LIPT1 (lipoyltransferase 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51601
Gene name Lipoyltransferase 1
Gene symbol LIPT1
Synonyms (NCBI Gene)
LIPT1D
Chromosome 2
Chromosome location 2q11.2
Summary The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety t
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610284 29569 ENSG00000144182
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y234
Protein name Lipoyl amidotransferase LIPT1, mitochondrial (EC 2.3.1.200) (Lipoate biosynthesis protein) (Lipoate-protein ligase) (Lipoyl ligase) (Lipoyltransferase 1) (EC 2.3.1.-)
Protein function Lipoyl amidotransferase that catalyzes the transfer of lipoyl moieties from lipoyl-protein H of the glycine cleavage system (lipoyl-GCSH) to E2 subunits of the pyruvate dehydrogenase complex (PDCE2) (PubMed:29987032). Unable to catalyze the tran
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle and heart, moderately in kidney and pancreas, and detected at lower levels in liver, brain, placenta and lung. {ECO:0000269|PubMed:10103005}.
Sequence 
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGK
PILFFWQNSPSVVIGRHQNPWQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTT
KKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQFKISGTASKIGRTTAYHHCTL
LCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFI
DIKNGRIEICNIEAPDHWLPLEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNS
KWNILCEKIKGIM
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Lipoic acid metabolism
Metabolic pathways
Biosynthesis of cofactors 		  Glyoxylate metabolism and glycine degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lipoyl transferase 1 deficiency Pathogenic; Likely pathogenic rs786205156, rs767568897, rs863224892, rs137891647, rs1468529365 RCV000170325
RCV000170326
RCV003389324
RCV000351422
RCV000680033
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs863224893 -
Abnormal cardiovascular system morphology Conflicting classifications of pathogenicity rs552120721 RCV001270041
Abnormal optic nerve morphology Conflicting classifications of pathogenicity rs552120721 RCV001270041
Failure to thrive Conflicting classifications of pathogenicity rs552120721 RCV001270041
Show/Hide Text Mining Associations (28)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alpha ketoglutarate dehydrogenase deficiency Associate 24341803
Breast Neoplasms Associate 36213577, 36312586
Carcinoma Hepatocellular Associate 36195876, 37124062
Carcinoma Non Small Cell Lung Inhibit 38041690
Carcinoma Pancreatic Ductal Associate 36826087
Cerebral Infarction Associate 37983626
Compassion Fatigue Associate 24341803
Diabetes Mellitus Associate 37773841
Esophageal Squamous Cell Carcinoma Associate 37866660
Fabry Disease Associate 24341803