InnateDB Protein
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IDBP-38375.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC52A3
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Protein Name
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chromosome 20 open reading frame 54
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000371370
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InnateDB Gene
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IDBG-38373 (SLC52A3)
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Protein Structure
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Function |
Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and to a lesser extent by amiloride. {ECO:0000269PubMed:20463145}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:20463145}; Multi-pass membrane protein {ECO:0000269PubMed:20463145}.
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Disease Associations |
Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]: A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise. {ECO:0000269PubMed:20206331}. Note=The disease is caused by mutations affecting the gene represented in this entry.Fazio-Londe disease (FALOND) [MIM:211500]: A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. {ECO:0000269PubMed:21110228}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Predominantly expressed in testis. Highly expressed in small intestine and prostate. {ECO:0000269PubMed:20463145}.
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Comments |
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Number of Interactions
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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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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0032217
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riboflavin transporter activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009357
Endogenous retrovirus receptor
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PFAM |
PF06237
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NQ40
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
113278
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UniGene |
Hs.283865
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RefSeq |
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HUGO |
HGNC:16187
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OMIM |
613350
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CCDS |
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HPRD |
09843
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IMGT |
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EMBL |
AK074650
AK291706
AL118502
BC009750
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GenPept |
AAH09750
BAC11113
BAF84395
CAH73077
CAH73078
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