Entity Details

Primary name SLC37A4
Entity type gene
Source Source Link

Details

PrimaryID2542
RefseqGeneNG_013331
SymbolSLC37A4
Namesolute carrier family 37 member 4
Chromosome11
Location11q23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-19
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsG6PT1_HUMAN

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006006 glucose metabolic process
GO:0006094 gluconeogenesis
GO:0008643 carbohydrate transport
GO:0015152 glucose-6-phosphate transmembrane transporter activity
GO:0015760 glucose-6-phosphate transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0035435 phosphate ion transmembrane transport
GO:0042593 glucose homeostasis
GO:0061513 glucose 6-phosphate:inorganic phosphate antiporter activity

Diseases

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Disease IDSourceNameDescription
232240 OMIMGlycogen storage disease 1C (GSD1C)A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. The disease is caused by variants affecting the gene represented in this entry.
232240 OMIMGlycogen storage disease 1C (GSD1C)A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. The disease is caused by variants affecting the gene represented in this entry.
232220 OMIMGlycogen storage disease 1B (GSD1B)A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
SLC37A4BIKBioGRID, IntAct32296183 details
SLC37A4GPR35BioGRID, MINT28298427 details
SLC37A4SHBGBioGRID15862967 details
SLC37A4GLP1RBioGRID28597972 details
SLC37A4TCTN3BioGRID, IntAct26638075 details
SLC37A4PLEKHA4BioGRID31091453 details