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P53794

- SC5A3_HUMAN

UniProt

P53794 - SC5A3_HUMAN

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Protein

Sodium/myo-inositol cotransporter

Gene

SLC5A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Protein inferred from homologyi

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. inositol metabolic process Source: Ensembl
  2. peripheral nervous system development Source: Ensembl
  3. regulation of respiratory gaseous exchange Source: Ensembl
  4. transmembrane transport Source: Reactome
  5. transport Source: ProtInc
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 99ExtracellularSequence Analysis
Transmembranei10 – 2920HelicalSequence AnalysisAdd
BLAST
Topological domaini30 – 389CytoplasmicSequence Analysis
Transmembranei39 – 5719HelicalSequence AnalysisAdd
BLAST
Topological domaini58 – 8629ExtracellularSequence AnalysisAdd
BLAST
Transmembranei87 – 11024HelicalSequence AnalysisAdd
BLAST
Topological domaini111 – 12313CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei124 – 14421HelicalSequence AnalysisAdd
BLAST
Topological domaini145 – 15713ExtracellularSequence AnalysisAdd
BLAST
Transmembranei158 – 18326HelicalSequence AnalysisAdd
BLAST
Topological domaini184 – 1863CytoplasmicSequence Analysis
Transmembranei187 – 20519HelicalSequence AnalysisAdd
BLAST
Topological domaini206 – 30398ExtracellularSequence AnalysisAdd
BLAST
Transmembranei304 – 32421HelicalSequence AnalysisAdd
BLAST
Topological domaini325 – 35329CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei354 – 37623HelicalSequence AnalysisAdd
BLAST
Topological domaini377 – 40630ExtracellularSequence AnalysisAdd
BLAST
Transmembranei407 – 43024HelicalSequence AnalysisAdd
BLAST
Topological domaini431 – 44313CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei444 – 46219HelicalSequence AnalysisAdd
BLAST
Topological domaini463 – 51048ExtracellularSequence AnalysisAdd
BLAST
Transmembranei511 – 53222HelicalSequence AnalysisAdd
BLAST
Topological domaini533 – 695163CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei696 – 71621HelicalSequence AnalysisAdd
BLAST
Topological domaini717 – 7182ExtracellularSequence Analysis

GO - Cellular componenti

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

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. 10 interactions.
IntActiP53794. 2 interactions.
MINTiMINT-4657416.
STRINGi9606.ENSP00000370543.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG4146.
HOGENOMiHOG000025422.
HOVERGENiHBG052859.
InParanoidiP53794.
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

        10         20         30         40         50
MRAVLDTADI AIVALYFILV MCIGFFAMWK SNRSTVSGYF LAGRSMTWVT
60 70 80 90 100
IGASLFVSNI GSEHFIGLAG SGAASGFAVG AWEFNALLLL QLLGWVFIPI
110 120 130 140 150
YIRSGVYTMP EYLSKRFGGH RIQVYFAALS LILYIFTKLS VDLYSGALFI
160 170 180 190 200
QESLGWNLYV SVILLIGMTA LLTVTGGLVA VIYTDTLQAL LMIIGALTLM
210 220 230 240 250
IISIMEIGGF EEVKRRYMLA SPDVTSILLT YNLSNTNSCN VSPKKEALKM
260 270 280 290 300
LRNPTDEDVP WPGFILGQTP ASVWYWCADQ VIVQRVLAAK NIAHAKGSTL
310 320 330 340 350
MAGFLKLLPM FIIVVPGMIS RILFTDDIAC INPEHCMLVC GSRAGCSNIA
360 370 380 390 400
YPRLVMKLVP VGLRGLMMAV MIAALMSDLD SIFNSASTIF TLDVYKLIRK
410 420 430 440 450
SASSRELMIV GRIFVAFMVV ISIAWVPIIV EMQGGQMYLY IQEVADYLTP
460 470 480 490 500
PVAALFLLAI FWKRCNEQGA FYGGMAGFVL GAVRLILAFA YRAPECDQPD
510 520 530 540 550
NRPGFIKDIH YMYVATGLFW VTGLITVIVS LLTPPPTKEQ IRTTTFWSKK
560 570 580 590 600
NLVVKENCSP KEEPYQMQEK SILRCSENNE TINHIIPNGK SEDSIKGLQP
610 620 630 640 650
EDVNLLVTCR EEGNPVASLG HSEAETPVDA YSNGQAALMG EKERKKETDD
660 670 680 690 700
GGRYWKFIDW FCGFKSKSLS KRSLRDLMEE EAVCLQMLEE TRQVKVILNI
710
GLFAVCSLGI FMFVYFSL
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:
EMBLi
GenBanki
DDBJi
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.
UCSCiuc002yto.3. human.

Polymorphism databases

DMDMi3334498.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. 10 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 .
UCSCi uc002yto.3. human.

Organism-specific databases

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.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 133 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