{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9NWF4","secondaryAccessions":["B5MEV1","B5MEV2","Q6P9E0","Q86UT0"],"uniProtkbId":"S52A1_HUMAN","entryAudit":{"firstPublicDate":"2005-10-11","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2010-10-05","entryVersion":162,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Solute carrier family 52, riboflavin transporter, member 1"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12740431"}],"value":"Porcine endogenous retrovirus A receptor 2"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12740431"}],"value":"PERV-A receptor 2"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12740431"}],"value":"huPAR-2"}]},{"fullName":{"value":"Protein GPR172B"}},{"fullName":{"value":"Riboflavin transporter 1"},"shortNames":[{"value":"hRFT1"}]}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:30225"}],"value":"SLC52A1"},"synonyms":[{"value":"GPR172B"},{"value":"PAR2"},{"value":"RFT1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18632736"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20463145"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"20463145"}],"value":"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)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"12740431"}],"value":"(Microbial infection) May function as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"riboflavin(in) = riboflavin(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:35015"},{"database":"ChEBI","id":"CHEBI:57986"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18632736"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20463145"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18632736"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20463145"}],"value":"The activity is strongly inhibited by riboflavin analogs, such as lumiflavin (PubMed:18632736, PubMed:20463145). Weakly inhibited by flavin adenine dinucleotide (FAD) (PubMed:18632736, PubMed:20463145)"}],"commentType":"ACTIVITY REGULATION"},{"commentType":"BIOPHYSICOCHEMICAL PROPERTIES","kineticParameters":{"michaelisConstants":[{"constant":1.38,"unit":"uM","substrate":"riboflavin","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20463145"}]}]}},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9NWF4","intActId":"EBI-12904614"},"interactantTwo":{"uniProtKBAccession":"Q13520","geneName":"AQP6","intActId":"EBI-13059134"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NWF4","intActId":"EBI-12904614"},"interactantTwo":{"uniProtKBAccession":"Q96BA8","geneName":"CREB3L1","intActId":"EBI-6942903"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NWF4","intActId":"EBI-12904614"},"interactantTwo":{"uniProtKBAccession":"P48165","geneName":"GJA8","intActId":"EBI-17458373"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NWF4","intActId":"EBI-12904614"},"interactantTwo":{"uniProtKBAccession":"P38484","geneName":"IFNGR2","intActId":"EBI-3905457"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NWF4","intActId":"EBI-12904614"},"interactantTwo":{"uniProtKBAccession":"Q16585","geneName":"SGCB","intActId":"EBI-5663627"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NWF4","intActId":"EBI-12904614"},"interactantTwo":{"uniProtKBAccession":"Q3SXP7","geneName":"SHISAL1","intActId":"EBI-18037857"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NWF4","intActId":"EBI-12904614"},"interactantTwo":{"uniProtKBAccession":"P30825","geneName":"SLC7A1","intActId":"EBI-4289564"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NWF4","intActId":"EBI-12904614"},"interactantTwo":{"uniProtKBAccession":"Q7Z7N9","geneName":"TMEM179B","intActId":"EBI-11724423"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NWF4","intActId":"EBI-12904614"},"interactantTwo":{"uniProtKBAccession":"Q96Q45-2","geneName":"TMEM237","intActId":"EBI-10982110"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12740431"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18632736"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20463145"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q9NWF4-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"RFT1sv"}],"isoformIds":["Q9NWF4-2"],"sequenceIds":["VSP_039888","VSP_039889"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12740431"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18632736"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20463145"}],"value":"Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower level in other tissues"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Riboflavin deficiency","diseaseAccession":"DI-03674","acronym":"RBFVD","description":"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.","diseaseCrossReference":{"database":"MIM","id":"615026"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21089064"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the riboflavin transporter family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":448,"modifier":"EXACT"}},"description":"Solute carrier family 52, riboflavin transporter, member 1","featureId":"PRO_0000042632"},{"type":"Transmembrane","location":{"start":{"value":14,"modifier":"EXACT"},"end":{"value":34,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":47,"modifier":"EXACT"},"end":{"value":67,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":79,"modifier":"EXACT"},"end":{"value":99,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":124,"modifier":"EXACT"},"end":{"value":144,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":147,"modifier":"EXACT"},"end":{"value":167,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":191,"modifier":"EXACT"},"end":{"value":211,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":280,"modifier":"EXACT"},"end":{"value":300,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":315,"modifier":"EXACT"},"end":{"value":335,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":342,"modifier":"EXACT"},"end":{"value":362,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":369,"modifier":"EXACT"},"end":{"value":389,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":407,"modifier":"EXACT"},"end":{"value":427,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Region","location":{"start":{"value":225,"modifier":"EXACT"},"end":{"value":267,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":240,"modifier":"EXACT"},"end":{"value":250,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Glycosylation","location":{"start":{"value":178,"modifier":"EXACT"},"end":{"value":178,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Alternative sequence","location":{"start":{"value":45,"modifier":"EXACT"},"end":{"value":167,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"18632736"}],"featureId":"VSP_039888","alternativeSequence":{"originalSequence":"WSLPSYLSVVVALGNLGLLVVTLWRQLAPGKGEQVPIQVVQVLSVVGTALLAPLWHHVAPVAGQLHSVAFLTLALVLAMACCTSNVTFLPFLSHLPPPFLRSFFLGQGLSALLPCVLALVQGV","alternativeSequences":["EWEGGTGKRGAGMPRKVACGSSLSLSHCAPDMASFLPCRLEPPLIPLCGCGAGKPGSAGGDPVEAAGPGQGRAGPHPGGTGAECSGHSPAGPSVAPRGPSGRAAPLCGLPNSGLGVGNGLLYL"]}},{"type":"Alternative sequence","location":{"start":{"value":168,"modifier":"EXACT"},"end":{"value":448,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"18632736"}],"featureId":"VSP_039889","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":70,"modifier":"EXACT"},"end":{"value":70,"modifier":"EXACT"}},"description":"riboflavin transport is unaffected; dbSNP:rs346822","featureCrossReferences":[{"database":"dbSNP","id":"rs346822"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18632736"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21089064"},{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.5"}],"featureId":"VAR_028361","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":271,"modifier":"EXACT"},"end":{"value":271,"modifier":"EXACT"}},"description":"in dbSNP:rs346821","featureCrossReferences":[{"database":"dbSNP","id":"rs346821"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21089064"}],"featureId":"VAR_028362","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":296,"modifier":"EXACT"},"end":{"value":296,"modifier":"EXACT"}},"description":"riboflavin transport is unaffected; dbSNP:rs2304445","featureCrossReferences":[{"database":"dbSNP","id":"rs2304445"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21089064"}],"featureId":"VAR_028363","alternativeSequence":{"originalSequence":"V","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":386,"modifier":"EXACT"},"end":{"value":386,"modifier":"EXACT"}},"description":"in dbSNP:rs187609896","featureCrossReferences":[{"database":"dbSNP","id":"rs187609896"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28190456"}],"featureId":"VAR_079006","alternativeSequence":{"originalSequence":"L","alternativeSequences":["V"]}}],"keywords":[{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"id":"KW-1183","category":"Molecular function","name":"Host cell receptor for virus entry"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-0675","category":"Molecular function","name":"Receptor"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"},{"id":"KW-0813","category":"Biological process","name":"Transport"}],"references":[{"referenceNumber":1,"citation":{"id":"12740431","citationType":"journal article","authors":["Ericsson T.A.","Takeuchi Y.","Templin C.","Quinn G.","Farhadian S.F.","Wood J.C.","Oldmixon B.A.","Suling K.M.","Ishii J.K.","Kitagawa Y.","Miyazawa T.","Salomon D.R.","Weiss R.A.","Patience C."],"citationCrossReferences":[{"database":"PubMed","id":"12740431"},{"database":"DOI","id":"10.1073/pnas.1138025100"}],"title":"Identification of receptors for pig endogenous retrovirus.","publicationDate":"2003","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"6759","lastPage":"6764","volume":"100"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","FUNCTION AS A VIRAL RECEPTOR (MICROBIAL INFECTION)","SUBCELLULAR LOCATION","TISSUE SPECIFICITY"]},{"referenceNumber":2,"citation":{"id":"18632736","citationType":"journal article","authors":["Yonezawa A.","Masuda S.","Katsura T.","Inui K."],"citationCrossReferences":[{"database":"PubMed","id":"18632736"},{"database":"DOI","id":"10.1152/ajpcell.00019.2008"}],"title":"Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1.","publicationDate":"2008","journal":"Am. J. Physiol.","firstPage":"C632","lastPage":"C641","volume":"295"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2)","VARIANT ARG-70","FUNCTION","TRANSPORTER ACTIVITY","SUBCELLULAR LOCATION","ACTIVITY REGULATION","TISSUE SPECIFICITY"]},{"referenceNumber":3,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)","VARIANT ARG-70"],"referenceComments":[{"value":"Embryo","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"16625196","citationType":"journal article","authors":["Zody M.C.","Garber M.","Adams D.J.","Sharpe T.","Harrow J.","Lupski J.R.","Nicholson C.","Searle S.M.","Wilming L.","Young S.K.","Abouelleil A.","Allen N.R.","Bi W.","Bloom T.","Borowsky M.L.","Bugalter B.E.","Butler J.","Chang J.L.","Chen C.-K.","Cook A.","Corum B.","Cuomo C.A.","de Jong P.J.","DeCaprio D.","Dewar K.","FitzGerald M.","Gilbert J.","Gibson R.","Gnerre S.","Goldstein S.","Grafham D.V.","Grocock R.","Hafez N.","Hagopian D.S.","Hart E.","Norman C.H.","Humphray S.","Jaffe D.B.","Jones M.","Kamal M.","Khodiyar V.K.","LaButti K.","Laird G.","Lehoczky J.","Liu X.","Lokyitsang T.","Loveland J.","Lui A.","Macdonald P.","Major J.E.","Matthews L.","Mauceli E.","McCarroll S.A.","Mihalev A.H.","Mudge J.","Nguyen C.","Nicol R.","O'Leary S.B.","Osoegawa K.","Schwartz D.C.","Shaw-Smith C.","Stankiewicz P.","Steward C.","Swarbreck D.","Venkataraman V.","Whittaker C.A.","Yang X.","Zimmer A.R.","Bradley A.","Hubbard T.","Birren B.W.","Rogers J.","Lander E.S.","Nusbaum C."],"citationCrossReferences":[{"database":"PubMed","id":"16625196"},{"database":"DOI","id":"10.1038/nature04689"}],"title":"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.","publicationDate":"2006","journal":"Nature","firstPage":"1045","lastPage":"1049","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":5,"citation":{"id":"CI-5GBD0VIIJ7C63","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"SEP-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]","VARIANT ARG-70"]},{"referenceNumber":6,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)","VARIANTS ARG-70 AND VAL-271"],"referenceComments":[{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"20463145","citationType":"journal article","authors":["Yao Y.","Yonezawa A.","Yoshimatsu H.","Masuda S.","Katsura T.","Inui K."],"citationCrossReferences":[{"database":"PubMed","id":"20463145"},{"database":"DOI","id":"10.3945/jn.110.122911"}],"title":"Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.","publicationDate":"2010","journal":"J. Nutr.","firstPage":"1220","lastPage":"1226","volume":"140"},"referencePositions":["FUNCTION","TRANSPORTER ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES","ACTIVITY REGULATION","SUBCELLULAR LOCATION","TISSUE SPECIFICITY"]},{"referenceNumber":8,"citation":{"id":"21089064","citationType":"journal article","authors":["Ho G.","Yonezawa A.","Masuda S.","Inui K.","Sim K.G.","Carpenter K.","Olsen R.K.","Mitchell J.J.","Rhead W.J.","Peters G.","Christodoulou J."],"citationCrossReferences":[{"database":"PubMed","id":"21089064"},{"database":"DOI","id":"10.1002/humu.21399"}],"title":"Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.","publicationDate":"2011","journal":"Hum. Mutat.","firstPage":"E1976","lastPage":"E1984","volume":"32"},"referencePositions":["VARIANTS ARG-70; VAL-271 AND MET-296","CHARACTERIZATION OF VARIANTS ARG-70 AND MET-296","INVOLVEMENT IN RBFVD"]},{"referenceNumber":9,"citation":{"id":"28190456","citationType":"journal article","authors":["Wiessner M.","Roos A.","Munn C.J.","Viswanathan R.","Whyte T.","Cox D.","Schoser B.","Sewry C.","Roper H.","Phadke R.","Marini Bettolo C.","Barresi R.","Charlton R.","Boennemann C.G.","Abath Neto O.","Reed U.C.","Zanoteli E.","Araujo Martins Moreno C.","Ertl-Wagner B.","Stucka R.","De Goede C.","Borges da Silva T.","Hathazi D.","Dell'Aica M.","Zahedi R.P.","Thiele S.","Mueller J.","Kingston H.","Mueller S.","Curtis E.","Walter M.C.","Strom T.M.","Straub V.","Bushby K.","Muntoni F.","Swan L.E.","Lochmueller H.","Senderek J."],"citationCrossReferences":[{"database":"PubMed","id":"28190456"},{"database":"DOI","id":"10.1016/j.ajhg.2017.01.024"}],"title":"Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital muscular dystrophy with cataracts and mild cognitive impairment.","publicationDate":"2017","journal":"Am. J. Hum. Genet.","firstPage":"523","lastPage":"536","volume":"100"},"referencePositions":["VARIANT VAL-386"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AY070775","properties":[{"key":"ProteinId","value":"AAL59883.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB362533","properties":[{"key":"ProteinId","value":"BAG71128.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB362534","properties":[{"key":"ProteinId","value":"BAG71129.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK000922","properties":[{"key":"ProteinId","value":"BAA91427.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC012146","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471108","properties":[{"key":"ProteinId","value":"EAW90363.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471108","properties":[{"key":"ProteinId","value":"EAW90364.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC060810","properties":[{"key":"ProteinId","value":"AAH60810.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC092473","properties":[{"key":"ProteinId","value":"AAH92473.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS11066.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9NWF4-1"},{"database":"RefSeq","id":"NP_001098047.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001104577.2"}],"isoformId":"Q9NWF4-1"},{"database":"RefSeq","id":"NP_060456.3","properties":[{"key":"NucleotideSequenceId","value":"NM_017986.4"}],"isoformId":"Q9NWF4-1"},{"database":"RefSeq","id":"XP_011522253.1","properties":[{"key":"NucleotideSequenceId","value":"XM_011523951.3"}],"isoformId":"Q9NWF4-1"},{"database":"RefSeq","id":"XP_047292294.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047436338.1"}],"isoformId":"Q9NWF4-1"},{"database":"RefSeq","id":"XP_047292295.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047436339.1"}],"isoformId":"Q9NWF4-1"},{"database":"AlphaFoldDB","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"120383","properties":[{"key":"Interactions","value":"18"}]},{"database":"FunCoup","id":"Q9NWF4","properties":[{"key":"Number of interactors","value":"189"}]},{"database":"IntAct","id":"Q9NWF4","properties":[{"key":"Interactions","value":"17"}]},{"database":"NDEx","id":"IQUERY-CP-SLC52A1","properties":[{"key":"Evidences","value":"3 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000399979","properties":[{"key":"Description","value":"-"}]},{"database":"TCDB","id":"2.A.125.1.1","properties":[{"key":"FamilyName","value":"the eukaryotic riboflavin transporter (e-rft) family"}]},{"database":"GlyCosmos","id":"Q9NWF4","properties":[{"key":"glycosylation","value":"1 site, No reported glycans"}]},{"database":"GlyGen","id":"Q9NWF4","properties":[{"key":"glycosylation","value":"1 site"}]},{"database":"iPTMnet","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"SLC52A1","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"308153487","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000399979","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"23586","properties":[{"key":"antibodies","value":"176 antibodies from 24 providers"}]},{"database":"DNASU","id":"55065","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000254853.10","properties":[{"key":"ProteinId","value":"ENSP00000254853.5"},{"key":"GeneId","value":"ENSG00000132517.16"}],"isoformId":"Q9NWF4-1"},{"database":"Ensembl","id":"ENST00000424747.1","properties":[{"key":"ProteinId","value":"ENSP00000399979.1"},{"key":"GeneId","value":"ENSG00000132517.16"}],"isoformId":"Q9NWF4-1"},{"database":"Ensembl","id":"ENST00000894338.1","properties":[{"key":"ProteinId","value":"ENSP00000564397.1"},{"key":"GeneId","value":"ENSG00000132517.16"}],"isoformId":"Q9NWF4-1"},{"database":"Ensembl","id":"ENST00000923984.1","properties":[{"key":"ProteinId","value":"ENSP00000594043.1"},{"key":"GeneId","value":"ENSG00000132517.16"}],"isoformId":"Q9NWF4-1"},{"database":"Ensembl","id":"ENST00000961589.1","properties":[{"key":"ProteinId","value":"ENSP00000631648.1"},{"key":"GeneId","value":"ENSG00000132517.16"}],"isoformId":"Q9NWF4-1"},{"database":"Ensembl","id":"ENST00000961590.1","properties":[{"key":"ProteinId","value":"ENSP00000631649.1"},{"key":"GeneId","value":"ENSG00000132517.16"}],"isoformId":"Q9NWF4-1"},{"database":"Ensembl","id":"ENST00000961591.1","properties":[{"key":"ProteinId","value":"ENSP00000631650.1"},{"key":"GeneId","value":"ENSG00000132517.16"}],"isoformId":"Q9NWF4-1"},{"database":"GeneID","id":"55065","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:55065","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000254853.10","properties":[{"key":"ProteinId","value":"ENSP00000254853.5"},{"key":"RefSeqNucleotideId","value":"NM_017986.4"},{"key":"RefSeqProteinId","value":"NP_060456.3"}]},{"database":"UCSC","id":"uc002gao.5","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q9NWF4-1"},{"database":"AGR","id":"HGNC:30225","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA134991217","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"55065","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"55065","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"SLC52A1","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"SLC52A1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:30225","properties":[{"key":"GeneName","value":"SLC52A1"}]},{"database":"HPA","id":"ENSG00000132517","properties":[{"key":"ExpressionPatterns","value":"Group enriched (intestine, placenta, skin)"}]},{"database":"MalaCards","id":"SLC52A1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"607883","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"615026","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000132517","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"411712","properties":[{"key":"Disease","value":"Maternal riboflavin deficiency"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000132517","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG4255","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000003774","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_034789_1_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"WICFLLM","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"9995836at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q9NWF4","properties":[{"key":"Number of GO annotations","value":"3 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-196843","properties":[{"key":"PathwayName","value":"Vitamin B2 (riboflavin) metabolism"}]},{"database":"SignaLink","id":"Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000132517","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"55065","properties":[{"key":"hits","value":"15 hits in 1143 CRISPR screens"}]},{"database":"GenomeRNAi","id":"55065","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q9NWF4","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q9NWF4","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 17"}]},{"database":"RNAct","id":"Q9NWF4","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000132517","properties":[{"key":"ExpressionPatterns","value":"Expressed in duodenum and 78 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q9NWF4","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005886","properties":[{"key":"GoTerm","value":"C:plasma membrane"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"20463145"}]},{"database":"GO","id":"GO:0032217","properties":[{"key":"GoTerm","value":"F:riboflavin transmembrane transporter activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"20463145"}]},{"database":"GO","id":"GO:0006771","properties":[{"key":"GoTerm","value":"P:riboflavin metabolic process"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0032218","properties":[{"key":"GoTerm","value":"P:riboflavin transport"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"20463145"}]},{"database":"InterPro","id":"IPR009357","properties":[{"key":"EntryName","value":"Riboflavin_transptr"}]},{"database":"PANTHER","id":"PTHR12929","properties":[{"key":"EntryName","value":"SOLUTE CARRIER FAMILY 52"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR12929:SF20","properties":[{"key":"EntryName","value":"SOLUTE CARRIER FAMILY 52, RIBOFLAVIN TRANSPORTER, MEMBER 1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF06237","properties":[{"key":"EntryName","value":"SLC52_ribofla_tr"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAAPTLGRLVLTHLLVALFGMGSWAAVNGIWVELPVVVKDLPEGWSLPSYLSVVVALGNLGLLVVTLWRQLAPGKGEQVPIQVVQVLSVVGTALLAPLWHHVAPVAGQLHSVAFLTLALVLAMACCTSNVTFLPFLSHLPPPFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPTNGTSGPPLDFPERFPASTFFWALTALLVTSAAAFRGLLLLLPSLPSVTTGGSGPELQLGSPGAEEEEKEEEEALPLQEPPSQAAGTIPGPDPEAHQLFSAHGAFLLGLMAFTSAVTNGVLPSVQSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLVGLSLLGMLFGAYLMALAILSPCPPLVGTTAGVVLVVLSWVLCLCVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSLLGAGAMFPPTSIYHVFQSRKDCVDPCGP","length":448,"molWeight":46317,"crc64":"B9D2EDEE75405668","md5":"2619188B998E35CEE880647BFDA1B4BD"},"extraAttributes":{"countByCommentType":{"FUNCTION":2,"CATALYTIC ACTIVITY":1,"ACTIVITY REGULATION":1,"BIOPHYSICOCHEMICAL PROPERTIES":1,"INTERACTION":9,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":2,"TISSUE SPECIFICITY":1,"DISEASE":1,"MISCELLANEOUS":1,"SIMILARITY":1},"countByFeatureType":{"Chain":1,"Transmembrane":11,"Region":1,"Compositional bias":1,"Glycosylation":1,"Alternative sequence":2,"Natural variant":4},"uniParcId":"UPI000013CE68"}}