Property Summary

NCBI Gene PubMed Count 22
PubMed Score 181.47
PubTator Score 56.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
group 4 medulloblastoma -1.200 4.2e-05
adrenocortical carcinoma -1.409 2.5e-06
tuberculosis and treatment for 3 months -1.200 1.2e-06
inflammatory breast cancer 1.200 1.2e-03

Protein-protein Interaction (2)

Gene RIF (9)

PMID Text
26316591 Chronic alcohol exposure negatively impacts pancreatic mitochondrial thiamin pyrophosphate transport, and this effect is exerted, at least in part, at the level of Slc25a19 transcription and appears to involve an epigenetic mechanism.
23872534 Characterization of the SLC25A19 promoter and demonstration of an essential role for NF-Y in its basal activity.
23642734 These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines.
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19798730 a pathogenic missense mutation in the SLC25A19 gene was identifiedin 4 patients who suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy
18280798 We review the evidence that the function of the SLC25A19 gene product, previously identified as the mitochondrial deoxyribonucleotide carrier (DNC), is actually the transport of thiamine pyrophosphate.[review]
17035501 mitochondria of Slc25a19(-/-) and Amish lethal microcephaly cells have undetectable and markedly reduced thiamine pyrophosphate content, respectively
12185364 mutant protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes Amiah microcephaly (MCPHA)

AA Sequence

MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQIL      1 - 70
QEEGPTAFWKGHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVD     71 - 140
VLRTRFAAQGEPKVYNTLRHAVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAE    141 - 210
GKKNENLQNLLCGSGAGVISKTLTYPLDLFKKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALG    211 - 280
FFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR                                  281 - 320
//

Text Mined References (25)

PMID Year Title
26316591 2015 Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
23872534 2013 Characterization of the human mitochondrial thiamine pyrophosphate transporter SLC25A19 minimal promoter: a role for NF-Y in regulating basal transcription.
23642734 2013 Up-regulation of vitamin B1 homeostasis genes in breast cancer.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19798730 2009 SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
18280798 2008 The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier.
17035501 2006 Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15539640 2005 Expression of deoxynucleotide carrier is not associated with the mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside analogs and mitochondrial dNTP uptake.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12185364 2002 Mutant deoxynucleotide carrier is associated with congenital microcephaly.
11474176 2001 Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC).
11226231 2001 The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.