GGCCA intron-variant
rs428944 -- 73,598,613(+) gggac(A/G)agtga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC17A5 Gene

Variant ID Type Subtype PubMed ID
nsv886158 CNV Gain 21882294
nsv527357 CNV Gain 19592680
nsv886160 CNV Gain 21882294
esv1085598 CNV Deletion 17803354
esv23040 CNV Loss 19812545
esv2662522 CNV Deletion 23128226
esv1724578 CNV Insertion 17803354
esv2647946 CNV Deletion 19546169

Relevant External Links for SLC17A5 Gene

HapMap Linkage Disequilibrium report
SLC17A5
Human Gene Mutation Database (HGMD)
SLC17A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC17A5 Gene

Disorders for SLC17A5 Gene

(2) OMIM Diseases for SLC17A5 Gene (604322)

UniProtKB/Swiss-Prot

S17A5_HUMAN
  • Salla disease (SD) [MIM:604369]: 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. {ECO:0000269 PubMed:10581036, ECO:0000269 PubMed:10947946, ECO:0000269 PubMed:12794687, ECO:0000269 PubMed:21781115}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Infantile sialic acid storage disorder (ISSD) [MIM:269920]: 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. {ECO:0000269 PubMed:10581036, ECO:0000269 PubMed:10947946}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(2) University of Copenhagen DISEASES for SLC17A5 Gene

(96) Novoseek inferred disease relationships for SLC17A5 Gene

Disease -log(P) Hits PubMed IDs
liver diseases 82.9 64
fatty liver 82 41
liver damage 81.4 30
liver dysfunction 78.5 17
sialic acid storage disease 77.7 9

Relevant External Links for SLC17A5

GeneTests
SLC17A5
GeneReviews
SLC17A5
Genetic Association Database (GAD)
SLC17A5
Human Genome Epidemiology (HuGE) Navigator
SLC17A5
genes like me logo Genes that share disorders with SLC17A5: view

No data available for Genatlas for SLC17A5 Gene

Publications for SLC17A5 Gene

  1. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. (PMID: 10581036) Verheijen F.W. … Mancini G.M.S. (Nat. Genet. 1999) 2 3 4 23
  2. The spectrum of SLC17A5-gene mutations resulting in free sialic acid- storage diseases indicates some genotype-phenotype correlation. (PMID: 10947946) Aula N. … Peltonen L. (Am. J. Hum. Genet. 2000) 3 4 23
  3. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. (PMID: 12794687) Martin R.A. … Gahl W.A. (Am. J. Med. Genet. A 2003) 3 4 23
  4. Functional characterization of wild-type and mutant human sialin. (PMID: 15510212) Morin P. … Gasnier B. (EMBO J. 2004) 3 4 23
  5. Varied mechanisms underlie the free sialic acid storage disorders. (PMID: 15516337) Wreden C.C. … Reimer R.J. (J. Biol. Chem. 2005) 3 23

Products for SLC17A5 Gene

Sources for SLC17A5 Gene

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