Family Search for PF06237 (SLC52_ribofla_tr)

April 2024: See Interactive Tools for Functional Annotation of Bacterial Genomes for advice on using these tools.

PF06237 hits 16 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

S52A3_MOUSE / Q9D6X5 Solute carrier family 52, riboflavin transporter, member 3; Riboflavin transporter 2; RFT2 from Mus musculus (Mouse) (see paper)
NP_081448 solute carrier family 52, riboflavin transporter, member 3 isoform 1 precursor from Mus musculus
Aligns to 1:450 / 460 (97.8%), covers 100.0% of PF06237, 587.9 bits

• 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.
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)
• Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice.
  Jin, Scientific reports 2020
  • GeneRIF: Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice.
• Conditional (intestinal-specific) knockout of the riboflavin transporter-3 (RFVT-3) impairs riboflavin absorption.
  Subramanian, American journal of physiology. Gastrointestinal and liver physiology 2016
  • GeneRIF: the RFVT-3 system is the main transporter involved in carrier-mediated riboflavin uptake in the native mouse small and large intestine
• SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
  Intoh, Human molecular genetics 2016
  • GeneRIF: Loss of Slc52a3 gene is associated with Brown-Vialetto-van Laere syndrome.
• Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice.
  Yoshimatsu, Scientific reports 2016
  • GeneRIF: our knowledge, this is the first report to indicate that Rfvt3 contributes to placental riboflavin transport, and that disruption of Slc52a3 gene caused neonatal mortality with hyperlipidemia and hypoglycemia owing to riboflavin deficiency.

S52A3_RAT / Q4FZU9 Solute carrier family 52, riboflavin transporter, member 3; Riboflavin transporter 2; rRFT2 from Rattus norvegicus (Rat) (see paper)
Aligns to 1:453 / 463 (97.8%), covers 100.0% of PF06237, 586.5 bits

• 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.
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)

S52A3_HUMAN / Q9NQ40 Solute carrier family 52, riboflavin transporter, member 3; Riboflavin transporter 2; hRFT2 from Homo sapiens (Human) (see 12 papers)
TC 2.A.125.1.2 / Q9NQ40 Solute carrier family 52, riboflavin transporter, member 3 (Riboflavin transporter 2) (hRFVT2, RFVT3). Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere and Fazio-Londe syndromes from Homo sapiens (see 7 papers)
Aligns to 1:459 / 469 (97.9%), covers 100.0% of PF06237, 574.4 bits

• 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:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)
• substrates: riboflavin
  tcdb comment: Since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transporters RFVT2 and RFVT3, treatment with high doses of riboflavin have proven to be helpful treatments. Patients exhibit a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal (O'Callaghan et al. 2019). Intestinal RFVT3 interacts with TMEM237 (TC# 8.A.121), and this interaction has physiological/biological significance; it seems to be an inducer of RFVT3 synthesis (Sabui et al. 2019)
• A New Mechanism for Ginsenoside Rb1 to Promote Glucose Uptake, Regulating Riboflavin Metabolism and Redox Homeostasis.
  Liu, Metabolites 2022
  • “...reported yet. We thus acquired the 3D structures based on the human sequence (Q9HAB3 and Q9NQ40) of SLC52A2 and SLC52A3 from the AlphaFold Protein Structure Database ( https://alphafold.ebi.ac.uk/ , accessed on 10 March 2022), which provides 3D models generated by artificial intelligence. All of the proteins...”
• THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Transporters
  Alexander, British journal of pharmacology 2017
  • “...Systematic nomenclature SLC52A1 SLC52A2 SLC52A3 HGNC, UniProt SLC52A1 , Q9NWF4 SLC52A2 , Q9HAB3 SLC52A3 , Q9NQ40 Common abreviation RFVT1 RFVT2 RFVT3 Endogenous substrates riboflavin ( K m 1.310 3 M) [ 586 ] riboflavin ( K m 9.810 4 M) [ 586 ] riboflavin ( K...”
• The Concise Guide to PHARMACOLOGY 2015/16: Transporters
  Alexander, British journal of pharmacology 2015
  • “...Common abreviation RFVT1 RFVT2 RFVT3 HGNC, UniProt SLC52A1 , Q9NWF4 SLC52A2 , Q9HAB3 SLC52A3 , Q9NQ40 Endogenous substrates riboflavin ( K m 1.3 10 3 M) [ 530 ] riboflavin ( K m 9.8 10 4 M) [ 530 ] riboflavin ( K m 3.3 10...”
• The Concise Guide to PHARMACOLOGY 2013/14: transporters
  Alexander, British journal of pharmacology 2013
  • “...SLC52A1 SLC52A2 SLC52A3 Common abbreviation RFVT1 RFVT2 RFVT3 HGNC, UniProt SLC52A1, Q9NWF4 SLC52A2, Q9HAB3 SLC52A3, Q9NQ40 Endogenous substrates riboflavin (Km 1.38x10 -9 M) 463 riboflavin (Km 9.8x10 -10 M) 463 riboflavin (Km 3.3x10 -10 M) 463 Stoichiometry Unknown Unknown H + -dependent Comments Although expressed elsewhere,...”

NP_651901 riboflavin transporter from Drosophila melanogaster
Aligns to 72:482 / 487 (84.4%), covers 99.8% of PF06237, 527.2 bits

• Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
  Manole, Brain : a journal of neurology 2017
  • GeneRIF: global knockdown of the single Drosophila melanogaster riboflavin transporter homologue revealed reduced levels of riboflavin, downstream metabolites, and electron transport chain complex I activity. This led to abnormal mitochondrial membrane potential, respiratory chain activity and morphology. Riboflavin transporter knockdown in Drosophila also resulted in severely impaired locomotor activity and reduced lifespan.

XP_006521214 solute carrier family 52, riboflavin transporter, member 2 isoform X1 from Mus musculus
Aligns to 8:440 / 450 (96.2%), covers 99.5% of PF06237, 513.9 bits

• Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice.
  Jin, Biological & pharmaceutical bulletin 2021 (PubMed)
  • GeneRIF: Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice.
• Involvement of riboflavin transporter RFVT2/Slc52a2 in hepatic homeostasis of riboflavin in mice.
  Yao, European journal of pharmacology 2013 (PubMed)
  • GeneRIF: mRFVT2 was involved in hepatic riboflavin homeostasis

S52A2_RAT / B5MEV3 Solute carrier family 52, riboflavin transporter, member 2; Porcine endogenous retrovirus A receptor 2; Protein GPR172B; Riboflavin transporter 1; rRFT1 from Rattus norvegicus (Rat) (see 2 papers)
XP_006241888 solute carrier family 52, riboflavin transporter, member 2 isoform X1 from Rattus norvegicus
Aligns to 8:440 / 450 (96.2%), covers 99.5% of PF06237, 512.8 bits

• 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. May also act as a receptor for 4- hydroxybutyrate.
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)
• Riboflavin transport mediated by riboflavin transporters (RFVTs/SLC52A) at the rat outer blood-retinal barrier.
  Kubo, Drug metabolism and pharmacokinetics 2019 (PubMed)
  • GeneRIF: The obtained results suggested the involvement of riboflavin transporters (SLC52A/RFVT) at the outer BRB, and this is supported by the expression and knockdown analyses of rRFVT2 (Slc52a2) and rRFVT3 (Slc52a3).
• Blood-to-retina transport of riboflavin via RFVTs at the inner blood-retinal barrier.
  Kubo, Drug metabolism and pharmacokinetics 2017 (PubMed)
  • GeneRIF: The function and inhibition profile suggested the involvement of riboflavin transporter 2 in riboflavin transport at the inner BRB, and this is supported by expression and knockdown analysis of rRFVT2 (Slc52a2) and rRFVT3 (Slc52a3) in TR-iBRB2 cells.
• Differentiation-dependent regulation of intestinal vitamin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 cells and native rat intestine.
  Subramanian, American journal of physiology. Gastrointestinal and liver physiology 2013
  • GeneRIF: Intestinal riboflavin uptake process undergoes differentiation-dependent upregulation and suggest that this is mediated (at least in part) via transcriptional mechanisms of SLC52A1 and SLC52A3.
• Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1.
  Yonezawa, American journal of physiology. Cell physiology 2008 (PubMed)
  • GeneRIF: Identification/characterization riboflavin trasporter (RFT1) as a novel riboflavin transporter.

S52A2_HUMAN / Q9HAB3 Solute carrier family 52, riboflavin transporter, member 2; Porcine endogenous retrovirus A receptor 1; PERV-A receptor 1; Protein GPR172A; Riboflavin transporter 3; hRFT3 from Homo sapiens (Human) (see 9 papers)
TC 2.A.125.1.3 / Q9HAB3 Solute carrier family 52, riboflavin transporter, member 2 (Porcine endogenous retrovirus A receptor 1) (PERV-A receptor 1) (Protein GPR172A) (Riboflavin transporter 2) (hRFVT2) from Homo sapiens (see 6 papers)
Aligns to 8:435 / 445 (96.2%), covers 99.5% of PF06237, 500.9 bits

• 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:20463145, PubMed:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). May also act as a receptor for 4- hydroxybutyrate (Probable).
  function: (Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)
• substrates: riboflavin
  tcdb comment: Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere and Fazio-Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transporters RFVT2 and RFVT3. Patients exhibit a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal (O'Callaghan et al. 2019)
• An Overview of the Putative Structural and Functional Properties of the GHBh1 Receptor through a Bioinformatics Approach.
  Wolf, Life (Basel, Switzerland) 2023
  • “...by Andriamampandry et al. (2007), to assess the putative structure of this receptor (accession code Q9HAB3) [ 14 ]. Several predictors, in addition to the Uniprot/Swissprot database, were used to identify various characteristics of the receptor, including the number of transmembrane (TM) helices, terminus orientation and...”
• A New Mechanism for Ginsenoside Rb1 to Promote Glucose Uptake, Regulating Riboflavin Metabolism and Redox Homeostasis.
  Liu, Metabolites 2022
  • “...not been reported yet. We thus acquired the 3D structures based on the human sequence (Q9HAB3 and Q9NQ40) of SLC52A2 and SLC52A3 from the AlphaFold Protein Structure Database ( https://alphafold.ebi.ac.uk/ , accessed on 10 March 2022), which provides 3D models generated by artificial intelligence. All of...”
• THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Transporters
  Alexander, British journal of pharmacology 2017
  • “...52 member 3 Systematic nomenclature SLC52A1 SLC52A2 SLC52A3 HGNC, UniProt SLC52A1 , Q9NWF4 SLC52A2 , Q9HAB3 SLC52A3 , Q9NQ40 Common abreviation RFVT1 RFVT2 RFVT3 Endogenous substrates riboflavin ( K m 1.310 3 M) [ 586 ] riboflavin ( K m 9.810 4 M) [ 586 ]...”
• The Concise Guide to PHARMACOLOGY 2015/16: Transporters
  Alexander, British journal of pharmacology 2015
  • “...SLC52A1 SLC52A2 SLC52A3 Common abreviation RFVT1 RFVT2 RFVT3 HGNC, UniProt SLC52A1 , Q9NWF4 SLC52A2 , Q9HAB3 SLC52A3 , Q9NQ40 Endogenous substrates riboflavin ( K m 1.3 10 3 M) [ 530 ] riboflavin ( K m 9.8 10 4 M) [ 530 ] riboflavin ( K...”
• The Concise Guide to PHARMACOLOGY 2013/14: transporters
  Alexander, British journal of pharmacology 2013
  • “...Systematic nomenclature SLC52A1 SLC52A2 SLC52A3 Common abbreviation RFVT1 RFVT2 RFVT3 HGNC, UniProt SLC52A1, Q9NWF4 SLC52A2, Q9HAB3 SLC52A3, Q9NQ40 Endogenous substrates riboflavin (Km 1.38x10 -9 M) 463 riboflavin (Km 9.8x10 -10 M) 463 riboflavin (Km 3.3x10 -10 M) 463 Stoichiometry Unknown Unknown H + -dependent Comments Although...”

TC 2.A.125.1.1 / B5MEV1 The riboflavin (Km = 40μM) transporter, RFT1, SLC52A1 from Homo sapiens (see 2 papers)
Aligns to 8:438 / 448 (96.2%), covers 99.5% of PF06237, 498.3 bits

• substrates: riboflavin
  tcdb comment: The C-terminal 150 aas are 92% identical to porcine endogenous retrovirus A receptor 2 (PERV-A receptor 2) and 57% identical to the G-protein-coupled receptor 172A (XP_001519123)

S52A1_HUMAN / Q9NWF4 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 from Homo sapiens (Human) (see 4 papers)
XP_011522253 solute carrier family 52, riboflavin transporter, member 1 isoform X1 from Homo sapiens
Aligns to 8:438 / 448 (96.2%), covers 99.5% of PF06237, 498.0 bits

• 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).
  function: (Microbial infection) May function as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)
• THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Transporters
  Alexander, British journal of pharmacology 2017
  • “...solute carrier family 52 member 3 Systematic nomenclature SLC52A1 SLC52A2 SLC52A3 HGNC, UniProt SLC52A1 , Q9NWF4 SLC52A2 , Q9HAB3 SLC52A3 , Q9NQ40 Common abreviation RFVT1 RFVT2 RFVT3 Endogenous substrates riboflavin ( K m 1.310 3 M) [ 586 ] riboflavin ( K m 9.810 4 M)...”
• The Concise Guide to PHARMACOLOGY 2015/16: Transporters
  Alexander, British journal of pharmacology 2015
  • “...3 Systematic nomenclature SLC52A1 SLC52A2 SLC52A3 Common abreviation RFVT1 RFVT2 RFVT3 HGNC, UniProt SLC52A1 , Q9NWF4 SLC52A2 , Q9HAB3 SLC52A3 , Q9NQ40 Endogenous substrates riboflavin ( K m 1.3 10 3 M) [ 530 ] riboflavin ( K m 9.8 10 4 M) [ 530 ]...”
• The Concise Guide to PHARMACOLOGY 2013/14: transporters
  Alexander, British journal of pharmacology 2013
  • “...member 3 Systematic nomenclature SLC52A1 SLC52A2 SLC52A3 Common abbreviation RFVT1 RFVT2 RFVT3 HGNC, UniProt SLC52A1, Q9NWF4 SLC52A2, Q9HAB3 SLC52A3, Q9NQ40 Endogenous substrates riboflavin (Km 1.38x10 -9 M) 463 riboflavin (Km 9.8x10 -10 M) 463 riboflavin (Km 3.3x10 -10 M) 463 Stoichiometry Unknown Unknown H + -dependent...”
• Identification of two distinct structural regions in a human porcine endogenous retrovirus receptor, HuPAR2, contributing to function for viral entry.
  Marcucci, Retrovirology 2009
  • “...into pcDNA3.1(+)/Zeo (Invitrogen) to generate pcDNA3.1(+)/Zeo eGFP. HuPAR1 (GenBank NP 078807 ) and HuPAR2 (GenBank Q9NWF4 ) cDNAs were amplified using primers that introduce a 5' Hind III site and 3' Kpn I site. The HuPAR2 template contained two amino acid polymorphisms, T261 and M296. Hind...”
• Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum.
  Grünert, Genes 2023
  • GeneRIF: Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum.
• Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis.
  van, Annals of surgery 2022 (PubMed)
  • GeneRIF: Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis.
• Riboflavin transporter SLC52A1, a target of p53, suppresses cellular senescence by activating mitochondrial complex II.
  Nagano, Molecular biology of the cell 2021
  • GeneRIF: Riboflavin transporter SLC52A1, a target of p53, suppresses cellular senescence by activating mitochondrial complex II.
• The Expression of Riboflavin Transporters in Human Colorectal Cancer.
  Tutino, Anticancer research 2018 (PubMed)
  • GeneRIF: In HT-29 cells, the RFVT1 protein level was drastically lower. In tumor tissues of patients with CRC, RFVT1 content was reduced at both protein and mRNA levels compared to normal mucosa.
• Effect of the proinflammatory cytokine TNF-α on intestinal riboflavin uptake: inhibition mediated via transcriptional mechanism(s).
  Anandam, American journal of physiology. Cell physiology 2018
  • GeneRIF: In the in vitro model, exposing Caco-2 cells to tumor necrosis factor-alpha (TNF-alpha) led to a significant inhibition in RF uptake, an effect that was abrogated upon knocking down TNF receptor 1 (TNFR1). The inhibition in RF uptake was associated with a significant reduction in the expression of hRFVT-3 and -1 protein and mRNA levels, as well as in the activity of the SLC52A3 and SLC52A1 promoters
• An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
  Mosegaard, Molecular genetics and metabolism 2017 (PubMed)
  • GeneRIF: We here report a case of transient MADD, caused by a heterozygous intronic variation, c.1134+11G>A, in the SLC52A1 gene encoding RFVT1. This variation creates a binding site for the splice inhibitory hnRNP A1 protein and causes exon 4 skipping. Riboflavin deficiency and maternal malnutrition during pregnancy might have been the determining factor in the outcome of this case.
• Identification and characterization of 5'-flanking region of the human riboflavin transporter 1 gene (SLC52A1).
  Sabui, Gene 2014
  • GeneRIF: results are the first to reveal the identity of the minimal SLC52A1 promoter and to establish an important role for Sp-1 in its activity
• Differentiation-dependent regulation of intestinal vitamin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 cells and native rat intestine.
  Subramanian, American journal of physiology. Gastrointestinal and liver physiology 2013
  • GeneRIF: Intestinal riboflavin uptake process undergoes differentiation-dependent upregulation and suggest that this is mediated (at least in part) via transcriptional mechanisms of SLC52A1 and SLC52A3.
• More

S52A2_PIG / Q863Y7 Solute carrier family 52, riboflavin transporter, member 2; Endogenous retrovirus A receptor; Protein GPR172B; Riboflavin transporter 1 from Sus scrofa (Pig) (see paper)
Aligns to 8:436 / 446 (96.2%), covers 99.5% of PF06237, 497.9 bits

• 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. May also act as a receptor for 4- hydroxybutyrate.
  function: (Microbial infection) In case of infection by porcine endogenous retrovirus (PERV-A), acts as a cell receptor to retroviral envelopes.
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)
• Differential resistance to cell entry by porcine endogenous retrovirus subgroup A in rodent species.
  Mattiuzzo, Retrovirology 2007
  • “...PAR-2 [Swissprot: Q863Y8 ], dog PAR [RefSeq: XP_532355], horse PAR [RefSeq: XP_001505049], pig PAR [Swissprot: Q863Y7 ], cow PAR [RefSeq: NP_001069369], muPAR [RefSeq: NP_083919] and ratPAR [RefSeq: NP_001103140]. Competing interests The author(s) declare that they have no competing interests. Authors' contributions YT conceived the study. GM...”

S52A2_PAPHA / Q863Y8 Solute carrier family 52, riboflavin transporter, member 2; Porcine endogenous retrovirus A receptor 2; PERV-A receptor 2; Protein GPR172B; Riboflavin transporter 1; RFT1 from Papio hamadryas (Hamadryas baboon) (see paper)
Aligns to 8:438 / 448 (96.2%), covers 99.5% of PF06237, 494.9 bits

• 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. May also act as a receptor for 4- hydroxybutyrate.
  function: (Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)
• Differential resistance to cell entry by porcine endogenous retrovirus subgroup A in rodent species.
  Mattiuzzo, Retrovirology 2007
  • “...PAR-2 [RefSeq: XP_001164395], Rhesus macaque PAR-1 [RefSeq: XP_001091189] and PAR-2 [RefSeq: XP_001099620], baboon PAR-2 [Swissprot: Q863Y8 ], dog PAR [RefSeq: XP_532355], horse PAR [RefSeq: XP_001505049], pig PAR [Swissprot: Q863Y7 ], cow PAR [RefSeq: NP_001069369], muPAR [RefSeq: NP_083919] and ratPAR [RefSeq: NP_001103140]. Competing interests The author(s) declare...”

LOC103317747 solute carrier family 52, riboflavin transporter, member 3-A-like from Nasonia vitripennis
Aligns to 27:471 / 477 (93.3%), covers 99.5% of PF06237, 465.2 bits

• Evidence of capacitation in the parasitoid wasp, Nasonia vitripennis, and its potential role in sex allocation
  Jones, Ecology and evolution 2020
  • “...& Harrington, 2016 ), with which we identified several genes including LOC100123558 an ampdeaminase and LOC103317747 a riboflavin transporter (a riboflavin transporter was also identified in the 2015 study) which catalysis oxidationreduction reactions, which were upregulated in ovipositing females. We also identified several other processes which...”

S52AA_CAEEL / Q3LFN0 Riboflavin transporter rft-1; Solute carrier family 52, riboflavin transporter rft-1 from Caenorhabditis elegans (see paper)
NP_001033515 Riboflavin transporter rft-1 from Caenorhabditis elegans
Aligns to 3:422 / 427 (98.4%), covers 99.5% of PF06237, 458.1 bits

• function: Riboflavin transporter. Riboflavin transport is Na(+)- independent but pH-sensitive.
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)
  disruption phenotype: RNAi-mediated knockdown causes a severe reduction in the number of laid eggs; the few laid eggs fail to hatch.
• Identification and functional characterization of the Caenorhabditis elegans riboflavin transporters rft-1 and rft-2.
  Biswas, PloS one 2013
  • GeneRIF: Caenorhabditis elegans riboflavin transporters rft-1 (Y47D7A.16) transports riboflavin with an acidic pH dependence, saturability (apparent Km = 1.4 +/- 0.5 microM), inhibition by riboflavin analogues, and Na(+) independence.

NP_001256040 Riboflavin transporter rft-2 from Caenorhabditis elegans
Aligns to 3:455 / 463 (97.8%), covers 99.8% of PF06237, 441.6 bits

• Identification and functional characterization of the Caenorhabditis elegans riboflavin transporters rft-1 and rft-2.
  Biswas, PloS one 2013
  • GeneRIF: Caenorhabditis elegans riboflavin transporters rft-2 (Y47D7A.14) expression is localized mainly to the intestine and pharynx.

S52AB_CAEEL / G4SDH4 Riboflavin transporter rft-2; Solute carrier family 52, riboflavin transporter rft-2 from Caenorhabditis elegans (see 2 papers)
Aligns to 3:468 / 476 (97.9%), covers 99.8% of PF06237, 440.7 bits

• function: Riboflavin transporter.
  catalytic activity: riboflavin(in) = riboflavin(out) (RHEA:35015)
  disruption phenotype: RNAi-mediated knockdown causes a severe reduction in the number of laid eggs.

XP_016869311 solute carrier family 52, riboflavin transporter, member 2 isoform X2 from Homo sapiens
2 alignments in 8:271 / 281 (94.0%), covering up to 45.7% of PF06237, 275.4 bits

• Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2.
  Console, IUBMB life 2022 (PubMed)
  • GeneRIF: Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2.
• Functional Study of the Human Riboflavin Transporter 2 Using Proteoliposomes System.
  Console, Methods in molecular biology (Clifton, N.J.) 2021 (PubMed)
  • GeneRIF: Functional Study of the Human Riboflavin Transporter 2 Using Proteoliposomes System.
• Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency.
  Colasuonno, Oxidative medicine and cellular longevity 2020
  • GeneRIF: Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency.
• An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.
  O'Callaghan, Journal of inherited metabolic disease 2019 (PubMed)
  • GeneRIF: Reports on 109 patients with a genetically confirmed diagnosis of riboflavin transporter deficiency are summarized in order to highlight commonly presenting clinical features and possible differences between patients with pathogenic SLC52A2 (RTD2) or SLC52A3 (RTD3) mutations. [review]
• Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
  Nimmo, American journal of medical genetics. Part A 2018 (PubMed)
  • GeneRIF: Whole exome sequencing identified a homozygous likely pathogenic variant in SCL52A3 (c.1223G>A; p.Gly408Asp). We report two new patients with riboflavin transporter deficiency, caused by mutations in two different riboflavin transporter genes.
• SLC52A2 mutations cause SCABD2 phenotype: A second report.
  Babanejad, International journal of pediatric otorhinolaryngology 2018 (PubMed)
  • GeneRIF: This is the second report of the genotype-phenotype correlation between this syndrome named spinocerebellar ataxia with blindness and deafness type 2 (SCABD2) and SLC52A2 gene.
• The Expression of Riboflavin Transporters in Human Colorectal Cancer.
  Tutino, Anticancer research 2018 (PubMed)
  • GeneRIF: RFVT2 gene and protein expression levels were higher in DLD-1 and HT-29 compared to Caco2 cells. In tumor tissues of patients with CRC, RFVT2 gene expression levels were increased, while protein expression was reduced, with a small reduction in riboflavin amount.
• Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
  Manole, Brain : a journal of neurology 2017
  • GeneRIF: Eight mutations in SLC52a2 were associated with Brown-Vialetto-Van Laere syndrome.
• More

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