Details for: LIPT1

Gene ID: 51601

Symbol: LIPT1

Ensembl ID: ENSG00000144182

Description: lipoyltransferase 1

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 61.9113
    Cell Significance Index: -9.6300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 35.0886
    Cell Significance Index: -8.9000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 24.1293
    Cell Significance Index: -9.9400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 23.4049
    Cell Significance Index: -11.0500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.2322
    Cell Significance Index: -10.1500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.2738
    Cell Significance Index: -8.7700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.7090
    Cell Significance Index: -10.6900
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: 2.6396
    Cell Significance Index: 35.6200
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.0621
    Cell Significance Index: 7.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9939
    Cell Significance Index: 897.4600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8803
    Cell Significance Index: 52.8500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8321
    Cell Significance Index: 90.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6778
    Cell Significance Index: 110.2500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4452
    Cell Significance Index: 30.7900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3597
    Cell Significance Index: 22.6700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3134
    Cell Significance Index: 8.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3124
    Cell Significance Index: 14.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2782
    Cell Significance Index: 8.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2336
    Cell Significance Index: 5.0600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2106
    Cell Significance Index: 10.9400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1928
    Cell Significance Index: 36.7000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1614
    Cell Significance Index: 4.3300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1547
    Cell Significance Index: 9.9800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1482
    Cell Significance Index: 19.0000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1476
    Cell Significance Index: 20.2700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1418
    Cell Significance Index: 16.5200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1093
    Cell Significance Index: 21.9300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1064
    Cell Significance Index: 4.9600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0970
    Cell Significance Index: 11.9300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0882
    Cell Significance Index: 39.0100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0853
    Cell Significance Index: 24.5500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0774
    Cell Significance Index: 42.2900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0745
    Cell Significance Index: 7.3700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0705
    Cell Significance Index: 12.7100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0644
    Cell Significance Index: 1.6100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0643
    Cell Significance Index: 2.2600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0455
    Cell Significance Index: 16.3100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0323
    Cell Significance Index: 0.5400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0291
    Cell Significance Index: 20.1600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0249
    Cell Significance Index: 4.2500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0160
    Cell Significance Index: 1.8900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0068
    Cell Significance Index: 0.4800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0010
    Cell Significance Index: -0.7000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0044
    Cell Significance Index: -0.2200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0056
    Cell Significance Index: -10.4700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0068
    Cell Significance Index: -12.4800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0080
    Cell Significance Index: -0.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0081
    Cell Significance Index: -12.4100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0082
    Cell Significance Index: -11.1900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0111
    Cell Significance Index: -8.3900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0127
    Cell Significance Index: -9.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0128
    Cell Significance Index: -1.6600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0138
    Cell Significance Index: -1.0600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0147
    Cell Significance Index: -9.3200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0150
    Cell Significance Index: -8.4700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0155
    Cell Significance Index: -0.7300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0169
    Cell Significance Index: -0.5400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0170
    Cell Significance Index: -0.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0201
    Cell Significance Index: -2.0500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0223
    Cell Significance Index: -0.5700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0243
    Cell Significance Index: -11.0500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0334
    Cell Significance Index: -2.4900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0349
    Cell Significance Index: -1.8300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0379
    Cell Significance Index: -0.4300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0440
    Cell Significance Index: -0.3700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0526
    Cell Significance Index: -1.4100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0546
    Cell Significance Index: -0.5700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0554
    Cell Significance Index: -6.3500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0565
    Cell Significance Index: -11.9000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0608
    Cell Significance Index: -0.7800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0639
    Cell Significance Index: -9.2900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0642
    Cell Significance Index: -3.6000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0738
    Cell Significance Index: -1.9400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0837
    Cell Significance Index: -1.2000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0865
    Cell Significance Index: -1.1800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1056
    Cell Significance Index: -8.3600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1093
    Cell Significance Index: -6.7200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1136
    Cell Significance Index: -4.6600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1217
    Cell Significance Index: -7.4600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1305
    Cell Significance Index: -3.7400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1472
    Cell Significance Index: -3.4000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1681
    Cell Significance Index: -5.8900
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.1807
    Cell Significance Index: -1.9200
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.1833
    Cell Significance Index: -2.1600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1854
    Cell Significance Index: -3.8800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1918
    Cell Significance Index: -5.6500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2206
    Cell Significance Index: -4.8300
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.2217
    Cell Significance Index: -2.9900
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.2295
    Cell Significance Index: -1.4200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2437
    Cell Significance Index: -7.9800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2449
    Cell Significance Index: -7.8000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2452
    Cell Significance Index: -9.0000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2529
    Cell Significance Index: -6.7700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2568
    Cell Significance Index: -4.4400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2588
    Cell Significance Index: -7.6000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2751
    Cell Significance Index: -3.9400
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.2860
    Cell Significance Index: -4.9300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2911
    Cell Significance Index: -6.0800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2943
    Cell Significance Index: -5.2000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2985
    Cell Significance Index: -6.4500

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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:** LIPT1 is a member of the lipoyltransferase family, which is involved in the transfer of lipoyl groups to proteins. This enzyme is characterized by its ability to catalyze the transfer of lipoyl groups to specific amino acids, resulting in the formation of lipoylated proteins. LIPT1 is specifically involved in the biosynthesis of lipoic acid, a coenzyme that plays a crucial role in various cellular processes, including energy metabolism, antioxidant defenses, and DNA synthesis. **Pathways and Functions:** LIPT1 is involved in several cellular pathways, including: 1. **Lipid Metabolic Process:** LIPT1 is crucial for the biosynthesis of lipoic acid, which is a key player in lipid metabolism. Lipoic acid is involved in the regulation of fatty acid oxidation, glucose metabolism, and energy production. 2. **Protein Binding:** LIPT1 is involved in the transfer of lipoyl groups to specific amino acids, resulting in the formation of lipoylated proteins. These proteins are involved in various cellular processes, including energy metabolism, antioxidant defenses, and DNA synthesis. 3. **Protein Modification Process:** LIPT1 is involved in the modification of proteins through the transfer of lipoyl groups. This process is essential for the regulation of protein function and activity. 4. **Mitochondrial Matrix:** LIPT1 is localized to the mitochondrial matrix, where it is involved in the regulation of energy metabolism and antioxidant defenses. **Clinical Significance:** Dysregulation of LIPT1 has been implicated in various diseases, including: 1. **Metabolic Disorders:** LIPT1 plays a crucial role in lipid metabolism, and dysregulation of this enzyme has been linked to metabolic disorders, such as obesity and type 2 diabetes. 2. **Neurodegenerative Diseases:** LIPT1 is involved in the regulation of energy metabolism and antioxidant defenses in neurons. Dysregulation of this enzyme has been linked to neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 3. **Cancer:** LIPT1 is involved in the regulation of protein function and activity, and dysregulation of this enzyme has been linked to cancer development and progression. In conclusion, LIPT1 is a gene that plays a crucial role in lipid metabolism and protein modification. Its dysregulation has been implicated in various diseases, including metabolic disorders, neurodegenerative diseases, and cancer. Further research is needed to fully understand the mechanisms by which LIPT1 regulates cellular processes and to explore its potential as a therapeutic target for the treatment of these diseases.

Genular Protein ID: 847060371

Symbol: LIPT_HUMAN

Name: Lipoate biosynthesis protein

UniProtKB Accession Codes:

Q9Y234 Q4ZFZ1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 11 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 7 Ensembl 3 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 5 Rhea 9 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10103005

Title: Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene.

PubMed ID: 10103005

DOI: 10.1046/j.1432-1327.1999.00204.x

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: 29987032

Title: Protein moonlighting elucidates the essential human pathway catalyzing lipoic acid assembly on its cognate enzymes.

PubMed ID: 29987032

DOI: 10.1073/pnas.1805862115

PubMed ID: 24341803

Title: Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.

PubMed ID: 24341803

DOI: 10.1186/1750-1172-8-192

PubMed ID: 24256811

Title: Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

PubMed ID: 24256811

DOI: 10.1093/hmg/ddt585

PubMed ID: 29681092

Title: LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

PubMed ID: 29681092

DOI: 10.1002/ajmg.a.38654

Sequence Information:

  • Length: 373
  • Mass: 42479
  • Checksum: 51E72E1E4F943C96
  • Sequence:
    • MLIPFSMKNC FQLLCNCQVP AAGFKKTVKN GLILQSISND VYQNLAVEDW IHDHMNLEGK 
PILFFWQNSP SVVIGRHQNP WQECNLNLMR EEGIKLARRR SGGGTVYHDM GNINLTFFTT 
KKKYDRMENL KLIVRALNAV QPQLDVQATK RFDLLLDGQF KISGTASKIG RTTAYHHCTL 
LCSTDGTFLS SLLKSPYQGI RSNATASIPS LVKNLLEKDP TLTCEVLMNA VATEYAAYHQ 
IDNHIHLINP TDETLFPGIN SKAKELQTWE WIYGKTPKFS INTSFHVLYE QSHLEIKVFI 
DIKNGRIEIC NIEAPDHWLP LEIRDKLNSS LIGSKFCPTE TTMLTNILLR TCPQDHKLNS 
KWNILCEKIK GIM

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.