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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LIPT1
lipoyltransferase 1
Chromosome 2 Β· 2q11.2
NCBI Gene: 51601Ensembl: ENSG00000144182.18HGNC: HGNC:29569UniProt: Q9Y234
31PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionprotein bindinglipoyltransferase activitycytoplasmlipoyl transferase 1 deficiencyLeigh syndromegenetic disorderFailure to thrive
✦AI Summary

LIPT1 encodes lipoyltransferase 1, a mitochondrial enzyme that catalyzes the transfer of lipoyl moieties from lipoyl-protein H of the glycine cleavage system to E2 subunits of key metabolic complexes including pyruvate dehydrogenase complex (PDCE2) and Ξ±-ketoglutarate dehydrogenase complex 1. This lipoylation process is essential for the enzymatic function of these complexes in the tricarboxylic acid cycle 2. LIPT1 deficiency causes Leigh disease with secondary deficiency of pyruvate and Ξ±-ketoglutarate dehydrogenases, characterized by impaired cellular respiration and distinctive metabolic abnormalities 1. The enzyme's function is critical for maintaining cellular energy metabolism, as demonstrated by its role in regulating cuproptosis, a copper-induced cell death mechanism 34. LIPT1 expression levels have significant clinical implications across multiple cancer types: it acts as a tumor suppressor in lung cancer and bladder cancer, where higher expression correlates with better prognosis 43, while paradoxically showing oncogenic properties in hepatocellular carcinoma through metabolic reprogramming 5. Additionally, LIPT1 plays a role in DNA damage repair by influencing homologous recombination pathways, making it a potential target for radiosensitization in cancer therapy 2.

Sources cited
1
LIPT1 catalyzes transfer of lipoyl moieties to metabolic enzyme complexes and its deficiency causes Leigh disease
PMID: 24341803
2
LIPT1 facilitates enzymatic functions in TCA cycle and influences DNA damage repair pathways
PMID: 40073141
3
LIPT1 regulates cuproptosis and acts as tumor suppressor in bladder cancer
PMID: 39198615
4
LIPT1 expression correlates with favorable prognosis in lung cancer
PMID: 38041690
5
LIPT1 upregulation is associated with poor prognosis and metabolic dysregulation in hepatocellular carcinoma
PMID: 37668796
Disease Associationsβ“˜21
lipoyl transferase 1 deficiencyOpen Targets
0.81Strong
Leigh syndromeOpen Targets
0.38Weak
genetic disorderOpen Targets
0.34Weak
Abnormal cardiovascular system morphologyOpen Targets
0.27Weak
Abnormal optic nerve morphologyOpen Targets
0.27Weak
Failure to thriveOpen Targets
0.27Weak
Hearing impairmentOpen Targets
0.27Weak
HypotoniaOpen Targets
0.27Weak
cancerOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
temporal lobe epilepsyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
chromophobe renal cell carcinomaOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
lumbar disc degenerationOpen Targets
0.05Suggestive
non-alcoholic steatohepatitisOpen Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
gliomaOpen Targets
0.03Suggestive
Lipoyltransferase 1 deficiencyUniProt
Pathogenic Variants7
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)Pathogenic
Lipoyl transferase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 292
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe)Likely pathogenic
Lipoyl transferase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 71
NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser)Likely pathogenic
Lipoyl transferase 1 deficiency|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 44
NM_145199.3(LIPT1):c.244C>T (p.Gln82Ter)Likely pathogenic
Lipoyl transferase 1 deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 82
NM_145199.3(LIPT1):c.2T>C (p.Met1Thr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 1
NM_145199.3(LIPT1):c.806G>A (p.Trp269Ter)Likely pathogenic
Lipoyl transferase 1 deficiency
β˜…β˜†β˜†β˜†β†’ Residue 269
NM_145199.3(LIPT1):c.535A>G (p.Thr179Ala)Pathogenic
Lipoyl transferase 1 deficiency
β˜†β˜†β˜†β˜†2013β†’ Residue 179
View on ClinVar β†—
Related Genes
DLSTProtein interaction100%PDHBProtein interaction100%ART3Protein interaction100%NFU1Protein interaction100%OXSMProtein interaction98%ACSM1Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
57%
Heart
46%
Liver
42%
Lung
31%
Brain
23%
Gene Interaction Network
Click a node to explore
LIPT1DLSTPDHBART3NFU1OXSMACSM1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y234
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.19LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.59–1.19]
RankingsWhere LIPT1 stands among ~20K protein-coding genes
  • #11,737of 20,598
    Most Researched31
  • #3,248of 5,498
    Most Pathogenic Variants7
  • #12,467of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedLIPT1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
FDX1 regulates cellular protein lipoylation through direct binding to LIAS.
PMID: 37453661
J Biol Chem Β· 2023
1.00
2
o8G-modified circKIAA1797 promotes lung cancer development by inhibiting cuproptosis.
PMID: 40176113
J Exp Clin Cancer Res Β· 2025
0.90
3
m
PMID: 39198615
Oncogene Β· 2024
0.80
4
Lipoylation inhibition enhances radiation control of lung cancer by suppressing homologous recombination DNA damage repair.
PMID: 40073141
Sci Adv Β· 2025
0.70
5
Cuproptosis-related gene
PMID: 38041690
Biomol Biomed Β· 2024
0.60