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Aliases for SLC52A1 Gene

Aliases for SLC52A1 Gene

  • Solute Carrier Family 52 (Riboflavin Transporter), Member 1 2 3
  • GPR172B 3 4 6
  • PAR2 3 4 6
  • Porcine Endogenous Retrovirus A Receptor 2 3 4
  • G Protein-Coupled Receptor 172B 2 3
  • Riboflavin Transporter 1 2 4
  • PERV-A Receptor 2 3 4
  • GPCR42 3 6
  • RBFVD 3 6
  • HRFT1 3 4
  • RFT1 3 4
  • Solute Carrier Family 52, Riboflavin Transporter, Member 1 3
  • G-Protein Coupled Receptor GPCR42 3
  • Protein GPR172B 4
  • FLJ10060 6
  • RFVT1 3

External Ids for SLC52A1 Gene

Previous HGNC Symbols for SLC52A1 Gene

  • GPR172B

Previous GeneCards Identifiers for SLC52A1 Gene

  • GC17M004936

Summaries for SLC52A1 Gene

Entrez Gene Summary for SLC52A1 Gene

  • Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]

GeneCards Summary for SLC52A1 Gene

SLC52A1 (Solute Carrier Family 52 (Riboflavin Transporter), Member 1) is a Protein Coding gene. Diseases associated with SLC52A1 include riboflavin deficiency and transient neonatal multiple acyl-coa dehydrogenase deficiency. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include virus receptor activity and riboflavin transporter activity. An important paralog of this gene is SLC52A2.

UniProtKB/Swiss-Prot for SLC52A1 Gene

  • 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). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC52A1 Gene

Genomics for SLC52A1 Gene

Genomic Location for SLC52A1 Gene

Start:
5,032,416 bp from pter
End:
5,052,009 bp from pter
Size:
19,594 bases
Orientation:
Minus strand

Genomic View for SLC52A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC52A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC52A1 Gene

No data available for Regulatory Elements for SLC52A1 Gene

Proteins for SLC52A1 Gene

  • Protein details for SLC52A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWF4-S52A1_HUMAN
    Recommended name:
    Solute carrier family 52, riboflavin transporter, member 1
    Protein Accession:
    Q9NWF4
    Secondary Accessions:
    • B5MEV1
    • B5MEV2
    • Q6P9E0
    • Q86UT0

    Protein attributes for SLC52A1 Gene

    Size:
    448 amino acids
    Molecular mass:
    46317 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC52A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC52A1 Gene

Proteomics data for SLC52A1 Gene at MOPED

Post-translational modifications for SLC52A1 Gene

  • Glycosylation at Asn178
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC52A1 Gene

No data available for DME Specific Peptides for SLC52A1 Gene

Domains for SLC52A1 Gene

Gene Families for SLC52A1 Gene

HGNC:
  • SLC :Solute carriers

Protein Domains for SLC52A1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NWF4

UniProtKB/Swiss-Prot:

S52A1_HUMAN :
  • Q9NWF4
Family:
  • Belongs to the riboflavin transporter family.
genes like me logo Genes that share domains with SLC52A1: view

No data available for Suggested Antigen Peptide Sequences for SLC52A1 Gene

Function for SLC52A1 Gene

Molecular function for SLC52A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=1.38 uM for riboflavin {ECO:0000269 PubMed:20463145};
UniProtKB/Swiss-Prot Function: 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). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).

Gene Ontology (GO) - Molecular Function for SLC52A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0032217 riboflavin transporter activity IDA 20463145
genes like me logo Genes that share ontologies with SLC52A1: view

Phenotypes for SLC52A1 Gene

genes like me logo Genes that share phenotypes with SLC52A1: view

Animal Model Products

CRISPR Products

miRNA for SLC52A1 Gene

miRTarBase miRNAs that target SLC52A1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC52A1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC52A1 Gene

Localization for SLC52A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC52A1 Gene

Cell membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for SLC52A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 20463145
genes like me logo Genes that share ontologies with SLC52A1: view

No data available for Subcellular locations from COMPARTMENTS for SLC52A1 Gene

Pathways for SLC52A1 Gene

genes like me logo Genes that share pathways with SLC52A1: view

Interacting Proteins for SLC52A1 Gene

Selected Interacting proteins: Q9NWF4-S52A1_HUMAN for SLC52A1 Gene via I2D

Symbol External ID(s) Details
PLA2G4A

Gene Ontology (GO) - Biological Process for SLC52A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009615 response to virus --
GO:0032218 riboflavin transport IDA 20463145
GO:0046718 viral entry into host cell IEA --
genes like me logo Genes that share ontologies with SLC52A1: view

Transcripts for SLC52A1 Gene

Unigene Clusters for SLC52A1 Gene

Solute carrier family 52, riboflavin transporter, member 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC52A1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC52A1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5
SP1: -
SP2:

Relevant External Links for SLC52A1 Gene

GeneLoc Exon Structure for
SLC52A1
ECgene alternative splicing isoforms for
SLC52A1

Expression for SLC52A1 Gene

mRNA expression in normal human tissues for SLC52A1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC52A1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (16.3), Skin - Sun Exposed (Lower leg) (9.2), and Skin - Not Sun Exposed (Suprapubic) (5.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC52A1 Gene

SOURCE GeneReport for Unigene cluster for SLC52A1 Gene Hs.632247

mRNA Expression by UniProt/SwissProt for SLC52A1 Gene

Q9NWF4-S52A1_HUMAN
Tissue specificity: Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower level in other tissues.
genes like me logo Genes that share expressions with SLC52A1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLC52A1 Gene

Orthologs for SLC52A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC52A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPR172B 35
  • 99.48 (n)
  • 99.11 (a)
SLC52A1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GPR172B 36
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 69 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Slc52a2 36
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 54 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.6678 35
zebrafish
(Danio rerio)
Actinopterygii wufc11c06 35
zgc:91890 36
  • 39 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11576 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rft-1 36
  • 32 (a)
ManyToMany
rft-2 36
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1348 36
  • 31 (a)
OneToMany
Species with no ortholog for SLC52A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC52A1 Gene

ENSEMBL:
Gene Tree for SLC52A1 (if available)
TreeFam:
Gene Tree for SLC52A1 (if available)

Paralogs for SLC52A1 Gene

Paralogs for SLC52A1 Gene

Selected SIMAP similar genes for SLC52A1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC52A1: view

Variants for SLC52A1 Gene

Sequence variations from dbSNP and Humsavar for SLC52A1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs346819 -- 5,031,948(-) TGCTA(A/C/G/T)TTCTG downstream-variant-500B
rs346820 -- 5,032,537(-) GCTTA(C/T)CTCTT downstream-variant-500B, utr-variant-3-prime
rs346821 - 5,033,677(+) GATGG(A/G)CCTCA reference, missense
rs346822 - 5,034,280(-) GAGGC(A/G)GCTGG reference, missense
rs346823 -- 5,034,608(+) CCATT(A/C)AGCCC utr-variant-5-prime

Relevant External Links for SLC52A1 Gene

HapMap Linkage Disequilibrium report
SLC52A1
Human Gene Mutation Database (HGMD)
SLC52A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC52A1 Gene

Disorders for SLC52A1 Gene

(1) OMIM Diseases for SLC52A1 Gene (607883)

UniProtKB/Swiss-Prot

S52A1_HUMAN
  • Riboflavin deficiency (RBFVD) [MIM:615026]: 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. {ECO:0000269 PubMed:21089064}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with SLC52A1: view

Publications for SLC52A1 Gene

  1. Identification of receptors for pig endogenous retrovirus. (PMID: 12740431) Ericsson T.A. … Patience C. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 23
  2. Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1. (PMID: 18632736) Yonezawa A. … Inui K. (Am. J. Physiol. 2008) 2 3 4
  3. Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain. (PMID: 20463145) Yao Y. … Inui K. (J. Nutr. 2010) 3 4
  4. Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. (PMID: 21089064) Ho G. … Christodoulou J. (Hum. Mutat. 2011) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for SLC52A1 Gene

Sources for SLC52A1 Gene

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