solute carrier family 17 member 5

Summary
Gene Symbol
  • SLC17A5
Aliases
  • AST
  • ISSD
  • NSD
  • SD
  • SIALIN
  • SLD
  • Salla disease
  • acidic sugar transporter
  • infantile sialic acid storage disorder
Organism
Homo sapiens (human)
NCBI Gene
26503
HGNC
10933
KEGG Gene ID
hsa:26503
PubChem
26503
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Amino-acid transport
  • Cell membrane
  • Cytoplasmic vesicle
  • Disease variant
  • Glycoprotein
  • Lysosome
  • Phosphoprotein
  • Reference proteome
  • Symport
  • Synapse
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9NRA2
  • H(+)/nitrate cotransporter
  • H(+)/sialic acid cotransporter
  • Membrane glycoprotein HP59
  • Solute carrier family 17 member 5
  • Vesicular excitatory amino acid transporter
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
transporter
Functional Category
  • C: Energy production and conversion
  • E: Amino acid transport and metabolism
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K12301
Name
MFS transporter, ACS family, solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 5
References
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:3211 lysosomal storage disease
DOID:3659 sialuria
The Human Phenotype Ontology
Displaying entries 31 - 40 of 44 in total
HPO ID HPO Term
HP:0001760 Abnormal foot morphology
HP:0001789 Hydrops fetalis
HP:0001922 Vacuolated lymphocytes
HP:0001939 Abnormality of metabolism/homeostasis
HP:0002059 Cerebral atrophy
HP:0002240 Hepatomegaly
HP:0002286 Fair hair
HP:0002305 Athetosis
HP:0002540 Inability to walk
HP:0002680 J-shaped sella turcica
Displaying all 2 entries
Disease ID Disease Name
OMIM:269920
  • free sialic acid storage disease, infantile form
OMIM:604369
  • Salla disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024