Version 5.4
Homo sapiens Protein: SLC25A19
Summary
InnateDB Protein IDBP-68248.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC25A19
Protein Name solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000319574
InnateDB Gene IDBG-68246 (SLC25A19)
Protein Structure
UniProt Annotation
Function Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. {ECO:0000269PubMed:18280798}.
Subcellular Localization Mitochondrion inner membrane; Multi-pass membrane protein.
Disease Associations Microcephaly, Amish type (MCPHA) [MIM:607196]: A disorder characterized by severe congenital microcephaly and severe 2- ketoglutaric aciduria leading to death within the first year. {ECO:0000269PubMed:12185364}. Note=The disease is caused by mutations affecting the gene represented in this entry.Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710]: A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. {ECO:0000269PubMed:19798730}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain. {ECO:0000269PubMed:11226231}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [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:0030233 deoxynucleotide transmembrane transporter activity
Biological Process
GO:0006810 transport
GO:0030302 deoxynucleotide transport
GO:0055085 transmembrane transport
Cellular Component
GO:0005634 nucleus
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR002067 Mitochondrial carrier protein
IPR018108 Mitochondrial substrate/solute carrier
IPR023395 Mitochondrial carrier domain
PFAM PF00153
PRINTS PR00926
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9HC21
PhosphoSite PhosphoSite-Q9HC21
TrEMBL Q5JPC1
UniProt Splice Variant
Entrez Gene 60386
UniGene
RefSeq XP_005257616
HUGO HGNC:14409
OMIM 606521
CCDS CCDS11720
HPRD 08405
IMGT
EMBL AC022211 AF182404 AJ251857 AJ301616 AK097882 AL833387 AY346372 BC001075 BC005120 CH471099
GenPept AAG16903 AAH01075 AAH05120 AAQ54327 BAG53545 CAC27560 CAC37793 CAI46136 EAW89267 EAW89268 EAW89269

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca