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SLC17A5 Gene(Protein Coding)

Solute Carrier Family 17 Member 5

GCID:
GC06M073593
GIFtS:
53
Genes Participants
UDN Logo

Aliases for SLC17A5 Gene

Aliases for SLC17A5 Gene

  • Solute Carrier Family 17 Member 5 2 3 4 5
  • 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
  • AST 3 4
  • Sodium/Sialic Acid Cotransporter 3
  • SIALIN 3
  • SIASD 3
  • ISSD 3
  • NSD 3
  • SLD 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 Member 5) is a Protein Coding gene. Diseases associated with SLC17A5 include Salla Disease and Infantile Sialic Acid Storage Disease. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include sugar:proton symporter activity and sialic acid transmembrane transporter activity. An important paralog of this gene is SLC17A6.

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

Additional gene information for SLC17A5 Gene

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

Genomics for SLC17A5 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SLC17A5 Gene

Promoters and enhancers for SLC17A5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06I073652 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 574.3 +0.1 132 3.6 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 ZNF143 SLC17A5 LOC101928489 GC06P073619
GH06I073577 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 34.4 +74.5 74467 5.1 HDGF CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B SLC17A5 MTO1 EEF1A1 LOC105377857 CD109 CGAS GC06P073558 GC06P073601
GH06I073584 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 32.9 +68.0 68020 3.1 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT FEZF1 ZNF2 YY1 ZNF592 SLC17A5 EEF1A1 LOC105377857 EIF3EP1 CGAS ENSG00000229852 CD109 GC06P073601 GC06P073558
GH06I073513 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 15.1 +135.0 135026 11.3 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 EEF1A1 GC06M073517 GC06M073519 MTO1 EIF3EP1 SLC17A5 ENSG00000229852 LOC105377857 GC06M073521
GH06I073460 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.5 +192.3 192320 2.5 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 SP3 MTO1 EEF1A1 EIF3EP1 KHDC1 SLC17A5 ENSG00000229852 CD109 RPL39P3 RNU6-975P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC17A5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC17A5 gene promoter:

Genomic Locations for SLC17A5 Gene

Genomic Locations for SLC17A5 Gene
chr6:73,593,379-73,654,155
(GRCh38/hg38)
Size:
60,777 bases
Orientation:
Minus strand
chr6:74,303,102-74,363,878
(GRCh37/hg19)

Genomic View for SLC17A5 Gene

Genes around SLC17A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC17A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC17A5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC17A5 Gene

Proteins for SLC17A5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for SLC17A5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC17A5 Gene

  • Ubiquitination at isoforms=2263 and posLast=278278
  • Glycosylation at posLast=7171, posLast=7777, and posLast=9595

Other Protein References for SLC17A5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC17A5 Gene

Domains & Families for SLC17A5 Gene

Gene Families for SLC17A5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for SLC17A5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC17A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NRA2

UniProtKB/Swiss-Prot:

S17A5_HUMAN :
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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,IEA 10581036
GO:0015293 symporter activity IEA --
GO:0015538 sialic acid:proton symporter activity TAS --
genes like me logo Genes that share ontologies with SLC17A5: view
genes like me logo Genes that share phenotypes with SLC17A5: view

Human Phenotype Ontology for SLC17A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC17A5 Gene

MGI Knock Outs for SLC17A5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets 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; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC17A5 gene
Compartment Confidence
plasma membrane 5
cytosol 5
lysosome 5
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC17A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA,IEA --
GO:0005887 integral component of plasma membrane TAS 10581036
genes like me logo Genes that share ontologies with SLC17A5: view

Pathways & Interactions for SLC17A5 Gene

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

Gene Ontology (GO) - Biological Process for SLC17A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006820 anion transport TAS 10581036
GO:0006865 amino acid transport IEA --
GO:0015739 sialic acid transport IDA,IEA 10581036
genes like me logo Genes that share ontologies with SLC17A5: view

No data available for SIGNOR curated interactions for SLC17A5 Gene

Drugs & Compounds for SLC17A5 Gene

Products:

  1. Drug

(102) Drugs for SLC17A5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(50) Additional Compounds for SLC17A5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
 7440-23-5
genes like me logo Genes that share compounds with SLC17A5: view

Transcripts for SLC17A5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SLC17A5 Gene

(6) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC17A5 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC17A5 Gene

mRNA expression in normal human tissues for SLC17A5 Gene
mRNA expression by GTEx for SLC17A5 GenemRNA expression by BioGPS for SLC17A5 Gene

Protein differential expression in normal tissues from HIPED for SLC17A5 Gene

This gene is overexpressed in Nasal epithelium (62.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC17A5 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC17A5 Gene:

SLC17A5

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.

Evidence on tissue expression from TISSUES for SLC17A5 Gene

  • Intestine(4.4)
  • Nervous system(3.7)
  • Lung(3.5)
  • Liver(2.8)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC17A5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SLC17A5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-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
chimpanzee
(Pan troglodytes)
 Mammalia SLC17A5 33 34
  • 99.6 (n)
dog
(Canis familiaris)
 Mammalia SLC17A5 33 34
  • 90.37 (n)
cow
(Bos Taurus)
 Mammalia SLC17A5 33 34
  • 88.22 (n)
mouse
(Mus musculus)
 Mammalia Slc17a5 33 16 34
  • 83.77 (n)
rat
(Rattus norvegicus)
 Mammalia Slc17a5 33
  • 82.89 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 82 (a)
 OneToMany
-- 34
  • 70 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia SLC17A5 34
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SLC17A5 33 34
  • 75.57 (n)
lizard
(Anolis carolinensis)
 Reptilia SLC17A5 34
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia slc17a5 33
  • 70.2 (n)
Str.9993 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.16355 33
zebrafish
(Danio rerio)
 Actinopterygii slc17a5 33 34
  • 63.9 (n)
fruit fly
(Drosophila melanogaster)
 Insecta MFS10 33
  • 49.54 (n)
CG4288 35
  • 42 (a)
Picot 35
  • 41 (a)
CG4330 35
  • 40 (a)
BG:DS07660.1 35
  • 37 (a)
CG6978 35
  • 37 (a)
CG15094 35
  • 36 (a)
CG3036 35
  • 36 (a)
CG4726 35
  • 36 (a)
CG9864 35
  • 36 (a)
l(2)08717 35
  • 36 (a)
CG15096 35
  • 34 (a)
CG8791 35
  • 34 (a)
CG9825 35
  • 31 (a)
CG9826 35
  • 31 (a)
NaPi-T 35
  • 31 (a)
CG7881 35
  • 29 (a)
CG30265 35
  • 28 (a)
CG30272 35
  • 28 (a)
BEST:CK02623 35
  • 27 (a)
CG2003 35
  • 27 (a)
CG3649 35
  • 27 (a)
worm
(Caenorhabditis elegans)
 Secernentea C38C10.2 35 33
  • 50.55 (n)
ZK54.1 35
  • 42 (a)
F25G6.7 35
  • 31 (a)
T19D12.9 35
  • 27 (a)
T27D12.1 35
  • 27 (a)
F44E7.7 35
  • 26 (a)
C02C2.4 35
  • 25 (a)
F12B6.2a 35
  • 25 (a)
F12B6.2b 35
  • 25 (a)
F12B6.2c 35
  • 25 (a)
F45E4.11 35
  • 25 (a)
K10H10.1 35
  • 25 (a)
R10D12.1 35
  • 25 (a)
T09B9.2 35
  • 25 (a)
ZK682.2 35
  • 25 (a)
F21F8.11 35
  • 23 (a)
Species where no ortholog for SLC17A5 was found in the sources mined by GeneCards:
  • 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

(8) 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 Variation AA Info Type
rs1007732318 uncertain-significance, Salla disease 73,594,176(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1021126058 uncertain-significance, Salla disease 73,594,240(-) G/A 3_prime_UTR_variant
rs1034261755 uncertain-significance, Salla disease 73,594,704(-) C/A/T 3_prime_UTR_variant
rs1041347823 uncertain-significance, Salla disease 73,653,942(-) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1057516257 likely-pathogenic, Salla disease 73,641,832(-) A/T coding_sequence_variant, missense_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv950467 CNV duplication 24416366
nsv603694 CNV loss 21841781
nsv527357 CNV gain 19592680
nsv1128260 CNV deletion 24896259
nsv1124091 CNV deletion 24896259
esv3609514 CNV loss 21293372
esv3576178 CNV gain 25503493
esv2662522 CNV deletion 23128226
esv2647946 CNV deletion 19546169
esv23040 CNV loss 19812545
esv1724578 CNV insertion 17803354
esv1085598 CNV deletion 17803354
dgv6015n100 CNV gain 25217958

Variation tolerance for SLC17A5 Gene

Residual Variation Intolerance Score: 21.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.29; 97.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC17A5 Gene

Human Gene Mutation Database (HGMD)
SLC17A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC17A5

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

Disorders for SLC17A5 Gene

MalaCards: The human disease database

(59) MalaCards diseases for SLC17A5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
salla disease
  • sd
infantile sialic acid storage disease
  • issd
intermediate severe salla disease
  • intermediate salla disease
free sialic acid storage disorders
  • n-acetylneuraminic acid storage disease
fascioliasis
  • fasciola hepatica infection
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S17A5_HUMAN
  • 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.
  • 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.

Additional Disease Information for SLC17A5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 FW … Mancini GM (Nature genetics 1999) 2 3 4 22 58
  2. Functional characterization of wild-type and mutant human sialin. (PMID: 15510212) Morin P … Gasnier B (The EMBO journal 2004) 3 4 22 58
  3. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. (PMID: 12794687) Martin RA … Gahl WA (American journal of medical genetics. Part A 2003) 3 4 22 58
  4. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. (PMID: 10947946) Aula N … Peltonen L (American journal of human genetics 2000) 3 4 22 58
  5. Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. (PMID: 22778404) Qin L … Wang S (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 58

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Sources for SLC17A5 Gene

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