LIPT1 (lipoyltransferase 1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51601
Gene name Gene Name - the full gene name approved by the HGNC.
Lipoyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LIPT1
Synonyms (NCBI Gene) Gene synonyms aliases
LIPT1D
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610284 29569 ENSG00000144182
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Lipoyltransferase deficiency lipoyl transferase 1 deficiency rs1468529365, rs786205156, rs767568897, rs863224892, rs137891647 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
leigh syndrome Leigh syndrome N/A N/A ClinVar
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Leigh Syndrome With Leukodystrophy Leigh syndrome with leukodystrophy N/A N/A GenCC
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease 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