DLAT (dihydrolipoamide S-acetyltransferase)

2007-04-01  

Identity

HGNC
LOCATION
11q23.1
LOCUSID
ALIAS
DLTA,E2,PBC,PDC-E2,PDCE2
FUSION GENES

Other Information

Locus ID:

NCBI: 1737
MIM: 608770
HGNC: 2896
Ensembl: ENSG00000150768

Variants:

dbSNP: 1737
ClinVar: 1737
TCGA: ENSG00000150768
COSMIC: DLAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150768ENST00000280346P10515
ENSG00000150768ENST00000280346Q86YI5
ENSG00000150768ENST00000393051E9PEJ4
ENSG00000150768ENST00000531306H0YDD4
ENSG00000150768ENST00000533297E9PKC7

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Citrate cycle (TCA cycle)KEGGko00020
Pyruvate metabolismKEGGko00620
Glycolysis / GluconeogenesisKEGGhsa00010
Citrate cycle (TCA cycle)KEGGhsa00020
Pyruvate metabolismKEGGhsa00620
Metabolic pathwaysKEGGhsa01100
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGhsa_M00307
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGM00307
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Signal TransductionREACTOMER-HSA-162582
Signaling by Retinoic AcidREACTOMER-HSA-5362517
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Pyruvate metabolismREACTOMER-HSA-70268
Regulation of pyruvate dehydrogenase (PDH) complexREACTOMER-HSA-204174
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
191850002009Apotopes and the biliary specificity of primary biliary cirrhosis.70
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
146386922004Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components.35
250428032014Lysine acetylation activates 6-phosphogluconate dehydrogenase to promote tumor growth.29
250430652014Ongoing activation of autoantigen-specific B cells in primary biliary cirrhosis.27
204524822010Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.26
151207602004Disease-specific cross-reactivity between mimicking peptides of heat shock protein of Mycobacterium gordonae and dominant epitope of E2 subunit of pyruvate dehydrogenase is common in Spanish but not British patients with primary biliary cirrhosis.23
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
203619792010Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly.16

Citation

Dessen P

DLAT (dihydrolipoamide S-acetyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47127/dlat