Entity Details

Primary name SLC52A1
Entity type gene
Source Source Link

Details

PrimaryID55065
RefseqGeneNG_033117
SymbolSLC52A1
Namesolute carrier family 52 member 1
Chromosome17
Location17p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsS52A1_HUMAN

GO terms

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GOName
GO:0001618 virus receptor activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006771 riboflavin metabolic process
GO:0032217 riboflavin transmembrane transporter activity
GO:0032218 riboflavin transport

Diseases

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Disease IDSourceNameDescription
615026 OMIMRiboflavin deficiency (RBFVD)A disorder caused by a primary defect in riboflavin metabolism, or by dietary riboflavin deficiency. Riboflavin deficiency during pregnancy results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels in the newborn. Treatment with oral riboflavin results in complete resolution of the clinical and biochemical findings. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions

InteractorPartnerSourcesPublicationsLink
SLC52A1SGCBBioGRID, IntAct32296183 details
SLC52A1TMEM237BioGRID, IntAct32296183 details
SLC52A1CREB3L1BioGRID, IntAct32296183 details
SLC52A1AQP6BioGRID, IntAct32296183 details
SLC52A1IFNGR2BioGRID, IntAct32296183 details
SLC52A1GJA8BioGRID, IntAct32296183 details
SLC52A1SLC7A1BioGRID, IntAct32296183 details
SLC52A1TMEM179BBioGRID, IntAct32296183 details
SLC52A1SHISAL1BioGRID, IntAct32296183 details