Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6523
Gene name	Solute carrier family 5 member 1
Gene symbol	SLC5A1
Synonyms (NCBI Gene)	D22S675NAGTSGLT-1SGLT1
Chromosome	22
Chromosome location	22q12.3
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 associa

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912668	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs121912669	A>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs201799893	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs774651252	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs779502629	C>T	Pathogenic	Coding sequence variant, stop gained
rs1455367784	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant

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Show/Hide all (110)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018696	hsa-miR-335-5p	Microarray	18185580
MIRT1365357	hsa-miR-1	CLIP-seq
MIRT1365358	hsa-miR-1299	CLIP-seq
MIRT1365359	hsa-miR-134	CLIP-seq
MIRT1365360	hsa-miR-206	CLIP-seq
MIRT1365361	hsa-miR-3118	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT1365363	hsa-miR-3164	CLIP-seq
MIRT1365364	hsa-miR-3668	CLIP-seq
MIRT1365365	hsa-miR-3673	CLIP-seq
MIRT1365366	hsa-miR-3914	CLIP-seq
MIRT1365367	hsa-miR-3919	CLIP-seq
MIRT1365368	hsa-miR-3928	CLIP-seq
MIRT1365369	hsa-miR-432	CLIP-seq
MIRT1365370	hsa-miR-4436b-5p	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT1365372	hsa-miR-4443	CLIP-seq
MIRT1365373	hsa-miR-4450	CLIP-seq
MIRT1365374	hsa-miR-4481	CLIP-seq
MIRT1365375	hsa-miR-4501	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1365377	hsa-miR-4745-5p	CLIP-seq
MIRT1365378	hsa-miR-4756-3p	CLIP-seq
MIRT1365379	hsa-miR-4758-5p	CLIP-seq
MIRT1365380	hsa-miR-4764-5p	CLIP-seq
MIRT1365381	hsa-miR-4782-5p	CLIP-seq
MIRT1365382	hsa-miR-516b	CLIP-seq
MIRT1365383	hsa-miR-613	CLIP-seq
MIRT1365384	hsa-miR-765	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT1553802	hsa-miR-323b-3p	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1553803	hsa-miR-4517	CLIP-seq
MIRT1365358	hsa-miR-1299	CLIP-seq
MIRT1365359	hsa-miR-134	CLIP-seq
MIRT1365361	hsa-miR-3118	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT1365363	hsa-miR-3164	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT1365374	hsa-miR-4481	CLIP-seq
MIRT1365375	hsa-miR-4501	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1365377	hsa-miR-4745-5p	CLIP-seq
MIRT1365379	hsa-miR-4758-5p	CLIP-seq
MIRT1365380	hsa-miR-4764-5p	CLIP-seq
MIRT1365381	hsa-miR-4782-5p	CLIP-seq
MIRT1365382	hsa-miR-516b	CLIP-seq
MIRT1365358	hsa-miR-1299	CLIP-seq
MIRT1365359	hsa-miR-134	CLIP-seq
MIRT2108437	hsa-miR-135a	CLIP-seq
MIRT2108438	hsa-miR-135b	CLIP-seq
MIRT1365361	hsa-miR-3118	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT2108439	hsa-miR-3158-5p	CLIP-seq
MIRT1365363	hsa-miR-3164	CLIP-seq
MIRT2108440	hsa-miR-3192	CLIP-seq
MIRT1553802	hsa-miR-323b-3p	CLIP-seq
MIRT2108441	hsa-miR-3920	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT2108442	hsa-miR-4474-5p	CLIP-seq
MIRT1365374	hsa-miR-4481	CLIP-seq
MIRT1365375	hsa-miR-4501	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1553803	hsa-miR-4517	CLIP-seq
MIRT2108443	hsa-miR-4643	CLIP-seq
MIRT2108444	hsa-miR-4717-3p	CLIP-seq
MIRT1365377	hsa-miR-4745-5p	CLIP-seq
MIRT1365379	hsa-miR-4758-5p	CLIP-seq
MIRT2108445	hsa-miR-4762-3p	CLIP-seq
MIRT1365380	hsa-miR-4764-5p	CLIP-seq
MIRT1365381	hsa-miR-4782-5p	CLIP-seq
MIRT2108446	hsa-miR-514	CLIP-seq
MIRT2108447	hsa-miR-514b-3p	CLIP-seq
MIRT1365382	hsa-miR-516b	CLIP-seq
MIRT2108437	hsa-miR-135a	CLIP-seq
MIRT2108438	hsa-miR-135b	CLIP-seq
MIRT2332176	hsa-miR-2113	CLIP-seq
MIRT2108441	hsa-miR-3920	CLIP-seq
MIRT2332177	hsa-miR-3925-3p	CLIP-seq
MIRT2332178	hsa-miR-3941	CLIP-seq
MIRT2108442	hsa-miR-4474-5p	CLIP-seq
MIRT2108443	hsa-miR-4643	CLIP-seq
MIRT2332179	hsa-miR-466	CLIP-seq
MIRT2332180	hsa-miR-4672	CLIP-seq
MIRT2332181	hsa-miR-4677-3p	CLIP-seq
MIRT2332182	hsa-miR-4679	CLIP-seq
MIRT2332183	hsa-miR-4712-5p	CLIP-seq
MIRT2108444	hsa-miR-4717-3p	CLIP-seq
MIRT2332184	hsa-miR-4729	CLIP-seq
MIRT2108445	hsa-miR-4762-3p	CLIP-seq
MIRT2332185	hsa-miR-4789-3p	CLIP-seq
MIRT2332186	hsa-miR-770-5p	CLIP-seq
MIRT1365358	hsa-miR-1299	CLIP-seq
MIRT1365359	hsa-miR-134	CLIP-seq
MIRT1365361	hsa-miR-3118	CLIP-seq
MIRT2394792	hsa-miR-3120-3p	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT1365363	hsa-miR-3164	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT1365374	hsa-miR-4481	CLIP-seq
MIRT1365375	hsa-miR-4501	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1365377	hsa-miR-4745-5p	CLIP-seq
MIRT1365379	hsa-miR-4758-5p	CLIP-seq
MIRT1365380	hsa-miR-4764-5p	CLIP-seq
MIRT1365381	hsa-miR-4782-5p	CLIP-seq
MIRT1365382	hsa-miR-516b	CLIP-seq
MIRT2394793	hsa-miR-545	CLIP-seq
MIRT2394794	hsa-miR-628-5p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
GATA5	Unknown	18656622
PER1	Repression	22526585

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000017	Process	Alpha-glucoside transport	IDA	20980548
GO:0000017	Process	Alpha-glucoside transport	IMP	17130520
GO:0000017	Process	Alpha-glucoside transport	ISS
GO:0001951	Process	Intestinal D-glucose absorption	ISS
GO:0005354	Function	Galactose transmembrane transporter activity	ISS
GO:0005367	Function	Myo-inositol:sodium symporter activity	ISS
GO:0005372	Function	Water transmembrane transporter activity	IDA	14695256, 26945065, 34880492
GO:0005412	Function	D-glucose:sodium symporter activity	IBA
GO:0005412	Function	D-glucose:sodium symporter activity	IDA	8563765, 8836035, 20980548, 34880492, 35077764
GO:0005412	Function	D-glucose:sodium symporter activity	TAS
GO:0005515	Function	Protein binding	IPI	18455122
GO:0005769	Component	Early endosome	IDA	12773314
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26945065
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8563765
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IBA
GO:0006814	Process	Sodium ion transport	IEA
GO:0015146	Function	Pentose transmembrane transporter activity	ISS
GO:0015150	Function	Fucose transmembrane transporter activity	ISS
GO:0015151	Function	Alpha-glucoside transmembrane transporter activity	IDA	20980548
GO:0015151	Function	Alpha-glucoside transmembrane transporter activity	IMP	17130520
GO:0015151	Function	Alpha-glucoside transmembrane transporter activity	ISS
GO:0015293	Function	Symporter activity	IEA
GO:0015370	Function	Solute:sodium symporter activity	IEA
GO:0015371	Function	Galactose:sodium symporter activity	IDA	34880492, 35077764
GO:0015750	Process	Pentose transmembrane transport	ISS
GO:0015756	Process	Fucose transmembrane transport	ISS
GO:0015757	Process	Galactose transmembrane transport	ISS
GO:0015798	Process	Myo-inositol transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	12773314
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031965	Component	Nuclear membrane	IDA
GO:0035377	Process	Transepithelial water transport	IDA	26945065
GO:0035623	Process	Renal D-glucose absorption	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12773314
GO:0055056	Function	D-glucose transmembrane transporter activity	IDA	20980548, 26945065
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097708	Component	Intracellular vesicle	TAS	14986005
GO:0098708	Process	D-glucose import across plasma membrane	IDA	20980548, 26945065
GO:0098708	Process	D-glucose import across plasma membrane	IGI	23975336
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	20980548
GO:0106001	Process	Intestinal hexose absorption	TAS
GO:0150104	Process	Transport across blood-brain barrier	IGI	23975336
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1902476	Process	Chloride transmembrane transport	IDA	10973981
GO:1904659	Process	D-glucose transmembrane transport	IDA	8836035
GO:1904659	Process	D-glucose transmembrane transport	IMP	8563765

MIM	HGNC	e!Ensembl
182380	11036	ENSG00000100170

P13866

Protein name

Sodium/glucose cotransporter 1 (Na(+)/glucose cotransporter 1) (High affinity sodium-glucose cotransporter) (Solute carrier family 5 member 1)

Protein function

Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose or D-galactose at the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient se

PDB

7SL8 , 7SLA , 7WMV , 7YNI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00474	SSF	58 → 492	Sodium:solute symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in intestine (PubMed:2490366). Expressed in endometrial cells (PubMed:28974690). {ECO:0000269|PubMed:2490366, ECO:0000269|PubMed:28974690}.

Sequence

MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFL
AGRSMVWWPIGASLFASNIGSGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIY
IKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIFINLALGLNLYLA
IFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAI
PTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQR
CLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVG
CTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYAKVRKRASEK
ELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRV
NEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYLYFAIILFAISFIT
IVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKG
IFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCH
AYFA

Sequence length

664

Interactions

View interactions

	KEGG		Reactome
	Carbohydrate digestion and absorption Bile secretion Mineral absorption		Cellular hexose transport Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM) Intestinal hexose absorption

424

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital glucose-galactose malabsorption	Likely pathogenic; Pathogenic	rs2149487756, rs2149492476, rs2149496680, rs764766115, rs765502638, rs927157864, rs2517662048, rs2517673510, rs764819816, rs121912668, rs933026071, rs1203557575, rs200105615, rs774829996, rs2517677261 View all (8 more)	RCV001783772 RCV002028061 RCV001957397 RCV002018577 RCV001918499 RCV002246726 RCV003041411 RCV002851694 RCV003028979 RCV003130922 RCV000013770 RCV005030015 RCV005036786 RCV003627678 RCV003627844 RCV003627993 RCV000312958 RCV000634562 RCV000990426 RCV000990427 RCV000990428 RCV005029289 RCV001250170 RCV001283761
SLC5A1-related disorder	Likely pathogenic; Pathogenic	rs933026071, rs1203557575, rs1046576892, rs200401846, rs779502629	RCV003414526 RCV003391669 RCV003408416 RCV003403455 RCV003411931

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs17683011	RCV005897549
Colorectal cancer	Benign	rs17683011	RCV005897548
Ovarian serous cystadenocarcinoma	Likely benign	rs149444431	RCV005913871
Uterine corpus endometrial carcinoma	Benign	rs17683011	RCV005897550

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Allergic Fungal Sinusitis	Associate	29253858
Anorexia	Associate	28192456
Atherosclerosis	Associate	30286918
Atrophy	Stimulate	9274472
Breast Neoplasms	Associate	32377271
Carcinoma Pancreatic Ductal	Stimulate	35090421
Carcinoma Renal Cell	Associate	37304236
Cardiomyopathy Dilated	Stimulate	32998746
COVID 19	Associate	33254575
Diabetes Mellitus	Stimulate	11804845
Diabetes Mellitus	Associate	30286918, 30291295, 33254575, 35839537, 36585034
Diabetes Mellitus Type 2	Stimulate	11804845
Diabetic Nephropathies	Associate	36314849
Diarrhea	Associate	8195156
Endometrial Neoplasms	Associate	32236143
Glucose Galactose Malabsorption	Associate	10036327, 30286918, 31415402, 34485913, 37510265, 8195156
Glucose Intolerance	Associate	30286918
Gout	Associate	35839537
Heart Failure	Associate	30286918, 30291295
Heart Failure	Stimulate	32998746
Hyperglycemia	Associate	30286918
Hypertrophy	Associate	35334035
Hypophosphatasia	Associate	39519277
Inflammation	Associate	34293101
Kidney Failure Chronic	Associate	32998746
Lymphatic Metastasis	Stimulate	32377271
Malnutrition	Associate	28192456
Myocardial Infarction	Associate	30291295
Nasal Polyps	Associate	29253858
Neoplasms	Associate	18455122, 25788275, 30521176
Neoplasms	Stimulate	27522989, 31199048
Obesity	Associate	24990218, 30286918
Obesity	Stimulate	28811552
Ovarian Neoplasms	Associate	35361267
Pancreatic Neoplasms	Associate	35090421
Perinatal Death	Associate	30286918
Pulmonary Atresia	Associate	31261244
Renal Insufficiency	Associate	36585034
Stomach Neoplasms	Associate	34774990
Triple Negative Breast Neoplasms	Associate	31199048
Uterine Cervical Neoplasms	Associate	23418532
Uterine Diseases	Stimulate	32236143
Vascular Diseases	Associate	29307883

SLC5A1 (solute carrier family 5 member 1)