Cell atlas - SLC5A7 - The Human Protein Atlas

GENERAL INFORMATION
Gene name	SLC5A7
Gene description	Solute carrier family 5 (sodium/choline cotransporter), member 7
Protein class	Disease related genes Potential drug targets Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the intermediate filaments & cell junctions. In addition localized to the nuclear bodies.
RNA cell category	Group enriched (RT4, SCLC-21H)
Protein evidence	Evidence at protein level
Main location	Localized to the Cell Junctions (approved), Intermediate filaments (approved)
Additional location	In addition localized to the Nuclear bodies (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA046105
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ASSAYS

RNA expression

Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (RT4, SCLC-21H) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the intermediate filaments & cell junctions. In addition localized to the nuclear bodies.

Main location

Cell Junctions (approved), Intermediate filaments (approved)

Additional location

Nuclear bodies (approved)


	Toggle channels	Low High G1 S G2 M N/A

Antibody	Cell line	Location
HPA046105	RT4	Nuclear bodies
		Cell Junctions
		Intermediate filaments

GENE INFORMATION
Gene name	SLC5A7 (HGNC Symbol)
Synonyms	CHT1, hCHT
Description	Solute carrier family 5 (sodium/choline cotransporter), member 7 (HGNC Symbol)
Entrez gene summary	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]
Chromosome	2
Cytoband	q12.3
Chromosome location (bp)	107986523 - 108013994
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000115665 (version 83.38)
Entrez gene	60482
UniProt	Q9GZV3 (UniProt - Evidence at protein level)
neXtProt	NX_Q9GZV3
Antibodypedia	SLC5A7 antibodies

PROTEIN BROWSER

SLC5A7-001	SLC5A7-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SLC5A7-001 ENSP00000264047 ENST00000264047	Q9GZV3 [Direct mapping] High affinity choline transporter 1 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0005215 [transporter activity] GO:0005307 [choline:sodium symporter activity] GO:0005515 [protein binding] GO:0005769 [early endosome] GO:0005886 [plasma membrane] GO:0006810 [transport] GO:0006814 [sodium ion transport] GO:0007268 [synaptic transmission] GO:0007269 [neurotransmitter secretion] GO:0007271 [synaptic transmission, cholinergic] GO:0007274 [neuromuscular synaptic transmission] GO:0008021 [synaptic vesicle] GO:0008292 [acetylcholine biosynthetic process] GO:0015220 [choline transmembrane transporter activity] GO:0015871 [choline transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016324 [apical plasma membrane] GO:0030424 [axon] GO:0030425 [dendrite] GO:0033265 [choline binding] GO:0043025 [neuronal cell body] GO:0043204 [perikaryon] GO:0044853 [plasma membrane raft] GO:0045202 [synapse] GO:0045334 [clathrin-coated endocytic vesicle] GO:0055085 [transmembrane transport] Show all	580 aa 63.2 kDa	No	>9
SLC5A7-002 ENSP00000387346 ENST00000409059	Q9GZV3 [Direct mapping] High affinity choline transporter 1 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0005215 [transporter activity] GO:0005307 [choline:sodium symporter activity] GO:0005886 [plasma membrane] GO:0006810 [transport] GO:0006814 [sodium ion transport] GO:0007268 [synaptic transmission] GO:0007269 [neurotransmitter secretion] GO:0008292 [acetylcholine biosynthetic process] GO:0015220 [choline transmembrane transporter activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] Show all	580 aa 63.2 kDa	No	>9