DLAT

GENERAL INFORMATION

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Gene name

DLAT

Gene description

Dihydrolipoamide S-acetyltransferase

Protein class

Citric acid cycle related proteins
Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General, granular cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA040786 , CAB003782
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Oral mucosa

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

DLAT (HGNC Symbol)

Synonyms

DLTA, PDC-E2

Description

Dihydrolipoamide S-acetyltransferase (HGNC Symbol)

Entrez gene summary

This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]

Chromosome

11

Cytoband

q23.1

Chromosome location (bp)

112024814 - 112064390

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000150768 (version 78.38)

Entrez gene

1737

UniProt

P10515 (UniProt - Evidence at protein level)

neXtProt

NX_P10515

Antibodypedia

DLAT antibodies


PROTEIN BROWSER

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ENST00000280346
 
ENST00000393051
 
ENST00000531306
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DLAT-001 ENSP00000280346
ENST00000280346
P10515
Show all »
Show » Show » 647 69 No 0
DLAT-002 ENSP00000376771
ENST00000393051
E9PEJ4
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Show » Show » 542 57.6 No 0
DLAT-005 ENSP00000433432
ENST00000531306
H0YDD4
Show all »
Show » Show » 479 51.2 No 0