InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC52A3

Summary

InnateDB Protein

IDBP-38375.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC52A3

Protein Name

chromosome 20 open reading frame 54

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000371370

InnateDB Gene

IDBG-38373 (SLC52A3)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:20463145}; Multi-pass membrane protein {ECO:0000269PubMed:20463145}.

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.

Tissue Specificity

Predominantly expressed in testis. Highly expressed in small intestine and prostate. {ECO:0000269PubMed:20463145}.

Comments

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.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0032217	riboflavin transporter activity

Biological Process

GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006771	riboflavin metabolic process
GO:0007605	sensory perception of sound
GO:0032218	riboflavin transport
GO:0044281	small molecule metabolic process