SLC52A1
entrez
55065
canonical
uniprot
Q9NWF4
canonical
ensembl
ENSG00000132517
resolver
ensp
ENSP00000254853
resolver
ensp
ENSP00000399979
resolver
ensp
ENSP00000564397
resolver
ensp
ENSP00000631649
resolver
genesymbol
SLC52A1
resolver
genesymbol_syn
GPR172B
resolver
genesymbol_syn
PAR2
resolver
genesymbol_syn
RFT1
resolver
hgnc
HGNC:30225
resolver
uniprot
B5MEV1
resolver
uniprot
B5MEV2
resolver
uniprot
Q6P9E0
resolver
uniprot
Q86UT0
resolver
uniprot_entry
S52A1_HUMAN
resolver
uniprot_sec
B5MEV1
resolver
uniprot_sec
B5MEV2
resolver
uniprot_sec
Q6P9E0
resolver
uniprot_sec
Q86UT0
resolver
activity_regulation
ACTIVITY REGULATION: The activity is strongly inhibited by riboflavin analogs, such as lumiflavin (PubMed:18632736, PubMed:20463145). Weakly inhibited by flavin adenine dinucleotide (FAD) (PubMed:18632736, PubMed:20463145). {ECO:0000269|PubMed:18632736, ECO:0000269|PubMed:20463145}.
uniprot
proteins
amino_acid_sequence
MAAPTLGRLVLTHLLVALFGMGSWAAVNGIWVELPVVVKDLPEGWSLPSYLSVVVALGNLGLLVVTLWRQLAPGKGEQVPIQVVQVLSVVGTALLAPLWHHVAPVAGQLHSVAFLTLALVLAMACCTSNVTFLPFLSHLPPPFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPTNGTSGPPLDFPERFPASTFFWALTALLVTSAAAFRGLLLLLPSLPSVTTGGSGPELQLGSPGAEEEEKEEEEALPLQEPPSQAAGTIPGPDPEAHQLFSAHGAFLLGLMAFTSAVTNGVLPSVQSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLVGLSLLGMLFGAYLMALAILSPCPPLVGTTAGVVLVVLSWVLCLCVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSLLGAGAMFPPTSIYHVFQSRKDCVDPCGP
uniprot
proteins
disease_involvement
DISEASE: Riboflavin deficiency (RBFVD) [MIM:615026]: 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. {ECO:0000269|PubMed:21089064}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:18632736, PubMed:20463145). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). {ECO:0000269|PubMed:18632736, ECO:0000269|PubMed:20463145, ECO:0000303|PubMed:20463145}.; FUNCTION: (Microbial infection) May function as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A). {ECO:0000305|PubMed:12740431}.
uniprot
proteins
mass_dalton
46317
uniprot
proteins
protein_family
Riboflavin transporter family
uniprot
proteins
pubmed
12740431
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18632736
uniprot
proteins
pubmed
20463145
uniprot
proteins
pubmed
21089064
uniprot
proteins
pubmed
28190456
uniprot
proteins
sequence_length
448
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12740431, ECO:0000269|PubMed:18632736, ECO:0000269|PubMed:20463145}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 14..34; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 47..67; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 79..99; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 124..144; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 147..167; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 191..211; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 280..300; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 315..335; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 342..362; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 369..389; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 407..427; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins