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Aliases for LIAS Gene

Aliases for LIAS Gene

  • Lipoic Acid Synthetase 2 3 5
  • Lipoate Synthase 3 4
  • EC 2.8.1.8 4 63
  • Lip-Syn 3 4
  • LAS 3 4
  • LS 3 4
  • Lipoic Acid Synthase 4
  • HUSSY-01 3
  • HGCLAS 3
  • PDHLD 3
  • LIP1 3

External Ids for LIAS Gene

Previous GeneCards Identifiers for LIAS Gene

  • GC04P039635
  • GC04P039295
  • GC04P039357
  • GC04P039283
  • GC04P039137
  • GC04P038785

Summaries for LIAS Gene

Entrez Gene Summary for LIAS Gene

  • The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for LIAS Gene

LIAS (Lipoic Acid Synthetase) is a Protein Coding gene. Diseases associated with LIAS include pyruvate dehydrogenase lipoic acid synthetase deficiency and lipoic acid synthetase deficiency. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and lipoate synthase activity.

UniProtKB/Swiss-Prot for LIAS Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIAS Gene

Genomics for LIAS Gene

Regulatory Elements for LIAS Gene

Promoters for LIAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LIAS on UCSC Golden Path with GeneCards custom track

Genomic Location for LIAS Gene

Chromosome:
4
Start:
39,459,000 bp from pter
End:
39,477,653 bp from pter
Size:
18,654 bases
Orientation:
Plus strand

Genomic View for LIAS Gene

Genes around LIAS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LIAS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LIAS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIAS Gene

Proteins for LIAS Gene

  • Protein details for LIAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43766-LIAS_HUMAN
    Recommended name:
    Lipoyl synthase, mitochondrial
    Protein Accession:
    O43766
    Secondary Accessions:
    • A8K873
    • C9JCF6
    • Q8IV62

    Protein attributes for LIAS Gene

    Size:
    372 amino acids
    Molecular mass:
    41911 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LIAS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LIAS Gene

Proteomics data for LIAS Gene at MOPED

Selected DME Specific Peptides for LIAS Gene

Post-translational modifications for LIAS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LIAS Gene

Antibody Products

Domains & Families for LIAS Gene

Protein Domains for LIAS Gene

Suggested Antigen Peptide Sequences for LIAS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43766

UniProtKB/Swiss-Prot:

LIAS_HUMAN :
  • Belongs to the radical SAM superfamily. Lipoyl synthase family.
Family:
  • Belongs to the radical SAM superfamily. Lipoyl synthase family.
genes like me logo Genes that share domains with LIAS: view

No data available for Gene Families for LIAS Gene

Function for LIAS Gene

Molecular function for LIAS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Protein N(6)-(octanoyl)lysine + 2 sulfur-(sulfur carrier) + 2 S-adenosyl-L-methionine + 2 reduced [2Fe-2S] ferredoxin = protein N(6)-(lipoyl)lysine + 2 (sulfur carrier) + 2 L-methionine + 2 5-deoxyadenosine + 2 oxidized [2Fe-2S] ferredoxin.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for LIAS Gene

Gene Ontology (GO) - Molecular Function for LIAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with LIAS: view
genes like me logo Genes that share phenotypes with LIAS: view

Human Phenotype Ontology for LIAS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LIAS Gene

MGI Knock Outs for LIAS:

Animal Model Products

  • Taconic Biosciences Mouse Models for LIAS

miRNA for LIAS Gene

miRTarBase miRNAs that target LIAS

No data available for Transcription Factor Targets and HOMER Transcription for LIAS Gene

Localization for LIAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIAS Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LIAS Gene COMPARTMENTS Subcellular localization image for LIAS gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 3
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for LIAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with LIAS: view

Pathways & Interactions for LIAS Gene

genes like me logo Genes that share pathways with LIAS: view

Pathways by source for LIAS Gene

UniProtKB/Swiss-Prot O43766-LIAS_HUMAN

  • Pathway: Protein modification; protein lipoylation via endogenous pathway; protein N(6)-(lipoyl)lysine from octanoyl-[acyl-carrier-protein]: step 2/2.

Gene Ontology (GO) - Biological Process for LIAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0006979 response to oxidative stress ISS --
GO:0009107 lipoate biosynthetic process ISS --
GO:0009249 protein lipoylation IBA --
genes like me logo Genes that share ontologies with LIAS: view

No data available for SIGNOR curated interactions for LIAS Gene

Drugs & Compounds for LIAS Gene

(5) Drugs for LIAS Gene - From: HMDB, DrugBank, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lipoic Acid Approved Nutra Target 0
L-Methionine Approved Nutra 0
S-Adenosylmethionine Approved Nutra 0
Hydrogen sulfide Pharma 12

(7) Additional Compounds for LIAS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-lipoic acid
  • (S)-(−)-lipoic acid
  • (S)-1,2-dithiolane-3-pentanoic acid
  • (S)-alpha-lipoic acid
  • L-1,2-dithiolane 3-valeric acid
  • L-6,8-thioctic acid
1077-27-6
5'-Deoxyadenosine
  • 5'-Deoxy-adenosine
4754-39-6
N(6)-(Octanoyl)lysine
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
genes like me logo Genes that share compounds with LIAS: view

Transcripts for LIAS Gene

Unigene Clusters for LIAS Gene

Lipoic acid synthetase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LIAS Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - - - -
SP3: -
SP4:
SP5:

Relevant External Links for LIAS Gene

GeneLoc Exon Structure for
LIAS
ECgene alternative splicing isoforms for
LIAS

Expression for LIAS Gene

mRNA expression in normal human tissues for LIAS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LIAS Gene

This gene is overexpressed in Heart (44.7) and Testis (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LIAS Gene



SOURCE GeneReport for Unigene cluster for LIAS Gene Hs.550502

genes like me logo Genes that share expression patterns with LIAS: view

Protein tissue co-expression partners for LIAS Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LIAS Gene

Orthologs for LIAS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LIAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LIAS 36
  • 100 (a)
OneToOne
LIAS 35
  • 99.73 (n)
  • 99.73 (a)
cow
(Bos Taurus)
Mammalia LIAS 36
  • 94 (a)
OneToOne
LIAS 35
  • 92.29 (n)
  • 94.09 (a)
dog
(Canis familiaris)
Mammalia LIAS 35
  • 92.48 (n)
  • 95.11 (a)
LIAS 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lias 36
  • 90 (a)
OneToOne
Lias 16
Lias 35
  • 87.35 (n)
  • 91.06 (a)
oppossum
(Monodelphis domestica)
Mammalia LIAS 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LIAS 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lias 35
  • 86.63 (n)
  • 91.87 (a)
chicken
(Gallus gallus)
Aves LIAS 35
  • 77.34 (n)
  • 87.19 (a)
LIAS 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LIAS 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8349 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101735113 35
  • 75.65 (n)
  • 86.09 (a)
Str.6920 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14170 35
zebrafish
(Danio rerio)
Actinopterygii lias 36
  • 72 (a)
OneToOne
lias 35
  • 69.63 (n)
  • 77.09 (a)
zgc66080 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010568 35
  • 59.78 (n)
  • 67.26 (a)
fruit fly
(Drosophila melanogaster)
Insecta Las 35
  • 62.19 (n)
  • 68.06 (a)
Las 37
  • 67 (a)
Las 36
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea M01F1.3 35
  • 59.28 (n)
  • 59.18 (a)
M01F1.3 36
  • 58 (a)
OneToOne
M01F1.3 37
  • 57 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR231C 35
  • 57.49 (n)
  • 60.18 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LIP5 35
  • 59.66 (n)
  • 59.16 (a)
LIP5 36
  • 50 (a)
OneToOne
LIP5 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F00836g 35
  • 61.45 (n)
  • 61.66 (a)
soybean
(Glycine max)
eudicotyledons Gma.3319 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G08415 35
  • 60.76 (n)
  • 61.87 (a)
corn
(Zea mays)
Liliopsida Zm.16017 35
rice
(Oryza sativa)
Liliopsida Os05g0511500 35
  • 61.37 (n)
  • 64.53 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00565 35
  • 60.3 (n)
  • 65.87 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lip5 35
  • 60 (n)
  • 61.82 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4454 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9415 36
  • 65 (a)
OneToOne
Species with no ortholog for LIAS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LIAS Gene

ENSEMBL:
Gene Tree for LIAS (if available)
TreeFam:
Gene Tree for LIAS (if available)

Paralogs for LIAS Gene

No data available for Paralogs for LIAS Gene

Variants for LIAS Gene

Sequence variations from dbSNP and Humsavar for LIAS Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs144133667 Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) 39,470,027(+) GGTTC(A/G)TGATC reference, missense
rs749915 -- 39,473,248(-) GTTAA(C/T)GGCCT intron-variant
rs749916 -- 39,473,540(-) AGATG(C/T)TTGAC intron-variant
rs1048140 -- 39,477,212(+) GATGT(A/G)CCCCA utr-variant-3-prime
rs2259073 -- 39,473,454(-) TTTAC(G/T)ATAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LIAS Gene

Variant ID Type Subtype PubMed ID
nsv878942 CNV Loss 21882294
nsv878943 CNV Gain 21882294
dgv5527n71 CNV Loss 21882294

Variation tolerance for LIAS Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LIAS Gene

HapMap Linkage Disequilibrium report
LIAS
Human Gene Mutation Database (HGMD)
LIAS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIAS Gene

Disorders for LIAS Gene

MalaCards: The human disease database

(8) MalaCards diseases for LIAS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pyruvate dehydrogenase lipoic acid synthetase deficiency
  • pdhld
lipoic acid synthetase deficiency
  • pyruvate dehydrogenase lipoic acid synthetase deficiency
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
cecal disease
  • disorder of cecum
reticulate acropigmentation of kitamura
  • rapk
- elite association - COSMIC cancer census association via MalaCards
Search LIAS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LIAS_HUMAN
  • 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:0000269 PubMed:22152680}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LIAS

Genetic Association Database (GAD)
LIAS
Human Genome Epidemiology (HuGE) Navigator
LIAS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LIAS
genes like me logo Genes that share disorders with LIAS: view

No data available for Genatlas for LIAS Gene

Publications for LIAS Gene

  1. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F. … Valle G. (Yeast 2001) 2 3 4 67
  2. Do mammalian cells synthesize lipoic acid? Identification of a mouse cDNA encoding a lipoic acid synthase located in mitochondria. (PMID: 11389890) Morikawa T. … Wada H. (FEBS Lett. 2001) 3 25 26
  3. Plasmodium falciparum possesses organelle-specific alpha-keto acid dehydrogenase complexes and lipoylation pathways. (PMID: 16246025) GA1nther S. … MA1ller S. (Biochem. Soc. Trans. 2005) 25 26
  4. The human malaria parasite Plasmodium falciparum has distinct organelle-specific lipoylation pathways. (PMID: 15225307) Wrenger C. … MA1ller S. (Mol. Microbiol. 2004) 25 26
  5. The lipoate synthase from Escherichia coli is an iron-sulfur protein. (PMID: 10403368) Ollagnier-de Choudens S. … Fontecave M. (FEBS Lett. 1999) 25 26

Products for LIAS Gene

Sources for LIAS Gene

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