gene 764 words KG: SLC17A5
Contents

SLC17A5 Gene

🧬 Gene Info
Gene SymbolSLC17A5
Full NameSolute Carrier Family 17 Member 5 (Sialin)
Chromosome6q13
Functionis an important component in the neurobiology of neurodegenerative diseases.
Amino Acids495 aa
Exons14
PathwaysAlpha-Synuclein, Cholesterol
UniProt ID[Q9NRX3](https://www.uniprot.org/uniprot/Q9NRX3)
Ensembl IDENSG00000183040
GeneCardsSLC17A5
Human Protein AtlasSLC17A5
Exon count14 exons spanning approximately 25 kb
Promoter regionContains regulatory elements for tissue-specific expression
Coding sequenceEncodes a polytopic membrane protein with 10-12 transmembrane domains
Lysosomal exportExports sialic acid from lysosomes using the proton gradient as energy source[@sialin2019]
Associated DiseasesAging, Als, Ms, Parkinson
InteractionsAGING, ALPHA-SYNUCLEIN, asah1, ASAH1, CTSD, GBA
KG Connections65 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Knowledge Graph (12 edges)

SMPD1 associated_with SLC17A5
CTSD associated_with SLC17A5
SLC17A5 associated_with GBA
SLC17A5 associated_with ASAH1
SLC17A5 associated_with SMPD1
SLC17A5 associated_with CTSD
SCARB2 activates SLC17A5
LIPA activates SLC17A5
SLC17A5 activates GNPTAB
SLC17A5 activates SMPD1

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