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Protein

Solute carrier family 5 member 4

Gene

SLC5A4

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

Functioni

Has electrogenic activity in response to glucose, and may function as a glucose sensor (PubMed:13130073, PubMed:17110502, PubMed:20421923, PubMed:22766068). Mediates influx of sodium ions into the cell but does not transport sugars (PubMed:13130073, PubMed:22766068). Also potently activated by imino sugars such as deoxynojirimycin (DNJ) (PubMed:17110502, PubMed:20421923, PubMed:22766068).4 Publications

Activity regulationi

Inhibited by phlorizin.3 Publications

GO - Molecular functioni

  • glucose:sodium symporter activity Source: GO_Central

GO - Biological processi

Keywordsi

Biological processIon transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-189200 Cellular hexose transport

Protein family/group databases

TCDBi2.A.21.3.18 the solute:sodium symporter (sss) family

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 5 member 41 Publication
Gene namesi
Name:SLC5A41 Publication
Synonyms:SAAT1, SGLT31 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100191.5
HGNCiHGNC:11039 SLC5A4
neXtProtiNX_Q9NY91

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 – 28CytoplasmicSequence analysisAdd BLAST28
Transmembranei29 – 47HelicalSequence analysisAdd BLAST19
Topological domaini48 – 64ExtracellularSequence analysisAdd BLAST17
Transmembranei65 – 85HelicalSequence analysisAdd BLAST21
Topological domaini86 – 105CytoplasmicSequence analysisAdd BLAST20
Transmembranei106 – 126HelicalSequence analysisAdd BLAST21
Topological domaini127 – 171ExtracellularSequence analysisAdd BLAST45
Transmembranei172 – 191HelicalSequence analysisAdd BLAST20
Topological domaini192 – 208CytoplasmicSequence analysisAdd BLAST17
Transmembranei209 – 229HelicalSequence analysisAdd BLAST21
Topological domaini230 – 270ExtracellularSequence analysisAdd BLAST41
Transmembranei271 – 291HelicalSequence analysisAdd BLAST21
Topological domaini292 – 314CytoplasmicSequence analysisAdd BLAST23
Transmembranei315 – 334HelicalSequence analysisAdd BLAST20
Topological domaini335 – 423ExtracellularSequence analysisAdd BLAST89
Transmembranei424 – 443HelicalSequence analysisAdd BLAST20
Topological domaini444 – 455CytoplasmicSequence analysisAdd BLAST12
Transmembranei456 – 476HelicalSequence analysisAdd BLAST21
Topological domaini477 – 526ExtracellularSequence analysisAdd BLAST50
Transmembranei527 – 547HelicalSequence analysisAdd BLAST21
Topological domaini548 – 637CytoplasmicSequence analysisAdd BLAST90
Transmembranei638 – 658HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi457E → Q: Confers sugar transport activity not found in the wild-type protein. Increased sensitivity to inhibitor phlorizin. 1 Publication1

Organism-specific databases

DisGeNETi6527
OpenTargetsiENSG00000100191
PharmGKBiPA35904

Chemistry databases

ChEMBLiCHEMBL1770047

Polymorphism and mutation databases

BioMutaiSLC5A4
DMDMi17433306

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001053761 – 659Solute carrier family 5 member 4Add BLAST659

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi248N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NY91
PeptideAtlasiQ9NY91
PRIDEiQ9NY91
ProteomicsDBi83196

PTM databases

iPTMnetiQ9NY91
PhosphoSitePlusiQ9NY91

Expressioni

Tissue specificityi

Expressed in skeletal muscle, where it may localize to the neuromuscular junction (at protein level) (PubMed:13130073). Expressed in small intestine where it may localize to cholinergic neurons of the submucosal plexus and myenteric plexus (at protein level) (PubMed:13130073). Detected in kidney (at protein level) (PubMed:22766068).2 Publications

Gene expression databases

BgeeiENSG00000100191 Expressed in 78 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_SLC5A4
GenevisibleiQ9NY91 HS

Interactioni

Protein-protein interaction databases

IntActiQ9NY91, 4 interactors
STRINGi9606.ENSP00000266086

Chemistry databases

BindingDBiQ9NY91

Structurei

3D structure databases

ProteinModelPortaliQ9NY91
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IP49 Eukaryota
COG4146 LUCA
GeneTreeiENSGT00760000118955
HOGENOMiHOG000025422
HOVERGENiHBG052859
InParanoidiQ9NY91
KOiK14384
OMAiCYTPQAD
OrthoDBiEOG091G077U
PhylomeDBiQ9NY91
TreeFamiTF352855

Family and domain databases

Gene3Di1.20.1730.10, 1 hit
InterProiView protein in InterPro
IPR038377 Na/Glc_symporter_sf
IPR001734 Na/solute_symporter
IPR018212 Na/solute_symporter_CS
PfamiView protein in Pfam
PF00474 SSF, 1 hit
TIGRFAMsiTIGR00813 sss, 1 hit
PROSITEiView protein in PROSITE
PS00456 NA_SOLUT_SYMP_1, 1 hit
PS00457 NA_SOLUT_SYMP_2, 1 hit
PS50283 NA_SOLUT_SYMP_3, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NY91-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MASTVSPSTI AETPEPPPLS DHIRNAADIS VIVIYFLVVM AVGLWAMLKT
60 70 80 90 100
NRGTIGGFFL AGRDMAWWPM GASLFASNIG SNHYVGLAGT GAASGVATVT
110 120 130 140 150
FEWTSSVMLL ILGWIFVPIY IKSGVMTMPE YLKKRFGGER LQVYLSILSL
160 170 180 190 200
FICVVLLISA DIFAGAIFIK LALGLDLYLA IFILLAMTAV YTTTGGLASV
210 220 230 240 250
IYTDTLQTII MLIGSFILMG FAFNEVGGYE SFTEKYVNAT PSVVEGDNLT
260 270 280 290 300
ISASCYTPRA DSFHIFRDAV TGDIPWPGII FGMPITALWY WCTNQVIVQR
310 320 330 340 350
CLCGKDMSHV KAACIMCAYL KLLPMFLMVM PGMISRILYT DMVACVVPSE
360 370 380 390 400
CVKHCGVDVG CTNYAYPTMV LELMPQGLRG LMLSVMLASL MSSLTSIFNS
410 420 430 440 450
ASTLFTIDLY TKMRKQASEK ELLIAGRIFV LLLTVVSIVW VPLVQVSQNG
460 470 480 490 500
QLIHYTESIS SYLGPPIAAV FVLAIFCKRV NEQGAFWGLM VGLAMGLIRM
510 520 530 540 550
ITEFAYGTGS CLAPSNCPKI ICGVHYLYFS IVLFFGSMLV TLGISLLTKP
560 570 580 590 600
IPDVHLYRLC WVLRNSTEER IDIDAEEKSQ EETDDGVEED YPEKSRGCLK
610 620 630 640 650
KAYDLFCGLQ KGPKLTKEEE EALSKKLTDT SERPSWRTIV NINAILLLAV

VVFIHGYYA
Length:659
Mass (Da):72,456
Last modified:October 1, 2000 - v1
Checksum:iF8A34AED648B523A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti76A → V in AAB61732 (Ref. 3) Curated1
Sequence conflicti106S → P in AAB61732 (Ref. 3) Curated1
Sequence conflicti243V → I in AAB61732 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0524894T → M. Corresponds to variant dbSNP:rs16990065Ensembl.1
Natural variantiVAR_02199746A → T. Corresponds to variant dbSNP:rs2235171Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ133127 mRNA Translation: CAB81772.1
AL008723 Genomic DNA No translation available.
U41897 mRNA Translation: AAB61732.1
CCDSiCCDS13903.1
RefSeqiNP_055042.1, NM_014227.2
UniGeneiHs.130101

Genome annotation databases

EnsembliENST00000266086; ENSP00000266086; ENSG00000100191
GeneIDi6527
KEGGihsa:6527
UCSCiuc003ami.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ133127 mRNA Translation: CAB81772.1
AL008723 Genomic DNA No translation available.
U41897 mRNA Translation: AAB61732.1
CCDSiCCDS13903.1
RefSeqiNP_055042.1, NM_014227.2
UniGeneiHs.130101

3D structure databases

ProteinModelPortaliQ9NY91
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9NY91, 4 interactors
STRINGi9606.ENSP00000266086

Chemistry databases

BindingDBiQ9NY91
ChEMBLiCHEMBL1770047

Protein family/group databases

TCDBi2.A.21.3.18 the solute:sodium symporter (sss) family

PTM databases

iPTMnetiQ9NY91
PhosphoSitePlusiQ9NY91

Polymorphism and mutation databases

BioMutaiSLC5A4
DMDMi17433306

Proteomic databases

PaxDbiQ9NY91
PeptideAtlasiQ9NY91
PRIDEiQ9NY91
ProteomicsDBi83196

Protocols and materials databases

DNASUi6527
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266086; ENSP00000266086; ENSG00000100191
GeneIDi6527
KEGGihsa:6527
UCSCiuc003ami.4 human

Organism-specific databases

CTDi6527
DisGeNETi6527
EuPathDBiHostDB:ENSG00000100191.5
GeneCardsiSLC5A4
HGNCiHGNC:11039 SLC5A4
neXtProtiNX_Q9NY91
OpenTargetsiENSG00000100191
PharmGKBiPA35904
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IP49 Eukaryota
COG4146 LUCA
GeneTreeiENSGT00760000118955
HOGENOMiHOG000025422
HOVERGENiHBG052859
InParanoidiQ9NY91
KOiK14384
OMAiCYTPQAD
OrthoDBiEOG091G077U
PhylomeDBiQ9NY91
TreeFamiTF352855

Enzyme and pathway databases

ReactomeiR-HSA-189200 Cellular hexose transport

Miscellaneous databases

ChiTaRSiSLC5A4 human
GeneWikiiSLC5A4
GenomeRNAii6527
PROiPR:Q9NY91

Gene expression databases

BgeeiENSG00000100191 Expressed in 78 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_SLC5A4
GenevisibleiQ9NY91 HS

Family and domain databases

Gene3Di1.20.1730.10, 1 hit
InterProiView protein in InterPro
IPR038377 Na/Glc_symporter_sf
IPR001734 Na/solute_symporter
IPR018212 Na/solute_symporter_CS
PfamiView protein in Pfam
PF00474 SSF, 1 hit
TIGRFAMsiTIGR00813 sss, 1 hit
PROSITEiView protein in PROSITE
PS00456 NA_SOLUT_SYMP_1, 1 hit
PS00457 NA_SOLUT_SYMP_2, 1 hit
PS50283 NA_SOLUT_SYMP_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSC5A4_HUMAN
AccessioniPrimary (citable) accession number: Q9NY91
Secondary accession number(s): O15279
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 143 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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