InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC19A3

Summary

InnateDB Protein

IDBP-82666.6

Last Modified

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

Gene Symbol

SLC19A3

Protein Name

solute carrier family 19, member 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000258403

InnateDB Gene

IDBG-82664 (SLC19A3)

Protein Structure

UniProt Annotation

Function

Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity. {ECO:0000269PubMed:11731220}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483]: An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. {ECO:0000269PubMed:15871139}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed but most abundant in placenta, kidney and liver. {ECO:0000269PubMed:11136550, ECO:0000269PubMed:15871139}.

Comments

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

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR002666 Reduced folate carrier
IPR011701 Major facilitator superfamily
IPR016196 Major facilitator superfamily domain, general substrate transporter

PFAM

PF01770
PF07690

PRINTS

PIRSF

PIRSF028739

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9BZV2