full name
solute carrier family 5 member 7

synonyms
CHT, CHT1, hCHT, HMN7A, SLC5A7, ENSG00000115665

HGNC
HGNC:14025

Entrez Gene
Gene:60482

ENSEMBL
ENSG00000115665

location
chr: 2
start: 108602979
stop: 108630663
strand: +

OMIM
OMIM:608761: SLC5A7
OMIM:617143: Myasthenic syndrome, congenital, 20, presynaptic
OMIM:158580: Neuronopathy, distal hereditary motor, type VIIA

transcripts
NM_021815.2

pathways
Acetylcholine Neurotransmitter Release Cycle [NCBI:1268773] [REACTOME:R-HSA-264642] [PUBMED:18029057]
Choline metabolism in cancer [NCBI:1059539] [KEGG:hsa05231] [PUBMED:23076158] [PUBMED:19264150] [PUBMED:16230400] [PUBMED:23350810] [PUBMED:22429397] [PUBMED:16432178] [PUBMED:19136975] [PUBMED:22089420] [PUBMED:14517341] [PUBMED:22921309] [PUBMED:19855431] [PUBMED:20528734] [PUBMED:19935796] [PUBMED:14523987] [PUBMED:21793073]
Cholinergic synapse [NCBI:217716] [KEGG:hsa04725] [PUBMED:20060019] [PUBMED:11283752] [PUBMED:15165747] [PUBMED:12893537] [PUBMED:11738031] [PUBMED:21550798] [PUBMED:19712465] [PUBMED:12690458] [PUBMED:12436417] [PUBMED:19378880] [PUBMED:11923408] [PUBMED:20446119]
Neuronal System [NCBI:1268763] [REACTOME:R-HSA-112316]
Neurotransmitter Release Cycle [NCBI:1268768] [REACTOME:R-HSA-112310] [PUBMED:15217342] [PUBMED:16819626] [PUBMED:17880890] [PUBMED:16865347]
SLC-mediated transmembrane transport [NCBI:1269907] [REACTOME:R-HSA-425407] [PUBMED:14624363] [PUBMED:19164095]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]
Transmission across Chemical Synapses [NCBI:1268766] [REACTOME:R-HSA-112315]
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds [NCBI:1269923] [REACTOME:R-HSA-425366] [PUBMED:12811562] [PUBMED:12748858] [PUBMED:12750891] [PUBMED:19164095]