SLC25A19 (solute carrier family 25 member 19)

2014-03-01  

Identity

HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
DNC,MCPHA,MUP1,THMD3,THMD4,TPC
FUSION GENES

Other Information

Locus ID:

NCBI: 60386
MIM: 606521
HGNC: 14409
Ensembl: ENSG00000125454

Variants:

dbSNP: 60386
ClinVar: 60386
TCGA: ENSG00000125454
COSMIC: SLC25A19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125454ENST00000320362Q9HC21
ENSG00000125454ENST00000320362Q5JPC1
ENSG00000125454ENST00000375261Q9HC21
ENSG00000125454ENST00000402418Q9HC21
ENSG00000125454ENST00000402418Q5JPC1
ENSG00000125454ENST00000416858Q9HC21
ENSG00000125454ENST00000416858Q5JPC1
ENSG00000125454ENST00000442286Q9HC21
ENSG00000125454ENST00000442286Q5JPC1
ENSG00000125454ENST00000579207J3QLV3
ENSG00000125454ENST00000580151J3KS44
ENSG00000125454ENST00000580273J3KTL0
ENSG00000125454ENST00000580994Q9HC21
ENSG00000125454ENST00000580994Q5JPC1
ENSG00000125454ENST00000581988J3QL84
ENSG00000125454ENST00000582778J3KSI7
ENSG00000125454ENST00000582822J3KSB1
ENSG00000125454ENST00000583332J3KRY6
ENSG00000125454ENST00000584438J3QS02

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B1 (thiamin) metabolismREACTOMER-HSA-196819

References

Pubmed IDYearTitleCitations
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
170355012006Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.43
121853642002Mutant deoxynucleotide carrier is associated with congenital microcephaly.26
197987302009SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
182807982008The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier.15
236427342013Up-regulation of vitamin B1 homeostasis genes in breast cancer.11
263165912015Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells.10
238725342013Characterization of the human mitochondrial thiamine pyrophosphate transporter SLC25A19 minimal promoter: a role for NF-Y in regulating basal transcription.5
287292472017Adaptive regulation of pancreatic acinar mitochondrial thiamin pyrophosphate uptake process: possible involvement of epigenetic mechanism(s).4

Citation

Dessen P

SLC25A19 (solute carrier family 25 member 19)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53717/slc25a19