ID:TPC_HUMAN DESCRIPTION: RecName: Full=Mitochondrial thiamine pyrophosphate carrier; AltName: Full=Mitochondrial uncoupling protein 1; AltName: Full=Solute carrier family 25 member 19; FUNCTION: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain. DISEASE: Defects in SLC25A19 are the cause of microcephaly Amish type (MCPHA) [MIM:607196]; also known as Amish lethal microcephaly. MCPHA is an autosomal recessive metabolic disorder characterized by severe congenital microcephaly, severe 2- ketoglutaric aciduria and death within the first year. DISEASE: Defects in SLC25A19 are the cause of striatal necrosis bilateral and progressive polyneuropathy (SNBPP) [MIM:613710]. A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. MISCELLANEOUS: The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity). SIMILARITY: Belongs to the mitochondrial carrier family. SIMILARITY: Contains 3 Solcar repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A19";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9HC21
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006839 mitochondrial transport GO:0030302 deoxynucleotide transport GO:0030974 thiamine pyrophosphate transport GO:0042723 thiamine-containing compound metabolic process GO:0055085 transmembrane transport GO:0071934 thiamine transmembrane transport
AK225881 - Homo sapiens mRNA for Mitochondrial deoxynucleotide carrier variant, clone: FCC123E02. BC001075 - Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19, mRNA (cDNA clone MGC:2707 IMAGE:2821142), complete cds. BC005120 - Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19, mRNA (cDNA clone MGC:4334 IMAGE:2821142), complete cds. AL833387 - Homo sapiens mRNA; cDNA DKFZp667O1614 (from clone DKFZp667O1614). AK097882 - Homo sapiens cDNA FLJ40563 fis, clone THYMU2004169, highly similar to Mitochondrial deoxynucleotide carrier. AK075239 - Homo sapiens cDNA FLJ90758 fis, clone SKNMC1000082, highly similar to Mitochondrial deoxynucleotide carrier. AJ251857 - Homo sapiens mRNA for thiamine pyrophosphate carrier (TPC gene). JD150614 - Sequence 131638 from Patent EP1572962. JD449988 - Sequence 431012 from Patent EP1572962. JD131076 - Sequence 112100 from Patent EP1572962. JD051678 - Sequence 32702 from Patent EP1572962. JD446668 - Sequence 427692 from Patent EP1572962. JD420890 - Sequence 401914 from Patent EP1572962. JD073851 - Sequence 54875 from Patent EP1572962. JD437292 - Sequence 418316 from Patent EP1572962. AF182404 - Homo sapiens mitochondrial uncoupling protein 1 mRNA, complete cds. AY346372 - Homo sapiens solute carrier family 25 member 19 (SLC25A19) mRNA, complete cds; alternatively spliced. DQ892760 - Synthetic construct clone IMAGE:100005390; FLH189434.01X; RZPDo839F0274D solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 (SLC25A19) gene, encodes complete protein. DQ896005 - Synthetic construct Homo sapiens clone IMAGE:100010465; FLH189430.01L; RZPDo839F0264D solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 (SLC25A19) gene, encodes complete protein. JD233225 - Sequence 214249 from Patent EP1572962. JD053272 - Sequence 34296 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9HC21 (Reactome details) participates in the following event(s):
R-HSA-8875838 SLC25A19 transports ThDP from cytosol to mitochondrial matrix R-HSA-196819 Vitamin B1 (thiamin) metabolism R-HSA-196849 Metabolism of water-soluble vitamins and cofactors R-HSA-196854 Metabolism of vitamins and cofactors R-HSA-1430728 Metabolism
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
