1. Gene
  2. SLC5A1 - solute carrier family 5 member 1 Gene

SLC5A1 - solute carrier family 5 member 1 Gene

中文名称:溶质载体家族 5 成员 1

种属: Homo sapiens

同用名: NAGT; SGLT1; D22S675

基因 ID: 6523 | 基因类型: protein coding

关于 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.

功能概要

该基因编码钠依赖性葡萄糖转运蛋白 (SGLT) 家族的成员。编码的整合膜蛋白是从肠腔摄取膳食葡萄糖和半乳糖的主要介质。该基因的突变与葡萄糖-半乳糖吸收不良有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2012 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables D-glucose transmembrane transporter activity IDA
IDA: 通过直接分析推断
20980548 GOA
enables D-glucose:sodium symporter activity IDA
IDA: 通过直接分析推断
8563765 GOA
enables alpha-glucoside transmembrane transporter activity IDA
IDA: 通过直接分析推断
20980548 GOA
enables alpha-glucoside transmembrane transporter activity IMP
IMP: 通过突变表型推断
17130520 GOA
enables galactose:sodium symporter activity IDA
IDA: 通过直接分析推断
34880492 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18455122 GOA
enables water transmembrane transporter activity IDA
IDA: 通过直接分析推断
14695256 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in D-glucose import across plasma membrane IDA
IDA: 通过直接分析推断
20980548 GOA
involved in D-glucose import across plasma membrane IGI
IGI: 通过遗传相互作用推断
23975336 GOA
involved in D-glucose transmembrane transport IDA
IDA: 通过直接分析推断
8836035 GOA
acts upstream of or within D-glucose transmembrane transport IMP
IMP: 通过突变表型推断
8563765 GOA
involved in alpha-glucoside transport IDA
IDA: 通过直接分析推断
20980548 GOA
involved in alpha-glucoside transport IMP
IMP: 通过突变表型推断
17130520 GOA
NOT involved in chloride transmembrane transport IDA
IDA: 通过直接分析推断
10973981 GOA
involved in sodium ion import across plasma membrane IDA
IDA: 通过直接分析推断
20980548 GOA
involved in transepithelial water transport IDA
IDA: 通过直接分析推断
26945065 GOA
involved in transport across blood-brain barrier IGI
IGI: 通过遗传相互作用推断
23975336 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
12773314 GOA
located in early endosome IDA
IDA: 通过直接分析推断
12773314 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
12773314 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
26945065 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC5A1 蛋白结构

SSF

SSF: Sodium:solute symporter family (58 - 492)

  • 0
  • 200
  • 400
  • 600
  • 664 a.a.
蛋白主名 其他名称

sodium/glucose cotransporter 1

Na+/glucose cotransporter 1

high affinity sodium-glucose cotransporter

solute carrier family 5 (sodium/glucose cotransporter), member 1

SLC5A1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SLC5A1 P13866 EGFR Homo sapiens P00533
Anti Tag CoIP
18455122
种属内
SLC5A1 P13866 EGFR Homo sapiens P00533
Anti Bait CoIP
18455122
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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