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FLASH GENE
Symbol SLC5A7 contributors: mct - updated : 12-01-2013
HGNC name solute carrier family 5 (choline transporter), member 7
HGNC id 14025
Corresponding disease
CMS20 congenital myasthenic syndrome, 20
DHMN7A distal hereditary motor neuronopathy, type 7
Location 2q12.3      Physical location : 108.602.994 - 108.630.439
Synonym name
  • high affinity choline transporter1, hemicholinium-3-sensitive choline transporter
  • hemicholinium-3-sensitive choline transporter
  • high-affinity choline transporter 1
  • Synonym symbol(s) CHT, CHT1
    DNA
    TYPE functioning gene
    STRUCTURE 27.44 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    NCK2 2q12 NCK adaptor protein 2 ECRG4 2q12.2 esophageal cancer related gene 4 protein UXS1 2q12.1 UDP-glucuronate decarboxylase 1 LOC391415 2 similar to ribosomal protein S21; 40S ribosomal protein S21 LOC391416 2 similar to hypothetical protein MGC4614 LOC389016 2 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 LOC391417 2 similar to anaphase-promoting complex 1 (meiotic checkpoint regulator) CD8B2 2q12 CD8 antigen, beta polypeptide 2, pseudogene (p37) LOC389017 2 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) LOC389018 2 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) ST6GalII 2q11.2-q12.1 beta-galactoside alpha-2,6-sialyltransferase II LOC339819 2q12.3 similar to protein phosphatase 1, regulatory (inhibitor) subunit 2 DKFZp686P0288 2q12.3 similar to Ran-binding protein 2 SLC5A7 2q12 solute carrier family 5 (choline transporter), member 7 LOC391418 2 similar to phenol sulfotransferase SULT1C1 2q11.1-q11.2 sulfotransferase family, cytosolic, 1C, member 1 LOC391419 2 similar to sulfotransferase 1C SULT1C2 2q11.2 sulfotransferase family, cytosolic, 1C, member 2 GCC2 2q12-q13 GRIP and coiled-coil domain-containing 2 MGC10701 2q12.3 hypothetical protein MGC10701 LIMS1 2q12 LIM and senescent cell antigen-like domains 1 LOC391420 2 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) RANBP2 2q11-q13 RAN binding protein 2 FLJ32745 2q12.3 hypothetical protein FLJ32745 EDAR 2q11-q13 ectodysplasin 1, anhidrotic receptor LOC389019 2 LOC389019 FLJ20019 2q13 hypothetical protein FLJ20019 FLJ00204 2q13 FLJ00204 protein SEPT10 2q13 septin 10 FLJ21870 2q13 hypothetical protein FLJ21870 LOC391421 2 similar to Ribosome biogenesis protein BMS1 homolog LOC391422 2 similar to ribosomal protein L22 RANBP2L1 2q12.3 RAN binding protein 2-like 1 LOC339692 2q13 hypothetical protein LOC339692 GPAA1P1 2q12-q14 glycosylphosphatidylinositol anchor attachment 1 pseudogene 1 LOC391423 2 similar to zinc finger protein 499 LOC343938 2q13 similar to zinc finger protein BENE 2q13 BENE protein NPHP1 2q12-q13 nephronophthisis 1 (juvenile)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 5158 - 580 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    nervousbrainbasal nucleiputamen  
    Nervousbrainhindbrainmedulla oblongata  
     brain   specific Homo sapiens
     spinal cordanterior horn    Homo sapiens
    Skin/Tegumentskin     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervouscholinergic neuron Homo sapiens
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to rattus Cht1
    ortholog to murine Slc5a7
    homolog to drosophila CG7708
    ortholog to C.elegans cho-1
    intraspecies homolog to SGLT
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • predominantly localized to the epithelial cell membranes, in case of ciliated tracheal cells it was restricted to the apical membrane
  • basic FUNCTION
  • expressed in cholinergic neurons and efficiently transported to axon terminals where it controls the rate-limiting step in acetylcholine synthesis
  • is present in central cholinergic neurons and cholinergic neurotransmission is important for cognitive and behavioral functions
  • critical determinant of synaptic acetylcholine (ACh) synthesis and release at the neuromuscular junction (NMJ)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text choline transporter
    PATHWAY
    metabolism other
    signaling
    acetylcholine biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NEDD4L mediated ubiquitination regulates the cell surface expression of SLC5A7
  • cell & other
    REGULATION
    Other overexpressed CHAT enhanced transcription of the SLC5A7 gene
    ASSOCIATED DISORDERS
    corresponding disease(s) DHMN7A , CMS20
    Susceptibility to heart rate variability
    Variant & Polymorphism other heart rate variability is associated with polymorphic variation in SLC5A7
    Candidate gene
  • SLC5A7 or its regulation should be considered as a potential contributor to idiopathic motor neuronopathies
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    drugs which inhibit the interaction between SLC5A7 and NEDD4L might be useful for diseases involving decrease in acetylcholine level such as Alzheimer disease
    ANIMAL & CELL MODELS
    Slc5a7-knockout mice display early postnatal paralysis, cyanosis, and lethality