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P53794

- SC5A3_HUMAN

UniProt

P53794 - SC5A3_HUMAN

Protein

Sodium/myo-inositol cotransporter

Gene

SLC5A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Protein inferred from homologyi
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (15 Jul 1998)
      Previous versions | rss
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    Functioni

    Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei24 – 241Implicated in sodium couplingBy similarity
    Sitei285 – 2851Implicated in sodium couplingBy similarity

    GO - Molecular functioni

    1. myo-inositol:sodium symporter activity Source: ProtInc

    GO - Biological processi

    1. myo-inositol transport Source: GOC
    2. transmembrane transport Source: Reactome
    3. transport Source: ProtInc

    Keywords - Biological processi

    Ion transport, Sodium transport, Symport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_19165. Na+-dependent glucose transporters.
    REACT_19188. Inositol transporters.
    REACT_9441. Hexose transport.

    Protein family/group databases

    TCDBi2.A.21.3.14. the solute:sodium symporter (sss) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium/myo-inositol cotransporter
    Short name:
    Na(+)/myo-inositol cotransporter
    Alternative name(s):
    Sodium/myo-inositol transporter 1
    Short name:
    SMIT1
    Solute carrier family 5 member 3
    Gene namesi
    Name:SLC5A3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:11038. SLC5A3.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: ProtInc
    2. integral component of plasma membrane Source: ProtInc
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35903.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 718718Sodium/myo-inositol cotransporterPRO_0000105381Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi232 – 2321N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiP53794.
    PaxDbiP53794.
    PRIDEiP53794.

    PTM databases

    PhosphoSiteiP53794.

    Expressioni

    Gene expression databases

    BgeeiP53794.
    GenevestigatoriP53794.

    Organism-specific databases

    HPAiHPA029790.
    HPA029791.

    Interactioni

    Protein-protein interaction databases

    BioGridi112417. 3 interactions.
    IntActiP53794. 2 interactions.
    MINTiMINT-4657416.
    STRINGi9606.ENSP00000370543.

    Structurei

    3D structure databases

    ProteinModelPortaliP53794.
    SMRiP53794. Positions 9-476.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 99ExtracellularSequence Analysis
    Topological domaini30 – 389CytoplasmicSequence Analysis
    Topological domaini58 – 8629ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini111 – 12313CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini145 – 15713ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini184 – 1863CytoplasmicSequence Analysis
    Topological domaini206 – 30398ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini325 – 35329CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini377 – 40630ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini431 – 44313CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini463 – 51048ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini533 – 695163CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini717 – 7182ExtracellularSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei10 – 2920HelicalSequence AnalysisAdd
    BLAST
    Transmembranei39 – 5719HelicalSequence AnalysisAdd
    BLAST
    Transmembranei87 – 11024HelicalSequence AnalysisAdd
    BLAST
    Transmembranei124 – 14421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei158 – 18326HelicalSequence AnalysisAdd
    BLAST
    Transmembranei187 – 20519HelicalSequence AnalysisAdd
    BLAST
    Transmembranei304 – 32421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei354 – 37623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei407 – 43024HelicalSequence AnalysisAdd
    BLAST
    Transmembranei444 – 46219HelicalSequence AnalysisAdd
    BLAST
    Transmembranei511 – 53222HelicalSequence AnalysisAdd
    BLAST
    Transmembranei696 – 71621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG4146.
    HOGENOMiHOG000025422.
    HOVERGENiHBG052859.
    InParanoidiP53794.
    KOiK14383.
    OMAiSRYWKFI.
    OrthoDBiEOG77126J.
    PhylomeDBiP53794.
    TreeFamiTF352855.

    Family and domain databases

    InterProiIPR001734. Na/solute_symporter.
    IPR018212. Na/solute_symporter_CS.
    IPR019900. Na/solute_symporter_subgr.
    [Graphical view]
    PANTHERiPTHR11819. PTHR11819. 1 hit.
    PfamiPF00474. SSF. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR00813. sss. 1 hit.
    PROSITEiPS00456. NA_SOLUT_SYMP_1. 1 hit.
    PS00457. NA_SOLUT_SYMP_2. 1 hit.
    PS50283. NA_SOLUT_SYMP_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P53794-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRAVLDTADI AIVALYFILV MCIGFFAMWK SNRSTVSGYF LAGRSMTWVT    50
    IGASLFVSNI GSEHFIGLAG SGAASGFAVG AWEFNALLLL QLLGWVFIPI 100
    YIRSGVYTMP EYLSKRFGGH RIQVYFAALS LILYIFTKLS VDLYSGALFI 150
    QESLGWNLYV SVILLIGMTA LLTVTGGLVA VIYTDTLQAL LMIIGALTLM 200
    IISIMEIGGF EEVKRRYMLA SPDVTSILLT YNLSNTNSCN VSPKKEALKM 250
    LRNPTDEDVP WPGFILGQTP ASVWYWCADQ VIVQRVLAAK NIAHAKGSTL 300
    MAGFLKLLPM FIIVVPGMIS RILFTDDIAC INPEHCMLVC GSRAGCSNIA 350
    YPRLVMKLVP VGLRGLMMAV MIAALMSDLD SIFNSASTIF TLDVYKLIRK 400
    SASSRELMIV GRIFVAFMVV ISIAWVPIIV EMQGGQMYLY IQEVADYLTP 450
    PVAALFLLAI FWKRCNEQGA FYGGMAGFVL GAVRLILAFA YRAPECDQPD 500
    NRPGFIKDIH YMYVATGLFW VTGLITVIVS LLTPPPTKEQ IRTTTFWSKK 550
    NLVVKENCSP KEEPYQMQEK SILRCSENNE TINHIIPNGK SEDSIKGLQP 600
    EDVNLLVTCR EEGNPVASLG HSEAETPVDA YSNGQAALMG EKERKKETDD 650
    GGRYWKFIDW FCGFKSKSLS KRSLRDLMEE EAVCLQMLEE TRQVKVILNI 700
    GLFAVCSLGI FMFVYFSL 718
    Length:718
    Mass (Da):79,694
    Last modified:July 15, 1998 - v2
    Checksum:i73A9697FC910363F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti31 – 311S → C in AAC41747. (PubMed:7789985)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501T → A.1 Publication
    Corresponds to variant rs8129891 [ dbSNP | Ensembl ].
    VAR_061875
    Natural varianti566 – 5661Q → K.1 Publication
    Corresponds to variant rs4817617 [ dbSNP | Ensembl ].
    VAR_061876

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L38500 Genomic DNA. Translation: AAC41747.2.
    AF027153 Genomic DNA. Translation: AAC39548.1.
    AP001719 Genomic DNA. No translation available.
    CCDSiCCDS33549.1.
    PIRiA56851.
    UniGeneiHs.302742.

    Genome annotation databases

    EnsembliENST00000381151; ENSP00000370543; ENSG00000198743.
    KEGGihsa:6526.
    UCSCiuc002yto.3. human.

    Polymorphism databases

    DMDMi3334498.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L38500 Genomic DNA. Translation: AAC41747.2 .
    AF027153 Genomic DNA. Translation: AAC39548.1 .
    AP001719 Genomic DNA. No translation available.
    CCDSi CCDS33549.1.
    PIRi A56851.
    UniGenei Hs.302742.

    3D structure databases

    ProteinModelPortali P53794.
    SMRi P53794. Positions 9-476.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112417. 3 interactions.
    IntActi P53794. 2 interactions.
    MINTi MINT-4657416.
    STRINGi 9606.ENSP00000370543.

    Chemistry

    GuidetoPHARMACOLOGYi 924.

    Protein family/group databases

    TCDBi 2.A.21.3.14. the solute:sodium symporter (sss) family.

    PTM databases

    PhosphoSitei P53794.

    Polymorphism databases

    DMDMi 3334498.

    Proteomic databases

    MaxQBi P53794.
    PaxDbi P53794.
    PRIDEi P53794.

    Protocols and materials databases

    DNASUi 6526.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000381151 ; ENSP00000370543 ; ENSG00000198743 .
    KEGGi hsa:6526.
    UCSCi uc002yto.3. human.

    Organism-specific databases

    CTDi 6526.
    GeneCardsi GC21P035461.
    HGNCi HGNC:11038. SLC5A3.
    HPAi HPA029790.
    HPA029791.
    MIMi 600444. gene.
    neXtProti NX_P53794.
    PharmGKBi PA35903.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4146.
    HOGENOMi HOG000025422.
    HOVERGENi HBG052859.
    InParanoidi P53794.
    KOi K14383.
    OMAi SRYWKFI.
    OrthoDBi EOG77126J.
    PhylomeDBi P53794.
    TreeFami TF352855.

    Enzyme and pathway databases

    Reactomei REACT_19165. Na+-dependent glucose transporters.
    REACT_19188. Inositol transporters.
    REACT_9441. Hexose transport.

    Miscellaneous databases

    ChiTaRSi SLC5A3. human.
    GenomeRNAii 6526.
    NextBioi 25391.
    PROi P53794.
    SOURCEi Search...

    Gene expression databases

    Bgeei P53794.
    Genevestigatori P53794.

    Family and domain databases

    InterProi IPR001734. Na/solute_symporter.
    IPR018212. Na/solute_symporter_CS.
    IPR019900. Na/solute_symporter_subgr.
    [Graphical view ]
    PANTHERi PTHR11819. PTHR11819. 1 hit.
    Pfami PF00474. SSF. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00813. sss. 1 hit.
    PROSITEi PS00456. NA_SOLUT_SYMP_1. 1 hit.
    PS00457. NA_SOLUT_SYMP_2. 1 hit.
    PS50283. NA_SOLUT_SYMP_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21."
      Berry G.T., Mallee J.J., Kwon H.M., Rim J.S., Mulla W.R., Muenke M., Spinner N.B.
      Genomics 25:507-513(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-50 AND LYS-566.
      Tissue: Placenta.
    2. Berry G.T., Mallee J.J., Kwon H.M., Rim J.S., Mulla W.R., Muenke M., Spinner N.B.
      Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO 50 AND 566.
    3. "The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter."
      Mallee J.J., Atta M.G., Lorica V., Rim J.S., Kwon H.M., Lucente A.D., Wang Y., Berry G.T.
      Genomics 46:459-465(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiSC5A3_HUMAN
    AccessioniPrimary (citable) accession number: P53794
    Secondary accession number(s): O43489
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: July 15, 1998
    Last modified: October 1, 2014
    This is version 131 of the entry and version 2 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 21
      Human chromosome 21: 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