InnateDB Protein
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IDBP-363592.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC52A1
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Protein Name
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G protein-coupled receptor 172B
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000399979
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InnateDB Gene
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IDBG-20914 (SLC52A1)
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Protein Structure
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Function |
Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A). {ECO:0000269PubMed:12740431, ECO:0000269PubMed:20463145}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:18632736, ECO:0000269PubMed:20463145}; Multi-pass membrane protein {ECO:0000269PubMed:18632736, ECO:0000269PubMed:20463145}.
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Disease Associations |
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:0000269PubMed:21089064}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower level in other tissues. {ECO:0000269PubMed:12740431, ECO:0000269PubMed:18632736, ECO:0000269PubMed:20463145}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009357
Endogenous retrovirus receptor
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PFAM |
PF06237
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NWF4
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PhosphoSite |
PhosphoSite-Q9NWF4
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55065
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UniGene |
Hs.632247
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RefSeq |
NP_001098047
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HUGO |
HGNC:30225
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OMIM |
607883
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CCDS |
CCDS11066
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HPRD |
07432
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IMGT |
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EMBL |
AB362533
AB362534
AC012146
AK000922
AY070775
BC060810
BC092473
CH471108
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GenPept |
AAH60810
AAH92473
AAL59883
BAA91427
BAG71128
BAG71129
EAW90363
EAW90364
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