Version 5.4
Homo sapiens Protein: SLC52A1
Summary
InnateDB Protein IDBP-20916.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC52A1
Protein Name G protein-coupled receptor 172B
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000254853
InnateDB Gene IDBG-20914 (SLC52A1)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:18632736, ECO:0000269PubMed:20463145}; Multi-pass membrane protein {ECO:0000269PubMed:18632736, ECO:0000269PubMed:20463145}.
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.
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}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0001618 virus receptor activity
GO:0032217 riboflavin transporter activity
Biological Process
GO:0009615 response to virus
GO:0032218 riboflavin transport
Cellular Component
GO:0005887 integral component of plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR009357 Endogenous retrovirus receptor
PFAM PF06237
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NWF4
PhosphoSite PhosphoSite-Q9NWF4
TrEMBL
UniProt Splice Variant
Entrez Gene 55065
UniGene Hs.632247
RefSeq NP_060456
HUGO HGNC:30225
OMIM 607883
CCDS CCDS11066
HPRD 07432
IMGT
EMBL AB362533 AB362534 AC012146 AK000922 AY070775 BC060810 BC092473 CH471108
GenPept AAH60810 AAH92473 AAL59883 BAA91427 BAG71128 BAG71129 EAW90363 EAW90364

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca