InnateDB Protein
|
IDBP-389182.4
|
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
|
ENSP00000397393
|
InnateDB Gene
|
IDBG-82664 (SLC19A3)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0015403
|
thiamine uptake transmembrane transporter activity
|
|
Biological Process |
|
Cellular Component |
|
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 |
|
Modification |
|
SwissProt |
Q9BZV2
|
PhosphoSite |
PhosphoSite-Q9BZV2
|
TrEMBL |
C9J4J5
|
UniProt Splice Variant |
|
Entrez Gene |
80704
|
UniGene |
Hs.221597
|
RefSeq |
|
HUGO |
HGNC:16266
|
OMIM |
606152
|
CCDS |
CCDS2468
|
HPRD |
07311
|
IMGT |
|
EMBL |
AC064853
AF271633
AF283317
BC032014
|
GenPept |
AAG53879
AAH32014
AAK69539
AAX93157
|
|
|