Q9HAB3 · S52A2_HUMAN
- ProteinSolute carrier family 52, riboflavin transporter, member 2
- GeneSLC52A2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids445 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554).
Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
May also act as a receptor for 4-hydroxybutyrate (Probable)
Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
May also act as a receptor for 4-hydroxybutyrate (Probable)
(Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).
Catalytic activity
- riboflavin(in) = riboflavin(out)
Activity regulation
Riboflavin transport is Na+-independent but moderately pH-sensitive (PubMed:20463145).
Activity is strongly inhibited by riboflavin analogs, such as lumiflavin (PubMed:20463145).
Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) (PubMed:20463145).
Activity is strongly inhibited by riboflavin analogs, such as lumiflavin (PubMed:20463145).
Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) (PubMed:20463145).
Kinetics
KM | SUBSTRATE | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|---|
0.33 μM | riboflavin |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | plasma membrane | |
Molecular Function | 4-hydroxybutyrate receptor activity | |
Molecular Function | riboflavin transmembrane transporter activity | |
Molecular Function | virus receptor activity | |
Biological Process | riboflavin metabolic process | |
Biological Process | riboflavin transport |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameSolute carrier family 52, riboflavin transporter, member 2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9HAB3
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 14-34 | Helical | ||||
Sequence: LLVALFGMGSWAAVNGIWVEL | ||||||
Transmembrane | 47-67 | Helical | ||||
Sequence: LPSYVSVLVALGNLGLLVVTL | ||||||
Transmembrane | 86-106 | Helical | ||||
Sequence: VLGMVGTALLASLWHHVAPVA | ||||||
Transmembrane | 112-132 | Helical | ||||
Sequence: VAFLALAFVLALACCASNVTF | ||||||
Transmembrane | 147-167 | Helical | ||||
Sequence: FFLGQGLSALLPCVLALVQGV | ||||||
Transmembrane | 196-216 | Helical | ||||
Sequence: FFWALTALLVASAAAFQGLLL | ||||||
Transmembrane | 277-297 | Helical | ||||
Sequence: ACLLGLLAATNALTNGVLPAV | ||||||
Transmembrane | 312-332 | Helical | ||||
Sequence: LAVVLGSAANPLACFLAMGVL | ||||||
Transmembrane | 339-359 | Helical | ||||
Sequence: LGGLSLLGVFCGGYLMALAVL | ||||||
Transmembrane | 366-386 | Helical | ||||
Sequence: VGTSAGVVLVVLSWVLCLGVF | ||||||
Transmembrane | 404-424 | Helical | ||||
Sequence: ALLAAGVAIQVGSLLGAVAMF |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Brown-Vialetto-Van Laere syndrome 2 (BVVLS2)
- Note
- DescriptionAn autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation.
- See alsoMIM:614707
Natural variants in BVVLS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_077433 | 31 | W>S | in BVVLS2; strong decrease in riboflavin transport; no effect on localization to plasma membrane; no effect on protein abundance; dbSNP:rs797045199 | |
VAR_077434 | 52 | S>F | in BVVLS2; decreased riboflavin transport; dbSNP:rs397514657 | |
VAR_077435 | 123 | L>P | in BVVLS2; strongly decreased riboflavin transport; dbSNP:rs397514538 | |
VAR_077436 | 141 | P>T | in BVVLS2; decreased riboflavin transport; no effect on localization to plasma membrane; dbSNP:rs377740960 | |
VAR_077437 | 284 | A>D | in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance; dbSNP:rs398123067 | |
VAR_077438 | 305 | Y>C | in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance; dbSNP:rs398123068 | |
VAR_068694 | 306 | G>R | in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance; dbSNP:rs398124641 | |
VAR_077439 | 312 | L>P | in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance; dbSNP:rs754320812 | |
VAR_077440 | 339 | L>P | in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance; dbSNP:rs148234606 | |
VAR_077441 | 419 | G>S | in BVVLS2; decreased riboflavin transport; dbSNP:rs397514658 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_077433 | 31 | in BVVLS2; strong decrease in riboflavin transport; no effect on localization to plasma membrane; no effect on protein abundance; dbSNP:rs797045199 | |||
Sequence: W → S | ||||||
Natural variant | VAR_077434 | 52 | in BVVLS2; decreased riboflavin transport; dbSNP:rs397514657 | |||
Sequence: S → F | ||||||
Natural variant | VAR_077435 | 123 | in BVVLS2; strongly decreased riboflavin transport; dbSNP:rs397514538 | |||
Sequence: L → P | ||||||
Natural variant | VAR_077436 | 141 | in BVVLS2; decreased riboflavin transport; no effect on localization to plasma membrane; dbSNP:rs377740960 | |||
Sequence: P → T | ||||||
Natural variant | VAR_077437 | 284 | in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance; dbSNP:rs398123067 | |||
Sequence: A → D | ||||||
Natural variant | VAR_077438 | 305 | in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance; dbSNP:rs398123068 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_068694 | 306 | in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance; dbSNP:rs398124641 | |||
Sequence: G → R | ||||||
Natural variant | VAR_077439 | 312 | in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance; dbSNP:rs754320812 | |||
Sequence: L → P | ||||||
Natural variant | VAR_077440 | 339 | in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance; dbSNP:rs148234606 | |||
Sequence: L → P | ||||||
Natural variant | VAR_077441 | 419 | in BVVLS2; decreased riboflavin transport; dbSNP:rs397514658 | |||
Sequence: G → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,119 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000042631 | 1-445 | Solute carrier family 52, riboflavin transporter, member 2 | |||
Sequence: MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVPIRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS |
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9HAB3 | CDC23 Q9UJX2 | 3 | EBI-10309896, EBI-396137 | |
BINARY | Q9HAB3 | FAM209A Q5JX71 | 3 | EBI-10309896, EBI-18304435 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 228-264 | Disordered | ||||
Sequence: ELGSGLQVGAPGAEEEVEESSPLQEPPSQAAGTTPGP |
Sequence similarities
Belongs to the riboflavin transporter family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length445
- Mass (Da)45,777
- Last updated2001-03-01 v1
- ChecksumB61421B956E44F84
Computationally mapped potential isoform sequences
There are 11 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A6Q8PFH5 | A0A6Q8PFH5_HUMAN | SLC52A2 | 106 | ||
A0A6Q8PFQ5 | A0A6Q8PFQ5_HUMAN | SLC52A2 | 80 | ||
A0A6Q8PG35 | A0A6Q8PG35_HUMAN | SLC52A2 | 262 | ||
A0A6Q8PGE2 | A0A6Q8PGE2_HUMAN | SLC52A2 | 97 | ||
A0A6Q8PGB9 | A0A6Q8PGB9_HUMAN | SLC52A2 | 439 | ||
A0A6Q8PHF8 | A0A6Q8PHF8_HUMAN | SLC52A2 | 357 | ||
E9PRC3 | E9PRC3_HUMAN | SLC52A2 | 69 | ||
E9PPS0 | E9PPS0_HUMAN | SLC52A2 | 87 | ||
E9PIX2 | E9PIX2_HUMAN | SLC52A2 | 172 | ||
E9PJC1 | E9PJC1_HUMAN | SLC52A2 | 111 | ||
E9PKE4 | E9PKE4_HUMAN | SLC52A2 | 281 |
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 341 | in Ref. 1; AAL59882 | ||||
Sequence: G → S |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY070774 EMBL· GenBank· DDBJ | AAL59882.1 EMBL· GenBank· DDBJ | mRNA | ||
AB522904 EMBL· GenBank· DDBJ | BAK79010.1 EMBL· GenBank· DDBJ | mRNA | ||
AK021918 EMBL· GenBank· DDBJ | BAB13936.1 EMBL· GenBank· DDBJ | mRNA | ||
AK027888 EMBL· GenBank· DDBJ | BAB55433.1 EMBL· GenBank· DDBJ | mRNA | ||
AK291581 EMBL· GenBank· DDBJ | BAF84270.1 EMBL· GenBank· DDBJ | mRNA | ||
AF205589 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471162 EMBL· GenBank· DDBJ | EAW82115.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471162 EMBL· GenBank· DDBJ | EAW82116.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC002917 EMBL· GenBank· DDBJ | AAH02917.1 EMBL· GenBank· DDBJ | mRNA |