InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SLC19A3

Summary

InnateDB Gene

IDBG-82664.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC19A3

Gene Name

solute carrier family 19, member 3

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000135917

Encoded Proteins

IDBP-82666

solute carrier family 19, member 3

IDBP-292953

solute carrier family 19, member 3

IDBP-292948

solute carrier family 19, member 3

IDBP-389182

solute carrier family 19, member 3

IDBP-389183

solute carrier family 19, member 3

IDBP-389184

solute carrier family 19, member 3

IDBP-389185

solute carrier family 19, member 3

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:227685210-227718012

Strand

Reverse strand

Band

q36.3

Transcripts

ENST00000258403	ENSP00000258403
ENST00000409287	ENSP00000386298
ENST00000409456	ENSP00000387193
ENST00000425817	ENSP00000397393
ENST00000456524	ENSP00000399001
ENST00000431622	ENSP00000400627
ENST00000419059	ENSP00000398349
ENST00000477697

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	4 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0015403	thiamine uptake transmembrane transporter activity

Biological Process

GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006810	transport
GO:0042723	thiamine-containing compound metabolic process
GO:0044281	small molecule metabolic process
GO:0055085	transmembrane transport
GO:0071934	thiamine transmembrane transport