Family Search for PF06237 (DUF1011)
PF06237.12 hits 17 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 288:386 / 460 (21.5%), covers 97.0% of PF06237, 134.4 bits
S52A3_RAT / Q4FZU9 Solute carrier family 52, riboflavin transporter, member 3; Riboflavin transporter 2; rRFT2 from Rattus norvegicus (Rat) (see paper)
Aligns to 291:389 / 463 (21.4%), covers 97.0% of PF06237, 134.2 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)
XP_008760550 solute carrier family 52, riboflavin transporter, member 3 isoform X1 from Rattus norvegicus
Aligns to 291:389 / 463 (21.4%), covers 97.0% of PF06237, 134.2 bits
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 297:395 / 469 (21.1%), covers 97.0% of PF06237, 125.7 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) - 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,...”
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 276:374 / 448 (22.1%), covers 97.0% of PF06237, 122.7 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...”
XP_016869311 solute carrier family 52, riboflavin transporter, member 2 isoform X3 from Homo sapiens
Aligns to 109:207 / 281 (35.2%), covers 98.0% of PF06237, 122.3 bits
- 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.
- Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).
Guissart, European journal of human genetics : EJHG 2016 - GeneRIF: A novel SLC52A2 mutation identified in a family with spinocerebellar ataxia with blindness and deafness.
- Riboflavin uptake transporter Slc52a2 (RFVT2) is upregulated in the mouse mammary gland during lactation.
Wu, American journal of physiology. Regulatory, integrative and comparative physiology 2016 (PubMed)- GeneRIF: These results strongly implicate a potential role for SLC52A2 in riboflavin uptake by milk-producing MECs, a critical step in the transfer of riboflavin into breast milk.
- Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
Menezes, Developmental medicine and child neurology 2016 (PubMed)- GeneRIF: This study showed that Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency and improved by riboflavin treatment.
- More
TC 2.A.125.1.1 / B5MEV1 The riboflavin (Km = 40μM) transporter, RFT1, SLC52A1 from Homo sapiens (see 2 papers)
Aligns to 276:374 / 448 (22.1%), covers 97.0% of PF06237, 122.0 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 276:374 / 448 (22.1%), covers 97.0% of PF06237, 122.0 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 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.
- Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
Nalini, Journal of the neurological sciences 2013 - GeneRIF: data suggest that MMND is a distinct clinical subgroup of childhood onset MND patients where the known genetic defects are so far negative.
- 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.
- Binding of transcription factor activating protein 2 γ on the 5'-proximal promoter region of human porcine endogenous retrovirus subgroup A receptor 2/GPR172B.
Nakaya, Xenotransplantation (PubMed)- GeneRIF: We demonstrated that TFAP-2gamma is one of the transcription factors involved in the PAR-2 expression in human villous trophoblast cells.
- More
- 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...”
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 273:371 / 445 (22.2%), covers 98.0% of PF06237, 121.1 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) - 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...”
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 278:376 / 450 (22.0%), covers 98.0% of PF06237, 121.0 bits
XP_006521214 solute carrier family 52, riboflavin transporter, member 2 isoform X1 from Mus musculus
Aligns to 278:376 / 450 (22.0%), covers 98.0% of PF06237, 120.8 bits
NP_651901 riboflavin transporter from Drosophila melanogaster
Aligns to 320:418 / 487 (20.3%), covers 99.0% of PF06237, 118.3 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.
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 274:372 / 446 (22.2%), covers 97.0% of PF06237, 117.7 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...”
LOC103317747 solute carrier family 52, riboflavin transporter, member 3-A-like from Nasonia vitripennis
Aligns to 309:407 / 477 (20.8%), covers 98.0% of PF06237, 109.4 bits
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 258:356 / 427 (23.2%), covers 98.0% of PF06237, 95.8 bits
NP_001256040 Riboflavin transporter rft-2 from Caenorhabditis elegans
Aligns to 292:389 / 463 (21.2%), covers 97.0% of PF06237, 95.8 bits
S52AB_CAEEL / G4SDH4 Riboflavin transporter rft-2; Solute carrier family 52, riboflavin transporter rft-2 from Caenorhabditis elegans (see 2 papers)
Aligns to 305:402 / 476 (20.6%), covers 97.0% of PF06237, 95.7 bits
- function: Riboflavin transporter.
disruption phenotype: RNAi-mediated knockdown causes a severe reduction in the number of laid eggs.
Or search for genetic data about PF06237 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory