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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC52A1 Gene

protein-coding GIFtS: 44
GCID: GC17M004936

solute carrier family 52, riboflavin transporter, member...

(Previous name: G protein-coupled receptor 172B )
(Previous symbol: GPR172B)

Explore 1 disease affiliated with
SLC52A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 52, Riboflavin Transporter, Member 1¹ ²		RFT1² ³
GPR172B¹ ² ³ ⁵		PERV-A Receptor 2² ³
PAR2¹ ² ³ ⁵		FLJ10060¹ ⁵
HRFT1¹		RBFVD²
GPCR42¹ ² ⁵		G-Protein Coupled Receptor GPCR42²
RFVT1¹ ²		Protein GPR172B³
G Protein-Coupled Receptor 172B¹ ²		Riboflavin Transporter 1³
Porcine Endogenous Retrovirus A Receptor 2² ³

External Ids:	HGNC: 30225¹	Entrez Gene: 55065²	Ensembl: ENSG00000132517⁷	OMIM: 607883⁵	UniProtKB: Q9NWF4³

Export aliases for SLC52A1 gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC52A1:

Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin

adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member

of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin

deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. (provided by

RefSeq, Jan 2013)

UniProtKB/Swiss-Prot: S52A1_HUMAN, Q9NWF4

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for SLC52A1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC52A1 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC52A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC52A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.2 Ensembl cytogenetic band: 17p13.2 HGNC cytogenetic band: 17p13.3

SLC52A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC52A1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M004936: view genomic region (about GC identifiers)

Start:	4,935,895 bp from pter	End:	4,955,304 bp from pter
Size:	19,410 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S52A1_HUMAN, Q9NWF4 (See protein sequence)

Recommended Name: Solute carrier family 52, riboflavin transporter, member 1

Size: 448 amino acids; 46317 Da

Subcellular location: Cell membrane; Multi-pass membrane protein

Secondary accessions: B5MEV1 B5MEV2 Q6P9E0 Q86UT0

Alternative splicing: 2 isoforms: Q9NWF4-1 Q9NWF4-2 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for SLC52A1: NX_Q9NWF4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NWF4

SLC52A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001098047.1 NP_060456.3

ENSEMBL proteins:

ENSP00000254853 ENSP00000443026 ENSP00000399979

Human Recombinant Protein Products:

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	Novus Biologicals SLC52A1 Protein Novus Biologicals SLC52A1 Lysates
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	Uscn Proteins for SLC52A1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	IDA	--

SLC52A1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC52A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC52A1 for domains About GeneDecksing

1 InterPro domain/family:

IPR009357 Endogenous_retrovirus_rcpt

Graphical View of Domain Structure for InterPro Entry Q9NWF4

ProtoNet protein and cluster: Q9NWF4

UniProtKB/Swiss-Prot: S52A1_HUMAN, Q9NWF4

Similarity: Belongs to the riboflavin transporter family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: S52A1_HUMAN, Q9NWF4

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)

Biophysicochemical properties: Kinetic parameters: KM=1.38 uM for riboflavin;

miRNA Products:		miRTarBase miRNAs that target SLC52A1: hsa-mir-16 (MIRT001422), hsa-mir-1 (MIRT001338)

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC52A1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0032217	riboflavin transporter activity	IDA	--

SLC52A1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for SLC52A1:

Decreased POU5F1-GFP protein e

Decreased Salmonella enterica

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SLC52A1

1 Interacting protein for SLC52A1 (Q9NWF4³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLA2G4A	P47712³	I2D: score=1

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0032218	riboflavin transport	IDA	--

SLC52A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC52A1
Search CenterWatch for drugs/clinical trials and news about SLC52A1 / S52A1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC52A1 gene (2 alternative transcripts):

NM_001104577.1 NM_017986.3

Unigene Cluster for SLC52A1:

Solute carrier family 52, riboflavin transporter, member 1

Hs.632247 [show with all ESTs]

Unigene Representative Sequence: AK123566

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000254853 ENST00000573674(uc010ckw.3) ENST00000512825(uc010ckx.3)

ENST00000575919 ENST00000424747(uc002gap.4 uc002gao.4)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SLC52A1 Browse OriGene MicroRNA Expression Plasmids
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Additional cDNA sequence:

AB362533.1 AB362534.1 AK000922.1 AK123566.1 AY070775.1 BC060810.1 BC092473.1

4 DOTS entries:

DT.100777299 DT.100777298 DT.101976417 DT.100706422

24/36 AceView cDNA sequences (see all 36):

CR617996 W88426 CB994183 AK000922 AY070775 AA584364 CB994020 CB995532

CB995258 BX105196 CB959884 BU752646 AK023570 CB997888 BX359558 BQ007381

AU136797 BX398125 AK123566 BX359993 CF780882 BX397457 AU117441 BX380450

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC52A1 About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3a	·	3b	^	4	^	5
SP1:					-
SP2:

ECgene alternative splicing isoforms for SLC52A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC52A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAGGCCAGG

About this image
See SLC52A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC52A1

SOURCE GeneReport for Unigene cluster: Hs.632247

UniProtKB/Swiss-Prot: S52A1_HUMAN, Q9NWF4

Tissue specificity: Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower

level in other tissues

SABiosciences Custom PCR Arrays for SLC52A1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC52A1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SLC52A1 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	--	--	54(a)	1 → many	GL344487.1(1718-6485)
African clawed frog (Xenopus laevis)	Amphibia	Xl.6678²	Xenopus laevis transcribed sequence with weak similarity more	80.27(n)		BJ059115.1
zebrafish (Danio rerio)	Actinopterygii	wufc11c06²	wufc11c06	71.95(n)		323832 BC055241.1
fruit fly (Drosophila melanogaster)	Insecta	CG11576⁶	--	30(a)	1 → many	3R(27632588-27635907)
worm (Caenorhabditis elegans)	Secernentea	Y47D7A.16⁶ Y47D7A.14⁶	Protein Y47D7A.14, isoform a	31(a) 27(a)	many ↔ many many ↔ many	V(4438954-4443158) V(4443059-4450541)

ENSEMBL Gene Tree for SLC52A1 (if available)
TreeFam Gene Tree for SLC52A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC52A1 gene

SLC52A2² SLC52A3²

3 SIMAP similar genes for SLC52A1 using alignment to 2 protein entries: S52A1_HUMAN (see all proteins):

GPCR SLC52A2 SLC52A3

SLC52A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181343507^1,2		--	4935403(+)	`GGTTTC/GCTTTA`	2	--	ds500¹		0	--	--	--	--
rs185938211^1,2		--	4935480(+)	`CGCGGC/TGGCTC`	2	--	ds500¹		0	--	--	--	--
rs141271165^1,2		--	4935492(+)	`CGCCTA/GTAATC`	2	--	ds500¹		0	--	--	--	--
rs146929851^1,2		--	4935513(+)	`GGGAGG/TCCAAG`	2	--	ds500¹		0	--	--	--	--
rs113157391^1,2	C,	--	4935553(+)	`GACCAT/GCCTGA`	2	--	ds500¹		1		WA	2
rs201621154^1,2		--	4935572(+)	`TGAAA-/CCCCCC`	2	--	ds500¹		0	--	--	--	--
rs111675749^1,2		--	4935578(+)	`CCCCCC/TGTCTC`	2	--	ds500¹		1		CSA	2
rs112386020^1,2		--	4935602(+)	`AAATTT/AGCCGG`	2	--	ds500¹		1		CSA	2
rs34556430^1,2	C,F,	--	4935607(+)	`AGCCGG/ATCGTG`	2	--	ds500¹		3		NA	6
rs346820^1,2	C,F,O,A,H,	--	4935832(-)	`GCTTAC/TCTCTT`	2	--	ds500¹		27		MN NS EA NA WA CSA	2511

HapMap Linkage Disequilibrium report for SLC52A1 (4935895 - 4955304 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SLC52A1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC52A1

DNA2.0 Custom Variant and Variant Library Synthesis for SLC52A1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC52A1 for disorders About GeneDecksing

OMIM gene information: 607883 OMIM disorders: --

UniProtKB/Swiss-Prot: S52A1_HUMAN, Q9NWF4

Note=Haploinsufficiency in SLC52A1 can cause maternal riboflavin deficiency. In the newborn infant, this can

lead to a transient riboflavin-responsive disorder with clinical and biochemical features of multiple acyl-CoA

dehydrogenase deficiency

1 disease for SLC52A1: About MalaCards

acyl-coa dehydrogenase

Export disorders for SLC52A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SLC52A1 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with SLC52A1)

Utopia: connect your pdf to the dynamic
world of online information

Identification of receptors for pig endogenous retrovirus. (PubMed id 12740431)^{1, 2, 3, 9} Ericsson T.A.... Patience C. (2003)
Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1. (PubMed id 18632736)^{1, 2, 3} Yonezawa A.... Inui K. (2008)
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. (PubMed id 21089064)^{1, 2} Ho G.... Christodoulou J. (2011)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Binding of transcription factor activating protein 2 g on the 5'-proximal promoter region of human porcine endogenous retrovirus subgr oup A receptor 2/GPR172B. (PubMed id 22702469)¹ Nakaya Y....Miyazawa T. (2012)
Identification and comparative functional characteriz ation of a new human riboflavin transporter hRFT3 expressed in the brain. (PubMed id 20463145)² Yao Y....Inui K. (2010)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)
Identification of G protein-coupled receptor genes from the human genome sequence. (PubMed id 12044878)¹ Takeda S.... Mitaku S. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 55065	HGNC: 30225	AceView: GPR172B	Ensembl:ENSG00000132517	euGenes: HUgn55065
ECgene: SLC52A1	H-InvDB: SLC52A1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SLC52A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC52A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SLC52A1 gene:
Search GeneIP for patents involving SLC52A1

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
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SLC52A1 Gene

solute carrier family 52, riboflavin transporter, member...

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SLC52A1 Gene

solute carrier family 52, riboflavin transporter, member...

Aliasesfor SLC52A1 gene

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for SLC52A1 gene

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Expression
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Intellectual Property
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