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P53794 (SC5A3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
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to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC5A3
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length718 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Membrane; Multi-pass membrane protein.

Sequence similarities

Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. [View classification]

Ontologies

Keywords
   Biological processIon transport
Sodium transport
Symport
Transport
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   LigandSodium
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular componentintegral to plasma membrane

Traceable author statement. Source: ProtInc

   Molecular functionmyo-inositol:sodium symporter activity

Traceable author statement. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 718718Sodium/myo-inositol cotransporter
PRO_0000105381

Regions

Topological domain1 – 99Extracellular Potential
Transmembrane10 – 2920Helical; Potential
Topological domain30 – 389Cytoplasmic Potential
Transmembrane39 – 5719Helical; Potential
Topological domain58 – 8629Extracellular Potential
Transmembrane87 – 11024Helical; Potential
Topological domain111 – 12313Cytoplasmic Potential
Transmembrane124 – 14421Helical; Potential
Topological domain145 – 15713Extracellular Potential
Transmembrane158 – 18326Helical; Potential
Topological domain184 – 1863Cytoplasmic Potential
Transmembrane187 – 20519Helical; Potential
Topological domain206 – 30398Extracellular Potential
Transmembrane304 – 32421Helical; Potential
Topological domain325 – 35329Cytoplasmic Potential
Transmembrane354 – 37623Helical; Potential
Topological domain377 – 40630Extracellular Potential
Transmembrane407 – 43024Helical; Potential
Topological domain431 – 44313Cytoplasmic Potential
Transmembrane444 – 46219Helical; Potential
Topological domain463 – 51048Extracellular Potential
Transmembrane511 – 53222Helical; Potential
Topological domain533 – 695163Cytoplasmic Potential
Transmembrane696 – 71621Helical; Potential
Topological domain717 – 7182Extracellular Potential

Sites

Site241Implicated in sodium coupling By similarity
Site2851Implicated in sodium coupling By similarity

Amino acid modifications

Glycosylation2321N-linked (GlcNAc...) Potential

Natural variations

Natural variant501T → A. Ref.1
Corresponds to variant rs8129891 [ dbSNP | Ensembl ].
VAR_061875
Natural variant5661Q → K. Ref.1
Corresponds to variant rs4817617 [ dbSNP | Ensembl ].
VAR_061876

Experimental info

Sequence conflict311S → C in AAC41747. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P53794 [UniParc].

Last modified July 15, 1998. Version 2.
Checksum: 73A9697FC910363F

FASTA71879,694
        10         20         30         40         50         60 
MRAVLDTADI AIVALYFILV MCIGFFAMWK SNRSTVSGYF LAGRSMTWVT IGASLFVSNI 

        70         80         90        100        110        120 
GSEHFIGLAG SGAASGFAVG AWEFNALLLL QLLGWVFIPI YIRSGVYTMP EYLSKRFGGH 

       130        140        150        160        170        180 
RIQVYFAALS LILYIFTKLS VDLYSGALFI QESLGWNLYV SVILLIGMTA LLTVTGGLVA 

       190        200        210        220        230        240 
VIYTDTLQAL LMIIGALTLM IISIMEIGGF EEVKRRYMLA SPDVTSILLT YNLSNTNSCN 

       250        260        270        280        290        300 
VSPKKEALKM LRNPTDEDVP WPGFILGQTP ASVWYWCADQ VIVQRVLAAK NIAHAKGSTL 

       310        320        330        340        350        360 
MAGFLKLLPM FIIVVPGMIS RILFTDDIAC INPEHCMLVC GSRAGCSNIA YPRLVMKLVP 

       370        380        390        400        410        420 
VGLRGLMMAV MIAALMSDLD SIFNSASTIF TLDVYKLIRK SASSRELMIV GRIFVAFMVV 

       430        440        450        460        470        480 
ISIAWVPIIV EMQGGQMYLY IQEVADYLTP PVAALFLLAI FWKRCNEQGA FYGGMAGFVL 

       490        500        510        520        530        540 
GAVRLILAFA YRAPECDQPD NRPGFIKDIH YMYVATGLFW VTGLITVIVS LLTPPPTKEQ 

       550        560        570        580        590        600 
IRTTTFWSKK NLVVKENCSP KEEPYQMQEK SILRCSENNE TINHIIPNGK SEDSIKGLQP 

       610        620        630        640        650        660 
EDVNLLVTCR EEGNPVASLG HSEAETPVDA YSNGQAALMG EKERKKETDD GGRYWKFIDW 

       670        680        690        700        710 
FCGFKSKSLS KRSLRDLMEE EAVCLQMLEE TRQVKVILNI GLFAVCSLGI FMFVYFSL

« Hide

References

« Hide 'large scale' references
[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: 7789985] [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: 9441750] [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. expand/collapse author list , 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: 10830953] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		L38500 Genomic DNA. Translation: AAC41747.2.
AF027153 Genomic DNA. Translation: AAC39548.1.
AP001719 Genomic DNA. No translation available.
IPIIPI00296311.
PIRA56851.
RefSeqNP_008864.3. NM_006933.4.
UniGeneHs.302742.

3D structure databases

ProteinModelPortalP53794.
SMRP53794. Positions 6-539.
ModBaseSearch...

Protein-protein interaction databases

IntActP53794. 2 interactions.
STRINGP53794.

PTM databases

PhosphoSiteP53794.

Polymorphism databases

DMDM3334498.

Proteomic databases

PRIDEP53794.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000381151; ENSP00000370543; ENSG00000198743.
GeneID6526.
KEGGhsa:6526.
UCSCuc002yto.1. human.

Organism-specific databases

CTD6526.
GeneCardsGC21P035453.
HGNCHGNC:11038. SLC5A3.
HPAHPA029790.
HPA029791.
MIM600444. gene.
neXtProtNX_P53794.
PharmGKBPA35903.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG08917.
GeneTreeENSGT00550000074313.
HOGENOMHBG585824.
HOVERGENHBG052859.
InParanoidP53794.
OMAKRCNEQG.
OrthoDBEOG4JQ3X1.
PhylomeDBP53794.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP53794.
BgeeP53794.
GenevestigatorP53794.
GermOnlineENSG00000198743. Homo sapiens.

Family and domain databases

InterProIPR001734. Na/solute_symporter.
IPR018212. Na/solute_symporter_CS.
IPR019900. Na/solute_symporter_subgr.
[Graphical view]
KOK14383.
PANTHERPTHR11819. Na/solut_symport. 1 hit.
PfamPF00474. SSF. 1 hit.
[Graphical view]
TIGRFAMsTIGR00813. Sss. 1 hit.
PROSITEPS00456. NA_SOLUT_SYMP_1. 1 hit.
PS00457. NA_SOLUT_SYMP_2. 1 hit.
PS50283. NA_SOLUT_SYMP_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio25391.
SOURCESearch...

Entry information

Entry nameSC5A3_HUMAN
AccessionPrimary (citable) accession number: P53794
Secondary accession number(s): O43489
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 15, 1998
Last modified: January 25, 2012
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents