InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LIAS

Summary

InnateDB Protein

IDBP-14372.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LIAS

Protein Name

lipoic acid synthetase

Synonyms

LAS; LIP1; LS; PDHLD;

Species

Homo sapiens

Ensembl Protein

ENSP00000261434

InnateDB Gene

IDBG-14368 (LIAS)

Protein Structure

UniProt Annotation

Function

Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives. {ECO:0000255HAMAP-Rule:MF_03123}.

Subcellular Localization

Mitochondrion {ECO:0000255HAMAP- Rule:MF_03123}.

Disease Associations

Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) [MIM:614462]: An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. {ECO:0000269PubMed:22152680}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	0
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0016992	lipoate synthase activity
GO:0046872	metal ion binding
GO:0051536	iron-sulfur cluster binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0001843	neural tube closure
GO:0006954	inflammatory response
GO:0006979	response to oxidative stress
GO:0009107	lipoate biosynthetic process
GO:0009249	protein lipoylation
GO:0032496	response to lipopolysaccharide