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Slc5a7
Gene Detail
Symbol

Name
ID
Slc5a7
solute carrier family 5 (choline transporter), member 7
MGI:1927126
Synonyms
CHT1
Feature Type
protein coding gene
Genetic Map
Chromosome 17
28.23 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr17:54273594-54299034 bp, - strand
From Ensembl annotation of GRCm38

  25441 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32516  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Gene Tree: Slc5a7

Human
homologs
Human Homolog SLC5A7, solute carrier family 5 (sodium/choline cotransporter), member 7
NCBI Gene ID 60482
neXtProt AC  NX_Q9GZV3
Human Synonyms  CHT, CHT1, hCHT, HMN7A
Human Chr (Location)  2q12; chr2:107986539-108013983 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SLC5A7
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice display neonatal lethality with respiratory failure, hyporesponsiveness to touch, inability to sustain acetylcholine release, and abnormal neuromuscular junction morphology.
 
Interactions
Slc5a7 interacts with 341 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process acetylcholine biosynthetic process, cation transmembrane transport, ...
Component integral component of membrane, membrane, ...
Function choline binding, choline:sodium symporter activity, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (126)    Tissues (54)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 43
Western blot 35
RT-PCR 48
cDNA source data(8)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(10) cDNA(8) Primer pair(2)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000023945 (Evidence)
Entrez Gene63993 (Evidence)
UniGene155241
DFCITC1587528
DoTSDT.91336381, DT.101315234
NIA Mouse Gene IndexU037926
Consensus CDS ProjectCCDS28885.1
International Mouse Knockout Project StatusSlc5a7
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000023945 Ensembl Gene Model | MGI Sequence Detail 25441 C57BL/6J ±  kb
transcript ENSMUST00000095712 Ensembl | MGI Sequence Detail 5176 Not Applicable 
polypeptide ENSMUSP00000093379 Ensembl | MGI Sequence Detail 580 Not Applicable 

For the selected sequences
All sequences(25) RefSeq(8) UniProt(3)
Polymorphisms
SNPs within 2kb(328 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001734 Sodium/solute symporter
Protein Ontology PR:000015173 high affinity choline transporter 1
References
(Earliest) J:69663 Wang Y, et al., Molecular cloning of a cDNA for a putative choline co-transporter from Limulus CNS. Gene. 2001 May 2;268(1-2):123-31
(Latest) J:213234 Cho HH, et al., Isl1 directly controls a cholinergic neuronal identity in the developing forebrain and spinal cord by forming cell type-specific complexes. PLoS Genet. 2014 Apr;10(4):e1004280
All references(49)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory