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Slc5a7 Gene Detail
Summary
  • Symbol
    Slc5a7
  • Name
    solute carrier family 5 (choline transporter), member 7
  • Synonyms
    CHT1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927126
    NCBI Gene: 63993
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:54580618-54606062 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 28.23 cM, cytoband D
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1068 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927126
 protein coding gene Chr17:54580618-54606071 (-)
129S1/SvImJ ENSMUSG00200025588
 protein coding gene Chr17:49807592-49832773 (-)
A/J ENSMUSG00195006868
 protein coding gene Chr17:51241695-51267167 (-)
AKR/J ENSMUSG00220034422
 protein coding gene Chr17:50258319-50283489 (-)
BALB/cJ ENSMUSG00180005942
 protein coding gene Chr17:50997786-51023256 (-)
C3H/HeJ ENSMUSG00175007281
 protein coding gene Chr17:50304955-50330432 (-)
C57BL/6NJ ENSMUSG00215017377
 protein coding gene Chr17:49928967-49954419 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021746
 protein coding gene Chr17:50850122-50871319 (-)
CAST/EiJ ENSTCUG00005018439
 protein coding gene Chr17:51084162-51109587 (-)
CBA/J ENSMUSG00210030059
 protein coding gene Chr17:50085175-50110644 (-)
DBA/2J ENSMUSG00185008073
 protein coding gene Chr17:52955061-52980544 (-)
FVB/NJ ENSMUSG00205007086
 protein coding gene Chr17:50612559-50637736 (-)
JF1/MsJ ENSUMUG00000027639
 protein coding gene Chr17:52692289-52717907 (-)
LP/J ENSMUSG00230026782
 protein coding gene Chr17:53895801-53920975 (-)
NOD/ShiLtJ ENSMUSG00190016616
 protein coding gene Chr17:50059692-50085128 (-)
NZO/HlLtJ ENSMUSG00225041600
 protein coding gene Chr17:56188955-56214389 (-)
PWK/PhJ ENSLUMG00010031003
 protein coding gene Chr17:49905369-49930924 (-)
SPRET/EiJ ENSMSPG00010034645
 protein coding gene Chr17:50147665-50170435 (-)
WSB/EiJ ENSIUOG00005022983
 protein coding gene Chr17:50977658-51002912 (-)



Homology
more
  • Human Ortholog
    SLC5A7, solute carrier family 5 member 7
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC5A7, solute carrier family 5 member 7
  • Synonyms
    CHT, CHT1, CMS20, DHMNVP, hCHT1, HMN7A, HMND7
  • Links
    NCBI Gene ID: 60482
    UniProt: Q9GZV3

  • Chr Location
    2q12.3; chr2:107986523-108013994 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human SLC5A7 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 3 alleles in 3 genetic backgrounds
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice display neonatal lethality with respiratory failure, hyporesponsiveness to touch, inability to sustain acetylcholine release, and abnormal neuromuscular junction morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    75
  • GO References
    15
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    735
  • Tissues
    55
  • cDNA Data
    9
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000023945 Ensembl Gene Model | MGI Sequence Detail 25445 C57BL/6J ±  kb
    transcript ENSMUST00000095712 Ensembl | MGI Sequence Detail 5180 Not Applicable  
    polypeptide ENSMUSP00000093379 Ensembl | MGI Sequence Detail 580 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 9
      Primer pair 3
      Antibodies 2

      Microarray probesets 2
    References
    more
    • Summaries
      All 79
      Developmental Gene Expression 16
      Gene Ontology 15
      Phenotypes 21
    • 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:376292 Liu Y, et al., Bltp1 Is Required for Survival and Normal Development and Function of the Neuromuscular Junction in Mice. J Neurosci. 2025 Oct 29;45(44)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory