Slc19a3 solute carrier family 19, member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc19a3provided by MGI
Official Full Name: solute carrier family 19, member 3provided by MGI
Primary source: MGI:MGI:1931307
See related: Ensembl:ENSMUSG00000038496 AllianceGenome:MGI:1931307
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ThTr2; A230084E24Rik
Summary: Enables thiamine transmembrane transporter activity. Involved in thiamine diphosphate biosynthetic process and thiamine transmembrane transport. Is active in plasma membrane. Used to study biotin-responsive basal ganglia disease. Human ortholog(s) of this gene implicated in biotin-responsive basal ganglia disease. Orthologous to human SLC19A3 (solute carrier family 19 member 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in kidney adult (RPKM 6.0), duodenum adult (RPKM 1.7) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C5; 1 42.65 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (82990242..83016541, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (83012523..83038820, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of the amino acid residues involved in the species-dependent differences in the pyridoxine transport function of SLC19A3.
Title: Identification of the amino acid residues involved in the species-dependent differences in the pyridoxine transport function of SLC19A3.
Animal species differences in the pyridoxine transport function of SLC19A3: Absence of Slc19a3-mediated pyridoxine uptake in the rat small intestine.
Title: Animal species differences in the pyridoxine transport function of SLC19A3: Absence of Slc19a3-mediated pyridoxine uptake in the rat small intestine.
showed that acute neurodegeneration caused by thiamine deficiency is preventable in most parts, and prompt high-dose thiamine administration is critical for the treatment of THMD2. However, reduction of thiamine should be performed carefully to prevent recurrence after recovery of the disease
Title: High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.
both mTHTR-1 and mTHTR-2 are involved in carrier-mediated thiamin uptake by pancreatic acinar cells.
Title: Relative contribution of THTR-1 and THTR-2 in thiamin uptake by pancreatic acinar cells: studies utilizing Slc19a2 and Slc19a3 knockout mouse models.
THTR-2 is required for normal uptake of thiamin in the intestine and can fulfill normal levels of uptake in conditions associated with THTR-1 dysfunction.
Title: Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice.
Pancreatic beta cells and islets take up thiamine by a regulated THTR1/2-mediated process.
Title: Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations.
Intestinal and renal thiamin uptake are developmentally regulated during early stages of life, mediated through mTHTR-1 and mTHTR-2, and suggest the possible involvement of transcriptional regulatory mechanism(s) in this regulation.
Title: Developmental maturation of intestinal and renal thiamin uptake: studies in wild-type and transgenic mice carrying human THTR-1 and 2 promoters.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

General gene information

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Markers

Slc19a3 (e-PCR), detects polymorphism
- UniSTS:224154

NoName (e-PCR)
- UniSTS:485300

Slc19a3 (e-PCR), detects polymorphism
- UniSTS:547012

AI788884 (e-PCR)
- UniSTS:178424

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
NOT enables folic acid transmembrane transporter activity	ISO Inferred from Sequence Orthology more info	PubMed
enables thiamine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables thiamine transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables thiamine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
NOT acts_upstream_of_or_within folic acid transport	ISO Inferred from Sequence Orthology more info	PubMed
involved_in pyridoxine transport	IEA Inferred from Electronic Annotation more info
involved_in pyridoxine transport	ISO Inferred from Sequence Orthology more info
involved_in thiamine diphosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in thiamine diphosphate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thiamine transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thiamine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in thiamine transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thiamine transport	ISO Inferred from Sequence Orthology more info	PubMed
involved_in thiamine transport	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: thiamine transporter 2

Names: solute carrier family 19 (sodium/hydrogen exchanger), member 3; thTr-2

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001432569.1 → NP_001419498.1 thiamine transporter 2 precursor

Status: VALIDATED

Source sequence(s)

AC161180

UniProtKB/Swiss-Prot

Q32MF5, Q99PL8
NM_001432571.1 → NP_001419500.1 thiamine transporter 2 precursor

Status: VALIDATED

Source sequence(s)

AC161180

UniProtKB/Swiss-Prot

Q32MF5, Q99PL8
NM_001432573.1 → NP_001419502.1 thiamine transporter 2 precursor

Status: VALIDATED

Source sequence(s)

AC161180

UniProtKB/Swiss-Prot

Q32MF5, Q99PL8
NM_030556.3 → NP_085033.2 thiamine transporter 2 precursor

See identical proteins and their annotated locations for NP_085033.2

Status: VALIDATED

Source sequence(s)

AC161180

Consensus CDS

CCDS15101.1

UniProtKB/Swiss-Prot

Q32MF5, Q99PL8

Related

ENSMUSP00000041683.9, ENSMUST00000045560.15

Conserved Domains (1) summary

pfam01770
Location:11 → 435

Folate_carrier; Reduced folate carrier

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

82990242..83016541 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011238716.4 → XP_011237018.1 thiamine transporter 2 isoform X1

Conserved Domains (1) summary

pfam01770
Location:11 → 435

Folate_carrier; Reduced folate carrier
XM_036154439.1 → XP_036010332.1 thiamine transporter 2 isoform X1

Conserved Domains (1) summary

pfam01770
Location:11 → 435

Folate_carrier; Reduced folate carrier
XM_036154448.1 → XP_036010341.1 thiamine transporter 2 isoform X1

UniProtKB/Swiss-Prot

Q32MF5, Q99PL8

Conserved Domains (1) summary

pfam01770
Location:11 → 435

Folate_carrier; Reduced folate carrier
XM_006496579.5 → XP_006496642.1 thiamine transporter 2 isoform X1

Related

ENSMUSP00000126646.2, ENSMUST00000164473.2

Conserved Domains (1) summary

pfam01770
Location:11 → 435

Folate_carrier; Reduced folate carrier
XM_036154441.1 → XP_036010334.1 thiamine transporter 2 isoform X1

UniProtKB/Swiss-Prot

Q32MF5, Q99PL8

Conserved Domains (1) summary

pfam01770
Location:11 → 435

Folate_carrier; Reduced folate carrier
XM_011238715.4 → XP_011237017.1 thiamine transporter 2 isoform X1

See identical proteins and their annotated locations for XP_011237017.1

UniProtKB/Swiss-Prot

Q32MF5, Q99PL8

Conserved Domains (1) summary

pfam01770
Location:11 → 435

Folate_carrier; Reduced folate carrier