• Gene id: 6523

Gene Summary

• Gene Symbol: SLC5A1   Gene   UCSC   Ensembl
• Aliases: D22S675, NAGT, SGLT1
• Gene name: solute carrier family 5 member 1
• Alternate names: sodium/glucose cotransporter 1, Na+/glucose cotransporter 1, high affinity sodium-glucose cotransporter, solute carrier family 5 (sodium/glucose cotransporter), member 1,
• Gene location: 22q12.3 (32043049: 32113028)     Exons: 16     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associa
• OMIM: 617209

Protein Summary

• Protein general information: P13866  
  • Name: Sodium/glucose cotransporter 1 (Na(+)/glucose cotransporter 1) (High affinity sodium glucose cotransporter) (Solute carrier family 5 member 1)
  • Length: 664  
  • Mass: 73498
  • Tissue specificity: Expressed mainly in intestine and kidney.
• Sequence:

  MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFLAGRSMVWWPIGASLF
  ASNIGSGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIYIKAGVVTMPEYLRKRFGGQRIQVYLSLLSL
  LLYIFTKISADIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHE
  VGGYDAFMEKYMKAIPTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQR
  CLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYPTLVVELMP
  NGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYAKVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSAQSG
  QLFDYIQSITSYLGPPIAAVFLLAIFWKRVNEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVH
  YLYFAIILFAISFITIVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKG
  IFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCHAYFA

• Structural information:
  • Interpro: IPR038377  IPR001734  IPR018212  
  • Prosite: PS00456 PS00457 PS50283
  • STRING: ENSP00000266088
• Other Databases: GeneCards:  SLC5A1  Malacards:  SLC5A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005412	glucose:sodium symporter activity	IDA	molecular function
GO:1904659	glucose transmembrane transport	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0008643	carbohydrate transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0098708	glucose import across plasma membrane	IDA	biological process
GO:1902476	chloride transmembrane transport	IDA	NOT|biological process
GO:0098719	sodium ion import across plasma membrane	IDA	biological process
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0098708	glucose import across plasma membrane	IDA	biological process
GO:0035377	transepithelial water transport	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005412	glucose:sodium symporter activity	IDA	molecular function
GO:0055056	D-glucose transmembrane transporter activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005355	glucose transmembrane transporter activity	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0015151	alpha-glucoside transmembrane transporter activity	IDA	molecular function
GO:0005354	galactose transmembrane transporter activity	ISS	molecular function
GO:0005367	myo-inositol:sodium symporter activity	ISS	molecular function
GO:0000017	alpha-glucoside transport	IDA	biological process
GO:0015146	pentose transmembrane transporter activity	ISS	molecular function
GO:0010035	response to inorganic substance	IDA	biological process
GO:0015150	fucose transmembrane transporter activity	ISS	molecular function
GO:0015151	alpha-glucoside transmembrane transporter activity	IMP	molecular function
GO:0015151	alpha-glucoside transmembrane transporter activity	ISS	molecular function
GO:0043229	intracellular organelle	ISS	cellular component
GO:0097708	intracellular vesicle	TAS	cellular component
GO:0098708	glucose import across plasma membrane	IGI	biological process
GO:0150104	transport across blood-brain barrier	IGI	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0015750	pentose transmembrane transport	ISS	biological process
GO:0015756	fucose transmembrane transport	ISS	biological process
GO:0015757	galactose transmembrane transport	ISS	biological process
GO:0015798	myo-inositol transport	ISS	biological process
GO:0000017	alpha-glucoside transport	IMP	biological process
GO:0000017	alpha-glucoside transport	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0031526	brush border membrane	ISS	cellular component
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IBA	biological process
GO:0005412	glucose:sodium symporter activity	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005412	glucose:sodium symporter activity	IDA	molecular function
GO:1904659	glucose transmembrane transport	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0106001	intestinal hexose absorption	TAS	biological process
GO:0005412	glucose:sodium symporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005412	glucose:sodium symporter activity	IEA	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04978	Mineral absorption
hsa04976	Bile secretion
hsa04973	Carbohydrate digestion and absorption

Diseases

Associated diseases	References
Congenital glucose-galactose malabsorption	KEGG:H01261
Congenital glucose-galactose malabsorption	KEGG:H01261
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq