SLC5A1 - solute carrier family 5 member 1 Gene

Also Known as NAGT; SGLT1; D22S675

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6523

About SLC5A1

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:32,043,261-32,113,029 (from NCBI)

This gene has 4 transcripts (splice variants), 248 orthologues, 11 paralogues and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 262.7), small intestine (RPKM 154.2) and 1 other tissue.

Summary

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 associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

SLC5A1 Products (3)

mRNA	Protein	Name
XM_011530331.2	XP_011528633.1	sodium/glucose cotransporter 1 isoform X1
NM_001256314.2	NP_001243243.1	sodium/glucose cotransporter 1 isoform 2
NM_000343.4	NP_000334.1	sodium/glucose cotransporter 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables D-glucose transmembrane transporter activity	IDA IDA: Inferred from direct assay	20980548	GOA
enables D-glucose:sodium symporter activity	IDA IDA: Inferred from direct assay	8563765	GOA
enables alpha-glucoside transmembrane transporter activity	IDA IDA: Inferred from direct assay	20980548	GOA
enables alpha-glucoside transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	17130520	GOA
enables galactose:sodium symporter activity	IDA IDA: Inferred from direct assay	34880492	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18455122	GOA
enables water transmembrane transporter activity	IDA IDA: Inferred from direct assay	14695256	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in D-glucose import across plasma membrane	IDA IDA: Inferred from direct assay	20980548	GOA
involved in D-glucose import across plasma membrane	IGI IGI: Inferred from genetic interaction	23975336	GOA
involved in D-glucose transmembrane transport	IDA IDA: Inferred from direct assay	8836035	GOA
acts upstream of or within D-glucose transmembrane transport	IMP IMP: Inferred from mutant phenotype	8563765	GOA
involved in alpha-glucoside transport	IDA IDA: Inferred from direct assay	20980548	GOA
involved in alpha-glucoside transport	IMP IMP: Inferred from mutant phenotype	17130520	GOA
NOT involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	10973981	GOA
involved in sodium ion import across plasma membrane	IDA IDA: Inferred from direct assay	20980548	GOA
involved in transepithelial water transport	IDA IDA: Inferred from direct assay	26945065	GOA
involved in transport across blood-brain barrier	IGI IGI: Inferred from genetic interaction	23975336	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in apical plasma membrane	IDA IDA: Inferred from direct assay	12773314	GOA
located in early endosome	IDA IDA: Inferred from direct assay	12773314	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	12773314	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26945065	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC5A1 Protein Structure

SSF

0
200
400
600
664 a.a.

Protein Preferred Names	Protein Names
sodium/glucose cotransporter 1	Na+/glucose cotransporter 1 high affinity sodium-glucose cotransporter solute carrier family 5 (sodium/glucose cotransporter), member 1

SLC5A1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SLC5A1	P13866	EGFR	Homo sapiens	P00533	Anti Tag CoIP	18455122
Intra	SLC5A1	P13866	EGFR	Homo sapiens	P00533	Anti Bait CoIP	18455122

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Hyperglycemia
Glucose/Galactose Malabsorption	Glucose-Galactose Malabsorption GGM Congenital Glucose-Galactose Malabsorption Monosaccharide Malabsorption Complex Carbohydrate Intolerance Carbohydrate Intolerance Sglt1 Deficiency Congenital Monosaccharide Malabsorption Gm Carbohydrate Intolerance Of Glucose Galactose Glucose Galactose Malabsorption Deficiency Congenital Glucose-Galactose Intolerance Congenital Glucose/Galactose Malabsorption Malabsorption, Glucose-Galactose
Pancreatic Colloid Cystadenoma	Mucinous Cystadenoma Of Pancreas
Sucrase-Isomaltase Deficiency, Congenital	Congenital Sucrase-Isomaltase Deficiency CSID Si Deficiency Congenital Sucrose Intolerance Disaccharide Intolerance Sucrase-Isomaltase Deficiency Disaccharide Intolerance I Congenital Sucrose-Isomaltose Malabsorption Sucrose-Isomaltose Malabsorption, Congenital Sucrose Intolerance, Congenital Congenital Sucrase-Isomaltose Malabsorption Congenital Sucrose-Isomaltase Malabsorption Disaccharide Intolerance, 1 Sucrose Intolerance Congenital Sucrose-Isomaltase Malabsorption, Congenital Disaccharidase Deficiency Invertase Deficiency Sucrase-Alpha-Dextrinase Deficiency Disaccharide Intolerance Type I Csid - [Congenital Sucrase-Isomaltase Deficiency] Sucrose Intolerance Of Newborn Sucrose Intolerance Sucrase Deficiency Disaccharide Malabsorption Intestinal Disaccharidase Deficiency
Lactase Deficiency, Congenital	Congenital Lactase Deficiency Disaccharide Intolerance Ii Congenital Alactasia Congenital Alactasia Syndrome Congenital Lactose Intolerance Congenital Lactose Malabsorption Hereditary Alactasia Alactasia, Congenital Cld COLACD Disaccharide Intolerance Type 2 Cld - [Congenital Lactase Deficiency] Disaccharide Intolerance 2 Lactose Intolerance Of Newborn Hereditary Lactase Deficiency
Meckel Diverticulum	Meckel'S Diverticulum Persistent Vitelline Duct
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Obesity , Susceptibility To Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Diabetes Mellitus, Ketosis-Prone	Diabetic Ketoacidosis KPD Diabetes Mellitus, Ketosis-Prone, Susceptibility To Ketosis-Prone Diabetes Mellitus Diabetes Mellitus, Insulin-Dependent Diabetic Ketoacidosis Nos Dka - [Diabetic Ketoacidosis] Nos Dka - [Diabetic Ketoacidosis] Without Coma Dka - [Diabetic Ketoacidosis] With Coma
Secretory Diarrhea
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Congenital Microvillus Atrophy Microvillous Inclusion Disease Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Renal Glucosuria	Renal Glycosuria Familial Renal Glucosuria Glycosuria, Renal GLYS Glys1 Glucosuria, Renal Renal Diabetes Familial Renal Glycosuria Sglt2 Deficiency Gly Diabetes Renal
Balanitis
Vulvovaginitis	Vulvo-Vaginitis
Osmotic Diarrhea
Lactose Intolerance	Lactose Malabsorption Lm - Lactose Malabsorption Alactasia Dairy Product Intolerance Hypolactasia Milk Sugar Intolerance Cow Milk Enteropathy Intolerance Or Malabsorption Of Lactose Lm - [Lactose Malabsorption] Milk Intolerance
Fanconi-Like Syndrome	Fanconi Like Syndrome
Chylomicron Retention Disease	CMRD Anderson Disease Lipid Transport Defect Of Intestine Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells Andd Anderson Syndrome Crd Andersons Disease Malabsorption Syndrome
Adermatoglyphia	ADERM Immigration Delay Disease Absence Of Fingerprints Adg Congenital Absence Of Fingerprints Isolated Congenital Adermatoglyphia Fingerprints, Absence Of Skin Abnormalities
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Diabetes Mellitus, Non-Insulin-Dependent Type 2 Diabetes T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Balanoposthitis	Balanitis Due To Infection
Urinary Tract Infection	Urinary Tract Infections Uti Urinary Tract Infection Nos Uti - [Urinary Tract Infection] Uti Nos - [Urinary Tract Infection Nos] Urosepsis Nos E Coli Uti E Coli Urinary Tract Infection Escherichia Coli Uti

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13280	SLC5A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13281	Slc5a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13282	Slc5a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	SLC5A1	VGNC	VGNC:77609
Rattus norvegicus	SLC5A1	RGD	RGD:3713
Felis catus	SLC5A1	VGNC	VGNC:65398
Bos taurus	SLC5A1	VGNC	VGNC:49970
Mus musculus	SLC5A1	MGD	MGI:107678
Canis familiaris	SLC5A1	VGNC	VGNC:52969
Others	SLC5A1	NCBI