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
375298352023miR-122-5p is involved in posttranscriptional regulation of the mitochondrial thiamin pyrophosphate transporter (SLC25A19) in pancreatic acinar cells.1
375298352023miR-122-5p is involved in posttranscriptional regulation of the mitochondrial thiamin pyrophosphate transporter (SLC25A19) in pancreatic acinar cells.1
351020312022Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.0
351020312022Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.0
345879722021Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.3
345879722021Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.3
287292472017Adaptive regulation of pancreatic acinar mitochondrial thiamin pyrophosphate uptake process: possible involvement of epigenetic mechanism(s).5
287292472017Adaptive regulation of pancreatic acinar mitochondrial thiamin pyrophosphate uptake process: possible involvement of epigenetic mechanism(s).5
271885252016Structure-function characterization of the human mitochondrial thiamin pyrophosphate transporter (hMTPPT; SLC25A19): Important roles for Ile(33), Ser(34), Asp(37), His(137) and Lys(291).4
271885252016Structure-function characterization of the human mitochondrial thiamin pyrophosphate transporter (hMTPPT; SLC25A19): Important roles for Ile(33), Ser(34), Asp(37), His(137) and Lys(291).4
263165912015Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells.14
263165912015Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells.14
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.0
236427342013Up-regulation of vitamin B1 homeostasis genes in breast cancer.15
238725342013Characterization of the human mitochondrial thiamine pyrophosphate transporter SLC25A19 minimal promoter: a role for NF-Y in regulating basal transcription.7

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-(solute-carrier-family-25-member-19)