SLC52A1 (solute carrier family 52 member 1)

Gene

• Entrez ID: 55065
• Gene name: Solute carrier family 52 member 1
• Gene symbol: SLC52A1
• Synonyms (NCBI Gene): GPCR42, GPR172B, PAR2, RBFVD, RFT1, RFVT1, hRFT1, huPAR-2
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: 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 (vi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017822	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20463145
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006771	Process	Riboflavin metabolic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0032217	Function	Riboflavin transmembrane transporter activity	IBA
GO:0032217	Function	Riboflavin transmembrane transporter activity	IDA	20463145
GO:0032217	Function	Riboflavin transmembrane transporter activity	IEA
GO:0032217	Function	Riboflavin transmembrane transporter activity	TAS
GO:0032218	Process	Riboflavin transport	IBA
GO:0032218	Process	Riboflavin transport	IDA	20463145
GO:0032218	Process	Riboflavin transport	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA

Other IDs

• MIM: 607883
• HGNC: 30225
• e!Ensembl: ENSG00000132517

Protein

• UniProt ID: Q9NWF4
• Protein name: Solute carrier family 52, riboflavin transporter, member 1 (Porcine endogenous retrovirus A receptor 2) (PERV-A receptor 2) (huPAR-2) (Protein GPR172B) (Riboflavin transporter 1) (hRFT1)
• Protein 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, PubMe
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06237	DUF1011	276 → 374	Protein of unknown function (DUF1011)	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower level in other tissues. {ECO:0000269|PubMed:12740431, ECO:0000269|PubMed:18632736, ECO:0000269|PubMed:20463145}.
• Sequence:

  MAAPTLGRLVLTHLLVALFGMGSWAAVNGIWVELPVVVKDLPEGWSLPSYLSVVVALGNL
  GLLVVTLWRQLAPGKGEQVPIQVVQVLSVVGTALLAPLWHHVAPVAGQLHSVAFLTLALV
  LAMACCTSNVTFLPFLSHLPPPFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPTNGT
  SGPPLDFPERFPASTFFWALTALLVTSAAAFRGLLLLLPSLPSVTTGGSGPELQLGSPGA
  EEEEKEEEEALPLQEPPSQAAGTIPGPDPEAHQLFSAHGAFLLGLMAFTSAVTNGVLPSV
  QSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLVGLSLLGMLFGAYLMALA
  ILSPCPPLVGTTAGVVLVVLSWVLCLCVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSL
  LGAGAMFPPTSIYHVFQSRKDCVDPCGP

• Sequence length: 448

Pathways

Reactome:

Vitamin B2 (riboflavin) metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ariboflavinosis	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maternal riboflavin deficiency	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIBOFLAVIN DEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC52A1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin B2 deficiency	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Brown Vialetto Van Laere syndrome	Associate	28382968	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	33860055	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Associate	24139842	★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	37510312	★☆☆☆☆ Found in Text Mining only
Myopathy with Giant Abnormal Mitochondria	Associate	34524871	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	34524871	★☆☆☆☆ Found in Text Mining only
Nerve Degeneration	Associate	28382968	★☆☆☆☆ Found in Text Mining only
Riboflavin Deficiency	Associate	37510312	★★☆☆☆ Found in Text Mining + Unknown/Other Associations