Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	60482
Gene name	Solute carrier family 5 member 7
Gene symbol	SLC5A7
Synonyms (NCBI Gene)	CHTCHT1CMS20DHMNVPHMN7AHMND7hCHT1
Chromosome	2
Chromosome location	2q12.3
Summary	This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals fo

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SNP ID	Visualize variation	Clinical significance	Consequence
rs147656110	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039765	G>A	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant
rs886039766	C>T	Pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, missense variant
rs886039767	CATC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, intron variant, upstream transcript variant, 5 prime UTR variant
rs886039768	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, upstream transcript variant, 5 prime UTR variant
rs1558872865	G>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT442500	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442498	hsa-miR-323b-3p	PAR-CLIP	22100165
MIRT442499	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT442497	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442500	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442498	hsa-miR-323b-3p	PAR-CLIP	22100165
MIRT442499	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT442497	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT442500	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442498	hsa-miR-323b-3p	PAR-CLIP	22100165
MIRT442499	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT442497	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442500	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442498	hsa-miR-323b-3p	PAR-CLIP	22100165
MIRT442499	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT442497	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT1365808	hsa-miR-1266	CLIP-seq
MIRT1365809	hsa-miR-1283	CLIP-seq
MIRT1365810	hsa-miR-129-5p	CLIP-seq
MIRT1365811	hsa-miR-1825	CLIP-seq
MIRT1365812	hsa-miR-186	CLIP-seq
MIRT1365813	hsa-miR-194	CLIP-seq
MIRT1365814	hsa-miR-2392	CLIP-seq
MIRT1365815	hsa-miR-3134	CLIP-seq
MIRT1365816	hsa-miR-3200-3p	CLIP-seq
MIRT1365817	hsa-miR-3591-3p	CLIP-seq
MIRT1365818	hsa-miR-4423-5p	CLIP-seq
MIRT1365819	hsa-miR-4426	CLIP-seq
MIRT1365820	hsa-miR-4518	CLIP-seq
MIRT1365821	hsa-miR-4647	CLIP-seq
MIRT1365822	hsa-miR-4662b	CLIP-seq
MIRT1365823	hsa-miR-4666-5p	CLIP-seq
MIRT1365824	hsa-miR-4790-3p	CLIP-seq
MIRT1365825	hsa-miR-520d-5p	CLIP-seq
MIRT1365826	hsa-miR-524-5p	CLIP-seq
MIRT1365827	hsa-miR-542-3p	CLIP-seq
MIRT1365828	hsa-miR-548c-3p	CLIP-seq
MIRT1365829	hsa-miR-548p	CLIP-seq
MIRT1365830	hsa-miR-944	CLIP-seq
MIRT2108626	hsa-miR-2054	CLIP-seq
MIRT1365816	hsa-miR-3200-3p	CLIP-seq
MIRT2108627	hsa-miR-337-3p	CLIP-seq
MIRT2108628	hsa-miR-3685	CLIP-seq
MIRT2108629	hsa-miR-380	CLIP-seq
MIRT2108630	hsa-miR-384	CLIP-seq
MIRT2108631	hsa-miR-4760-3p	CLIP-seq
MIRT1365829	hsa-miR-548p	CLIP-seq
MIRT2108632	hsa-miR-664	CLIP-seq
MIRT1365810	hsa-miR-129-5p	CLIP-seq
MIRT2332223	hsa-miR-3140-3p	CLIP-seq
MIRT2332224	hsa-miR-3145-5p	CLIP-seq
MIRT2332225	hsa-miR-3160-5p	CLIP-seq
MIRT2332226	hsa-miR-329	CLIP-seq
MIRT2332227	hsa-miR-3674	CLIP-seq
MIRT2332228	hsa-miR-3682-5p	CLIP-seq
MIRT2332229	hsa-miR-4474-5p	CLIP-seq
MIRT2332230	hsa-miR-4659a-3p	CLIP-seq
MIRT2332231	hsa-miR-4659b-3p	CLIP-seq
MIRT2332232	hsa-miR-4716-5p	CLIP-seq
MIRT2332233	hsa-miR-4719	CLIP-seq
MIRT2332234	hsa-miR-4778-3p	CLIP-seq
MIRT2332235	hsa-miR-491-3p	CLIP-seq
MIRT2332236	hsa-miR-508-5p	CLIP-seq
MIRT2332234	hsa-miR-4778-3p	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005307	Function	Choline:sodium symporter activity	IBA
GO:0005307	Function	Choline:sodium symporter activity	IDA	11068039, 17005849
GO:0005307	Function	Choline:sodium symporter activity	IMP	12237312
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12237312
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006836	Process	Neurotransmitter transport	TAS
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IEA
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0008292	Process	Acetylcholine biosynthetic process	IBA
GO:0008292	Process	Acetylcholine biosynthetic process	IDA	11027560
GO:0008292	Process	Acetylcholine biosynthetic process	IEA
GO:0008292	Process	Acetylcholine biosynthetic process	IMP	11068039
GO:0015220	Function	Choline transmembrane transporter activity	IDA	11027560, 11068039, 12969261, 17005849, 23141292
GO:0015220	Function	Choline transmembrane transporter activity	IEA
GO:0015220	Function	Choline transmembrane transporter activity	IMP	11068039, 12237312, 23132865, 27569547
GO:0015220	Function	Choline transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0015871	Process	Choline transport	IBA
GO:0015871	Process	Choline transport	IDA	11027560, 11068039, 12969261, 17005849, 23141292
GO:0015871	Process	Choline transport	IEA
GO:0015871	Process	Choline transport	IMP	12237312, 23132865, 27569547
GO:0016020	Component	Membrane	IDA	11027560
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030672	Component	Synaptic vesicle membrane	IDA	12969261
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031594	Component	Neuromuscular junction	IDA	27569547
GO:0031901	Component	Early endosome membrane	IDA	12969261
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	IMP	15953352
GO:0033265	Function	Choline binding	IEA
GO:0042734	Component	Presynaptic membrane	IDA	12969261, 27569547
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043204	Component	Perikaryon	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0098793	Component	Presynapse	IEA

MIM	HGNC	e!Ensembl
608761	14025	ENSG00000115665

Q9GZV3

Protein name

High affinity choline transporter 1 (hCHT1) (Hemicholinium-3-sensitive choline transporter) (CHT) (Solute carrier family 5 member 7)

Protein function

High-affinity Na(+)-coupled choline transmembrane symporter (PubMed:11027560, PubMed:11068039, PubMed:12237312, PubMed:12969261, PubMed:17005849, PubMed:23132865, PubMed:23141292, PubMed:27569547). Functions as an electrogenic, voltage-dependent

PDB

8J74 , 8J75 , 8J76 , 8J77 , 8ZQO , 8ZQP , 8ZQQ , 8ZQR , 9BFI , 9BFJ , 9BFK , 9BIM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00474	SSF	42 → 442	Sodium:solute symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in putamen, spinal cord and medulla (PubMed:11027560, PubMed:11068039). Expressed in cholinergic neurons (PubMed:27569547). {ECO:0000269|PubMed:11027560, ECO:0000269|PubMed:11068039, ECO:0000269|PubMed:27569547}.

Sequence

MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTA
TWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQ
IYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGG
LYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVDSSEVYSW
LDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDW
NQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFA
RNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQ
LLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGYYPDDNGIYNQKFPFK
TLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEENMDKTILVKNENIKLD
ELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ

Sequence length

580

Interactions

View interactions

	KEGG		Reactome
	Cholinergic synapse Choline metabolism in cancer		Acetylcholine Neurotransmitter Release Cycle Transport of bile salts and organic acids, metal ions and amine compounds Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)

856

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease type 2	Likely pathogenic	rs2104379614	RCV002221639
Congenital myasthenic syndrome 20	Pathogenic; Likely pathogenic	rs147656110, rs886039767, rs886039768, rs2467051596, rs2467132050, rs2467132951	RCV000256186 RCV000256182 RCV000256183 RCV003484238 RCV003485004 RCV003485005
Neuronopathy, distal hereditary motor, type 7A	Likely pathogenic	rs2467117257, rs2467133875	RCV003226145 RCV003494083

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity	rs1558872865	RCV000790226
Distal spinal muscular atrophy	Conflicting classifications of pathogenicity	rs773393717	RCV000664256
Prostate cancer	Uncertain significance	rs193921021	RCV000149286
SLC5A7-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs765428136, rs759885480, rs886039766, rs2467131671, rs143876748, rs1558872865, rs78245030, rs138945146, rs773790295, rs369362436, rs144772225, rs3731682, rs192964655	RCV004754731 RCV003926278 RCV003909895 RCV003408436 RCV003915546 RCV003894840 RCV003928081 RCV003905724 RCV003895332 RCV003930414 RCV003938316 RCV003965759 RCV003955733
Uterine corpus endometrial carcinoma	Likely benign	rs113238383	RCV005917812

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthrogryposis	Associate	27569547
Atherosclerosis	Associate	21337021
Autonomic Nervous System Diseases	Associate	27569547
Carotid Artery Diseases	Associate	21337021
Cognition Disorders	Associate	24666128, 27569547
Colorectal Neoplasms	Associate	26208990
Colorectal Neoplasms	Inhibit	35858918
Congenital myasthenic syndrome ib	Associate	27569547, 36840359
Congenital myasthenic syndrome with episodic apnea	Associate	27569547, 29189923
Distal Hereditary Motor Neuropathy Type II	Associate	23141292
Muscle Hypotonia	Associate	27569547
Muscle Weakness	Associate	27569547
Muscular Atrophy Spinal	Associate	23141292
Myasthenic Syndromes Congenital	Associate	27569547, 36840359
Neoplasms	Associate	28427185
Neoplasms	Inhibit	35858918
Neuromuscular Manifestations	Associate	36840359
Neuropathy Distal Hereditary Motor Type VIIA	Associate	27569547
Peripheral Nervous System Diseases	Associate	23141292
Spinal Muscular Atrophy Distal Autosomal Recessive 3	Associate	27569547

SLC5A7 (solute carrier family 5 member 7)