Lias lipoic acid synthetase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Liasprovided by MGI
Official Full Name: lipoic acid synthetaseprovided by MGI
Primary source: MGI:MGI:1934604
See related: Ensembl:ENSMUSG00000029199 AllianceGenome:MGI:1934604
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LS; 7a5ex; lip-syn; 2900022L22Rik; 4933425M12Rik
Summary: Enables lipoate synthase activity. Involved in protein lipoylation. Acts upstream of or within several processes, including lipoate biosynthetic process; neural tube closure; and response to lipopolysaccharide. Is active in mitochondrion. Is expressed in alimentary system; liver; metanephros; salivary gland; and urinary system. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human LIAS (lipoic acid synthetase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 10.3), liver E14 (RPKM 8.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.1; 5 33.66 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (65548840..65567766)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (65391497..65410423)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lias overexpression alleviates pulmonary injury induced by fine particulate matter in mice.
Title: Lias overexpression alleviates pulmonary injury induced by fine particulate matter in mice.
Overexpression of the Lias gene attenuates hepatic steatosis in Leprdb/db mice.
Title: Overexpression of the Lias gene attenuates hepatic steatosis in Leprdb/db mice.
Decreased endogenous lipoic acid gene expression plays a role in development of diabetic atherosclerosis in ApoE deficient mice.
Title: Reduced alpha-lipoic acid synthase gene expression exacerbates atherosclerosis in diabetic apolipoprotein E-deficient mice.
deficiency increases oxidative stress and accelerates the development of diabetic nephropathy
Title: Reduced expression of lipoic acid synthase accelerates diabetic nephropathy.
Lias deficiency enhances atherosclerosis in male mice, at least in part due to reduced antioxidant capacity
Title: Genetic reduction of lipoic acid synthase expression modestly increases atherosclerosis in male, but not in female, apolipoprotein E-deficient mice.
Enhanced neutrophil sequestration in the livers of Lias+/- mice was associated with increased hepatocyte injury and increased gene expression of growth-related oncogene, E-selectin, and VCAM-1 in the liver and/or lung.
Title: Mice with heterozygous deficiency of lipoic acid synthase have an increased sensitivity to lipopolysaccharide-induced tissue injury.
Development of homozygous embryos lacking Lias is retarded.
Title: Endogenous production of lipoic acid is essential for mouse development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables lipoate synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipoate synthase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipoate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipoate biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein lipoylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lipoyl synthase, mitochondrial

Names: lipoate synthase; lipoic acid synthase

NP_001297541.1

EC 2.8.1.8

NP_077791.1

EC 2.8.1.8

XP_030110773.1

EC 2.8.1.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001310612.1 → NP_001297541.1 lipoyl synthase, mitochondrial isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AK045167, AK048744, AK077192

Consensus CDS

CCDS80288.1

UniProtKB/TrEMBL

A0A0M3HEP3

Related

ENSMUSP00000031101.5, ENSMUST00000031101.10

Conserved Domains (3) summary

cd01335
Location:49 → 245

Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...

PRK05481
Location:1 → 280

PRK05481; lipoyl synthase; Provisional

pfam16881
Location:1 → 26

LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family
NM_024471.5 → NP_077791.1 lipoyl synthase, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_077791.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK048744, AK077192

Consensus CDS

CCDS19307.1

UniProtKB/Swiss-Prot

Q543M1, Q99M04

UniProtKB/TrEMBL

Q8CCZ4

Related

ENSMUSP00000113228.3, ENSMUST00000122026.6

Conserved Domains (3) summary

cd01335
Location:133 → 329

Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...

PLN02428
Location:41 → 373

PLN02428; lipoic acid synthase

pfam16881
Location:15 → 110

LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

65548840..65567766

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030254913.1 → XP_030110773.1 lipoyl synthase, mitochondrial isoform X1

Conserved Domains (2) summary

PLN02428
Location:100 → 270

PLN02428; lipoic acid synthase

pfam16881
Location:15 → 72

LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family