SLC25A19

Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Identifiers
Symbols	SLC25A19 ; DNC; MCPHA; MUP1; THMD3; THMD4; TPC
External IDs	OMIM: 606521 MGI: 1914533 HomoloGene: 5982 IUPHAR: 1073 GeneCards: SLC25A19 Gene
Gene ontology Molecular function • deoxynucleotide transmembrane transporter activity Cellular component • nucleus • mitochondrial inner membrane • integral component of membrane Biological process • positive regulation of defense response to virus by host • deoxynucleotide transport • transmembrane transport Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	60386	67283
Ensembl	ENSG00000125454	ENSMUSG00000020744
UniProt	Q9HC21	Q9DAM5
RefSeq (mRNA)	NM_001126121	NM_001252384
RefSeq (protein)	NP_001119593	NP_001239313
Location (UCSC)	Chr 17: 75.27 – 75.29 Mb	Chr 11: 115.61 – 115.63 Mb
PubMed search

Mitochondrial thiamine pyrophosphate carrier is a protein that in humans is encoded by the SLC25A19 gene.^[1][2][3]

See also

• Solute carrier family

References

1. Iacobazzi V, Ventura M, Fiermonte G, Prezioso G, Rocchi M, Palmieri F (Jul 2001). "Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC)". Cytogenet Cell Genet 93 (1–2): 40–2. doi:10.1159/000056945. PMID 11474176.
2. Dolce V, Fiermonte G, Runswick MJ, Palmieri F, Walker JE (Mar 2001). "The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals". Proc Natl Acad Sci U S A 98 (5): 2284–8. doi:10.1073/pnas.031430998. PMC 30130. PMID 11226231.
3. "Entrez Gene: SLC25A19 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19".

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Rosenberg MJ, Agarwala R, Bouffard G, et al. (2002). "Mutant deoxynucleotide carrier is associated with congenital microcephaly". Nat. Genet. 32 (1): 175–9. doi:10.1038/ng948. PMID 12185364.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Lam W, Chen C, Ruan S, et al. (2005). "Expression of deoxynucleotide carrier is not associated with the mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside analogs and mitochondrial dNTP uptake". Mol. Pharmacol. 67 (2): 408–16. doi:10.1124/mol.104.007120. PMID 15539640.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
• Lindhurst MJ, Fiermonte G, Song S, et al. (2006). "Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia". Proc. Natl. Acad. Sci. U.S.A. 103 (43): 15927–32. doi:10.1073/pnas.0607661103. PMC 1595310. PMID 17035501.

External links

• GeneReviews/NCBI/NIH/UW entry on Amish Lethal Microcephaly
• OMIM entries on Amish Lethal Microcephaly