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

Gene ID: 79464, updated on 26-Sep-2022

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. 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
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Genomic context

See Lias in Genome Data Viewer
Location:
5; 5 C3.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 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 ribosomal protein L9 Neighboring gene VISTA enhancer mm1569 Neighboring gene UDP-glucose dehydrogenase Neighboring gene small integral membrane protein 14

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

General protein information

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_001310612.1NP_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/Swiss-Prot
    Q99M04
    UniProtKB/TrEMBL
    A0A0M3HEP3
    Related
    ENSMUSP00000031101.5, ENSMUST00000031101.10
    Conserved Domains (3) summary
    cd01335
    Location:49245
    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:1280
    PRK05481; lipoyl synthase; Provisional
    pfam16881
    Location:126
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family
  2. NM_024471.5NP_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
    Related
    ENSMUSP00000113228.3, ENSMUST00000122026.6
    Conserved Domains (3) summary
    cd01335
    Location:133329
    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:41373
    PLN02428; lipoic acid synthase
    pfam16881
    Location:15110
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_030254913.1XP_030110773.1  lipoyl synthase, mitochondrial isoform X1

    Conserved Domains (2) summary
    PLN02428
    Location:100270
    PLN02428; lipoic acid synthase
    pfam16881
    Location:1572
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family