Seroatlas · Human Serome Atlas

LIAS

Lipoyl synthase, mitochondrial

Also known as: LAS, LIAS_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O43766
Gene
LIAS
Ensembl
ENSG00000121897
Chromosome
4
Canonical length
372 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Mitochondria

OverviewNCBI Gene

The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]

Canonical amino-acid sequenceUniProt

372 residues, UniProt reviewed canonical sequence.

>O43766|LIAS
     1  MSLRCGDAAR TLGPRVFGRY FCSPVRPLSS LPDKKKELLQ NGPDLQDFVS GDLADRSTWD
    61  EYKGNLKRQK GERLRLPPWL KTEIPMGKNY NKLKNTLRNL NLHTVCEEAR CPNIGECWGG
   121  GEYATATATI MLMGDTCTRG CRFCSVKTAR NPPPLDASEP YNTAKAIAEW GLDYVVLTSV
   181  DRDDMPDGGA EHIAKTVSYL KERNPKILVE CLTPDFRGDL KAIEKVALSG LDVYAHNVET
   241  VPELQSKVRD PRANFDQSLR VLKHAKKVQP DVISKTSIML GLGENDEQVY ATMKALREAD
   301  VDCLTLGQYM QPTRRHLKVE EYITPEKFKY WEKVGNELGF HYTASGPLVR SSYKAGEFFL
   361  KNLVAKRKTK DL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LIAS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
25 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 25 nTPM
  • tongue: 20 nTPM
  • ovary: 11 nTPM
  • heart muscle: 11 nTPM
  • testis: 9.3 nTPM
  • choroid plexus: 9 nTPM

Single-cell type

  • late spermatids: 154 nCPM
  • early spermatids: 131 nCPM
  • late primary spermatocytes: 88 nCPM
  • myonuclei: 53 nCPM
  • esophageal suprabasal cells: 48 nCPM
  • early primary spermatocytes: 46 nCPM

Immune cell

  • naive CD4 T-cell: 16 nTPM
  • MAIT T-cell: 13 nTPM
  • naive CD8 T-cell: 12 nTPM
  • memory B-cell: 10 nTPM
  • memory CD4 T-cell: 8.1 nTPM
  • memory CD8 T-cell: 7.9 nTPM

Brain region

  • white matter: 15 nTPM
  • cerebellum: 15 nTPM
  • cerebral cortex: 13 nTPM
  • hypothalamus: 13 nTPM
  • medulla oblongata: 13 nTPM
  • pons: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LIAS.

Disease | AllUniProt

Conditions LIAS is implicated in, by any mechanism.

  • Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) MIM:614462

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 458 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.84
gnomAD pLI
0
gnomAD missense Z
1.25
DepMap mean gene effect
-0.5
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LIAS as an antibody target. Whether an autoantibody or antibody against LIAS could matter depends on whether native LIAS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LIAS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LIAS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LIAS. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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