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

Gene ID: 79464, updated on 21-Apr-2024

Summary

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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. Acts upstream of or within several processes, including lipoate biosynthetic process; neural tube closure; and response to lipopolysaccharide. Located 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, Apr 2022]
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

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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_000071.7Genomic Context describing neighboring genes Neighboring gene klotho beta Neighboring gene STARR-positive B cell enhancer ABC_E3577 Neighboring gene ribosomal protein L9 Neighboring gene VISTA enhancer mm1569 Neighboring gene STARR-seq mESC enhancer starr_13263 Neighboring gene UDP-glucose dehydrogenase Neighboring gene STARR-positive B cell enhancer ABC_E4757 Neighboring gene small integral membrane protein 14 Neighboring gene STARR-positive B cell enhancer ABC_E4758 Neighboring gene STARR-seq mESC enhancer starr_13264 Neighboring gene STARR-positive B cell enhancer ABC_E4759 Neighboring gene STARR-positive B cell enhancer ABC_E8059 Neighboring gene STARR-positive B cell enhancer ABC_E11290

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Overexpression of the Lias gene attenuates hepatic steatosis in Leprdb/db mice. Xu G, et al. J Endocrinol, 2021 Feb. PMID 33263565
  2. Reduced expression of lipoic acid synthase accelerates diabetic nephropathy. Yi X, et al. J Am Soc Nephrol, 2012 Jan. PMID 22021711, Free PMC Article
  3. Endogenous production of lipoic acid is essential for mouse development. Yi X, et al. Mol Cell Biol, 2005 Sep. PMID 16135825, Free PMC Article
  4. Influence of Different Levels of Lipoic Acid Synthase Gene Expression on Diabetic Nephropathy. Xu L, et al. PLoS One, 2016. PMID 27706190, Free PMC Article
  5. Reduced alpha-lipoic acid synthase gene expression exacerbates atherosclerosis in diabetic apolipoprotein E-deficient mice. Yi X, et al. Atherosclerosis, 2012 Jul. PMID 22658261, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. deficiency increases oxidative stress and accelerates the development of diabetic nephropathy
    Title: Reduced expression of lipoic acid synthase accelerates diabetic nephropathy.
  5. 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.
  6. 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.
  7. Development of homozygous embryos lacking Lias is retarded.
    Title: Endogenous production of lipoic acid is essential for mouse development.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (3)  1 citation
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC7254

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables iron-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
  
enables transferase activity 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 
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 PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
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
NP_077791.1
XP_030110773.1

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)

  1. 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

  2. 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

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    65548840..65567766
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99M04.1 GenPept UniProtKB/Swiss-Prot:Q99M04

Gene LinkOut

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