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Q9HAB3

- S52A2_HUMAN

UniProt

Q9HAB3 - S52A2_HUMAN

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Protein

Solute carrier family 52, riboflavin transporter, member 2

Gene

SLC52A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Riboflavin transporter. Riboflavin transport is Na+-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).3 Publications

Kineticsi

  1. KM=0.33 µM for riboflavin1 Publication

GO - Molecular functioni

  1. riboflavin transporter activity Source: UniProtKB
  2. virus receptor activity Source: UniProtKB-KW

GO - Biological processi

  1. riboflavin transport Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Host cell receptor for virus entry, Receptor

Keywords - Biological processi

Transport

Protein family/group databases

TCDBi9.A.53.1.3. the eukaryotic riboflavin transporter (e-rft) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 52, riboflavin transporter, member 2
Alternative name(s):
Porcine endogenous retrovirus A receptor 1
Short name:
PERV-A receptor 1
Protein GPR172A
Riboflavin transporter 3
Short name:
hRFT3
Gene namesi
Name:SLC52A2
Synonyms:GPR172A, PAR1, RFT3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:30224. SLC52A2.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]: An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti306 – 3061G → R in BVVLS2. 1 Publication
VAR_068694

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

MIMi614707. phenotype.
Orphaneti97229. Riboflavin transporter deficiency.
PharmGKBiPA134982935.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 445445Solute carrier family 52, riboflavin transporter, member 2PRO_0000042631Add
BLAST

Proteomic databases

PaxDbiQ9HAB3.
PRIDEiQ9HAB3.

PTM databases

PhosphoSiteiQ9HAB3.

Expressioni

Tissue specificityi

Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues.2 Publications

Gene expression databases

BgeeiQ9HAB3.
CleanExiHS_GPR172A.
ExpressionAtlasiQ9HAB3. baseline and differential.
GenevestigatoriQ9HAB3.

Interactioni

Protein-protein interaction databases

BioGridi122725. 2 interactions.
STRINGi9606.ENSP00000333638.

Structurei

3D structure databases

ProteinModelPortaliQ9HAB3.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei14 – 3421HelicalSequence AnalysisAdd
BLAST
Transmembranei47 – 6721HelicalSequence AnalysisAdd
BLAST
Transmembranei86 – 10621HelicalSequence AnalysisAdd
BLAST
Transmembranei112 – 13221HelicalSequence AnalysisAdd
BLAST
Transmembranei147 – 16721HelicalSequence AnalysisAdd
BLAST
Transmembranei196 – 21621HelicalSequence AnalysisAdd
BLAST
Transmembranei277 – 29721HelicalSequence AnalysisAdd
BLAST
Transmembranei312 – 33221HelicalSequence AnalysisAdd
BLAST
Transmembranei339 – 35921HelicalSequence AnalysisAdd
BLAST
Transmembranei366 – 38621HelicalSequence AnalysisAdd
BLAST
Transmembranei404 – 42421HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi219 – 2224Poly-Pro

Sequence similaritiesi

Belongs to the riboflavin transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG326568.
GeneTreeiENSGT00390000003774.
HOGENOMiHOG000247012.
HOVERGENiHBG051170.
InParanoidiQ9HAB3.
OMAiCADPCDS.
PhylomeDBiQ9HAB3.
TreeFamiTF314820.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

Q9HAB3-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAAPTPARPV LTHLLVALFG MGSWAAVNGI WVELPVVVKE LPEGWSLPSY
60 70 80 90 100
VSVLVALGNL GLLVVTLWRR LAPGKDEQVP IRVVQVLGMV GTALLASLWH
110 120 130 140 150
HVAPVAGQLH SVAFLALAFV LALACCASNV TFLPFLSHLP PRFLRSFFLG
160 170 180 190 200
QGLSALLPCV LALVQGVGRL ECPPAPINGT PGPPLDFLER FPASTFFWAL
210 220 230 240 250
TALLVASAAA FQGLLLLLPP PPSVPTGELG SGLQVGAPGA EEEVEESSPL
260 270 280 290 300
QEPPSQAAGT TPGPDPKAYQ LLSARSACLL GLLAATNALT NGVLPAVQSF
310 320 330 340 350
SCLPYGRLAY HLAVVLGSAA NPLACFLAMG VLCRSLAGLG GLSLLGVFCG
360 370 380 390 400
GYLMALAVLS PCPPLVGTSA GVVLVVLSWV LCLGVFSYVK VAASSLLHGG
410 420 430 440
GRPALLAAGV AIQVGSLLGA VAMFPPTSIY HVFHSRKDCA DPCDS
Length:445
Mass (Da):45,777
Last modified:March 1, 2001 - v1
Checksum:iB61421B956E44F84
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti341 – 3411G → S in AAL59882. (PubMed:12740431)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti306 – 3061G → R in BVVLS2. 1 Publication
VAR_068694

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY070774 mRNA. Translation: AAL59882.1.
AB522904 mRNA. Translation: BAK79010.1.
AK021918 mRNA. Translation: BAB13936.1.
AK027888 mRNA. Translation: BAB55433.1.
AK291581 mRNA. Translation: BAF84270.1.
AF205589 Genomic DNA. No translation available.
CH471162 Genomic DNA. Translation: EAW82115.1.
CH471162 Genomic DNA. Translation: EAW82116.1.
BC002917 mRNA. Translation: AAH02917.1.
CCDSiCCDS6423.1.
RefSeqiNP_001240744.1. NM_001253815.1.
NP_001240745.1. NM_001253816.1.
NP_078807.1. NM_024531.4.
XP_006716721.1. XM_006716658.1.
XP_006716722.1. XM_006716659.1.
XP_006716723.1. XM_006716660.1.
UniGeneiHs.6459.
Hs.731710.

Genome annotation databases

EnsembliENST00000329994; ENSP00000333638; ENSG00000185803.
ENST00000402965; ENSP00000385961; ENSG00000185803.
ENST00000527078; ENSP00000434728; ENSG00000185803.
ENST00000530047; ENSP00000435820; ENSG00000185803.
ENST00000532887; ENSP00000436768; ENSG00000185803.
GeneIDi79581.
KEGGihsa:79581.
UCSCiuc003zcc.2. human.

Polymorphism databases

DMDMi74734171.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY070774 mRNA. Translation: AAL59882.1 .
AB522904 mRNA. Translation: BAK79010.1 .
AK021918 mRNA. Translation: BAB13936.1 .
AK027888 mRNA. Translation: BAB55433.1 .
AK291581 mRNA. Translation: BAF84270.1 .
AF205589 Genomic DNA. No translation available.
CH471162 Genomic DNA. Translation: EAW82115.1 .
CH471162 Genomic DNA. Translation: EAW82116.1 .
BC002917 mRNA. Translation: AAH02917.1 .
CCDSi CCDS6423.1.
RefSeqi NP_001240744.1. NM_001253815.1.
NP_001240745.1. NM_001253816.1.
NP_078807.1. NM_024531.4.
XP_006716721.1. XM_006716658.1.
XP_006716722.1. XM_006716659.1.
XP_006716723.1. XM_006716660.1.
UniGenei Hs.6459.
Hs.731710.

3D structure databases

ProteinModelPortali Q9HAB3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122725. 2 interactions.
STRINGi 9606.ENSP00000333638.

Chemistry

DrugBanki DB01440. Gamma Hydroxybutyric Acid.

Protein family/group databases

TCDBi 9.A.53.1.3. the eukaryotic riboflavin transporter (e-rft) family.

PTM databases

PhosphoSitei Q9HAB3.

Polymorphism databases

DMDMi 74734171.

Proteomic databases

PaxDbi Q9HAB3.
PRIDEi Q9HAB3.

Protocols and materials databases

DNASUi 79581.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329994 ; ENSP00000333638 ; ENSG00000185803 .
ENST00000402965 ; ENSP00000385961 ; ENSG00000185803 .
ENST00000527078 ; ENSP00000434728 ; ENSG00000185803 .
ENST00000530047 ; ENSP00000435820 ; ENSG00000185803 .
ENST00000532887 ; ENSP00000436768 ; ENSG00000185803 .
GeneIDi 79581.
KEGGi hsa:79581.
UCSCi uc003zcc.2. human.

Organism-specific databases

CTDi 79581.
GeneCardsi GC08P145577.
HGNCi HGNC:30224. SLC52A2.
MIMi 607882. gene.
614707. phenotype.
neXtProti NX_Q9HAB3.
Orphaneti 97229. Riboflavin transporter deficiency.
PharmGKBi PA134982935.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326568.
GeneTreei ENSGT00390000003774.
HOGENOMi HOG000247012.
HOVERGENi HBG051170.
InParanoidi Q9HAB3.
OMAi CADPCDS.
PhylomeDBi Q9HAB3.
TreeFami TF314820.

Miscellaneous databases

GenomeRNAii 79581.
NextBioi 68566.
PROi Q9HAB3.
SOURCEi Search...

Gene expression databases

Bgeei Q9HAB3.
CleanExi HS_GPR172A.
ExpressionAtlasi Q9HAB3. baseline and differential.
Genevestigatori Q9HAB3.

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. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, FUNCTION AS A VIRAL RECEPTOR.
  2. "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: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
  3. "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].
    Tissue: Embryo and Placenta.
  4. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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].
    Tissue: Skin.
  7. "Single-round selection yields a unique retroviral envelope utilizing GPR172A as its host receptor."
    Mazari P.M., Linder-Basso D., Sarangi A., Chang Y., Roth M.J.
    Proc. Natl. Acad. Sci. U.S.A. 106:5848-5853(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS A VIRAL RECEPTOR.
  8. Cited for: VARIANT BVVLS2 ARG-306.

Entry informationi

Entry nameiS52A2_HUMAN
AccessioniPrimary (citable) accession number: Q9HAB3
Secondary accession number(s): A8K6B6
, D3DWL8, G1UCY1, Q86UT1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 100 of the entry and version 1 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 8
    Human chromosome 8: 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

Dasty 3