SLC5A7 (solute carrier family 5 member 7)

2014-11-01  

Identity

HGNC
LOCATION
2q12.3
LOCUSID
ALIAS
CHT,CHT1,CMS20,HMN7A

Other Information

Locus ID:

NCBI: 60482
MIM: 608761
HGNC: 14025
Ensembl: ENSG00000115665

Variants:

dbSNP: 60482
ClinVar: 60482
TCGA: ENSG00000115665
COSMIC: SLC5A7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115665ENST00000264047Q9GZV3
ENSG00000115665ENST00000409059Q9GZV3

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Cholinergic synapseKEGGhsa04725
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Acetylcholine Neurotransmitter Release CycleREACTOMER-HSA-264642
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
168761302006Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function.30
168761302006Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function.30
233926632013The presynaptic choline transporter imposes limits on sustained cortical acetylcholine release and attention.29
246661282014Disposed to distraction: genetic variation in the cholinergic system influences distractibility but not time-on-task effects.29
122373122002Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate.27
231412922012Defective presynaptic choline transport underlies hereditary motor neuropathy.26
170058492006Na+, Cl-, and pH dependence of the human choline transporter (hCHT) in Xenopus oocytes: the proton inactivation hypothesis of hCHT in synaptic vesicles.23
157847792005Heart rate variability is associated with polymorphic variation in the choline transporter gene.20
275695472016Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.16

Citation

Dessen P

SLC5A7 (solute carrier family 5 member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73465/slc5a7