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Q9GZV3

- SC5A7_HUMAN

UniProt

Q9GZV3 - SC5A7_HUMAN

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Protein

High affinity choline transporter 1

Gene

SLC5A7

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. choline:sodium symporter activity Source: MGI
  2. choline binding Source: Ensembl
  3. choline transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  1. acetylcholine biosynthetic process Source: UniProtKB
  2. cell death Source: UniProtKB-KW
  3. neuromuscular synaptic transmission Source: Ensembl
  4. neurotransmitter secretion Source: Reactome
  5. synaptic transmission Source: Reactome
  6. synaptic transmission, cholinergic Source: Ensembl
  7. transmembrane transport Source: Reactome
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: Chromosome 2

Organism-specific databases

HGNCiHGNC:14025. SLC5A7.

Subcellular locationi

Membrane 1 Publication; Multi-pass membrane protein 1 Publication

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

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Neuronopathy, distal hereditary motor, 7A (HMN7A) [MIM:158580]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

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.

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.
ExpressionAtlasiQ9GZV3. baseline and differential.
GenevestigatoriQ9GZV3.

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_021815.2.
UniGeneiHs.287758.

Genome annotation databases

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

Polymorphism databases

DMDMi56404957.

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 .
CCDSi CCDS2074.1.
PIRi JC7502.
RefSeqi NP_068587.1. NM_021815.2.
UniGenei Hs.287758.

3D structure databases

ProteinModelPortali Q9GZV3.
SMRi Q9GZV3. Positions 81-443.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121915. 3 interactions.
STRINGi 9606.ENSP00000264047.

Chemistry

BindingDBi Q9GZV3.
ChEMBLi CHEMBL4507.
DrugBanki DB00122. Choline.
GuidetoPHARMACOLOGYi 914.

Protein family/group databases

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

PTM databases

PhosphoSitei Q9GZV3.

Polymorphism databases

DMDMi 56404957.

Proteomic databases

PaxDbi Q9GZV3.
PRIDEi Q9GZV3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264047 ; ENSP00000264047 ; ENSG00000115665 .
ENST00000409059 ; ENSP00000387346 ; ENSG00000115665 .
GeneIDi 60482.
KEGGi hsa:60482.
UCSCi uc002tdv.3. human.

Organism-specific databases

CTDi 60482.
GeneCardsi GC02P108602.
HGNCi HGNC:14025. SLC5A7.
HPAi HPA046105.
MIMi 158580. phenotype.
608761. gene.
neXtProti NX_Q9GZV3.
Orphaneti 139589. Distal hereditary motor neuropathy type 7.
PharmGKBi PA37838.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0591.
GeneTreei ENSGT00690000101915.
HOGENOMi HOG000016386.
HOVERGENi HBG054160.
InParanoidi Q9GZV3.
KOi K14387.
OMAi HAKYQKP.
OrthoDBi EOG7P8P7C.
PhylomeDBi Q9GZV3.
TreeFami TF314588.

Enzyme and pathway databases

Reactomei REACT_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

GeneWikii Choline_transporter.
GenomeRNAii 60482.
NextBioi 65355.
PROi Q9GZV3.
SOURCEi Search...

Gene expression databases

Bgeei Q9GZV3.
CleanExi HS_SLC5A7.
ExpressionAtlasi Q9GZV3. baseline and differential.
Genevestigatori Q9GZV3.

Family and domain databases

InterProi IPR001734. Na/solute_symporter.
[Graphical view ]
PANTHERi PTHR11819. PTHR11819. 1 hit.
Pfami PF00474. SSF. 1 hit.
[Graphical view ]
PROSITEi PS50283. NA_SOLUT_SYMP_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 105 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