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

    Gene ID: 79464, updated on 14-Nov-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, Nov 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

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    See Lias in Genome Data Viewer
    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 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. Lias overexpression alleviates pulmonary injury induced by fine particulate matter in mice. Xu G, et al. Environ Geochem Health, 2023 Aug. PMID 37341891
    4. Endogenous production of lipoic acid is essential for mouse development. Yi X, et al. Mol Cell Biol, 2005 Sep. PMID 16135825, Free PMC Article
    5. 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

    See all (31) 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)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    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 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 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
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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