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Slc19a3
Gene Detail
 Symbol
Name
ID
Slc19a3
solute carrier family 19, member 3
MGI:1931307
Synonyms A230084E24Rik, ThTr2
Feature Type protein coding gene
Genetic Map
Chromosome 1
42.65 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:83012523-83038448 bp, - strand
From VEGA annotation of GRCm38

  25926 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:23530  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 2 chicken; 1 zebrafish

Protein SuperFamily: folate/thiamine transporter
Gene Tree: Slc19a3

Human
homologs
Human Homolog SLC19A3, solute carrier family 19 (thiamine transporter), member 3
NCBI Gene ID 80704
neXtProt AC  NX_Q9BZV2
Human Synonyms  BBGD, THMD2, THTR2
Human Chr (Location)  2q37; chr2:227685210-227718098 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SLC19A3
Alleles
and
phenotypes
All alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit premature death within a year of age, impaired thiamin uptake, lethargy, cachexia, injured liver parenchyma, hepatic necrosis, liver and kidney inflammmation, and nephrosclerosis.
 
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process drug transmembrane transport, thiamine transmembrane transport, ...
Component integral component of membrane, integral component of plasma membrane, ...
Function thiamine transmembrane transporter activity, thiamine uptake transmembrane transporter activity
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (1)    Tissues (1)    Images (1)
Theiler Stages: 23
Assay TypeResults
RNA in situ 1
cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(9) cDNA(7) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000022622 (Evidence)
Ensembl Gene ModelENSMUSG00000038496 (Evidence)
Entrez Gene80721 (Evidence)
UniGene261542
DFCITC1594743, TC1613767, TC1623692
DoTSDT.110921102, DT.40146868, DT.97408352
NIA Mouse Gene IndexU021538
Consensus CDS ProjectCCDS15101.1
International Mouse Knockout Project StatusSlc19a3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022622 VEGA Gene Model | MGI Sequence Detail 25926 C57BL/6J ±  kb
transcript OTTMUST00000054192 VEGA | MGI Sequence Detail 2974 Not Applicable 
polypeptide OTTMUSP00000025828 VEGA | MGI Sequence Detail 488 Not Applicable 

For the selected sequences
All sequences(36) RefSeq(8) UniProt(1)
Polymorphisms SNPs within 2kb(202 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016196 Major facilitator superfamily domain, general substrate transporter
InterPro IPR002666 Reduced folate carrier
Protein Ontology PR:000014971 thiamine transporter 2
References (Earliest) J:67224 Eudy JD, et al., Identification and characterization of the human and mouse SLC19A3 gene: A novel member of the reduced folate family of micronutrient transporter genes. Mol Genet Metab. 2000 Dec;71(4):581-90
(Latest) J:183439 Subramanian VS, et al., Relative contribution of THTR-1 and THTR-2 in thiamin uptake by pancreatic acinar cells: studies utilizing Slc19a2 and Slc19a3 knockout mouse models. Am J Physiol Gastrointest Liver Physiol. 2012 Mar;302(5):G572-8
All references(33)
Other
accession IDs
MGI:2138321

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory