Details for: LIAS

Gene ID: 11019

Symbol: LIAS

Ensembl ID: ENSG00000121897

Description: lipoic acid synthetase

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168,483
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.3
    Marker Score: 1,196
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.06
    Marker Score: 39,125
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.04
    Marker Score: 704
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.02
    Marker Score: 1,285
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,726
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,951
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,398
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,401
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.94
    Marker Score: 1,452
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.91
    Marker Score: 731
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,710
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.89
    Marker Score: 8,418
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.89
    Marker Score: 9,239
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.89
    Marker Score: 3,674
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,293
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.87
    Marker Score: 861
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.86
    Marker Score: 4,905
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.86
    Marker Score: 52,764
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.86
    Marker Score: 8,149
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.85
    Marker Score: 3,301
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.85
    Marker Score: 1,991
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.82
    Marker Score: 1,184
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.82
    Marker Score: 17,528
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.82
    Marker Score: 12,782
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.8
    Marker Score: 1,523
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.8
    Marker Score: 30,522
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.8
    Marker Score: 6,895
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,266
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.77
    Marker Score: 11,567
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 582
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.75
    Marker Score: 14,961
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.75
    Marker Score: 439
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 298
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.73
    Marker Score: 362
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.71
    Marker Score: 1,040
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.7
    Marker Score: 1,670
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.7
    Marker Score: 5,369
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.69
    Marker Score: 2,717
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.68
    Marker Score: 680
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2,858
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.67
    Marker Score: 5,754
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 608
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.66
    Marker Score: 2,678
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.65
    Marker Score: 2,394
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.64
    Marker Score: 409
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.63
    Marker Score: 419
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.63
    Marker Score: 1,283
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.62
    Marker Score: 462
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.62
    Marker Score: 1,448
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.61
    Marker Score: 641
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.6
    Marker Score: 319
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.59
    Marker Score: 246
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.57
    Marker Score: 1,197
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.57
    Marker Score: 1,009
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.56
    Marker Score: 197
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.55
    Marker Score: 165
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.55
    Marker Score: 178
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.55
    Marker Score: 158
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.55
    Marker Score: 365
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.55
    Marker Score: 1,109
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.54
    Marker Score: 3,274
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.54
    Marker Score: 547
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.54
    Marker Score: 1,144
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.54
    Marker Score: 226
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 430
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.54
    Marker Score: 2,246
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.54
    Marker Score: 366
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.53
    Marker Score: 463
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.53
    Marker Score: 7,046
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.53
    Marker Score: 579
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.53
    Marker Score: 160
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.53
    Marker Score: 320
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.53
    Marker Score: 1,422
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.53
    Marker Score: 548
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.53
    Marker Score: 29,368
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.52
    Marker Score: 123
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.52
    Marker Score: 323
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.52
    Marker Score: 665
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.51
    Marker Score: 1,400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.51
    Marker Score: 235
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.51
    Marker Score: 859
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.51
    Marker Score: 558
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.5
    Marker Score: 834
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 209
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.5
    Marker Score: 519
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.5
    Marker Score: 2,043
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.5
    Marker Score: 1,191
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.5
    Marker Score: 241
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.49
    Marker Score: 25,982
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.48
    Marker Score: 517
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.48
    Marker Score: 645
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.48
    Marker Score: 264
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.48
    Marker Score: 678

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** LIAS is a metal-dependent enzyme that catalyzes the synthesis of lipoic acid from acetyl-CoA and pyruvate. This reaction is essential for the production of lipoic acid, a potent antioxidant that plays a critical role in maintaining the redox balance within cells. The enzyme is characterized by its ability to bind multiple iron and sulfur clusters, which are necessary for its catalytic activity. LIAS is also involved in various cellular processes, including glyoxylate metabolism, glycine degradation, and the response to lipopolysaccharide and oxidative stress. **Pathways and Functions:** The LIAS enzyme is integrated into multiple signaling pathways, including: 1. **Glyoxylate metabolism**: LIAS is involved in the conversion of glyoxylate to glycerol-3-phosphate, a key step in the metabolism of fatty acids and amino acids. 2. **Glycine degradation**: LIAS participates in the degradation of glycine, a crucial amino acid involved in various cellular processes, including neurotransmission and immune response. 3. **Inflammatory response**: LIAS is activated in response to lipopolysaccharide, a bacterial toxin that triggers a potent inflammatory response. 4. **Oxidative stress mitigation**: Lipoic acid, produced by LIAS, is a potent antioxidant that helps to neutralize reactive oxygen species (ROS) and maintain cellular redox balance. 5. **Lipoate biosynthetic process**: LIAS is essential for the synthesis of lipoic acid, a cofactor required for various metabolic reactions, including the citric acid cycle and fatty acid synthesis. **Clinical Significance:** Dysregulation of LIAS has been implicated in various diseases, including: 1. **Neurodegenerative disorders**: LIAS mutations have been linked to neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, characterized by impaired oxidative stress mitigation and mitochondrial dysfunction. 2. **Metabolic disorders**: LIAS variants have been associated with metabolic disorders, including type 2 diabetes and fatty liver disease, characterized by impaired insulin sensitivity and lipid metabolism. 3. **Inflammatory disorders**: LIAS is involved in the regulation of inflammatory responses, and its dysregulation has been implicated in autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis. In conclusion, LIAS is a multifaceted enzyme that plays a critical role in various metabolic and immune pathways. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding the complex mechanisms underlying its function. Further research is necessary to elucidate the precise mechanisms of LIAS and to explore its therapeutic potential in the prevention and treatment of diseases.

Genular Protein ID: 4143148993

Symbol: LIAS_HUMAN

Name: N/A

UniProtKB Accession Codes:

O43766 A8K873 C9JCF6 Q8IV62

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 19 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 5 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HAMAP 1 HAMAP-Rule 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 5 Rhea 7 SFLD 2 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11124703

Title: Characterization of 16 novel human genes showing high similarity to yeast sequences.

PubMed ID: 11124703

DOI: 10.1002/1097-0061(200101)18:1<69::aid-yea647>3.0.co;2-h

PubMed ID: 22152680

Title: Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

PubMed ID: 22152680

DOI: 10.1016/j.ajhg.2011.11.011

Sequence Information:

  • Length: 372
  • Mass: 41911
  • Checksum: A5BEACA1F36CEB74
  • Sequence:
    • MSLRCGDAAR TLGPRVFGRY FCSPVRPLSS LPDKKKELLQ NGPDLQDFVS GDLADRSTWD 
EYKGNLKRQK GERLRLPPWL KTEIPMGKNY NKLKNTLRNL NLHTVCEEAR CPNIGECWGG 
GEYATATATI MLMGDTCTRG CRFCSVKTAR NPPPLDASEP YNTAKAIAEW GLDYVVLTSV 
DRDDMPDGGA EHIAKTVSYL KERNPKILVE CLTPDFRGDL KAIEKVALSG LDVYAHNVET 
VPELQSKVRD PRANFDQSLR VLKHAKKVQP DVISKTSIML GLGENDEQVY ATMKALREAD 
VDCLTLGQYM QPTRRHLKVE EYITPEKFKY WEKVGNELGF HYTASGPLVR SSYKAGEFFL 
KNLVAKRKTK DL

Genular Protein ID: 3174713474

Symbol: B4E0L7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4E0L7

Database IDs:

Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 3 EPD 1 Ensembl 2 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 Pfam 2 Proteomes 2 RefSeq 1 VEuPathDB 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 100
  • Mass: 11391
  • Checksum: D73383013A90785B
  • Sequence:
    • MSLRCGDAAR TLGPRVFGRY FCSPVRPLSS LPDKKKELLQ NGPDLQDFVS GDLADRSTWD 
EYKGNLKRQK GERYVRKLDV PILESVGEVE NMPPPQPRSW

Genular Protein ID: 765849398

Symbol: Q6P5Q6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6P5Q6

Database IDs:

ARBA 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 EMBL 5 EPD 1 Ensembl 2 GO 2 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 2 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 2 Proteomes 2 RefSeq 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 142
  • Mass: 15801
  • Checksum: 281BB48A02A1B558
  • Sequence:
    • MSLRCGDAAR TLGPRVFGRY FCSPVRPLSS LPDKKKELLQ NGPDLQDFVS GDLADRSTWD 
EYKGNLKRQK GERLRLPPWL KTEIPMGKNY NKLKNTLRNL NLHTVCEEAR CPNIGECWGG 
GEYATATATI MVGPASTSMA LV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.