Property Summary

NCBI Gene PubMed Count 22
Grant Count 64
R01 Count 45
Funding $7,351,367.1
PubMed Score 181.47
PubTator Score 56.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Synonym

Accession Q9HC21 E9PF74 Q6V9R7
Symbols DNC
TPC
MUP1
MCPHA
THMD3
THMD4

Gene

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.
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