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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 58
  • Lip-Syn 3 4
  • LAS 3 4
  • LS 3 4
  • Lipoyl Synthase, Mitochondrial 3
  • 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 Hyperglycinemia, Lactic Acidosis, And Seizures and Lipoic Acid Synthetase Deficiency. Among its related pathways are Metabolism and Glyoxylate metabolism and glycine degradation. 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.

Additional gene information for LIAS Gene

No data available for CIViC summary , 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

Enhancers for LIAS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H039456 1.4 ENCODE dbSUPER 0.7 -0.1 -58 3.7 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF302 ZNF207 RPL9 PDS5A WDR19 ENSG00000250568 RFC1 KLF3-AS1 FAM114A1 UGDH-AS1 KLF3 LOC401127
GH04H039446 1.1 Ensembl ENCODE 0.4 -11.4 -11420 1.7 PKNOX1 NFIB SIN3A RAD21 ELK1 ZNF143 RUNX3 CREM ZNF202 HCFC1 RPL9 PDS5A N4BP2 KLB RNU6-887P RFC1 WDR19 ENSG00000238797 LIAS
GH04H039450 0.6 dbSUPER 0.4 -7.7 -7745 1.2 PAF1 SSRP1 POLR2A SCRT2 HNF4A ZNF384 KDM1A SUPT5H RPL9 LIAS ENSG00000238797
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LIAS on UCSC Golden Path with GeneCards custom track

Promoters for LIAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000167617 413 2801 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF302 ZNF207

Genomic Locations for LIAS Gene

Genomic Locations for LIAS Gene
chr4:39,458,587-39,485,109
(GRCh38/hg38)
Size:
26,523 bases
Orientation:
Plus strand
chr4:39,460,620-39,479,273
(GRCh37/hg19)

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

Selected DME Specific Peptides for LIAS Gene

O43766:
  • CPNIGEC
  • PLVRSSY
  • YVVLTSV
  • KTSIMLG
  • LTPDFRG
  • TLGQYMQPT
  • TATIMLMG
  • HTVCEEA
  • TSVDRDD

Post-translational modifications for LIAS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for LIAS Gene

Gene Families for LIAS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog for LIAS Gene

Gene Ontology (GO) - Molecular Function for LIAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0016740 transferase activity IEA --
GO:0016783 sulfurtransferase activity IEA --
GO:0016992 lipoate synthase activity TAS,IEA --
GO:0046872 metal ion 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

CRISPR Products

miRNA for LIAS Gene

miRTarBase miRNAs that target LIAS

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LIAS gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LIAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS,IBA --
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:0006954 inflammatory response ISS --
GO:0006979 response to oxidative stress ISS --
GO:0009107 lipoate biosynthetic process ISS,IEA --
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: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lipoic Acid Approved Nutra Target 0
L-Methionine Approved Nutra 0
Hydrogen sulfide Pharma 14

(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
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LIAS Gene



Protein tissue co-expression partners for LIAS Gene

NURSA nuclear receptor signaling pathways regulating expression of LIAS Gene:

LIAS

SOURCE GeneReport for Unigene cluster for LIAS Gene:

Hs.550502

Evidence on tissue expression from TISSUES for LIAS Gene

  • Skin(4.3)
  • Nervous system(2.3)
  • Heart(2.2)
  • Adrenal gland(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LIAS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • pharynx
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • spinal cord
genes like me logo Genes that share expression patterns with LIAS: view

Primer 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 33 34
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia LIAS 33 34
  • 92.48 (n)
cow
(Bos Taurus)
Mammalia LIAS 33 34
  • 92.29 (n)
oppossum
(Monodelphis domestica)
Mammalia LIAS 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lias 33 16 34
  • 87.35 (n)
rat
(Rattus norvegicus)
Mammalia Lias 33
  • 86.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LIAS 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves LIAS 33 34
  • 77.34 (n)
lizard
(Anolis carolinensis)
Reptilia LIAS 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101735113 33
  • 75.65 (n)
Str.6920 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8349 33
zebrafish
(Danio rerio)
Actinopterygii lias 33 34
  • 69.63 (n)
zgc66080 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14170 33
fruit fly
(Drosophila melanogaster)
Insecta Las 35 33 34
  • 62.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010568 33
  • 59.78 (n)
worm
(Caenorhabditis elegans)
Secernentea M01F1.3 35 33 34
  • 59.28 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F00836g 33
  • 61.45 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LIP5 33 34 36
  • 59.66 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR231C 33
  • 57.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G08415 33
  • 60.76 (n)
soybean
(Glycine max)
eudicotyledons Gma.3319 33
rice
(Oryza sativa)
Liliopsida Os05g0511500 33
  • 61.37 (n)
corn
(Zea mays)
Liliopsida Zm.16017 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9415 34
  • 65 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00565 33
  • 60.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lip5 33
  • 60 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4454 33
Species where no ortholog for LIAS was found in the sources mined by GeneCards:
  • 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 Pathogenic, Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) [MIM:614462] 39,470,027(+) GGTTC(A/G)TGATC nc-transcript-variant, reference, missense
rs796052703 Pathogenic 39,460,961(+) GAGAA(-/A)GGTAA nc-transcript-variant, reference, frameshift-variant
rs869312808 Pathogenic 39,467,554(+) CCTGA(A/T)TTTCG intron-variant, nc-transcript-variant, reference, missense
rs796052702 Likely pathogenic 39,462,269(+) CTTTG(C/T)GGAAT intron-variant, nc-transcript-variant, reference, missense
rs201574806 Likely benign 39,463,613(+) AGGGC(A/C)AGCCT intron-variant, reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv1123777 CNV deletion 24896259
nsv1010784 CNV gain 25217958
nsv1010189 CNV gain 25217958

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

Human Gene Mutation Database (HGMD)
LIAS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LIAS

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

Disorders for LIAS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyperglycinemia, lactic acidosis, and seizures
  • lipoic acid synthetase deficiency
lipoic acid synthetase deficiency
  • pyruvate dehydrogenase lipoic acid synthetase deficiency
cecal disease
  • disorder of cecum
glycine encephalopathy
  • non-ketotic hyperglycinemia
adrenal carcinoma
  • carcinoma of the adrenal gland
- 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
  • Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) [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 (Chichester, England) 2001) 2 3 4 60
  2. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. (PMID: 22152680) Mayr JA … Sperl W (American journal of human genetics 2011) 3 4 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. 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 letters 2001) 3 25 60

Products for LIAS Gene

Sources for LIAS Gene

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