SLC52A1 (solute carrier family 52 member 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55065
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 52 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC52A1
Synonyms (NCBI Gene) Gene synonyms aliases
GPCR42, GPR172B, PAR2, RBFVD, RFT1, RFVT1, hRFT1, huPAR-2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
Summary Summary of gene provided in NCBI Entrez 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 (vi
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017822 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 20463145
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607883 30225 ENSG00000132517
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NWF4
Protein name 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)
Protein 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, PubMe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06237 DUF1011 276 → 374 Protein of unknown function (DUF1011) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower level in other tissues. {ECO:0000269|PubMed:12740431, ECO:0000269|PubMed:18632736, ECO:0000269|PubMed:20463145}.
Sequence 
MAAPTLGRLVLTHLLVALFGMGSWAAVNGIWVELPVVVKDLPEGWSLPSYLSVVVALGNL
GLLVVTLWRQLAPGKGEQVPIQVVQVLSVVGTALLAPLWHHVAPVAGQLHSVAFLTLALV
LAMACCTSNVTFLPFLSHLPPPFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPTNGT
SGPPLDFPERFPASTFFWALTALLVTSAAAFRGLLLLLPSLPSVTTGGSGPELQLGSPGA
EEEEKEEEEALPLQEPPSQAAGTIPGPDPEAHQLFSAHGAFLLGLMAFTSAVTNGVLPSV
QSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLVGLSLLGMLFGAYLMALA
ILSPCPPLVGTTAGVVLVVLSWVLCLCVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSL
LGAGAMFPPTSIYHVFQSRKDCVDPCGP
Sequence length 448
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Vitamin B2 (riboflavin) metabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lung adenocarcinoma Lung adenocarcinoma N/A N/A GWAS
Maternal Riboflavin Deficiency maternal riboflavin deficiency N/A N/A GenCC
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Brown Vialetto Van Laere syndrome Associate 28382968
Carcinoma Non Small Cell Lung Associate 33860055
Motor Neuron Disease Associate 24139842
Multiple Acyl Coenzyme A Dehydrogenase Deficiency Associate 37510312
Myopathy with Giant Abnormal Mitochondria Associate 34524871
Neoplasms Associate 34524871
Nerve Degeneration Associate 28382968
Riboflavin Deficiency Associate 37510312