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

Gene ID: 113278, updated on 29-Jul-2014
Official Symbol
SLC52A3provided by HGNC
Official Full Name
solute carrier family 52 (riboflavin transporter), member 3provided by HGNC
Primary source
HGNC:16187
See related
Ensembl:ENSG00000101276; HPRD:09843; MIM:613350; Vega:OTTHUMG00000031647
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]
See SLC52A3 in Epigenomics, MapViewer
Location:
20p13
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (760080..776015, 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 sulfiredoxin 1 Neighboring gene scratch family zinc finger 2 Neighboring gene uncharacterized LOC102724500 Neighboring gene family with sequence similarity 110, member A Neighboring gene ribosomal protein S10 pseudogene 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Clone Names

  • MGC10698

Gene Ontology Provided by GOA

Function Evidence Code Pubs
riboflavin transporter activity IDA
Inferred from Direct Assay
more info
 
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
 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
solute carrier family 52, riboflavin transporter, member 3
Names
solute carrier family 52, riboflavin transporter, member 3
riboflavin transporter 2
solute carrier family 52 member 3

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_027687.1 

    Range
    5001..13505
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033409.3NP_212134.3  solute carrier family 52, riboflavin transporter, member 3

    See proteins identical to NP_212134.3

    Status: REVIEWED

    Source sequence(s)
    AI244952, AK074650, BC009750, DA302552, DA358731
    Consensus CDS
    CCDS13007.1
    UniProtKB/TrEMBL
    K0A6P4
    UniProtKB/Swiss-Prot
    Q9NQ40
    Related
    ENSP00000217254, OTTHUMP00000029939, ENST00000217254, OTTHUMT00000077482
    Conserved Domains (1) summary
    pfam06237
    Location:294395
    Blast Score: 390
    DUF1011; Protein of unknown function (DUF1011)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    760080..776015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260655.2XP_005260712.1  

    See proteins identical to XP_005260712.1

    UniProtKB/TrEMBL
    K0A6P4
    UniProtKB/Swiss-Prot
    Q9NQ40
    Conserved Domains (1) summary
    pfam06237
    Location:294395
    Blast Score: 390
    DUF1011; Protein of unknown function (DUF1011)
  2. XM_006723538.1XP_006723601.1  

    See proteins identical to XP_006723601.1

    UniProtKB/TrEMBL
    K0A6P4
    UniProtKB/Swiss-Prot
    Q9NQ40
    Conserved Domains (1) summary
    pfam06237
    Location:294395
    Blast Score: 390
    DUF1011; Protein of unknown function (DUF1011)

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    692137..700684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    740737..749241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)