Mus musculus Gene: Slc52a3
Summary
InnateDB Gene IDBG-209596.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Slc52a3
Gene Name solute carrier protein family 52, member 3
Synonyms 2310046K01Rik; RFT2
Species Mus musculus
Ensembl Gene ENSMUSG00000027463
Encoded Proteins
RIKEN cDNA 2310046K01 gene
RIKEN cDNA 2310046K01 gene
RIKEN cDNA 2310046K01 gene
RIKEN cDNA 2310046K01 gene
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000101276:
This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:151996511-152009258
Strand Forward strand
Band G3
Transcripts
ENSMUST00000073228 ENSMUSP00000072961
ENSMUST00000109861 ENSMUSP00000105487
ENSMUST00000109859 ENSMUSP00000105485
ENSMUST00000109858 ENSMUSP00000105484
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0032217 riboflavin transporter activity
Biological Process
GO:0007605 sensory perception of sound
GO:0032218 riboflavin transport
GO:0034605 cellular response to heat
Cellular Component
GO:0005887 integral component of plasma membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Vitamin B2 (riboflavin) metabolism pathway
Metabolism pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective GIF causes intrinsic factor deficiency pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective CD320 causes methylmalonic aciduria pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Metabolism of vitamins and cofactors pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defects in vitamin and cofactor metabolism pathway
Defects in cobalamin (B12) metabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Defective HLCS causes multiple carboxylase deficiency pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Vitamin B2 (riboflavin) metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in cobalamin (B12) metabolism pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defects in vitamin and cofactor metabolism pathway
Defects in biotin (Btn) metabolism pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Vitamin B2 (riboflavin) metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective BTD causes biotidinase deficiency pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CD320 causes methylmalonic aciduria pathway
Metabolism of water-soluble vitamins and cofactors pathway
Metabolism of vitamins and cofactors pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Disease pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.258262
RefSeq NM_001164819 NM_001164820 NM_027172
OMIM
CCDS CCDS16876 CCDS50749
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas