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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
Location & Maps
more
  • Sequence Map
    Chr17:54273594-54299034 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25441 bp   ±  kb flank

  • Genome Browsers
Homology
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  • Human Ortholog
    SLC5A7, solute carrier family 5 (sodium/choline cotransporter), member 7
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SLC5A7, solute carrier family 5 (sodium/choline cotransporter), member 7
    Orthology source: HomoloGene
  • Synonyms
    CHT, CHT1, HMN7A
  • Links
    NCBI Gene ID: 60482
    neXtProt AC: NX_Q9GZV3

  • Chr Location
    2q12; chr2:107986487-108014207 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SLC5A7 associations

Human Disease Mouse Models
       Neuronopathy, Distal Hereditary Motor, Type Viia; HMN7A   OMIM: 158580
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 2 alleles in 3 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    328 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000015173 high affinity choline transporter 1
  • InterPro Domains
    IPR001734 Sodium/solute symporter
Molecular
Reagents
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  • All nucleic 10
    cDNA 8
    Primer pair 2

    Microarray probesets 2
References
more
  • Summaries
    All 45
    Developmental Gene Expression 8
    Gene Ontology 9
    Phenotypes 11
  • Earliest
    J:78624 Guermonprez L, et al., The neuronal choline transporter CHT1 is regulated by immunosuppressor-sensitive pathways. J Neurochem. 2002 Aug;82(4):874-84
  • 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

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
02/02/2016
MGI 6.02
The Jackson Laboratory