Gene Information
|
Gene Name
|
SLC5A7 |
|
Gene ID
|
60482
|
|
Gene Full Name
|
solute carrier family 5 member 7 |
|
Gene Alias
|
CHT|CHT1|CMS20|DHMNVP|HMN7A|HMND7|hCHT1 |
|
Transcripts
|
ENSG00000115665
|
|
Virus
|
HBV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Cell Junctions, Intermediate filaments;Nuclear bodies;
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters |
|
Uniport_ID
|
Q9GZV3
|
|
HGNC ID
|
HGNC:14025
|
|
OMIM ID
|
608761 |
|
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 for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] |
Target gene [SLC5A7] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 1014676 |
chr2 |
3 |
0 |
0 |
3 |
View |
| 1014677 |
chr2 |
3 |
0 |
0 |
3 |
View |
Target gene [SLC5A7] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE236281
|
RNA-seq |
12 |
Illumina MiSeq (Homo sapiens) |
|
C GSE68402
|
Chip-seq |
26 |
Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens) |
|
TCGA_LIHC_HBV
|
DNA methylation sequencing;RNA-seq |
97 |
TCGA |
|
GSE224901
|
RNA-seq |
21 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE100400
|
Chip-seq;RNA-seq;4C_cccDNA |
31 |
Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus) |
|
GSE173897
|
RNA-seq |
95 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE262515
|
RNA-seq |
21 |
Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus) |
|
GSE110345
|
RNA-seq |
4 |
Illumina HiSeq 2500 (Homo sapiens) |
|
C GSE131257
|
ATAC-seq;RNA-seq |
19 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE94660
|
RNA-seq |
42 |
Illumina HiSeq 2500 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE68402 - SLC5A7 peak across samples
|
Peak Plot
|
> Dataset: GSE131257 - SLC5A7 peak across samples
|
Peak Plot
|
|
|