• Gene id: 11019

Gene Summary

• Gene Symbol: LIAS   Gene   UCSC   Ensembl
• Aliases: HGCLAS, HUSSY-01, LAS, LIP1, LS, PDHLD
• Gene name: lipoic acid synthetase
• Alternate names: lipoyl synthase, mitochondrial, lip-syn, lipoate synthase,
• Gene location: 4p14 (91947701: 91869410)     Exons: 14     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate bios
• OMIM: 607031

Protein Summary

• Protein general information: O43766  
  • Name: Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoate synthase) (LS) (Lip syn) (Lipoic acid synthase)
  • Length: 372  
  • Mass: 41911
• Sequence:

  MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLR
  LPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTAR
  NPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEK
  VALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREAD
  VDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL

• Structural information:
  • Interpro: IPR013785  IPR006638  IPR031691  IPR003698  IPR007197  
  • STRING: ENSP00000261434
• Other Databases: GeneCards:  LIAS  Malacards:  LIAS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0009107	lipoate biosynthetic process	IBA	biological process
GO:0016992	lipoate synthase activity	IBA	molecular function
GO:0009107	lipoate biosynthetic process	IEA	biological process
GO:0016992	lipoate synthase activity	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0102553	lipoyl synthase activity (acting on pyruvate dehydrogenase E2 protein)	IEA	molecular function
GO:0102552	lipoyl synthase activity (acting on glycine-cleavage complex H protein	IEA	molecular function
GO:0016992	lipoate synthase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0034641	cellular nitrogen compound metabolic process	TAS	biological process
GO:0016992	lipoate synthase activity	IEA	molecular function
GO:0009107	lipoate biosynthetic process	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0001843	neural tube closure	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0016783	sulfurtransferase activity	IEA	molecular function
GO:0016992	lipoate synthase activity	IEA	molecular function
GO:0009107	lipoate biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0009249	protein lipoylation	IEA	biological process
GO:0032496	response to lipopolysaccharide	ISS	biological process
GO:0006954	inflammatory response	ISS	biological process
GO:0009107	lipoate biosynthetic process	ISS	biological process
GO:0006979	response to oxidative stress	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0016992	lipoate synthase activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00785	Lipoic acid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R