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]
