LIPT1: Lipoyltransferase 1 – Key Enzyme in Mitochondrial Metabolism
Essential for lipoic acid biosynthesis and mitochondrial enzyme function; mutations cause metabolic disorders.
Gene Information Card
| Symbol | LIPT1 |
|---|---|
| Full Name | lipoyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 51601 ncbi.nlm.nih.gov/gene/51601 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9Y234 |
| OMIM ID | 610284 |
| HGNC ID | 29569 |
| Aliases | lipoyltransferase, LIPT1, LIPT1_HUMAN |
Description
LIPT1 encodes lipoyltransferase 1, a mitochondrial enzyme that catalyzes the transfer of lipoic acid to the E2 subunits of pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, branched-chain alpha-keto acid dehydrogenase, and the glycine cleavage system. This post-translational modification is essential for the activity of these key metabolic complexes. Mutations in LIPT1 cause lipoyltransferase 1 deficiency, a rare autosomal recessive disorder characterized by severe metabolic acidosis, encephalopathy, and early death.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipoyltransferase 1 deficiency | Loss-of-function mutations impair lipoic acid attachment to mitochondrial enzyme complexes, disrupting energy metabolism and causing accumulation of toxic metabolites. | OMIM #616299; ClinVar; PMID: 25293719 |
| Pyruvate dehydrogenase deficiency (secondary) | Defective lipoylation of the E2 subunit leads to reduced pyruvate dehydrogenase activity. | OMIM #312170; PMID: 25293719 |
| Multiple mitochondrial dysfunctions syndrome | LIPT1 mutations can present with features overlapping multiple mitochondrial dysfunction syndromes. | ClinVar; PMID: 25293719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Heart | 10.2 | High |
| Kidney | 8.9 | Medium |
| Skeletal Muscle | 7.3 | Medium |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocyte line; high expression |
| K-562 | 6.5 | Myelogenous leukemia line; moderate expression |
| HeLa | 4.8 | Cervical carcinoma line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; predicted loss of function |
| c.398G>A (p.Arg133Gln) | Missense | Rare | Reduced lipoyltransferase activity; associated with disease |
| c.746T>C (p.Leu249Pro) | Missense | Rare | Impaired protein stability and function |
Mutation functional classification
Loss of Function (LOF)
Most reported LIPT1 mutations are loss-of-function, leading to reduced or absent lipoyltransferase activity and impaired mitochondrial metabolism.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LIPT1.
Dominant Negative (DN)
No dominant-negative mutations have been described; the disorder is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • lipoyltransferase activity (GO:0008480) |
| • lipoate biosynthetic process (GO:0009107) | • transferase activity (GO:0016740) |
| • identical protein binding (GO:0042802) |
Pathways
• Lipoic acid metabolism (Reactome: R-HSA-6791462)
• Pyruvate metabolism and citric acid (TCA) cycle (KEGG: hsa00020)
• Glycine
• serine
• and threonine metabolism (KEGG: hsa00260)
Protein Summary
LIPT1 is a 373-amino acid mitochondrial protein that functions as a lipoyltransferase. It catalyzes the ATP-dependent transfer of lipoic acid from lipoyl-AMP to the lysine residues of target proteins, primarily the E2 subunits of alpha-ketoacid dehydrogenase complexes. The protein contains a conserved lipoyl-binding domain and is essential for the proper assembly and activity of these multienzyme complexes. Defects in LIPT1 lead to severe metabolic disturbances.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIPT1 Knockout HEK293 Cell Line | EDJ-KQ51329 | Human | 51601 | Details Get a Quote |
| LIPT1 Knockout HeLa Cell Line | EDJ-KQ56332 | Human | 51601 | Details Get a Quote |
| LIPT1 Knockout A-549 Cell Line | EDJ-KQ64820 | Human | 51601 | Details Get a Quote |
| LIPT1 Knockout HCT 116 Cell Line | EDJ-KQ73265 | Human | 51601 | Details Get a Quote |
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