Gene table of SLC5A7 : solute carrier family 5 member 7

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC5A7	OMIM link	Number of associated genes	genes
158580	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA	OMIM	link to OMIM	1	SLC5A7

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Cholinergic synapse	hsa04725	5.88
Choline metabolism in cancer	hsa05231	6.09

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Transmembrane transport of small molecules	R-HSA-382551	3.79
SLC-mediated transmembrane transport	R-HSA-425407	4.95
Acetylcholine Neurotransmitter Release Cycle	R-HSA-264642	8.89
Neuronal System	R-HSA-112316	4.82
Transmission across Chemical Synapses	R-HSA-112315	5.28
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	R-HSA-425366	6.34
Neurotransmitter Release Cycle	R-HSA-112310	7.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
choline:sodium symporter activity	GO:0005307	9.74
binding	GO:0005488	0.18
ion transmembrane transporter activity	GO:0015075	3.04
sodium ion transmembrane transporter activity	GO:0015081	4.83
transmembrane transporter activity	GO:0022857	2.82
ion binding	GO:0043167	1.36
solute:sodium symporter activity	GO:0015370	5.83
metal ion transmembrane transporter activity	GO:0046873	3.71
active transmembrane transporter activity	GO:0022804	3.85
solute:cation symporter activity	GO:0015294	5.15
choline transmembrane transporter activity	GO:0015220	7.79
secondary active transmembrane transporter activity	GO:0015291	4.29
symporter activity	GO:0015293	4.78
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
ammonium transmembrane transporter activity	GO:0008519	6.91
ammonium ion binding	GO:0070405	5.81
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
choline binding	GO:0033265	7.95