Description: Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. RefSeq Summary (NM_021815): This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. Transcript (Including UTRs) Position: hg19 chr2:108,602,995-108,630,443 Size: 27,449 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr2:108,622,505-108,627,317 Size: 4,813 Coding Exon Count: 3
ID:SC5A7_HUMAN DESCRIPTION: RecName: Full=High affinity choline transporter 1; AltName: Full=Hemicholinium-3-sensitive choline transporter; Short=CHT; AltName: Full=Solute carrier family 5 member 7; FUNCTION: Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion- dependent. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons. PTM: Phosphorylated (By similarity). MISCELLANEOUS: Specifically inhibited by nanomolar concentrations of hemicholinium 3. SIMILARITY: Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SLC5A7 CDC HuGE Published Literature: SLC5A7 Positive Disease Associations: heart rate
, Tunica Media Related Studies:
heart rate Neumann, S. A. et al. 2005, Heart rate variability is associated with polymorphic variation in the choline transporter gene., Psychosomatic medicine. 2005 Mar-Apr;67(2):168-71.
[PubMed 15784779]
These findings show that polymorphic variation in the CHT1 gene is associated significantly with interindividual variability in HRV indices related to parasympathetic (cholinergic) activity.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00474 - Sodium:solute symporter family
ModBase Predicted Comparative 3D Structure on Q9GZV3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006814 sodium ion transport GO:0007269 neurotransmitter secretion GO:0007271 synaptic transmission, cholinergic GO:0007274 neuromuscular synaptic transmission GO:0008292 acetylcholine biosynthetic process GO:0015871 choline transport GO:0042136 neurotransmitter biosynthetic process GO:0055085 transmembrane transport
KJ894492 - Synthetic construct Homo sapiens clone ccsbBroadEn_03886 SLC5A7 gene, encodes complete protein. KJ903031 - Synthetic construct Homo sapiens clone ccsbBroadEn_12425 SLC5A7 gene, encodes complete protein. KR711539 - Synthetic construct Homo sapiens clone CCSBHm_00025881 SLC5A7 (SLC5A7) mRNA, encodes complete protein. AK315280 - Homo sapiens cDNA, FLJ96292, highly similar to Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. AB084377 - Homo sapiens mRNA for high-affinity choline transporter CHT1, 5'UTR. AK300801 - Homo sapiens cDNA FLJ51317 complete cds, highly similar to High-affinity choline transporter 1. AB043997 - Homo sapiens mRNA for high-affinity choline transporter CHT1, complete cds. BC111525 - Homo sapiens solute carrier family 5 (choline transporter), member 7, mRNA (cDNA clone MGC:126300 IMAGE:40034618), complete cds. JD323224 - Sequence 304248 from Patent EP1572962. BC111524 - Homo sapiens solute carrier family 5 (choline transporter), member 7, mRNA (cDNA clone MGC:126299 IMAGE:40034612), complete cds. JD538026 - Sequence 519050 from Patent EP1572962. JD298539 - Sequence 279563 from Patent EP1572962. JD121295 - Sequence 102319 from Patent EP1572962. JD225153 - Sequence 206177 from Patent EP1572962. JD062168 - Sequence 43192 from Patent EP1572962. AJ401466 - Homo sapiens mRNA for high affinity choline transporter (CHT1 gene). AF276871 - Homo sapiens high affinity choline transporter (SLC5A7) mRNA, complete cds. JD204031 - Sequence 185055 from Patent EP1572962. JD375765 - Sequence 356789 from Patent EP1572962. JD491150 - Sequence 472174 from Patent EP1572962. JD038552 - Sequence 19576 from Patent EP1572962. JD515705 - Sequence 496729 from Patent EP1572962. JD284395 - Sequence 265419 from Patent EP1572962. JD197394 - Sequence 178418 from Patent EP1572962. JD110425 - Sequence 91449 from Patent EP1572962. JD046633 - Sequence 27657 from Patent EP1572962. JD512040 - Sequence 493064 from Patent EP1572962. JD491053 - Sequence 472077 from Patent EP1572962. JD078369 - Sequence 59393 from Patent EP1572962. JD337143 - Sequence 318167 from Patent EP1572962. JD302439 - Sequence 283463 from Patent EP1572962. JD053343 - Sequence 34367 from Patent EP1572962. JD298656 - Sequence 279680 from Patent EP1572962. JD378807 - Sequence 359831 from Patent EP1572962. JD383233 - Sequence 364257 from Patent EP1572962. JD516551 - Sequence 497575 from Patent EP1572962. JD512398 - Sequence 493422 from Patent EP1572962. JD327745 - Sequence 308769 from Patent EP1572962. JD345414 - Sequence 326438 from Patent EP1572962. JD224923 - Sequence 205947 from Patent EP1572962. JD329569 - Sequence 310593 from Patent EP1572962. JD263439 - Sequence 244463 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9GZV3 (Reactome details) participates in the following event(s):
R-HSA-429594 SLC5A7 cotransports Cho, Cl-, Na+ from extracellular region to cytosol R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-425428 Amine compound SLC transporters R-HSA-112310 Neurotransmitter release cycle R-HSA-425407 SLC-mediated transmembrane transport R-HSA-112315 Transmission across Chemical Synapses R-HSA-382551 Transport of small molecules R-HSA-112316 Neuronal System