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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]
SLC52A3 (Solute Carrier Family 52 Member 3) is a Protein Coding gene. Diseases associated with SLC52A3 include Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Vitamin digestion and absorption. Gene Ontology (GO) annotations related to this gene include riboflavin transmembrane transporter activity. An important paralog of this gene is SLC52A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032217 | riboflavin transmembrane transporter activity | IDA | 20463145 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IDA | 20463145 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of water-soluble vitamins and cofactors | ||
2 | Vitamin digestion and absorption | ||
3 | Metabolism |
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006771 | riboflavin metabolic process | TAS | -- |
GO:0007605 | sensory perception of sound | IMP | 20206331 |
GO:0032218 | riboflavin transport | IDA | 20463145 |
GO:0034605 | cellular response to heat | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | - | ||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC52A3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC52A3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC52A3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc52a3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc52a3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC52A3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C20H20ORF54 30 |
|
||
SLC52A3 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | SLC52A3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486825 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc52a3 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2663 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11576 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000181 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | Y47D7A.16 30 |
|
||
rft-1 31 |
|
ManyToMany | |||
rft-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1348 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639327 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 765,448(-) | C/A | MISSENSE_VARIANT | |
642283 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 765,276(-) | C/T | MISSENSE_VARIANT | |
642968 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 761,738(-) | G/A | MISSENSE_VARIANT | |
645920 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 761,097(-) | TGAGCAGCGCTCC/T | INFRAME_DELETION | |
648925 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 763,768(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3644952 | CNV | gain | 21293372 |
esv3644961 | CNV | loss | 21293372 |
nsv1062082 | CNV | gain | 25217958 |
nsv1067424 | CNV | gain | 25217958 |
nsv516278 | CNV | loss | 19592680 |
nsv585191 | CNV | gain | 21841781 |
nsv585192 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brown-vialetto-van laere syndrome 1 |
|
|
fazio-londe disease |
|
|
brown-vialetto-van laere syndrome 2 |
|
|
brown-vialetto-van laere syndrome |
|
|
progressive bulbar palsy |
|
|