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FLASH GENE
Symbol LIAS contributors: mct - updated : 20-09-2017
HGNC name lipoic acid synthetase
HGNC id 16429
Corresponding disease
LIASD lipoic acid synthetase deficiency
Location 4p14      Physical location : 39.460.664 - 39.479.269
Synonym name lipoate synthase
Synonym symbol(s) LAS, LIP1, FLJ22636, HUSSY-01, LS, Lip-syn, MGC23245, LASY
EC.number 2.8.1.8
DNA
TYPE functioning gene
STRUCTURE 18.61 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
KIAA1239 4p15.1-p14 KIAA1239 protein LOC389205 4 similar to LINE-1 REVERSE TRANSCRIPTASE HOMOLOG FLJ11017 4p14 hypothetical protein FLJ11017 PGM2 4p14-q12 phosphoglucomutase 2 PTTG2 4p12 pituitary tumor-transforming 2 LOC338096 4p14 proteasome activator subunit 2 pseudogene MRPS33P2 4p14 mitochondrial ribosomal protein S33 pseudogene 2 TBC1D1 4p14 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 FLJ13197 4p14 hypothetical protein FLJ13197 KLF3 4p14 Kruppel-like factor 3 (basic) TLR10 4p14 toll-like receptor 10 TLR1 4p14 toll-like receptor 1 TLR6 4p16.1 toll-like receptor 6 LOC92689 4p14 hypothetical protein BC001096 FLJ23235 4p14 hypothetical protein FLJ23235 KLHL5 4p15.1-p13 kelch-like 5 (Drosophila) PWDMP 4p14 WD repeat membrane protein PWDMP RFC1 4p14-p13 replication factor C (activator 1) 1, 145kDa LOC152831 4p14 klotho beta like RPL9 4p13 ribosomal protein L9 LIAS 4p14 lipoic acid synthetase LOC391645 4 similar to WD repeat domain 5; Bmp2-induced gene UGDH 4p15.1 UDP-glucose dehydrogenase LOC201895 4p14 hypothetical protein LOC201895 HIP2 4p14 huntingtin interacting protein 2 LOC391646 4 similar to chromosome 6 open reading frame 46; Em:AF134726.1 KIAA0648 4p15.1-p11 similar to chromosome 6 open reading frame 46; Em:AF134726.1 PABPCP1 4p14 poly(A) binding protein, cytoplasmic, pseudogene 1 LOC391647 4 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC344967 4p14 similar to cytosolic acyl coenzyme A thioester hydrolase N4BP2 4p14 Nedd4 binding protein 2 ARHH 4p13 ras homolog gene family, member H LOC339997 4p14 hypothetical LOC339997 CHRNA9 4p15.1-p14 cholinergic receptor, nicotinic, alpha polypeptide 9 FLJ20273 4p13-p12 RNA-binding protein FLJ14001 4p14 hypothetical protein FLJ14001 APBB2 4p15.1-p14 amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like) UCHL1 4p15.1-p14 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) KIAA1102 4p13-p11 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) PHOX2B 4p12 paired-like homeobox 2b
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1743 - 372 - 2001 11389890
10 - 1631 - 322 - 2001 11389890
10 - 1635 - 329 - 2001 11389890
4 - 702 - 142 - 2001 11389890
3 - 610 - 100 - 2001 11389890
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
iron sulfur protein
conjugated MetalloP
HOMOLOGY
interspecies ortholog to murine Lias
homolog to yeast LIP-5
Homologene
FAMILY biotin and lipoic acid synthetase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
basic FUNCTION
  • involved in the synthesis of alpha-(+)-lipoic acid
  • may be involved in the sulfur insertion chemistry in lipoate biosynthesis
  • involved in the endogenous synthesis of lipoic acid, a potent mitochondrial antioxidant
  • in mitochondria, lipoic acid synthase produces alpha-lipoic acid, an antioxidant and an essential cofactor in alpha-ketoacid dehydrogenase complexes, which participate in glucose oxidation and ATP generation
  • lipoic acid is synthesized within the mitochondria by the enzyme, Lipoic acid synthase (LIAS)
  • LIPT2 and LIAS are involved in the lipoylation of GCS H protein
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism cofactor
    signaling
    lipoic acid biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LIASD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    results in an overall disturbance in the antioxidant defense network, leading to increased inflammation, insulin resistance, and mitochondrial dysfunction
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mitochondria in proximal tubular cells were particularly sensitive to damage in diabetic mice with reduced lipoic acid production