Mitochondrial thiamine pyrophosphate carrier

Mitochondrial thiamine pyrophosphate carrier is a protein that in humans is encoded by the SLC25A19 gene.

SLC25A19
Identifiers
Aliases	SLC25A19, DNC, MCPHA, MUP1, THMD3, THMD4, TPC, solute carrier family 25 member 19
External IDs	OMIM: 606521 MGI: 1914533 HomoloGene: 5982 GeneCards: SLC25A19
Gene location (Human) Chr. Chromosome 17 (human) Band 17q25.1 Start 75,272,981 bp End 75,289,510 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 E2 Start 115,505,004 bp End 115,519,121 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium appendix lymph node bone marrow cells pancreatic ductal cell gastrocnemius muscle monocyte oocyte tibialis anterior muscle spleen Top expressed in brown adipose tissue saccule temporal muscle proximal tubule superior frontal gyrus sternocleidomastoid muscle digastric muscle ectoderm otic placode triceps brachii muscle More reference expression data BioGPS n/a
Gene ontology Molecular function deoxynucleotide transmembrane transporter activity thiamine pyrophosphate transmembrane transporter activity thiamine transmembrane transporter activity transmembrane transporter activity Cellular component integral component of membrane nucleus mitochondrion membrane mitochondrial inner membrane integral component of mitochondrial inner membrane Biological process deoxynucleotide transport transmembrane transport thiamine-containing compound metabolic process mitochondrial transport thiamine pyrophosphate transmembrane transport thiamine transmembrane transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 60386 67283 Ensembl ENSG00000125454 ENSMUSG00000020744 UniProt Q9HC21 Q9DAM5 RefSeq (mRNA) NM_001126121 NM_001126122 NM_021734 NM_001252384 NM_001252394 NM_001252395 NM_001252396 NM_026071 RefSeq (protein) NP_001119593 NP_001119594 NP_068380 NP_001239313 NP_001239323 NP_001239324 NP_001239325 NP_080347 Location (UCSC) Chr 17: 75.27 – 75.29 Mb Chr 11: 115.51 – 115.52 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

See also

• Solute carrier family

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. S2CID 23768596.
• 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. Bibcode:2002PNAS...9916899M. 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.
• Carrisi C, Antonucci D, et al. (2013). "Transport of platinum bonded nucleotides into proteoliposomes, mediated by Drosophila melanogaster thiamine pyrophosphate carrier protein (DmTpc1)". Journal of Inorganic Biochemistry. 130: 28–31. doi:10.1016/j.jinorgbio.2013.09.012. PMID 24148759.
• 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. S2CID 25269301.
• 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. Bibcode:2006PNAS..10315927L. doi:10.1073/pnas.0607661103. PMC 1595310. PMID 17035501.
• Iacopetta D, Carrisi C, et al. (2010). "The biochemical properties of the mitochondrial thiamine pyrophosphate carrier from Drosophila melanogaster". FEBS J. 277 (5): 1172–81. doi:10.1111/j.1742-4658.2009.07550.x. PMID 20121944. S2CID 24140143.

External links

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