• Gene id: 51601

Gene Summary

• Gene Symbol: LIPT1   Gene   UCSC   Ensembl
• Aliases: LIPT1D
• Gene name: lipoyltransferase 1
• Alternate names: lipoyltransferase 1, mitochondrial, lipoate biosynthesis protein, lipoyl ligase,
• Gene location: 2q11.2 (99154966: 99163156)     Exons: 7     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 610284

Protein Summary

• Protein general information: Q9Y234  
  • Name: Lipoyltransferase 1, mitochondrial (EC 2.3.1. ) (Lipoate biosynthesis protein) (Lipoate protein ligase) (Lipoyl ligase)
  • Length: 373  
  • Mass: 42479
  • 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
• Sequence:

  MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPSVVIG
  RHQNPWQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATK
  RFDLLLDGQFKISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCE
  VLMNAVATEYAAYHQIDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFI
  DIKNGRIEICNIEAPDHWLPLEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM

• Structural information:
  • Protein Domains: (57..24-)
    (/note="BPL/LPL-catalytic)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01067"-)
  • Interpro: IPR004143  IPR004562  
  • Prosite: PS51733
  • STRING: ENSP00000377115
• Other Databases: GeneCards:  LIPT1  Malacards:  LIPT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0006464	cellular protein modification process	IEA	biological process
GO:0009249	protein lipoylation	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006464	cellular protein modification process	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0016746	transferase activity, transferring acyl groups	TAS	molecular function
GO:0034641	cellular nitrogen compound metabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00785	Lipoic acid metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)