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UniProtKB - Q8WWX8 (SC5AB_HUMAN)

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Protein

Sodium/myo-inositol cotransporter 2

Gene

SLC5A11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the sodium-dependent cotransport of myo-inositol (MI) with a Na+:MI stoichiometry of 2:1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D-xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney.1 Publication

Miscellaneous

Acts as an autoimmune modifier in systemic lupus erythematosus (SLE) as it is significantly associated with low complement component 4 (C4), anti-Smith antibody, serositis, and alopecia.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processApoptosis, Ion transport, Sodium transport, Sugar transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-429593 Inositol transporters

Protein family/group databases

TCDBi2.A.21.3.6 the solute:sodium symporter (sss) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium/myo-inositol cotransporter 2
Short name:
Na(+)/myo-inositol cotransporter 2
Alternative name(s):
Sodium-dependent glucose cotransporter
Sodium/glucose cotransporter KST1
Sodium/myo-inositol transporter 2
Short name:
SMIT2
Solute carrier family 5 member 11
Gene namesi
Name:SLC5A11Imported
Synonyms:KST11 Publication, SLGTXImported, SMIT2By similarity
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000158865.12
HGNCiHGNC:23091 SLC5A11
MIMi610238 gene
neXtProtiNX_Q8WWX8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 27ExtracellularSequence analysisAdd BLAST27
Transmembranei28 – 48HelicalSequence analysisAdd BLAST21
Topological domaini49 – 65CytoplasmicSequence analysisAdd BLAST17
Transmembranei66 – 88HelicalSequence analysisAdd BLAST23
Topological domaini89 – 102ExtracellularSequence analysisAdd BLAST14
Transmembranei103 – 123HelicalSequence analysisAdd BLAST21
Topological domaini124 – 135CytoplasmicSequence analysisAdd BLAST12
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Topological domaini157 – 180ExtracellularSequence analysisAdd BLAST24
Transmembranei181 – 201HelicalSequence analysisAdd BLAST21
Topological domaini202 – 208CytoplasmicSequence analysis7
Transmembranei209 – 229HelicalSequence analysisAdd BLAST21
Topological domaini230 – 272ExtracellularSequence analysisAdd BLAST43
Transmembranei273 – 293HelicalSequence analysisAdd BLAST21
Topological domaini294 – 308CytoplasmicSequence analysisAdd BLAST15
Transmembranei309 – 329HelicalSequence analysisAdd BLAST21
Topological domaini330 – 375ExtracellularSequence analysisAdd BLAST46
Transmembranei376 – 396HelicalSequence analysisAdd BLAST21
Topological domaini397 – 418CytoplasmicSequence analysisAdd BLAST22
Transmembranei419 – 439HelicalSequence analysisAdd BLAST21
Topological domaini440 – 446ExtracellularSequence analysis7
Transmembranei447 – 467HelicalSequence analysisAdd BLAST21
Topological domaini468 – 479CytoplasmicSequence analysisAdd BLAST12
Transmembranei480 – 500HelicalSequence analysisAdd BLAST21
Topological domaini501 – 521ExtracellularSequence analysisAdd BLAST21
Transmembranei522 – 542HelicalSequence analysisAdd BLAST21
Topological domaini543 – 654CytoplasmicSequence analysisAdd BLAST112
Transmembranei655 – 675HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi115584
OpenTargetsiENSG00000158865
PharmGKBiPA134923660

Chemistry databases

ChEMBLiCHEMBL1744524
GuidetoPHARMACOLOGYi925

Polymorphism and mutation databases

BioMutaiSLC5A11
DMDMi74751588

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003315681 – 675Sodium/myo-inositol cotransporter 2Add BLAST675

Proteomic databases

PaxDbiQ8WWX8
PeptideAtlasiQ8WWX8
PRIDEiQ8WWX8
ProteomicsDBi74950
74951 [Q8WWX8-2]
74952 [Q8WWX8-3]
74953 [Q8WWX8-4]

PTM databases

iPTMnetiQ8WWX8
PhosphoSitePlusiQ8WWX8

Expressioni

Tissue specificityi

Highest expression in heart, skeletal muscle, kidney, liver and placenta. Weaker expression in brain, colon, spleen, lung and peripheral blood leukocytes.1 Publication

Gene expression databases

BgeeiENSG00000158865
CleanExiHS_SLC5A11
ExpressionAtlasiQ8WWX8 baseline and differential
GenevisibleiQ8WWX8 HS

Organism-specific databases

HPAiHPA035331

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KPNA3O005053EBI-10277669,EBI-358297

Protein-protein interaction databases

BioGridi125441, 3 interactors
IntActiQ8WWX8, 1 interactor
STRINGi9606.ENSP00000289932

Chemistry databases

BindingDBiQ8WWX8

Structurei

3D structure databases

ProteinModelPortaliQ8WWX8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IP49 Eukaryota
COG4146 LUCA
GeneTreeiENSGT00760000118955
HOGENOMiHOG000025422
HOVERGENiHBG052859
InParanoidiQ8WWX8
KOiK14391
OMAiKTHSCDM
OrthoDBiEOG091G077U
PhylomeDBiQ8WWX8
TreeFamiTF352855

Family and domain databases

Gene3Di1.20.1730.10, 1 hit
InterProiView protein in InterPro
IPR038377 Na/Glc_symporter_sf
IPR001734 Na/solute_symporter
PfamiView protein in Pfam
PF00474 SSF, 1 hit
TIGRFAMsiTIGR00813 sss, 1 hit
PROSITEiView protein in PROSITE
PS50283 NA_SOLUT_SYMP_3, 1 hit

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q8WWX8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MESGTSSPQP PQLDPLDAFP QKGLEPGDIA VLVLYFLFVL AVGLWSTVKT 
        60         70         80         90        100
KRDTVKGYFL AGGDMVWWPV GASLFASNVG SGHFIGLAGS GAATGISVSA 
       110        120        130        140        150
YELNGLFSVL MLAWIFLPIY IAGQVTTMPE YLRKRFGGIR IPIILAVLYL 
       160        170        180        190        200
FIYIFTKISV DMYAGAIFIQ QSLHLDLYLA IVGLLAITAV YTVAGGLAAV 
       210        220        230        240        250
IYTDALQTLI MLIGALTLMG YSFAAVGGME GLKEKYFLAL ASNRSENSSC 
       260        270        280        290        300
GLPREDAFHI FRDPLTSDLP WPGVLFGMSI PSLWYWCTDQ VIVQRTLAAK 
       310        320        330        340        350
NLSHAKGGAL MAAYLKVLPL FIMVFPGMVS RILFPDQVAC ADPEICQKIC 
       360        370        380        390        400
SNPSGCSDIA YPKLVLELLP TGLRGLMMAV MVAALMSSLT SIFNSASTIF 
       410        420        430        440        450
TMDLWNHLRP RASEKELMIV GRVFVLLLVL VSILWIPVVQ ASQGGQLFIY 
       460        470        480        490        500
IQSISSYLQP PVAVVFIMGC FWKRTNEKGA FWGLISGLLL GLVRLVLDFI 
       510        520        530        540        550
YVQPRCDQPD ERPVLVKSIH YLYFSMILST VTLITVSTVS WFTEPPSKEM 
       560        570        580        590        600
VSHLTWFTRH DPVVQKEQAP PAAPLSLTLS QNGMPEASSS SSVQFEMVQE 
       610        620        630        640        650
NTSKTHSCDM TPKQSKVVKA ILWLCGIQEK GKEELPARAE AIIVSLEENP 
       660        670 
LVKTLLDVNL IFCVSCAIFI WGYFA
Length:675
Mass (Da):74,036
Last modified:March 1, 2002 - v1
Checksum:i44F7BA6D2FE92335
GO
Isoform 21 Publication (identifier: Q8WWX8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     125-159: Missing.

Show »
Length:640
Mass (Da):69,907
Checksum:i022BC26A2571B897
GO
Isoform 31 Publication (identifier: Q8WWX8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:611
Mass (Da):67,171
Checksum:iA5B41D063A056229
GO
Isoform 4 (identifier: Q8WWX8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-45: W → WVGSPSVAQGTRTQWWQSWLTPASTSWAQVILSPRLPDTEEVLSTRNRLSPDTKPLGALILNFQVSRI

Note: No experimental confirmation available.
Show »
Length:742
Mass (Da):81,465
Checksum:iF1704416D5A1E875
GO
Isoform 5 (identifier: Q8WWX8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-104: Missing.
     125-159: Missing.

Note: No experimental confirmation available.
Show »
Length:605
Mass (Da):66,643
Checksum:iC6B958E973E76E6E
GO
Isoform 6 (identifier: Q8WWX8-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: Missing.
     223-302: FAAVGGMEGL...VQRTLAAKNL → DCPADSGCQE...SQTRAGTPAH
     303-394: Missing.

Note: No experimental confirmation available.
Show »
Length:519
Mass (Da):57,098
Checksum:i8C0B47EEA9EEDE14
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti41A → T in AAK97053 (Ref. 2) Curated1
Sequence conflicti371T → P in CAC83728 (Ref. 3) Curated1
Sequence conflicti547S → P in BAC86105 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05249447T → P. Corresponds to variant dbSNP:rs36048966Ensembl.1
Natural variantiVAR_042896182V → A Reduces serum myo-inositol concentration. 4 PublicationsCorresponds to variant dbSNP:rs11074656Ensembl.1
Natural variantiVAR_042897258F → L1 PublicationCorresponds to variant dbSNP:rs35993597Ensembl.1
Natural variantiVAR_042898452Q → R1 PublicationCorresponds to variant dbSNP:rs17854935Ensembl.1
Natural variantiVAR_042899526M → I1 Publication1
Natural variantiVAR_061877539V → M. Corresponds to variant dbSNP:rs35038575Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0527891 – 64Missing in isoform 3 and isoform 6. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_03325945W → WVGSPSVAQGTRTQWWQSWL TPASTSWAQVILSPRLPDTE EVLSTRNRLSPDTKPLGALI LNFQVSRI in isoform 4. 1 Publication1
Alternative sequenceiVSP_04503470 – 104Missing in isoform 5. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_052790125 – 159Missing in isoform 2 and isoform 5. 2 PublicationsAdd BLAST35
Alternative sequenceiVSP_045035223 – 302FAAVG…AAKNL → DCPADSGCQEPVPCQRRCSD GCIPEGAAPLHNGVPWDGQP HPLPRSSGLCRSRDLPEDLQ QPLRLFGHRVSQTRAGTPAH in isoform 6. 1 PublicationAdd BLAST80
Alternative sequenceiVSP_045036303 – 394Missing in isoform 6. 1 PublicationAdd BLAST92

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY044906 mRNA Translation: AAK97784.1
AF292385 mRNA Translation: AAK97053.1
AJ305237 mRNA Translation: CAC83728.1
AK125267 mRNA Translation: BAC86105.1
AK295427 mRNA Translation: BAH12065.1
AC008731 Genomic DNA No translation available.
CH471145 Genomic DNA Translation: EAW55781.1
BC049385 mRNA Translation: AAH49385.1
BC057780 mRNA Translation: AAH57780.1
CCDSiCCDS10625.1 [Q8WWX8-1]
CCDS58437.1 [Q8WWX8-2]
CCDS58438.1 [Q8WWX8-5]
CCDS58439.1 [Q8WWX8-3]
CCDS58440.1 [Q8WWX8-6]
RefSeqiNP_001245340.1, NM_001258411.2 [Q8WWX8-2]
NP_001245341.1, NM_001258412.2 [Q8WWX8-5]
NP_001245342.1, NM_001258413.2 [Q8WWX8-3]
NP_001245343.1, NM_001258414.1 [Q8WWX8-6]
NP_443176.2, NM_052944.4 [Q8WWX8-1]
XP_005255137.1, XM_005255080.2 [Q8WWX8-1]
XP_016878389.1, XM_017022900.1 [Q8WWX8-1]
XP_016878390.1, XM_017022901.1 [Q8WWX8-1]
XP_016878391.1, XM_017022902.1 [Q8WWX8-1]
XP_016878392.1, XM_017022903.1 [Q8WWX8-1]
XP_016878394.1, XM_017022905.1 [Q8WWX8-2]
XP_016878395.1, XM_017022906.1 [Q8WWX8-3]
UniGeneiHs.164118

Genome annotation databases

EnsembliENST00000347898; ENSP00000289932; ENSG00000158865 [Q8WWX8-1]
ENST00000424767; ENSP00000416782; ENSG00000158865 [Q8WWX8-2]
ENST00000449109; ENSP00000389606; ENSG00000158865 [Q8WWX8-6]
ENST00000545376; ENSP00000441384; ENSG00000158865 [Q8WWX8-5]
ENST00000565769; ENSP00000457179; ENSG00000158865 [Q8WWX8-3]
ENST00000567758; ENSP00000454401; ENSG00000158865 [Q8WWX8-2]
ENST00000568579; ENSP00000456234; ENSG00000158865 [Q8WWX8-5]
ENST00000569071; ENSP00000456376; ENSG00000158865 [Q8WWX8-6]
GeneIDi115584
KEGGihsa:115584
UCSCiuc002dms.5 human [Q8WWX8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSC5AB_HUMAN
AccessioniPrimary (citable) accession number: Q8WWX8
Secondary accession number(s): B7Z329
, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q96PP5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: March 1, 2002
Last modified: July 18, 2018
This is version 124 of the entry and version 1 of the sequence. See 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 16
    Human chromosome 16: 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

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