Homo sapiens Gene: SLC52A3 | |||||||||||||||
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Summary | |||||||||||||||
InnateDB Gene | IDBG-38373.7 | ||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
Gene Symbol | SLC52A3 | ||||||||||||||
Gene Name | solute carrier family 52, riboflavin transporter, member 3 | ||||||||||||||
Synonyms | |||||||||||||||
Species | Homo sapiens | ||||||||||||||
Ensembl Gene | ENSG00000101276 | ||||||||||||||
Encoded Proteins |
chromosome 20 open reading frame 54
chromosome 20 open reading frame 54
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Protein Structure | |||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||
Entrez Gene | |||||||||||||||
Summary |
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] |
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Gene Information | |||||||||||||||
Type | Protein coding | ||||||||||||||
Genomic Location | Chromosome 20:760080-768487 | ||||||||||||||
Strand | Reverse strand | ||||||||||||||
Band | p13 | ||||||||||||||
Transcripts |
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Interactions | |||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||
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
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KEGG | |||||||||||||||
INOH | |||||||||||||||
PID NCI | |||||||||||||||
Cross-References | |||||||||||||||
SwissProt | |||||||||||||||
TrEMBL | |||||||||||||||
UniProt Splice Variant | |||||||||||||||
Entrez Gene | |||||||||||||||
UniGene | Hs.283865 | ||||||||||||||
RefSeq | NM_033409 XM_005260655 XM_006723538 | ||||||||||||||
HUGO | |||||||||||||||
OMIM | |||||||||||||||
CCDS | CCDS13007 | ||||||||||||||
HPRD | 09843 | ||||||||||||||
IMGT | |||||||||||||||
EMBL | |||||||||||||||
GenPept | |||||||||||||||
RNA Seq Atlas | |||||||||||||||