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UniProtKB - Q9GZV3 (SC5A7_HUMAN)

Entry version 150 (12 Aug 2020)
Sequence version 1 (01 Mar 2001)
Previous versions | rss
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Protein

High affinity choline transporter 1

Gene

SLC5A7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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.

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processIon transport, Neurotransmitter biosynthesis, Sodium transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9GZV3

Reactome - a knowledgebase of biological pathways and processes

More...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

Transport Classification Database

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

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC5A7
Synonyms:CHT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000115665.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:14025, SLC5A7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608761, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9GZV3

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 6ExtracellularSequence analysis6
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei7 – 27HelicalSequence analysisAdd BLAST21
Topological domaini28 – 48CytoplasmicSequence analysisAdd BLAST21
Transmembranei49 – 69HelicalSequence analysisAdd BLAST21
Topological domaini70 – 81ExtracellularSequence analysisAdd BLAST12
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 125CytoplasmicSequence analysisAdd BLAST23
Transmembranei126 – 146HelicalSequence analysisAdd BLAST21
Topological domaini147 – 164ExtracellularSequence analysisAdd BLAST18
Transmembranei165 – 185HelicalSequence analysisAdd BLAST21
Topological domaini186 – 191CytoplasmicSequence analysis6
Transmembranei192 – 212HelicalSequence analysisAdd BLAST21
Topological domaini213 – 237ExtracellularSequence analysisAdd BLAST25
Transmembranei238 – 258HelicalSequence analysisAdd BLAST21
Topological domaini259 – 274CytoplasmicSequence analysisAdd BLAST16
Transmembranei275 – 295HelicalSequence analysisAdd BLAST21
Topological domaini296 – 317ExtracellularSequence analysisAdd BLAST22
Transmembranei318 – 338HelicalSequence analysisAdd BLAST21
Topological domaini339 – 376CytoplasmicSequence analysisAdd BLAST38
Transmembranei377 – 397HelicalSequence analysisAdd BLAST21
Topological domaini398 – 406ExtracellularSequence analysis9
Transmembranei407 – 427HelicalSequence analysisAdd BLAST21
Topological domaini428 – 435CytoplasmicSequence analysis8
Transmembranei436 – 456HelicalSequence analysisAdd BLAST21
Topological domaini457 – 481ExtracellularSequence analysisAdd BLAST25
Transmembranei482 – 502HelicalSequence analysisAdd BLAST21
Topological domaini503 – 580CytoplasmicSequence analysisAdd BLAST78

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07785448D → G in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs886039768EnsemblClinVar.1
Natural variantiVAR_07785565G → 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_077856105P → S in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs886039766EnsemblClinVar.1
Natural variantiVAR_077857111Y → H in CMS20; no effect on localization at plasma membrane. 1 Publication1
Natural variantiVAR_077858175Y → C in CMS20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1331713195Ensembl.1
Natural variantiVAR_077859291I → T in CMS20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375397889Ensembl.1
Natural variantiVAR_077860344V → L in CMS20; unknown pathological significance. 1 Publication1
Natural variantiVAR_077861361R → Q in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs147656110EnsemblClinVar.1
Natural variantiVAR_077862418F → V in CMS20; unknown pathological significance. 1 Publication1
Natural variantiVAR_077863446R → G in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi89I → A: Only 20% of wild-type choline uptake activity. 1 Publication1
Mutagenesisi451E → Q: Only 5% of wild-type choline uptake activity. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...DisGeNETi		60482

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SLC5A7

MalaCards human disease database

More...MalaCardsi		SLC5A7
MIMi158580, phenotype
617143, phenotype

Open Targets

More...OpenTargetsi		ENSG00000115665

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		139589, Distal hereditary motor neuropathy type 7
98914, Presynaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37838

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9GZV3, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4507

Drug and drug target database

More...DrugBanki		DB00122, Choline
DB14006, Choline salicylate

DrugCentral

More...DrugCentrali		Q9GZV3

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		914

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC5A7

Domain mapping of disease mutations (DMDM)

More...DMDMi		56404957

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001053911 – 580High affinity choline transporter 1Add BLAST580

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi301N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9GZV3

PeptideAtlas

More...PeptideAtlasi		Q9GZV3

PRoteomics IDEntifications database

More...PRIDEi		Q9GZV3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80155

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9GZV3, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9GZV3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9GZV3

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000115665, Expressed in muscle layer of sigmoid colon and 78 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9GZV3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000115665, Tissue enriched (brain)

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomerizes at cell surface (PubMed:23132865).

Interacts with SEC14L1; may regulate SLC5A7 (PubMed:17092608).

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121915, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000264047

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9GZV3

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9GZV3, protein

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni502 – 580Mediates interaction with SEC14L1By similarityAdd BLAST79

<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

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3761, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00690000101915

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_018808_10_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9GZV3

KEGG Orthology (KO)

More...KOi		K14387

Identification of Orthologs from Complete Genome Data

More...OMAi		HSKEIMD

Database of Orthologous Groups

More...OrthoDBi		799628at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9GZV3

TreeFam database of animal gene trees

More...TreeFami		TF314588

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1730.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50283, NA_SOLUT_SYMP_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q9GZV3-1 [UniParc]FASTAAdd 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i66CB35496CB6E2D6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07785448D → G in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs886039768EnsemblClinVar.1
Natural variantiVAR_07785565G → 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_02052489I → V 40% reduction in choline uptake rate; found in 0.06 of Ashkenazi Jews. 1 PublicationCorresponds to variant dbSNP:rs1013940EnsemblClinVar.1
Natural variantiVAR_077856105P → S in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs886039766EnsemblClinVar.1
Natural variantiVAR_077857111Y → H in CMS20; no effect on localization at plasma membrane. 1 Publication1
Natural variantiVAR_077858175Y → C in CMS20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1331713195Ensembl.1
Natural variantiVAR_077859291I → T in CMS20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375397889Ensembl.1
Natural variantiVAR_077860344V → L in CMS20; unknown pathological significance. 1 Publication1
Natural variantiVAR_077861361R → Q in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs147656110EnsemblClinVar.1
Natural variantiVAR_077862418F → V in CMS20; unknown pathological significance. 1 Publication1
Natural variantiVAR_077863446R → G in CMS20; decreased choline transmembrane transporter activity; no effect on localization at plasma membrane. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

Protein sequence database of the Protein Information Resource

More...PIRi		JC7502

NCBI Reference Sequences

More...RefSeqi		NP_001291934.1, NM_001305005.2
NP_068587.1, NM_021815.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000264047; ENSP00000264047; ENSG00000115665
ENST00000409059; ENSP00000387346; ENSG00000115665

Database of genes from NCBI RefSeq genomes

More...GeneIDi		60482

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:60482

UCSC genome browser

More...UCSCi		uc002tdv.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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
CCDSiCCDS2074.1
PIRiJC7502
RefSeqiNP_001291934.1, NM_001305005.2
NP_068587.1, NM_021815.4

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi121915, 4 interactors
STRINGi9606.ENSP00000264047

Chemistry databases

BindingDBiQ9GZV3
ChEMBLiCHEMBL4507
DrugBankiDB00122, Choline
DB14006, Choline salicylate
DrugCentraliQ9GZV3
GuidetoPHARMACOLOGYi914

Protein family/group databases

TCDBi2.A.21.8.2, the solute:sodium symporter (sss) family

PTM databases

GlyGeniQ9GZV3, 1 site
iPTMnetiQ9GZV3
PhosphoSitePlusiQ9GZV3

Polymorphism and mutation databases

BioMutaiSLC5A7
DMDMi56404957

Proteomic databases

PaxDbiQ9GZV3
PeptideAtlasiQ9GZV3
PRIDEiQ9GZV3
ProteomicsDBi80155

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33052, 80 antibodies

Genome annotation databases

EnsembliENST00000264047; ENSP00000264047; ENSG00000115665
ENST00000409059; ENSP00000387346; ENSG00000115665
GeneIDi60482
KEGGihsa:60482
UCSCiuc002tdv.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		60482
DisGeNETi60482
EuPathDBiHostDB:ENSG00000115665.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC5A7
GeneReviewsiSLC5A7
HGNCiHGNC:14025, SLC5A7
HPAiENSG00000115665, Tissue enriched (brain)
MalaCardsiSLC5A7
MIMi158580, phenotype
608761, gene
617143, phenotype
neXtProtiNX_Q9GZV3
OpenTargetsiENSG00000115665
Orphaneti139589, Distal hereditary motor neuropathy type 7
98914, Presynaptic congenital myasthenic syndromes
PharmGKBiPA37838

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3761, Eukaryota
GeneTreeiENSGT00690000101915
HOGENOMiCLU_018808_10_0_1
InParanoidiQ9GZV3
KOiK14387
OMAiHSKEIMD
OrthoDBi799628at2759
PhylomeDBiQ9GZV3
TreeFamiTF314588

Enzyme and pathway databases

PathwayCommonsiQ9GZV3
ReactomeiR-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)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		60482, 5 hits in 866 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Choline_transporter

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		60482
PharosiQ9GZV3, Tchem

Protein Ontology

More...PROi		PR:Q9GZV3
RNActiQ9GZV3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000115665, Expressed in muscle layer of sigmoid colon and 78 other tissues
GenevisibleiQ9GZV3, HS

Family and domain databases

Gene3Di1.20.1730.10, 1 hit
InterProiView protein in InterPro
IPR038377, Na/Glc_symporter_sf
IPR001734, Na/solute_symporter
PfamiView protein in Pfam
PF00474, SSF, 1 hit
PROSITEiView protein in PROSITE
PS50283, NA_SOLUT_SYMP_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSC5A7_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9GZV3
Secondary accession number(s): Q53TF2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: March 1, 2001
Last modified: August 12, 2020
This is version 150 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<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

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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