InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC19A2

Summary

InnateDB Protein

IDBP-104663.6

Last Modified

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

Gene Symbol

SLC19A2

Protein Name

solute carrier family 19 (thiamine transporter), member 2

Synonyms

TC1; THMD1; THT1; THTR1; TRMA;

Species

Homo sapiens

Ensembl Protein

ENSP00000236137

InnateDB Gene

IDBG-104661 (SLC19A2)

Protein Structure

UniProt Annotation

Function

High-affinity transporter for the intake of thiamine.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]: An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke. {ECO:0000269PubMed:10391221, ECO:0000269PubMed:10874303}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008517	folic acid transporter activity
GO:0015234	thiamine transmembrane transporter activity
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:0015884	folic acid transport
GO:0015888	thiamine 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

O60779