SLC52A3

GENERAL INFORMATION

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Gene name

SLC52A3

Gene description

Solute carrier family 52 (riboflavin transporter), member 3

Protein class

Disease related genes
Plasma proteins
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (testis)
GTEx:Tissue enriched (testis)

Protein evidence

Evidence at protein level

Protein localization

Most of the normal cells displayed weak to moderate cytoplasmic positivity. Cells in seminiferus ducts showed strong cytoplasmic staining while epididymis exhibited strong cytoplasmic and membranous immunoreactivity. The liver, germinal center cells of lymphoid tissues, skin, soft tissues except chondrocytes, smooth and skeletal muscle cells were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA049391
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Small intestine

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (testis)

Organ

Expression



GENE INFORMATION

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Gene name

SLC52A3 (HGNC Symbol)

Synonyms

bA371L19.1, C20orf54, hRFT2, RFVT3

Description

Solute carrier family 52 (riboflavin transporter), member 3 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

20

Cytoband

p13

Chromosome location (bp)

760080 - 768487

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101276 (version 78.38)

Entrez gene

113278

UniProt

Q9NQ40 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NQ40

Antibodypedia

SLC52A3 antibodies


PROTEIN BROWSER

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ENST00000217254
 
ENST00000381944
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC52A3-001 ENSP00000217254
ENST00000217254
Q9NQ40
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Show » Show » 469 50.8 Yes >9
SLC52A3-004 ENSP00000371370
ENST00000381944
Q9NQ40
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Show » Show » 415 45 Yes 8