SLC17A5 Gene
protein-coding GIFtS: 60
GCID: GC06M074359
|
|
solute carrier family 17 (anion/sugar transporter), member...(Previous name: sialic acid storage disease )
(Previous symbol: SIASD)
| |
Aliases
for SLC17A5 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Solute Carrier Family 17 (Anion/Sugar Transporter), Member 51 2 | | Membrane Glycoprotein HP592 3 | | AST1 2 3 | | Solute Carrier Family 17 Member 52 3 | | SIASD1 2 5 | | Vesicular H(+)/Aspartate-Glutamate Cotransporter2 3 | | SLD1 2 5 | | H(+)/Nitrate Cotransporter2 3 | | ISSD1 2 | | H(+)/Sialic Acid Cotransporter2 3 | | NSD1 2 | | Sialin1 | | SD1 2 | | Sodium/Sialic Acid Cotransporter2 | | SIALIN1 2 | | Solute Carrier Family 17, Member 52 | | Sialic Acid Storage Disease1 2 | | |
Export aliases for SLC17A5 gene to outside databasesPrevious GC identifers: GC06M074261 GC06M074298 GC06M071502 |
Summaries
for SLC17A5 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SLC17A5:
This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surfacelipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantilesialic acid storage disorder and and Salla disease, an adult form. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2Function: Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved fromsialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate andglutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functionsas an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating thephysiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva
Gene Wiki entry for SLC17A5
|
Genomic Views
for SLC17A5 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007299.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SLC17A5 gene promoter:
Nkx3-1 Nkx6-1 p53 AP-1 ATF-2 c-Jun Cdc5 Hlf
Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC17A5
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC17A5 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6q13 Ensembl cytogenetic band: 6q13 HGNC cytogenetic band: 6q13SLC17A5 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M074359: view genomic region
(about GC identifiers)
Start:
|
74,303,102 bp from pter |
End:
|
74,363,878 bp from pter |
Size:
|
60,777 bases |
Orientation:
|
minus strand |
|
Proteins
for SLC17A5 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2 (See
protein sequence)Recommended Name: Sialin Size: 495 amino acids; 54640 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synapticvesicle membrane. Lysosome membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAF97769.1; Type=Erroneous initiation;
Secondary accessions: Q5SZ76 Q8NBR5 Q9UGH0Alternative splicing: 2 isoforms: Q9NRA2-1 Q9NRA2-2 Explore the universe of human proteins at neXtProt for SLC17A5: NX_Q9NRA2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NRA2
SLC17A5 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_036566.1
ENSEMBL proteins: ENSP00000348019 ENSP00000376742 Reactome Protein details: Q9NRA2
Human Recombinant Protein Products for SLC17A5:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
SLC17A5 for ontologies About GeneDecksing
SLC17A5 Antibody Products:
Assay Products for SLC17A5: |
Protein
Domains /
Families
for SLC17A5 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC17A5 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NRA2ProtoNet protein and cluster: Q9NRA2 UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2Similarity: Belongs to the major facilitator superfamily. Sodium/anion cotransporter family |
Function
for SLC17A5 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: S17A5_HUMAN, Q9NRA2Function: Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved fromsialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate andglutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functionsas an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating thephysiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva Genatlas biochemistry entry for SLC17A5:solute carrier family 17 member 5,anion/cation symporters
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
SLC17A5 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for SLC17A5:
8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Slc17a5):
SLC17A5 for phenotypes About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC17A5 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC17A5 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SLC17A5 (NM_012434) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC17A5 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC17A5 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC17A5 |
|
Pathways & Interactions
for SLC17A5 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Amino acid and oligopeptide SLC transporters | | | 2 | SLC-mediated transmembrane transport | | | 3 | Organic anion transporters | | | 4 | Lysosome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5 
Reactome Pathways for SLC17A5
1 
Kegg Pathway (Kegg details for SLC17A5):
SLC17A5 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC17A5
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for SLC17A5 (ENSP000003480194) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
SLC17A5 for ontologies About GeneDecksing
|
Drugs & Compounds
for SLC17A5 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SLC17A5 for compounds About GeneDecksing
 Browse Tocris compounds for SLC17A5
1 HMDB Compound for SLC17A5 About this table
10/152 Novoseek chemical compound relationships for SLC17A5 gene (see all 152) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| aspartate |
96.4 |
1529 |
11684554 (6), 18695252 (4), 12887345 (2), 15644569 (2) (see all 99) |
| alanine |
93.4 |
995 |
15644569 (2), 18623984 (2), 15801922 (2), 1403344 (1) (see all 99) |
| creatinine |
76.9 |
394 |
16324360 (4), 17300133 (3), 11229247 (3), 18680237 (2) (see all 99) |
| nash |
75.7 |
24 |
18546525 (3), 10201476 (2), 20398192 (2), 19013463 (2) (see all 16) |
| lactate |
70.2 |
224 |
8819358 (3), 2044472 (2), 17101152 (2), 16324360 (2) (see all 99) |
| ursodeoxycholic acid |
67.9 |
27 |
8122652 (2), 10355503 (2), 19522030 (2), 8315262 (1) (see all 19) |
| alpha-hydroxybutyrate |
66.2 |
9 |
14761575 (1), 10370734 (1), 18971188 (1), 1424434 (1) (see all 9) |
| uric acid |
65.7 |
93 |
1403344 (8), 18337059 (3), 16254256 (2), 17903117 (2) (see all 68) |
| cholesterol |
64.1 |
235 |
1403344 (8), 14600835 (2), 19443308 (2), 15329185 (2) (see all 99) |
| urea |
58.8 |
76 |
1403344 (8), 2044472 (2), 18623984 (2), 15660441 (2) (see all 62) |
Search CenterWatch for drugs/clinical trials and news about SLC17A5 / S17A5
|
Transcripts
for SLC17A5 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SLC17A5 gene: NM_012434.4 Unigene Cluster for SLC17A5: Solute carrier family 17 (anion/sugar transporter), member 5 Hs.597422 [show with all ESTs]Unigene Representative Sequence: NM_0124343 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000355773(uc010kax.3 uc003phn.4 uc010kay.3 uc011dyo.1)
ENST00000481996 ENST00000393019
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC17A5 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC17A5 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SLC17A5 (NM_012434) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC17A5 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC17A5 |
Additional cDNA sequence: AF244577.1 AJ387747.1 AK025880.1 AK026921.1 AK075320.1 AK294068.1 AK315789.1 BC020961.2 7 DOTS entries: DT.214944 DT.100787413 DT.100787408 DT.95265203 DT.100787410 DT.99928162 DT.95151902 22 AceView cDNA sequences: AK075320 N90852 CR618872 AW169975 AK025880 BX105002 AI927049 BC020961 AK026921 AF244577 AW271944 BX412497 AJ387747 NM_012434 H71642 BE004141 H71643 CK824948 BG149365 AW182150 BI005328 BI047171
GeneLoc Exon Structure
|
Expression
for SLC17A5 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SLC17A5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTTCAGAAC
About this image
See SLC17A5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC17A5
SOURCE GeneReport for Unigene cluster: Hs.597422
UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2Tissue 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 andlung, but is not detected in endothelial cells from the corresponding normal tissues
SABiosciences Expression via Pathway-Focused PCR Array including SLC17A5:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC17A5
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC17A5 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC17A5 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC17A5 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC17A5 |
Orthologs
for SLC17A5 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SLC17A5 gene from 8/26 species (see all 26) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SLC17A51 |
solute carrier family 17 (anion/sugar transporter), more |
75.68(n)
79.63(a) |
|
421863 NM_001031086.1 NP_001026257.1 |
lizard
(Anolis carolinensis) |
Reptilia |
SLC17A56 |
-- |
69(a) |
1 ↔ 1 |
GL343341.1(68934-84917) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.163552 |
Xenopus laevis transcribed sequence with weak similarity more |
72.85(n) |
|
CF289959.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
slc17a51 |
solute carrier family 17 (anion/sugar transporter), more |
63.9(n)
65.35(a) |
|
767760 NM_001076727.1 NP_001070195.1 |
mosquito
(Anopheles gambiae) |
Insecta |
AgaP_AGAP0065941 |
AGAP006594-PB |
51.19(n)
46.42(a) |
|
1277177 XM_316621.3 XP_316621.3 |
worm
(Caenorhabditis elegans) |
Secernentea |
ZK54.13
C38C10.21 |
phosphate transporter3
Protein C38C10.21 |
42(a)
(best of 16)3
50.58(n)1
41.67(a)1 |
|
X(17491722-17497478)3
1763171 NM_066664.31 NP_499065.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
PHT4;11 |
sodium-dependent phosphate transport protein 1 |
48.73(n)
37.84(a) |
|
817515 NM_128519.5 NP_180526.1 |
rice
(Oryza sativa) |
Liliopsida |
Os01g02797001 |
hypothetical protein |
47.5(n)
38.33(a) |
|
4326905 NM_001049284.1 NP_001042749.1 |
ENSEMBL Gene Tree for SLC17A5 (if available)
TreeFam Gene Tree for SLC17A5 (if available) |
Paralogs
for SLC17A5 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SLC17A5 gene
- SLC17A72 SLC17A82 SLC17A32 SLC17A62 SLC17A42 SLC17A12 SLC17A92 SLC17A22
8 SIMAP similar genes for SLC17A5 using alignment to 3 protein entries: S17A5_HUMAN (see all proteins):SLC17A8 SLC17A3 SLC17A6 SLC17A7 SLC17A2 SLC17A1
SLC17A4 SLC17A9
SLC17A5 for paralogs About GeneDecksing
|
Genomic Variants
for SLC17A5 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SLC17A5 (74303102 - 74363878 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SLC17A5
1 CNV: 64558
Human Gene Mutation Database (HGMD): SLC17A5
| 1 SABiosciences Cancer Mutation PCR Assay for SLC17A5: | Cosmic Id | AA Change |
|---|
| 106992 | p.R364C |
|
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC17A5 |
|
Disorders
/ Diseases
for SLC17A5 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SLC17A5 for disorders About GeneDecksing
OMIM gene information: 604322
OMIM disorders: 604369 269920
UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2
Defects in SLC17A5 are the cause of Salla disease (SD) [MIM:604369]; also known as Finnish type sialuria. SDis a sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized byhypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acidwhich 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 than1 year and progression is slow Defects in SLC17A5 are the cause of infantile sialic acid storage disorder (ISSD) [MIM:269920]; also known asN-acetylneuraminic acid storage disease (NSD). ISSD is a severe form of sialic acid storage disease. Affected newbornsexhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortenedlife span, usually less than 2 years Note=Infantile sialic acid storage disorder is associated with non-immune hydrops fetalis, a generalized edemaof the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is nota diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety ofdisorders
20/221  diseases for SLC17A5 (see all 221): About MalaCardssialic acid storage disorder infantile free sialic acid storage disease salla disease free sialic acid storage disorders
neonatal intrahepatic cholestasis caused by citrin deficiency rocky mountain spotted fever crimean-congo hemorrhagic fever non-a-e hepatitis
scrub typhus lichen planus pigmentosus porphyria cutanea tarda hydrops fetalis
pre-eclampsia thrombotic thrombocytopenic purpura drug-induced hepatitis severe pre-eclampsia
citrin deficiency creatine phosphokinase hemorrhagic fever iron overload
4 diseases from the University of Copenhagen DISEASES database for SLC17A5:Verbal auditory agnosia Pelizaeus-Merzbacher disease Kidney fibrosarcoma Lysosomal storage disease 10/96 Novoseek disease relationships for SLC17A5 gene (see all 96) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| liver diseases |
82.9 |
73 |
17669242 (3), 15770731 (2), 17352018 (2), 17379201 (2) (see all 58) |
| fatty liver |
82 |
47 |
7752170 (2), 18223632 (2), 19709695 (2), 19214024 (2) (see all 37) |
| liver damage |
81.4 |
30 |
7913793 (1), 7539393 (1), 16437641 (1), 16731817 (1) (see all 30) |
| liver dysfunction |
78.5 |
27 |
8943756 (2), 18788383 (1), 14500044 (1), 15297742 (1) (see all 16) |
| sialic acid storage disease |
77.7 |
11 |
18399798 (2), 16023578 (2), 19557856 (1), 15172001 (1) (see all 7) |
| liver fibrosis |
77.4 |
45 |
18546525 (2), 10894594 (2), 15485795 (2), 17914968 (2) (see all 29) |
| hepatitis c chronic |
77.3 |
17 |
18309644 (1), 16863553 (1), 16416188 (1), 10894594 (1) (see all 17) |
| hepatitis |
77.3 |
71 |
12499816 (4), 12460038 (3), 14504367 (3), 9439157 (2) (see all 50) |
| hepatitis b chronic |
74.5 |
15 |
8237937 (1), 18025069 (1), 19752878 (1), 20157869 (1) (see all 15) |
| hepatitis c |
73.3 |
35 |
8743227 (1), 11550570 (1), 12385449 (1), 16268817 (1) (see all 31) |
GeneTests: SLC17A5
Free Sialic Acid Storage Disorders
Human Genome Epidemiology (HuGE) Navigator: SLC17A5 (4 documents)
Export disorders for SLC17A5 gene to outside databases
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Publications
for SLC17A5 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for SLC17A5 gene, integrated from 9 sources (see all 1548):
(articles sorted by number of sources associating them with SLC17A5) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. (PubMed id 10581036)1, 2, 3, 9 Verheijen F.W....Mancini G.M.S. (1999)
- Functional characterization of wild-type and mutant human sialin. (PubMed id 15510212)1, 2, 9 Morin P....Gasnier B. (2004)
- Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. (PubMed id 12794687)1, 2, 9 Martin R.A.... Gahl W.A. (2003)
- The spectrum of SLC17A5-gene mutations resulting in free sialic acid- storage diseases indicates some genotype-phenotype correlation. (PubMed id 10947946)1, 2, 9 Aula N.... Peltonen L. (2000)
- Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. (PubMed id 22778404)1, 2 Qin L.... Wang S. (2012)
- Functional characterization of vesicular excitatory a mino acid transport by human sialin. (PubMed id 21781115)1, 2 Miyaji T....Moriyama Y. (2011)
- Structure-function studies of the SLC17 transporter s ialin identify crucial residues and substrate-induced conformational changes. (PubMed id 20424173)1, 2 Courville P....Reimer R.J. (2010)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis. (PubMed id 11751519)1, 2 Fu C.... Hellerqvist C.G. (2001)
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External Searches for SLC17A5 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SLC17A5 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SLC17A5 gene
(According to HUGE)
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Specialized Databases showing SLC17A5 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for SLC17A5 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC17A5 |
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| Patent Information for SLC17A5 gene:
Search GeneIP for patents involving SLC17A5
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SLC17A5 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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