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Gene: SLC5A7 (solute carrier family 5 member 7) Homo sapiens
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Symbol: SLC5A7
Name: solute carrier family 5 member 7
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHT; CHT1; CMS20; hCHT; hemicholinium-3-sensitive choline transporter; high affinity choline transporter; high affinity choline transporter 1; HMN7A; MGC126299; MGC126300; solute carrier family 5 (choline transporter), member 7; solute carrier family 5 (sodium/choline cotransporter), member 7
Orthologs:
Mus musculus (house mouse) : Slc5a7 (solute carrier family 5 (choline transporter), member 7)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc5a7 (solute carrier family 5 member 7)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc5a7 (solute carrier family 5 member 7)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC5A7 (solute carrier family 5 member 7)
Canis lupus familiaris (dog) : SLC5A7 (solute carrier family 5 member 7)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc5a7 (solute carrier family 5 member 7)
Sus scrofa (pig) : SLC5A7 (solute carrier family 5 member 7)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382107,986,524 - 108,014,497 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372108,602,979 - 108,630,663 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362107,969,427 - 107,996,876 (+)NCBINCBI36hg18NCBI36
Build 342108,061,512 - 108,088,957NCBI
Celera2102,911,066 - 102,938,509 (+)NCBI
Cytogenetic Map2q12.3NCBI
HuRef2102,202,059 - 102,229,471 (+)NCBIHuRef
CHM1_12108,606,842 - 108,634,745 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC5A7
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1348839
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.