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Q9GZV3

- SC5A7_HUMAN

UniProt

Q9GZV3 - SC5A7_HUMAN

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
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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

    ArrayExpressiQ9GZV3.
    BgeeiQ9GZV3.
    CleanExiHS_SLC5A7.
    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...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66ExtracellularSequence Analysis
    Topological domaini28 – 4821CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini70 – 8112ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini103 – 12523CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini147 – 16418ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini186 – 1916CytoplasmicSequence Analysis
    Topological domaini213 – 23725ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini259 – 27416CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini296 – 31722ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini339 – 37638CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini398 – 4069ExtracellularSequence Analysis
    Topological domaini428 – 4358CytoplasmicSequence Analysis
    Topological domaini457 – 48125ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini503 – 58078CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei49 – 6921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei82 – 10221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei126 – 14621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei165 – 18521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei192 – 21221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei238 – 25821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei275 – 29521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei318 – 33821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei377 – 39721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei407 – 42721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei436 – 45621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei482 – 50221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0591.
    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

    MAFHVEGLIA IIVFYLLILL VGIWAAWRTK NSGSAEERSE AIIVGGRDIG    50
    LLVGGFTMTA TWVGGGYING TAEAVYVPGY GLAWAQAPIG YSLSLILGGL 100
    FFAKPMRSKG YVTMLDPFQQ IYGKRMGGLL FIPALMGEMF WAAAIFSALG 150
    ATISVIIDVD MHISVIISAL IATLYTLVGG LYSVAYTDVV QLFCIFVGLW 200
    ISVPFALSHP AVADIGFTAV HAKYQKPWLG TVDSSEVYSW LDSFLLLMLG 250
    GIPWQAYFQR VLSSSSATYA QVLSFLAAFG CLVMAIPAIL IGAIGASTDW 300
    NQTAYGLPDP KTTEEADMIL PIVLQYLCPV YISFFGLGAV SAAVMSSADS 350
    SILSASSMFA RNIYQLSFRQ NASDKEIVWV MRITVFVFGA SATAMALLTK 400
    TVYGLWYLSS DLVYIVIFPQ LLCVLFVKGT NTYGAVAGYV SGLFLRITGG 450
    EPYLYLQPLI FYPGYYPDDN GIYNQKFPFK TLAMVTSFLT NICISYLAKY 500
    LFESGTLPPK LDVFDAVVAR HSEENMDKTI LVKNENIKLD ELALVKPRQS 550
    MTLSSTFTNK EAFLDVDSSP EGSGTEDNLQ 580
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    ArrayExpressi Q9GZV3.
    Bgeei Q9GZV3.
    CleanExi HS_SLC5A7.
    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

    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 1, 2014
    This is version 104 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