SLC5A7

Functionⁱ

Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.2 Publications

Miscellaneous

Specifically inhibited by nanomolar concentrations of hemicholinium 3.

GO - Molecular functionⁱ

choline:sodium symporter activity
Source: MGI
Inferred from mutant phenotypeⁱ
- 12237312
choline binding Source: GO_Central
choline transmembrane transporter activity
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 11068039

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

acetylcholine biosynthetic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 11068039
neuromuscular synaptic transmission Source: GO_Central
neurotransmitter secretion Source: Reactome
synaptic transmission, cholinergic Source: GO_Central
transmembrane transport Source: Reactome

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Ion transport, Neurotransmitter biosynthesis, Sodium transport, Symport, Transport
Ligand	Sodium

Enzyme and pathway databases

Reactomeⁱ	R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-5619114 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) R-HSA-5658471 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)

Reactomeⁱ

R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-5619114 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
R-HSA-5658471 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)

Protein family/group databases

TCDBⁱ	2.A.21.8.2 the solute:sodium symporter (sss) family

TCDBⁱ

2.A.21.8.2 the solute:sodium symporter (sss) family

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: High affinity choline transporter 1 Alternative name(s): Hemicholinium-3-sensitive choline transporter Short name: CHT Solute carrier family 5 member 7
Gene namesⁱ	Name:SLC5A7 Synonyms:CHT1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000115665.8
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:14025 SLC5A7
MIMⁱ	608761 gene
neXtProtⁱ	NX_Q9GZV3

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 6	ExtracellularSequence analysis	6
Transmembraneⁱ	7 – 27	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	28 – 48	CytoplasmicSequence analysisAdd BLAST	21
Transmembraneⁱ	49 – 69	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	70 – 81	ExtracellularSequence analysisAdd BLAST	12
Transmembraneⁱ	82 – 102	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	103 – 125	CytoplasmicSequence analysisAdd BLAST	23
Transmembraneⁱ	126 – 146	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	147 – 164	ExtracellularSequence analysisAdd BLAST	18
Transmembraneⁱ	165 – 185	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	186 – 191	CytoplasmicSequence analysis	6
Transmembraneⁱ	192 – 212	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	213 – 237	ExtracellularSequence analysisAdd BLAST	25
Transmembraneⁱ	238 – 258	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	259 – 274	CytoplasmicSequence analysisAdd BLAST	16
Transmembraneⁱ	275 – 295	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	296 – 317	ExtracellularSequence analysisAdd BLAST	22
Transmembraneⁱ	318 – 338	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	339 – 376	CytoplasmicSequence analysisAdd BLAST	38
Transmembraneⁱ	377 – 397	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	398 – 406	ExtracellularSequence analysis	9
Transmembraneⁱ	407 – 427	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	428 – 435	CytoplasmicSequence analysis	8
Transmembraneⁱ	436 – 456	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	457 – 481	ExtracellularSequence analysisAdd BLAST	25
Transmembraneⁱ	482 – 502	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	503 – 580	CytoplasmicSequence analysisAdd BLAST	78

Keywords - Cellular componentⁱ

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Neuronopathy, distal hereditary motor, 7A (HMN7A)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN7A is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve.

Myasthenic syndrome, congenital, 20, presynaptic (CMS20)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS20 is an autosomal recessive, pre-synaptic form characterized by severe hypotonia and episodic apnea soon after birth, generalized limb fatigability and weakness, delayed walking, ptosis, poor sucking and swallowing.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	89	I → A: Only 20% of wild-type choline uptake activity. 1 Publication		1
Mutagenesisⁱ	451	E → Q: Only 5% of wild-type choline uptake activity. 1 Publication		1

Keywords - Diseaseⁱ

Congenital myasthenic syndrome, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET More...DisGeNETⁱ	60482
MalaCards human disease database More...MalaCardsⁱ	SLC5A7
MIMⁱ	158580 phenotype 617143 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000115665
Orphanetⁱ	139589 Distal hereditary motor neuropathy type 7
PharmGKBⁱ	PA37838

Chemistry databases

ChEMBLⁱ	CHEMBL4507
Drug and drug target database More...DrugBankⁱ	DB00122 Choline
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	914

Polymorphism and mutation databases

BioMutaⁱ	SLC5A7
DMDMⁱ	56404957

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000105391	1 – 580	High affinity choline transporter 1Add BLAST		580

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Glycosylationⁱ	301	N-linked (GlcNAc...) asparagineSequence analysis		1

Post-translational modificationⁱ

Phosphorylated.By similarity

Keywords - PTMⁱ

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbⁱ	Q9GZV3
PeptideAtlas More...PeptideAtlasⁱ	Q9GZV3
PRIDEⁱ	Q9GZV3
ProteomicsDBⁱ	80155

PTM databases

iPTMnetⁱ	Q9GZV3
PhosphoSitePlusⁱ	Q9GZV3

Expressionⁱ

Tissue specificityⁱ

Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons.

Gene expression databases

Bgeeⁱ	ENSG00000115665 Expressed in 55 organ(s), highest expression level in muscle layer of sigmoid colon
CleanExⁱ	HS_SLC5A7
Genevisibleⁱ	Q9GZV3 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA046105

HPAⁱ

HPA046105

Interactionⁱ

Subunit structureⁱ

Protein-protein interaction databases

BioGridⁱ	121915, 3 interactors
STRINGⁱ	9606.ENSP00000264047

Chemistry databases

BindingDBⁱ	Q9GZV3

BindingDBⁱ

Q9GZV3

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9GZV3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	502 – 580	Mediates interaction with SEC14L1By similarityAdd BLAST		79

Sequence similaritiesⁱ

Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. [View classification]Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3761 Eukaryota COG0591 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00690000101915
HOGENOMⁱ	HOG000016386
HOVERGENⁱ	HBG054160
InParanoidⁱ	Q9GZV3
KEGG Orthology (KO) More...KOⁱ	K14387
OMAⁱ	YTWLDSF
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G050W
PhylomeDBⁱ	Q9GZV3
TreeFamⁱ	TF314588

Family and domain databases

Gene3Dⁱ	1.20.1730.10, 1 hit
InterProⁱ	View protein in InterPro IPR038377 Na/Glc_symporter_sf IPR001734 Na/solute_symporter
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00474 SSF, 1 hit
PROSITEⁱ	View protein in PROSITE PS50283 NA_SOLUT_SYMP_3, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q9GZV3-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MAFHVEGLIA IIVFYLLILL VGIWAAWRTK NSGSAEERSE AIIVGGRDIG 
        60         70         80         90        100
LLVGGFTMTA TWVGGGYING TAEAVYVPGY GLAWAQAPIG YSLSLILGGL 
       110        120        130        140        150
FFAKPMRSKG YVTMLDPFQQ IYGKRMGGLL FIPALMGEMF WAAAIFSALG 
       160        170        180        190        200
ATISVIIDVD MHISVIISAL IATLYTLVGG LYSVAYTDVV QLFCIFVGLW 
       210        220        230        240        250
ISVPFALSHP AVADIGFTAV HAKYQKPWLG TVDSSEVYSW LDSFLLLMLG 
       260        270        280        290        300
GIPWQAYFQR VLSSSSATYA QVLSFLAAFG CLVMAIPAIL IGAIGASTDW 
       310        320        330        340        350
NQTAYGLPDP KTTEEADMIL PIVLQYLCPV YISFFGLGAV SAAVMSSADS 
       360        370        380        390        400
SILSASSMFA RNIYQLSFRQ NASDKEIVWV MRITVFVFGA SATAMALLTK 
       410        420        430        440        450
TVYGLWYLSS DLVYIVIFPQ LLCVLFVKGT NTYGAVAGYV SGLFLRITGG 
       460        470        480        490        500
EPYLYLQPLI FYPGYYPDDN GIYNQKFPFK TLAMVTSFLT NICISYLAKY 
       510        520        530        540        550
LFESGTLPPK LDVFDAVVAR HSEENMDKTI LVKNENIKLD ELALVKPRQS 
       560        570        580
MTLSSTFTNK EAFLDVDSSP EGSGTEDNLQ

Length:580

Mass (Da):63,204

Last modified:March 1, 2001 - v1

Checksum:ⁱ66CB35496CB6E2D6

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_077854	48	D → G in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs886039768EnsemblClinVar.	1
Natural variantⁱVAR_077855	65	G → E in CMS20; loss of choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs886039765EnsemblClinVar.	1
Natural variantⁱVAR_020524	89	I → V 40% reduction in choline uptake rate; found in 0.06 of Ashkenazi Jews. 1 PublicationCorresponds to variant dbSNP:rs1013940EnsemblClinVar.	1
Natural variantⁱVAR_077856	105	P → S in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs886039766EnsemblClinVar.	1
Natural variantⁱVAR_077857	111	Y → H in CMS20; no effect on localization at plasma membrane. 1 Publication	1
Natural variantⁱVAR_077858	175	Y → C in CMS20; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_077859	291	I → T in CMS20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375397889Ensembl.	1
Natural variantⁱVAR_077860	344	V → L in CMS20; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_077861	361	R → Q in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs147656110EnsemblClinVar.	1
Natural variantⁱVAR_077862	418	F → V in CMS20; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_077863	446	R → G in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 Publication	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF276871 mRNA Translation: AAG25940.1 AB043997 mRNA Translation: BAB18161.1 AJ401466 mRNA Translation: CAC03717.1 AJ308378 AJ308384 Genomic DNA Translation: CAC88115.1 AC009963 Genomic DNA Translation: AAY14927.1 BC111525 mRNA Translation: AAI11526.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS2074.1
PIRⁱ	JC7502
NCBI Reference Sequences More...RefSeqⁱ	NP_001291934.1, NM_001305005.2 NP_068587.1, NM_021815.4
UniGeneⁱ	Hs.287758

Genome annotation databases

Ensemblⁱ	ENST00000264047; ENSP00000264047; ENSG00000115665 ENST00000409059; ENSP00000387346; ENSG00000115665
GeneIDⁱ	60482
KEGGⁱ	hsa:60482
UCSC genome browser More...UCSCⁱ	uc002tdv.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9GZV3	SLC5A7 protein		HUMAN		333	UniRef100_Q9GZV3
UPI0002065A17		HUMAN		475

Protein	Similar proteins		Species	Score	Length	Source
Q9GZV3	High affinity choline transporter 1		MOUSE		580	UniRef90_Q9GZV3
High affinity choline transporter 1		RAT		580
SLC5A7 protein		HUMAN		333
high affinity choline transporter 1		TARSY		605
SLC5A7 isoform 1		PANTR		580
+122

Protein	Similar proteins		Species	Score	Length	Source
Q9GZV3	High affinity choline transporter 1		MOUSE		580	UniRef50_Q9GZV3
High affinity choline transporter 1		RAT		580
SLC5A7 protein		HUMAN		333
high affinity choline transporter 1		TARSY		605
High affinity choline transporter 1		CALJA		580
+178

Entry informationⁱ

Entry nameⁱ	SC5A7_HUMAN
Accessionⁱ	Q9GZV3Primary (citable) accession number: Q9GZV3 Secondary accession number(s): Q53TF2
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 7, 2004
	Last sequence update:	March 1, 2001
	Last modified:	September 12, 2018
	This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9GZV3 (SC5A7_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

High affinity choline transporter 1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Other locations

Plasma Membrane

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ