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FLASH GENE

Symbol

DLAT

contributors: mct - updated : 23-06-2021

HGNC name	dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
HGNC id	2896

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DLATD pyruvate dehydrogenase E2 deficiency
Location	11q23.1      Physical location : 111.895.537 - 111.935.000
Synonym name	M2 antigen complex 70 kDa subunit
	70 kDa mitochondrial autoantigen of primary biliary cirrhosis
	pyruvate dehydrogenase complex E2 subunit
Synonym symbol(s)	DLTA, PDC-E2, PDCE2, E2
EC.number	2.3.1.12

DNA

TYPE	functioning gene
STRUCTURE	38.99 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001372042 14 - 3882 NP_001358971 - 493 - 1988 3191998 NM_001372031 14 - 3896 NP_001358960 - 653 - 1988 3191998 NM_001931 14 - 3878 NP_001922 - 647 - 1988 3191998 NM_001372033 14 - 3857 NP_001358962 - 640 - 1988 3191998 NM_001372035 13 - 3770 NP_001358964 - 611 - 1988 3191998 NM_001372039 12 - 3563 NP_001358968 - 542 - 1988 3191998 NM_001372041 11 - 3455 NP_001358970 - 506 - 1988 3191998 NM_001372038 12 - 3599 NP_001358967 - 554 - 1988 3191998 NM_001372040 12 - 3497 NP_001358969 - 520 - 1988 3191998 NM_001372034 14 - 3845 NP_001358963 - 636 - 1988 3191998 NM_001372036 14 - 3793 NP_001358965 - 605 - 1988 3191998 NM_001372037 14 - 3751 NP_001358966 - 591 - 1988 3191998 NM_001372032 14 - 3872 NP_001358961 - 645 - 1988 3191998

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Lymphoid/Immune lymph node       highly Nervous brain         Reproductive male system testis     highly Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two lipoyl-binding domains
	E3 binding domain
	a catalytic domain

HOMOLOGY

intraspecies

homolog to 2 oxoacid dehydrogenases acetyl-transferase

Homologene

FAMILY

2-oxoacid dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	conversion of pyruvate to involved in the production of acetyl-CoA and carbone dioxide
	novel function of DLAT in the nucleus, suggesting nuclear-mitochondrial crosstalk through the interaction between STAT5 and DLAT
	radiation-induced blockade of autophagic flux stimulates redirection of intracellular molecules such as PDCE2 to the cell surface via a non-canonical secretory autophagy pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

energetic

signaling

a component	E2 component of pyruvate dehydrogenase complex
	multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3)

INTERACTION

DNA

RNA

small molecule	metal binding,
	biotin
	lipoate CoA
	binds 2 lipoyl cofactors covalently

protein	binding HLA-A*0201
	STAT5A-mediated repression of mtDNA expression also positively correlated with STAT5A binding to DLAT, both a gate-keeping metabolic enzyme and a component of mtDNA nucleoid in mitochondrial matrix

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DLATD

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in placentas from pregnancies with IUGR constitutional     --over   of DLAT was seen in the damaged small bile ducts (SBDs) in primary biliary cirrhosis (PBC) and the expression was significantly more frequent in PBC than in control livers

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS