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SLC52A3 solute carrier family 52 member 3 [ Homo sapiens (human) ]

Gene ID: 113278, updated on 20-Dec-2019

Summary

Official Symbol
SLC52A3provided by HGNC
Official Full Name
solute carrier family 52 member 3provided by HGNC
Primary source
HGNC:HGNC:16187
See related
Ensembl:ENSG00000101276 MIM:613350
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RFT2; BVVLS; RFVT3; hRFT2; BVVLS1; C20orf54; bA371L19.1
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]
Expression
Biased expression in testis (RPKM 24.2), small intestine (RPKM 7.2) and 7 other tissues See more
Orthologs

Genomic context

See SLC52A3 in Genome Data Viewer
Location:
20p13
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (760080..775985, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (740724..756628, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985423 Neighboring gene uncharacterized LOC105372491 Neighboring gene scratch family transcriptional repressor 2 Neighboring gene CRISPRi-validated cis-regulatory element chr20.80 Neighboring gene family with sequence similarity 110 member A Neighboring gene ribosomal protein S10 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10698

Gene Ontology Provided by GOA

Function Evidence Code Pubs
riboflavin transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to heat IEA
Inferred from Electronic Annotation
more info
 
riboflavin metabolic process TAS
Traceable Author Statement
more info
 
riboflavin transport IDA
Inferred from Direct Assay
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
solute carrier family 52, riboflavin transporter, member 3
Names
SLC52A3a
SLC52A3b
riboflavin transporter 2
solute carrier family 52 (riboflavin transporter), member 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027687.2 RefSeqGene

    Range
    12486..20906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001370085.1NP_001357014.1  solute carrier family 52, riboflavin transporter, member 3

    Status: REVIEWED

    Source sequence(s)
    AL118502
    Related
    ENSP00000217254.7, ENST00000217254.11
    Conserved Domains (1) summary
    pfam06237
    Location:298395
    DUF1011; Protein of unknown function (DUF1011)
  2. NM_001370086.1NP_001357015.1  solute carrier family 52, riboflavin transporter, member 3

    Status: REVIEWED

    Source sequence(s)
    AL118502
    Related
    ENSP00000494009.1, ENST00000488495.2
    Conserved Domains (1) summary
    pfam06237
    Location:298395
    DUF1011; Protein of unknown function (DUF1011)
  3. NM_033409.4NP_212134.3  solute carrier family 52, riboflavin transporter, member 3

    See identical proteins and their annotated locations for NP_212134.3

    Status: REVIEWED

    Source sequence(s)
    AI244952, AK074650, BC009750, DA302552, DA358731
    Consensus CDS
    CCDS13007.1
    UniProtKB/Swiss-Prot
    Q9NQ40
    UniProtKB/TrEMBL
    K0A6P4
    Related
    ENSP00000494193.1, ENST00000645534.1
    Conserved Domains (1) summary
    pfam06237
    Location:298395
    DUF1011; Protein of unknown function (DUF1011)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    760080..775985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451821.1XP_024307589.1  solute carrier family 52, riboflavin transporter, member 3 isoform X1

    Conserved Domains (1) summary
    pfam06237
    Location:298395
    DUF1011; Protein of unknown function (DUF1011)
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