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Q9NQ40

- S52A3_HUMAN

UniProt

Q9NQ40 - S52A3_HUMAN

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Protein

Solute carrier family 52, riboflavin transporter, member 3

Gene

SLC52A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Transporter for riboflavin, which must be obtained as a nutrient via intestinal absorption. Riboflavin transport is Na+-independent at low pH but significantly reduced by Na+ depletion under neutral pH conditions. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by methylene blue, and to a lesser extent by amiloride.2 Publications

Kineticsi

  1. KM=0.98 µM for riboflavin1 Publication

GO - Molecular functioni

  1. riboflavin transporter activity Source: UniProtKB

GO - Biological processi

  1. cellular response to heat Source: Ensembl
  2. riboflavin metabolic process Source: Reactome
  3. riboflavin transport Source: UniProtKB
  4. sensory perception of sound Source: UniProtKB
  5. small molecule metabolic process Source: Reactome
  6. vitamin metabolic process Source: Reactome
  7. water-soluble vitamin metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_11070. Vitamin B2 (riboflavin) metabolism.

Protein family/group databases

TCDBi9.A.53.1.2. the eukaryotic riboflavin transporter (e-rft) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 52, riboflavin transporter, member 3
Alternative name(s):
Riboflavin transporter 2
Short name:
hRFT2
Gene namesi
Name:SLC52A3
Synonyms:C20orf54, RFT2, RFVT3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:16187. SLC52A3.

Subcellular locationi

Apical cell membrane 3 Publications; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 22CytoplasmicSequence Analysis
Transmembranei3 – 2321HelicalSequence AnalysisAdd
BLAST
Topological domaini24 – 4320ExtracellularSequence AnalysisAdd
BLAST
Transmembranei44 – 6421HelicalSequence AnalysisAdd
BLAST
Topological domaini65 – 717CytoplasmicSequence Analysis
Transmembranei72 – 9221HelicalSequence AnalysisAdd
BLAST
Topological domaini93 – 975ExtracellularSequence Analysis
Transmembranei98 – 11821HelicalSequence AnalysisAdd
BLAST
Topological domaini119 – 13719CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei138 – 15821HelicalSequence AnalysisAdd
BLAST
Topological domaini159 – 22062ExtracellularSequence AnalysisAdd
BLAST
Transmembranei221 – 24121HelicalSequence AnalysisAdd
BLAST
Topological domaini242 – 29251CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei293 – 31321HelicalSequence AnalysisAdd
BLAST
Topological domaini314 – 33522ExtracellularSequence AnalysisAdd
BLAST
Transmembranei336 – 35621HelicalSequence AnalysisAdd
BLAST
Topological domaini357 – 3593CytoplasmicSequence Analysis
Transmembranei360 – 38021HelicalSequence AnalysisAdd
BLAST
Topological domaini381 – 39616ExtracellularSequence AnalysisAdd
BLAST
Transmembranei397 – 41721HelicalSequence AnalysisAdd
BLAST
Topological domaini418 – 42710CytoplasmicSequence Analysis
Transmembranei428 – 44821HelicalSequence AnalysisAdd
BLAST
Topological domaini449 – 46921ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: UniProtKB
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]: A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361E → K in BVVLS1. 1 Publication
VAR_063694
Natural varianti132 – 1321R → W in BVVLS1. 1 Publication
VAR_063695
Natural varianti224 – 2241F → L in BVVLS1. 1 Publication
VAR_063696
Natural varianti413 – 4131V → A in BVVLS1; may cause a mild form of the disease. 1 Publication
VAR_063700
Natural varianti457 – 4571F → L in BVVLS1. 1 Publication
VAR_063701
Fazio-Londe disease (FALOND) [MIM:211500]: A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi326 – 3261C → A: No effect on cell surface localization. 1 Publication
Mutagenesisi386 – 3861C → A: Abolishes cell surface localization. 1 Publication
Mutagenesisi455 – 4551R → A: No effect on cell surface localization. 1 Publication
Mutagenesisi463 – 4631C → A: Abolishes cell surface localization. 1 Publication
Mutagenesisi467 – 4671C → A: Abolishes cell surface localization. 1 Publication

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

MIMi211500. phenotype.
211530. phenotype.
Orphaneti97229. Riboflavin transporter deficiency.
PharmGKBiPA25764.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 469469Solute carrier family 52, riboflavin transporter, member 3PRO_0000042636Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi94 – 941N-linked (GlcNAc...)Sequence Analysis
Glycosylationi168 – 1681N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi386 ↔ 4631 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PRIDEiQ9NQ40.

PTM databases

PhosphoSiteiQ9NQ40.

Expressioni

Tissue specificityi

Predominantly expressed in testis. Highly expressed in small intestine and prostate.1 Publication

Gene expression databases

BgeeiQ9NQ40.
CleanExiHS_C20orf54.
ExpressionAtlasiQ9NQ40. baseline and differential.
GenevestigatoriQ9NQ40.

Organism-specific databases

HPAiHPA049391.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000217254.

Structurei

3D structure databases

ProteinModelPortaliQ9NQ40.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the riboflavin transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG326568.
GeneTreeiENSGT00390000003774.
HOGENOMiHOG000247012.
HOVERGENiHBG051170.
InParanoidiQ9NQ40.
KOiK14620.
OMAiWVLDGHH.
OrthoDBiEOG7XDBFX.
PhylomeDBiQ9NQ40.
TreeFamiTF314820.

Family and domain databases

InterProiIPR009357. Endogenous_retrovirus_rcpt.
[Graphical view]
PANTHERiPTHR12929. PTHR12929. 1 hit.
PfamiPF06237. DUF1011. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NQ40-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAFLMHLLVC VFGMGSWVTI NGLWVELPLL VMELPEGWYL PSYLTVVIQL
60 70 80 90 100
ANIGPLLVTL LHHFRPSCLS EVPIIFTLLG VGTVTCIIFA FLWNMTSWVL
110 120 130 140 150
DGHHSIAFLV LTFFLALVDC TSSVTFLPFM SRLPTYYLTT FFVGEGLSGL
160 170 180 190 200
LPALVALAQG SGLTTCVNVT EISDSVPSPV PTRETDIAQG VPRALVSALP
210 220 230 240 250
GMEAPLSHLE SRYLPAHFSP LVFFLLLSIM MACCLVAFFV LQRQPRCWEA
260 270 280 290 300
SVEDLLNDQV TLHSIRPREE NDLGPAGTVD SSQGQGYLEE KAAPCCPAHL
310 320 330 340 350
AFIYTLVAFV NALTNGMLPS VQTYSCLSYG PVAYHLAATL SIVANPLASL
360 370 380 390 400
VSMFLPNRSL LFLGVLSVLG TCFGGYNMAM AVMSPCPLLQ GHWGGEVLIV
410 420 430 440 450
ASWVLFSGCL SYVKVMLGVV LRDLSRSALL WCGAAVQLGS LLGALLMFPL
460
VNVLRLFSSA DFCNLHCPA
Length:469
Mass (Da):50,805
Last modified:November 22, 2005 - v4
Checksum:i239ED67348C93739
GO
Isoform 2 (identifier: Q9NQ40-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     401-415: ASWVLFSGCLSYVKV → SIRPVGLLPLRTPHP
     416-469: Missing.

Note: No experimental confirmation available.

Show »
Length:415
Mass (Da):45,043
Checksum:i8E072208A8998A56
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti11 – 111V → D in BAF84395. (PubMed:14702039)Curated
Sequence conflicti199 – 1991L → P in BAC11113. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361E → K in BVVLS1. 1 Publication
VAR_063694
Natural varianti74 – 741I → M.
Corresponds to variant rs35655964 [ dbSNP | Ensembl ].
VAR_053565
Natural varianti132 – 1321R → W in BVVLS1. 1 Publication
VAR_063695
Natural varianti174 – 1741D → G.
Corresponds to variant rs6054614 [ dbSNP | Ensembl ].
VAR_053566
Natural varianti224 – 2241F → L in BVVLS1. 1 Publication
VAR_063696
Natural varianti267 – 2671P → L.1 Publication
Corresponds to variant rs3746804 [ dbSNP | Ensembl ].
VAR_053567
Natural varianti278 – 2781T → M.1 Publication
Corresponds to variant rs3746803 [ dbSNP | Ensembl ].
VAR_053568
Natural varianti303 – 3031I → V.1 Publication
Corresponds to variant rs3746802 [ dbSNP | Ensembl ].
VAR_053569
Natural varianti350 – 3501L → M May be a common polymorphism. 1 Publication
Corresponds to variant rs76947760 [ dbSNP | Ensembl ].
VAR_063698
Natural varianti411 – 4111S → R.
Corresponds to variant rs910857 [ dbSNP | Ensembl ].
VAR_063699
Natural varianti413 – 4131V → A in BVVLS1; may cause a mild form of the disease. 1 Publication
VAR_063700
Natural varianti457 – 4571F → L in BVVLS1. 1 Publication
VAR_063701

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei401 – 41515ASWVL…SYVKV → SIRPVGLLPLRTPHP in isoform 2. 1 PublicationVSP_003814Add
BLAST
Alternative sequencei416 – 46954Missing in isoform 2. 1 PublicationVSP_003815Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074650 mRNA. Translation: BAC11113.1.
AK291706 mRNA. Translation: BAF84395.1.
AL118502 Genomic DNA. Translation: CAH73077.2.
AL118502 Genomic DNA. Translation: CAH73078.2.
BC009750 mRNA. Translation: AAH09750.2.
CCDSiCCDS13007.1. [Q9NQ40-1]
RefSeqiNP_212134.3. NM_033409.3. [Q9NQ40-1]
XP_005260712.1. XM_005260655.2. [Q9NQ40-1]
XP_006723601.1. XM_006723538.1. [Q9NQ40-1]
UniGeneiHs.283865.

Genome annotation databases

EnsembliENST00000217254; ENSP00000217254; ENSG00000101276. [Q9NQ40-1]
ENST00000381944; ENSP00000371370; ENSG00000101276. [Q9NQ40-2]
GeneIDi113278.
KEGGihsa:113278.
UCSCiuc002wed.4. human. [Q9NQ40-1]
uc002wee.2. human. [Q9NQ40-2]

Polymorphism databases

DMDMi82654931.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074650 mRNA. Translation: BAC11113.1 .
AK291706 mRNA. Translation: BAF84395.1 .
AL118502 Genomic DNA. Translation: CAH73077.2 .
AL118502 Genomic DNA. Translation: CAH73078.2 .
BC009750 mRNA. Translation: AAH09750.2 .
CCDSi CCDS13007.1. [Q9NQ40-1 ]
RefSeqi NP_212134.3. NM_033409.3. [Q9NQ40-1 ]
XP_005260712.1. XM_005260655.2. [Q9NQ40-1 ]
XP_006723601.1. XM_006723538.1. [Q9NQ40-1 ]
UniGenei Hs.283865.

3D structure databases

ProteinModelPortali Q9NQ40.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000217254.

Protein family/group databases

TCDBi 9.A.53.1.2. the eukaryotic riboflavin transporter (e-rft) family.

PTM databases

PhosphoSitei Q9NQ40.

Polymorphism databases

DMDMi 82654931.

Proteomic databases

PRIDEi Q9NQ40.

Protocols and materials databases

DNASUi 113278.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000217254 ; ENSP00000217254 ; ENSG00000101276 . [Q9NQ40-1 ]
ENST00000381944 ; ENSP00000371370 ; ENSG00000101276 . [Q9NQ40-2 ]
GeneIDi 113278.
KEGGi hsa:113278.
UCSCi uc002wed.4. human. [Q9NQ40-1 ]
uc002wee.2. human. [Q9NQ40-2 ]

Organism-specific databases

CTDi 113278.
GeneCardsi GC20M000741.
H-InvDB HIX0015557.
HGNCi HGNC:16187. SLC52A3.
HPAi HPA049391.
MIMi 211500. phenotype.
211530. phenotype.
613350. gene.
neXtProti NX_Q9NQ40.
Orphaneti 97229. Riboflavin transporter deficiency.
PharmGKBi PA25764.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326568.
GeneTreei ENSGT00390000003774.
HOGENOMi HOG000247012.
HOVERGENi HBG051170.
InParanoidi Q9NQ40.
KOi K14620.
OMAi WVLDGHH.
OrthoDBi EOG7XDBFX.
PhylomeDBi Q9NQ40.
TreeFami TF314820.

Enzyme and pathway databases

Reactomei REACT_11070. Vitamin B2 (riboflavin) metabolism.

Miscellaneous databases

GeneWikii C20orf54.
GenomeRNAii 113278.
NextBioi 78824.
PROi Q9NQ40.
SOURCEi Search...

Gene expression databases

Bgeei Q9NQ40.
CleanExi HS_C20orf54.
ExpressionAtlasi Q9NQ40. baseline and differential.
Genevestigatori Q9NQ40.

Family and domain databases

InterProi IPR009357. Endogenous_retrovirus_rcpt.
[Graphical view ]
PANTHERi PTHR12929. PTHR12929. 1 hit.
Pfami PF06237. DUF1011. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    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.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Mammary gland and Placenta.
  2. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS LEU-267; MET-278 AND VAL-303.
    Tissue: Pancreas.
  4. "Identification and functional characterization of rat riboflavin transporter 2."
    Yamamoto S., Inoue K., Ohta K.Y., Fukatsu R., Maeda J.Y., Yoshida Y., Yuasa H.
    J. Biochem. 145:437-443(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  5. "Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain."
    Yao Y., Yonezawa A., Yoshimatsu H., Masuda S., Katsura T., Inui K.
    J. Nutr. 140:1220-1226(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
  6. "Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells."
    Subramanian V.S., Rapp L., Marchant J.S., Said H.M.
    Am. J. Physiol. 301:G100-G109(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TOPOLOGY, DISULFIDE BOND, MUTAGENESIS OF CYS-326; CYS-386; ARG-455; CYS-463 AND CYS-467.
  7. "Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment."
    Bosch A.M., Abeling N.G., Ijlst L., Knoester H., van der Pol W.L., Stroomer A.E., Wanders R.J., Visser G., Wijburg F.A., Duran M., Waterham H.R.
    J. Inherit. Metab. Dis. 34:159-164(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN FALOND.
  8. "Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption."
    Yoshimatsu H., Yonezawa A., Yao Y., Sugano K., Nakagawa S., Omura T., Matsubara K.
    Am. J. Physiol. 306:G102-G110(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  9. "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54."
    Green P., Wiseman M., Crow Y.J., Houlden H., Riphagen S., Lin J.P., Raymond F.L., Childs A.M., Sheridan E., Edwards S., Josifova D.J.
    Am. J. Hum. Genet. 86:485-489(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BVVLS1 LYS-36; TRP-132; LEU-224; ALA-413 AND LEU-457, VARIANT MET-350.

Entry informationi

Entry nameiS52A3_HUMAN
AccessioniPrimary (citable) accession number: Q9NQ40
Secondary accession number(s): A8K6P1
, Q5W1A0, Q5W1A1, Q8NCL7, Q96GD5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: November 22, 2005
Last modified: October 29, 2014
This is version 113 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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