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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-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • choline:sodium symporter activity Source: MGI
  • choline binding Source: Ensembl
  • choline transmembrane transporter activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ion transport, Neurotransmitter biosynthesis, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_15309. Acetylcholine Neurotransmitter Release Cycle.
REACT_19305. Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.

Protein family/group databases

TCDBi2.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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:14025. SLC5A7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66ExtracellularSequence Analysis
Transmembranei7 – 2721HelicalSequence AnalysisAdd
BLAST
Topological domaini28 – 4821CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei49 – 6921HelicalSequence AnalysisAdd
BLAST
Topological domaini70 – 8112ExtracellularSequence AnalysisAdd
BLAST
Transmembranei82 – 10221HelicalSequence AnalysisAdd
BLAST
Topological domaini103 – 12523CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei126 – 14621HelicalSequence AnalysisAdd
BLAST
Topological domaini147 – 16418ExtracellularSequence AnalysisAdd
BLAST
Transmembranei165 – 18521HelicalSequence AnalysisAdd
BLAST
Topological domaini186 – 1916CytoplasmicSequence Analysis
Transmembranei192 – 21221HelicalSequence AnalysisAdd
BLAST
Topological domaini213 – 23725ExtracellularSequence AnalysisAdd
BLAST
Transmembranei238 – 25821HelicalSequence AnalysisAdd
BLAST
Topological domaini259 – 27416CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei275 – 29521HelicalSequence AnalysisAdd
BLAST
Topological domaini296 – 31722ExtracellularSequence AnalysisAdd
BLAST
Transmembranei318 – 33821HelicalSequence AnalysisAdd
BLAST
Topological domaini339 – 37638CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei377 – 39721HelicalSequence AnalysisAdd
BLAST
Topological domaini398 – 4069ExtracellularSequence Analysis
Transmembranei407 – 42721HelicalSequence AnalysisAdd
BLAST
Topological domaini428 – 4358CytoplasmicSequence Analysis
Transmembranei436 – 45621HelicalSequence AnalysisAdd
BLAST
Topological domaini457 – 48125ExtracellularSequence AnalysisAdd
BLAST
Transmembranei482 – 50221HelicalSequence AnalysisAdd
BLAST
Topological domaini503 – 58078CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • neuronal cell body Source: Ensembl
  • plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane

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.

See also OMIM:158580

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi89 – 891I → A: Only 20% of wild-type choline uptake activity. 1 Publication
Mutagenesisi451 – 4511E → Q: Only 5% of wild-type choline uptake activity. 1 Publication

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

MIMi158580. phenotype.
Orphaneti139589. Distal hereditary motor neuropathy type 7.
PharmGKBiPA37838.

Chemistry

DrugBankiDB00122. Choline.

Polymorphism and mutation databases

BioMutaiSLC5A7.
DMDMi56404957.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 580580High affinity choline transporter 1PRO_0000105391Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi301 – 3011N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

Phosphorylated.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9GZV3.
PRIDEiQ9GZV3.

PTM databases

PhosphoSiteiQ9GZV3.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9GZV3.
CleanExiHS_SLC5A7.
GenevisibleiQ9GZV3. HS.

Organism-specific databases

HPAiHPA046105.

Interactioni

Subunit structurei

Homo-oligomerizes at cell surface.1 Publication

Protein-protein interaction databases

BioGridi121915. 3 interactions.
STRINGi9606.ENSP00000264047.

Structurei

3D structure databases

ProteinModelPortaliQ9GZV3.
SMRiQ9GZV3. Positions 81-443.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0591.
GeneTreeiENSGT00690000101915.
HOGENOMiHOG000016386.
HOVERGENiHBG054160.
InParanoidiQ9GZV3.
KOiK14387.
OMAiHAKYQKP.
OrthoDBiEOG7P8P7C.
PhylomeDBiQ9GZV3.
TreeFamiTF314588.

Family and domain databases

InterProiIPR001734. Na/solute_symporter.
[Graphical view]
PANTHERiPTHR11819. PTHR11819. 1 hit.
PfamiPF00474. SSF. 1 hit.
[Graphical view]
PROSITEiPS50283. NA_SOLUT_SYMP_3. 1 hit.
[Graphical view]

Sequencei

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
Checksum:i66CB35496CB6E2D6
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891I → V 40% reduction in choline uptake rate; found in 0.06 of Ashkenazi Jews. 1 Publication
Corresponds to variant rs1013940 [ dbSNP | Ensembl ].
VAR_020524

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
, AJ308379, AJ308380, AJ308381, AJ308382, AJ308383, AJ308384 Genomic DNA. Translation: CAC88115.1.
AC009963 Genomic DNA. Translation: AAY14927.1.
BC111525 mRNA. Translation: AAI11526.1.
CCDSiCCDS2074.1.
PIRiJC7502.
RefSeqiNP_068587.1. NM_021815.3.
UniGeneiHs.287758.

Genome annotation databases

EnsembliENST00000264047; ENSP00000264047; ENSG00000115665.
ENST00000409059; ENSP00000387346; ENSG00000115665.
GeneIDi60482.
KEGGihsa:60482.
UCSCiuc002tdv.3. human.

Keywords - Coding sequence diversityi

Polymorphism

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
, AJ308379, AJ308380, AJ308381, AJ308382, AJ308383, AJ308384 Genomic DNA. Translation: CAC88115.1.
AC009963 Genomic DNA. Translation: AAY14927.1.
BC111525 mRNA. Translation: AAI11526.1.
CCDSiCCDS2074.1.
PIRiJC7502.
RefSeqiNP_068587.1. NM_021815.3.
UniGeneiHs.287758.

3D structure databases

ProteinModelPortaliQ9GZV3.
SMRiQ9GZV3. Positions 81-443.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121915. 3 interactions.
STRINGi9606.ENSP00000264047.

Chemistry

BindingDBiQ9GZV3.
ChEMBLiCHEMBL4507.
DrugBankiDB00122. Choline.
GuidetoPHARMACOLOGYi914.

Protein family/group databases

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

PTM databases

PhosphoSiteiQ9GZV3.

Polymorphism and mutation databases

BioMutaiSLC5A7.
DMDMi56404957.

Proteomic databases

PaxDbiQ9GZV3.
PRIDEiQ9GZV3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264047; ENSP00000264047; ENSG00000115665.
ENST00000409059; ENSP00000387346; ENSG00000115665.
GeneIDi60482.
KEGGihsa:60482.
UCSCiuc002tdv.3. human.

Organism-specific databases

CTDi60482.
GeneCardsiGC02P108602.
HGNCiHGNC:14025. SLC5A7.
HPAiHPA046105.
MIMi158580. phenotype.
608761. gene.
neXtProtiNX_Q9GZV3.
Orphaneti139589. Distal hereditary motor neuropathy type 7.
PharmGKBiPA37838.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0591.
GeneTreeiENSGT00690000101915.
HOGENOMiHOG000016386.
HOVERGENiHBG054160.
InParanoidiQ9GZV3.
KOiK14387.
OMAiHAKYQKP.
OrthoDBiEOG7P8P7C.
PhylomeDBiQ9GZV3.
TreeFamiTF314588.

Enzyme and pathway databases

ReactomeiREACT_15309. Acetylcholine Neurotransmitter Release Cycle.
REACT_19305. Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.

Miscellaneous databases

GeneWikiiCholine_transporter.
GenomeRNAii60482.
NextBioi65355.
PROiQ9GZV3.
SOURCEiSearch...

Gene expression databases

BgeeiQ9GZV3.
CleanExiHS_SLC5A7.
GenevisibleiQ9GZV3. HS.

Family and domain databases

InterProiIPR001734. Na/solute_symporter.
[Graphical view]
PANTHERiPTHR11819. PTHR11819. 1 hit.
PfamiPF00474. SSF. 1 hit.
[Graphical view]
PROSITEiPS50283. NA_SOLUT_SYMP_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a human, hemicholinium-3-sensitive choline transporter."
    Apparsundaram S., Ferguson S.M., George A.L. Jr., Blakely R.D.
    Biochem. Biophys. Res. Commun. 276:862-867(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION.
    Tissue: Spinal cord.
  2. "Functional characterization of the human high-affinity choline transporter."
    Okuda T., Haga T.
    FEBS Lett. 484:92-97(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Spinal cord.
  3. "Molecular cloning of the human and murine high affinity choline transporters and characterization of the human gene structure."
    Wieland A., Bonisch H., Bruess M.
    Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Hypothalamus.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. Cited for: INVOLVEMENT IN HMN7A.
  7. "Transmembrane topology and oligomeric structure of the high-affinity choline transporter."
    Okuda T., Osawa C., Yamada H., Hayashi K., Nishikawa S., Ushio T., Kubo Y., Satou M., Ogawa H., Haga T.
    J. Biol. Chem. 287:42826-42834(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: TOPOLOGY, SUBUNIT, MUTAGENESIS OF ILE-89 AND GLU-451.
  8. "Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate."
    Okuda T., Okamura M., Kaitsuka C., Haga T., Gurwitz D.
    J. Biol. Chem. 277:45315-45322(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VAL-89.

Entry informationi

Entry nameiSC5A7_HUMAN
AccessioniPrimary (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: June 24, 2015
This is version 110 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Miscellaneous

Specifically inhibited by nanomolar concentrations of hemicholinium 3.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.