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Protein

Solute carrier family 5 member 4

Gene

SLC5A4

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

Enzyme regulationi

Inhibited by phlorizin.3 Publications

GO - Molecular functioni

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.

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.

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.
CleanExiHS_SLC5A4.
GenevisibleiQ9NY91. HS.

Interactioni

Protein-protein interaction databases

IntActiQ9NY91. 3 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.
OMAiCVKHCGV.
OrthoDBiEOG091G077U.
PhylomeDBiQ9NY91.
TreeFamiTF352855.

Family and domain databases

InterProiView protein in InterPro
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

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: September 27, 2017
This is version 137 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 22
    Human chromosome 22: 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. SIMILARITY comments
    Index of protein domains and families