SLC52A3
Solute carrier family 52, riboflavin transporter, member 3
Also known as: bA371L19.1, C20orf54, hRFT2, RFVT3, S52A3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NQ40
- Gene
- SLC52A3
- Ensembl
- ENSG00000101276
- Chromosome
- 20
- Canonical length
- 469 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
469 residues, UniProt reviewed canonical sequence.
>Q9NQ40|SLC52A3
1 MAFLMHLLVC VFGMGSWVTI NGLWVELPLL VMELPEGWYL PSYLTVVIQL ANIGPLLVTL
61 LHHFRPSCLS EVPIIFTLLG VGTVTCIIFA FLWNMTSWVL DGHHSIAFLV LTFFLALVDC
121 TSSVTFLPFM SRLPTYYLTT FFVGEGLSGL LPALVALAQG SGLTTCVNVT EISDSVPSPV
181 PTRETDIAQG VPRALVSALP GMEAPLSHLE SRYLPAHFSP LVFFLLLSIM MACCLVAFFV
241 LQRQPRCWEA SVEDLLNDQV TLHSIRPREE NDLGPAGTVD SSQGQGYLEE KAAPCCPAHL
301 AFIYTLVAFV NALTNGMLPS VQTYSCLSYG PVAYHLAATL SIVANPLASL VSMFLPNRSL
361 LFLGVLSVLG TCFGGYNMAM AVMSPCPLLQ GHWGGEVLIV ASWVLFSGCL SYVKVMLGVV
421 LRDLSRSALL WCGAAVQLGS LLGALLMFPL VNVLRLFSSA DFCNLHCPALocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC52A3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 11
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 47 nTPM
Expression across tissuesHPA
Tissue
- testis: 47 nTPM
- small intestine: 18 nTPM
- duodenum: 14 nTPM
- kidney: 12 nTPM
- colon: 11 nTPM
- prostate: 8.6 nTPM
Single-cell type
- enterocytes: 142 nCPM
- syncytiotrophoblasts: 80 nCPM
- cytotrophoblasts: 49 nCPM
- sertoli cells: 43 nCPM
- endometrial luminal cells: 41 nCPM
- urothelial cells: 35 nCPM
Immune cell
- basophil: 2 nTPM
- neutrophil: 0.7 nTPM
- NK-cell: 0.5 nTPM
- naive B-cell: 0.4 nTPM
- eosinophil: 0.3 nTPM
- classical monocyte: 0.2 nTPM
Brain region
- thalamus: 17 nTPM
- pons: 16 nTPM
- medulla oblongata: 16 nTPM
- hypothalamus: 14 nTPM
- amygdala: 14 nTPM
- midbrain: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC52A3.
Disease | AllUniProt
Conditions SLC52A3 is implicated in, by any mechanism.
- Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) MIM:211530
- Fazio-Londe disease (FALOND) MIM:211500
Disease | GeneticClinVar
32 pathogenic / likely-pathogenic of 496 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Brown-Vialetto-van Laere syndrome 1
- Inborn genetic diseases
- Progressive bulbar palsy of childhood
- Auditory neuropathy
- Likely inborn error of metabolism
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.8
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 1.25
- DepMap mean gene effect
- 0.13
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to heat
- flavin adenine dinucleotide biosynthetic process
- riboflavin metabolic process
- riboflavin transport
- sensory perception of sound
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC52A3 as an antibody target. Whether an autoantibody or antibody against SLC52A3 could matter depends on whether native SLC52A3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC52A3 is annotated at the cell surface, where native SLC52A3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC52A3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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