Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: SLC5A7 (solute carrier family 5 member 7) Homo sapiens
Analyze
Symbol: SLC5A7
Name: solute carrier family 5 member 7
Description: Exhibits choline:sodium symporter activity. Involved in acetylcholine biosynthetic process. Localizes to integral component of membrane; neuromuscular junction; and plasma membrane. Implicated in congenital myasthenic syndrome 20 and distal hereditary motor neuronopathy type 7A.
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)
Chlorocebus sabaeus (African green monkey) : SLC5A7 (solute carrier family 5 member 7)
Heterocephalus glaber (naked mole-rat) : 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
GRCh38 Ensembl2107,986,523 - 108,013,994 (+)EnsemblGRCh38hg38GRCh38
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

Expression

RNA-SEQ Expression

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

CRRD Object Information
CRRD ID: 1348839
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-05-05
Status: ACTIVE



NHLBI Logo

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