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P13866

- SC5A1_HUMAN

UniProt

P13866 - SC5A1_HUMAN

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Protein

Sodium/glucose cotransporter 1

Gene

SLC5A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Actively transports glucose into cells by Na+ cotransport with a Na+ to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na+/glucose cotransporter arranged in series along kidney proximal tubules.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei43 – 431Implicated in sodium couplingBy similarity
Sitei300 – 3001Implicated in sodium couplingBy similarity
Binding sitei457 – 4571GlucoseBy similarity
Sitei460 – 4601Involved in sugar-binding/transport and inhibitor bindingBy similarity

GO - Molecular functioni

  1. glucose:sodium symporter activity Source: MGI

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. glucose transport Source: MGI
  3. hexose transport Source: Reactome
  4. intestinal absorption Source: Ensembl
  5. small molecule metabolic process Source: Reactome
  6. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Sugar 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.21.3.1. the solute:sodium symporter (sss) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium/glucose cotransporter 1
Short name:
Na(+)/glucose cotransporter 1
Alternative name(s):
High affinity sodium-glucose cotransporter
Solute carrier family 5 member 1
Gene namesi
Name:SLC5A1
Synonyms:NAGT, SGLT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:11036. SLC5A1.

Subcellular locationi

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. brush border membrane Source: Ensembl
  3. cell-cell junction Source: Ensembl
  4. extracellular vesicular exosome Source: UniProt
  5. integral component of plasma membrane Source: ProtInc
  6. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital glucose/galactose malabsorption (GGM) [MIM:606824]: Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281D → G in GGM. 1 Publication
VAR_013630
Natural varianti28 – 281D → N in GGM. 1 Publication
VAR_007168
Natural varianti135 – 1351R → W in GGM; loss of activity. 1 Publication
VAR_021502
Natural varianti318 – 3181G → R in GGM. 1 Publication
VAR_021503
Natural varianti468 – 4681A → V in GGM. 1 Publication
VAR_021504

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi248 – 2481N → Q: Loss of N-glycosylation. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi606824. phenotype.
Orphaneti35710. Glucose-galactose malabsorption.
PharmGKBiPA308.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 664664Sodium/glucose cotransporter 1PRO_0000105366Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi248 – 2481N-linked (GlcNAc...)1 Publication
Disulfide bondi255 ↔ 610By similarity

Post-translational modificationi

N-glycosylation is not necessary for the cotransporter function.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP13866.
PaxDbiP13866.
PRIDEiP13866.

PTM databases

PhosphoSiteiP13866.

Expressioni

Tissue specificityi

Expressed mainly in intestine and kidney.

Gene expression databases

BgeeiP13866.
CleanExiHS_SLC5A1.
ExpressionAtlasiP13866. baseline and differential.
GenevestigatoriP13866.

Organism-specific databases

HPAiCAB015467.
HPA051805.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
EGFRP005333EBI-1772443,EBI-297353

Protein-protein interaction databases

BioGridi112414. 2 interactions.
IntActiP13866. 1 interaction.
STRINGi9606.ENSP00000266088.

Structurei

3D structure databases

ProteinModelPortaliP13866.
SMRiP13866. Positions 28-490.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2828ExtracellularSequence AnalysisAdd
BLAST
Topological domaini50 – 6415CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini86 – 10520ExtracellularSequence AnalysisAdd
BLAST
Topological domaini127 – 14216CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini164 – 17815ExtracellularSequence AnalysisAdd
BLAST
Topological domaini202 – 2087CytoplasmicSequence Analysis
Topological domaini230 – 27748ExtracellularSequence AnalysisAdd
BLAST
Topological domaini299 – 31315CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini335 – 38046ExtracellularSequence AnalysisAdd
BLAST
Topological domaini402 – 42322CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini445 – 45511ExtracellularSequence AnalysisAdd
BLAST
Topological domaini477 – 4848CytoplasmicSequence Analysis
Topological domaini506 – 52621ExtracellularSequence AnalysisAdd
BLAST
Topological domaini564 – 64380ExtracellularSequence AnalysisAdd
BLAST

Intramembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei527 – 56337HelicalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei29 – 4921HelicalSequence AnalysisAdd
BLAST
Transmembranei65 – 8521HelicalSequence AnalysisAdd
BLAST
Transmembranei106 – 12621HelicalSequence AnalysisAdd
BLAST
Transmembranei143 – 16321HelicalSequence AnalysisAdd
BLAST
Transmembranei179 – 20123HelicalSequence AnalysisAdd
BLAST
Transmembranei209 – 22921HelicalSequence AnalysisAdd
BLAST
Transmembranei278 – 29821HelicalSequence AnalysisAdd
BLAST
Transmembranei314 – 33421HelicalSequence AnalysisAdd
BLAST
Transmembranei381 – 40121HelicalSequence AnalysisAdd
BLAST
Transmembranei424 – 44421HelicalSequence AnalysisAdd
BLAST
Transmembranei456 – 47621HelicalSequence AnalysisAdd
BLAST
Transmembranei485 – 50521HelicalSequence AnalysisAdd
BLAST
Transmembranei644 – 66421HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG4146.
GeneTreeiENSGT00760000118955.
HOVERGENiHBG052859.
InParanoidiP13866.
KOiK14158.
OMAiEMVKMGR.
OrthoDBiEOG77126J.
PhylomeDBiP13866.
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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P13866-1) [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
MDSSTWSPKT TAVTRPVETH ELIRNAADIS IIVIYFVVVM AVGLWAMFST
60 70 80 90 100
NRGTVGGFFL AGRSMVWWPI GASLFASNIG SGHFVGLAGT GAASGIAIGG
110 120 130 140 150
FEWNALVLVV VLGWLFVPIY IKAGVVTMPE YLRKRFGGQR IQVYLSLLSL
160 170 180 190 200
LLYIFTKISA DIFSGAIFIN LALGLNLYLA IFLLLAITAL YTITGGLAAV
210 220 230 240 250
IYTDTLQTVI MLVGSLILTG FAFHEVGGYD AFMEKYMKAI PTIVSDGNTT
260 270 280 290 300
FQEKCYTPRA DSFHIFRDPL TGDLPWPGFI FGMSILTLWY WCTDQVIVQR
310 320 330 340 350
CLSAKNMSHV KGGCILCGYL KLMPMFIMVM PGMISRILYT EKIACVVPSE
360 370 380 390 400
CEKYCGTKVG CTNIAYPTLV VELMPNGLRG LMLSVMLASL MSSLTSIFNS
410 420 430 440 450
ASTLFTMDIY AKVRKRASEK ELMIAGRLFI LVLIGISIAW VPIVQSAQSG
460 470 480 490 500
QLFDYIQSIT SYLGPPIAAV FLLAIFWKRV NEPGAFWGLI LGLLIGISRM
510 520 530 540 550
ITEFAYGTGS CMEPSNCPTI ICGVHYLYFA IILFAISFIT IVVISLLTKP
560 570 580 590 600
IPDVHLYRLC WSLRNSKEER IDLDAEEENI QEGPKETIEI ETQVPEKKKG
610 620 630 640 650
IFRRAYDLFC GLEQHGAPKM TEEEEKAMKM KMTDTSEKPL WRTVLNVNGI
660
ILVTVAVFCH AYFA
Length:664
Mass (Da):73,498
Last modified:January 1, 1990 - v1
Checksum:i2B403376595EAB74
GO
Isoform 2 (identifier: P13866-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-127: Missing.

Note: No experimental confirmation available.

Show »
Length:537
Mass (Da):60,097
Checksum:iF7B5A898E54C9476
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti631 – 6311K → R in BAH14555. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281D → G in GGM. 1 Publication
VAR_013630
Natural varianti28 – 281D → N in GGM. 1 Publication
VAR_007168
Natural varianti51 – 511N → S.
Corresponds to variant rs17683011 [ dbSNP | Ensembl ].
VAR_029147
Natural varianti135 – 1351R → W in GGM; loss of activity. 1 Publication
VAR_021502
Natural varianti318 – 3181G → R in GGM. 1 Publication
VAR_021503
Natural varianti411 – 4111A → T.
Corresponds to variant rs17683430 [ dbSNP | Ensembl ].
VAR_029148
Natural varianti468 – 4681A → V in GGM. 1 Publication
VAR_021504

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 127127Missing in isoform 2. 1 PublicationVSP_044782Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M24847 mRNA. Translation: AAA60320.1.
L29339
, L29328, L29330, L29329, L29331, L29332, L29333, L29334, L29335, L29336, L29337, L29338 Genomic DNA. Translation: AAB59448.1.
CR456579 mRNA. Translation: CAG30465.1.
AK297665 mRNA. Translation: BAH12645.1.
AK312948 mRNA. Translation: BAG35789.1.
AK316184 mRNA. Translation: BAH14555.1.
AL022321
, Z74021, Z80998, Z83839, Z83849 Genomic DNA. Translation: CAI19810.1.
Z74021
, AL022321, Z80998, Z83839, Z83849 Genomic DNA. Translation: CAI18756.1.
Z80998
, AL022321, Z74021, Z83839, Z83849 Genomic DNA. Translation: CAI18759.1.
Z83839
, AL022321, Z74021, Z80998, Z83849 Genomic DNA. Translation: CAB06087.1.
Z83849
, AL022321, Z74021, Z80998, Z83839 Genomic DNA. Translation: CAI23589.1.
CH471095 Genomic DNA. Translation: EAW60006.1.
CCDSiCCDS13902.1. [P13866-1]
CCDS58805.1. [P13866-2]
PIRiA33545.
RefSeqiNP_000334.1. NM_000343.3. [P13866-1]
NP_001243243.1. NM_001256314.1. [P13866-2]
UniGeneiHs.1964.

Genome annotation databases

EnsembliENST00000266088; ENSP00000266088; ENSG00000100170. [P13866-1]
ENST00000543737; ENSP00000444898; ENSG00000100170. [P13866-2]
GeneIDi6523.
KEGGihsa:6523.
UCSCiuc003amc.3. human. [P13866-1]

Polymorphism databases

DMDMi127803.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M24847 mRNA. Translation: AAA60320.1 .
L29339
, L29328 , L29330 , L29329 , L29331 , L29332 , L29333 , L29334 , L29335 , L29336 , L29337 , L29338 Genomic DNA. Translation: AAB59448.1 .
CR456579 mRNA. Translation: CAG30465.1 .
AK297665 mRNA. Translation: BAH12645.1 .
AK312948 mRNA. Translation: BAG35789.1 .
AK316184 mRNA. Translation: BAH14555.1 .
AL022321
, Z74021 , Z80998 , Z83839 , Z83849 Genomic DNA. Translation: CAI19810.1 .
Z74021
, AL022321 , Z80998 , Z83839 , Z83849 Genomic DNA. Translation: CAI18756.1 .
Z80998
, AL022321 , Z74021 , Z83839 , Z83849 Genomic DNA. Translation: CAI18759.1 .
Z83839
, AL022321 , Z74021 , Z80998 , Z83849 Genomic DNA. Translation: CAB06087.1 .
Z83849
, AL022321 , Z74021 , Z80998 , Z83839 Genomic DNA. Translation: CAI23589.1 .
CH471095 Genomic DNA. Translation: EAW60006.1 .
CCDSi CCDS13902.1. [P13866-1 ]
CCDS58805.1. [P13866-2 ]
PIRi A33545.
RefSeqi NP_000334.1. NM_000343.3. [P13866-1 ]
NP_001243243.1. NM_001256314.1. [P13866-2 ]
UniGenei Hs.1964.

3D structure databases

ProteinModelPortali P13866.
SMRi P13866. Positions 28-490.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112414. 2 interactions.
IntActi P13866. 1 interaction.
STRINGi 9606.ENSP00000266088.

Chemistry

BindingDBi P13866.
ChEMBLi CHEMBL4979.
DrugBanki DB08907. Canagliflozin.
GuidetoPHARMACOLOGYi 915.

Protein family/group databases

TCDBi 2.A.21.3.1. the solute:sodium symporter (sss) family.

PTM databases

PhosphoSitei P13866.

Polymorphism databases

DMDMi 127803.

Proteomic databases

MaxQBi P13866.
PaxDbi P13866.
PRIDEi P13866.

Protocols and materials databases

DNASUi 6523.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000266088 ; ENSP00000266088 ; ENSG00000100170 . [P13866-1 ]
ENST00000543737 ; ENSP00000444898 ; ENSG00000100170 . [P13866-2 ]
GeneIDi 6523.
KEGGi hsa:6523.
UCSCi uc003amc.3. human. [P13866-1 ]

Organism-specific databases

CTDi 6523.
GeneCardsi GC22P032439.
HGNCi HGNC:11036. SLC5A1.
HPAi CAB015467.
HPA051805.
MIMi 182380. gene.
606824. phenotype.
neXtProti NX_P13866.
Orphaneti 35710. Glucose-galactose malabsorption.
PharmGKBi PA308.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG4146.
GeneTreei ENSGT00760000118955.
HOVERGENi HBG052859.
InParanoidi P13866.
KOi K14158.
OMAi EMVKMGR.
OrthoDBi EOG77126J.
PhylomeDBi P13866.
TreeFami TF352855.

Enzyme and pathway databases

Reactomei REACT_19165. Na+-dependent glucose transporters.
REACT_19188. Inositol transporters.
REACT_9441. Hexose transport.

Miscellaneous databases

GeneWikii SLC5A1.
GenomeRNAii 6523.
NextBioi 25375.
PROi P13866.
SOURCEi Search...

Gene expression databases

Bgeei P13866.
CleanExi HS_SLC5A1.
ExpressionAtlasi P13866. baseline and differential.
Genevestigatori P13866.

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. "Homology of the human intestinal Na+/glucose and Escherichia coli Na+/proline cotransporters."
    Hediger M.A., Turk E., Wright E.M.
    Proc. Natl. Acad. Sci. U.S.A. 86:5748-5752(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Structure of the human Na+/glucose cotransporter gene SGLT1."
    Turk E., Martin M.G., Wright E.M.
    J. Biol. Chem. 269:15204-15209(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GGM GLY-28.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Heart and Trachea.
  5. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "Membrane topology of the human Na+/glucose cotransporter SGLT1."
    Turk E., Kerner C.J., Lostao M.P., Wright E.M.
    J. Biol. Chem. 271:1925-1934(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: TOPOLOGY, MUTAGENESIS OF ASN-248, GLYCOSYLATION AT ASN-248.
  8. "Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter."
    Turk E., Zabel B., Mundlos S., Dyer J., Wright E.M.
    Nature 350:354-356(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GGM ASN-28.
  9. "Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects."
    Lam J.T., Martin M.G., Turk E., Hirayama B.A., Bosshard N.U., Steinmann B., Wright E.M.
    Biochim. Biophys. Acta 1453:297-303(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GGM ARG-318 AND VAL-468.
  10. "A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein."
    Kasahara M., Maeda M., Hayashi S., Mori Y., Abe T.
    Biochim. Biophys. Acta 1536:141-147(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GGM TRP-135.

Entry informationi

Entry nameiSC5A1_HUMAN
AccessioniPrimary (citable) accession number: P13866
Secondary accession number(s): B2R7E2, B7Z4Q9, B7ZA69
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 1, 1990
Last modified: October 29, 2014
This is version 153 of the entry and version 1 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 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. 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

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