Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11019
Gene name	Lipoic acid synthetase
Gene symbol	LIAS
Synonyms (NCBI Gene)	HGCLASHUSSY-01LASLIP1LSPDHLD
Chromosome	4
Chromosome location	4p14
Summary	The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. T

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SNP ID	Visualize variation	Clinical significance	Consequence
rs146030265	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs546751789	G>A	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs796052703	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312808	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs869320760	GAG>AAA	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs961150638	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs965952835	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1057524792	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs1064793165	T>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs1553934199	A>-	Pathogenic	Coding sequence variant, frameshift variant

304

Show/Hide all (304)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028840	hsa-miR-26b-5p	Microarray	19088304
MIRT664803	hsa-miR-3609	HITS-CLIP	22927820
MIRT664802	hsa-miR-548ah-5p	HITS-CLIP	22927820
MIRT664801	hsa-miR-106a-5p	HITS-CLIP	22927820
MIRT664800	hsa-miR-106b-5p	HITS-CLIP	22927820
MIRT664799	hsa-miR-17-5p	HITS-CLIP	22927820
MIRT664798	hsa-miR-20a-5p	HITS-CLIP	22927820
MIRT664797	hsa-miR-20b-5p	HITS-CLIP	22927820
MIRT664796	hsa-miR-519d-3p	HITS-CLIP	22927820
MIRT664795	hsa-miR-526b-3p	HITS-CLIP	22927820
MIRT664794	hsa-miR-93-5p	HITS-CLIP	22927820
MIRT664793	hsa-miR-4796-3p	HITS-CLIP	22927820
MIRT706449	hsa-miR-302a-3p	HITS-CLIP	22927820
MIRT706448	hsa-miR-302b-3p	HITS-CLIP	22927820
MIRT706447	hsa-miR-302c-3p	HITS-CLIP	22927820
MIRT706446	hsa-miR-302d-3p	HITS-CLIP	22927820
MIRT706445	hsa-miR-302e	HITS-CLIP	22927820
MIRT706444	hsa-miR-372-3p	HITS-CLIP	22927820
MIRT706443	hsa-miR-373-3p	HITS-CLIP	22927820
MIRT706442	hsa-miR-520a-3p	HITS-CLIP	22927820
MIRT706441	hsa-miR-520b	HITS-CLIP	22927820
MIRT706440	hsa-miR-520c-3p	HITS-CLIP	22927820
MIRT706439	hsa-miR-520d-3p	HITS-CLIP	22927820
MIRT706438	hsa-miR-520e	HITS-CLIP	22927820
MIRT706437	hsa-miR-512-3p	HITS-CLIP	22927820
MIRT664792	hsa-miR-125a-3p	HITS-CLIP	22927820
MIRT664791	hsa-miR-764	HITS-CLIP	22927820
MIRT664790	hsa-miR-3934-5p	HITS-CLIP	22927820
MIRT664788	hsa-miR-5009-3p	HITS-CLIP	22927820
MIRT664789	hsa-miR-212-5p	HITS-CLIP	22927820
MIRT706436	hsa-miR-3653-5p	HITS-CLIP	22927820
MIRT706435	hsa-miR-619-5p	HITS-CLIP	22927820
MIRT706434	hsa-miR-6506-5p	HITS-CLIP	22927820
MIRT706433	hsa-miR-6790-3p	HITS-CLIP	22927820
MIRT706432	hsa-miR-6821-3p	HITS-CLIP	22927820
MIRT664787	hsa-miR-6791-3p	HITS-CLIP	22927820
MIRT664786	hsa-miR-6829-3p	HITS-CLIP	22927820
MIRT706431	hsa-miR-4731-5p	HITS-CLIP	22927820
MIRT706430	hsa-miR-5589-5p	HITS-CLIP	22927820
MIRT664784	hsa-miR-4757-5p	HITS-CLIP	22927820
MIRT664785	hsa-miR-6744-3p	HITS-CLIP	22927820
MIRT706429	hsa-miR-378a-5p	HITS-CLIP	22927820
MIRT664783	hsa-miR-640	HITS-CLIP	22927820
MIRT664782	hsa-miR-6878-3p	HITS-CLIP	22927820
MIRT664803	hsa-miR-3609	HITS-CLIP	23824327
MIRT664802	hsa-miR-548ah-5p	HITS-CLIP	23824327
MIRT664801	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT664800	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT664799	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT664798	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT664797	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT664796	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT664795	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT664794	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT664793	hsa-miR-4796-3p	HITS-CLIP	23824327
MIRT664792	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT664791	hsa-miR-764	HITS-CLIP	23824327
MIRT664790	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT664788	hsa-miR-5009-3p	HITS-CLIP	23824327
MIRT664789	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT664787	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT664786	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT664784	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT664785	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT664783	hsa-miR-640	HITS-CLIP	23824327
MIRT664782	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT664781	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664780	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT664779	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT664778	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT664777	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT664776	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT664775	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT664774	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT664773	hsa-miR-4284	HITS-CLIP	23824327
MIRT664772	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT664771	hsa-miR-8057	HITS-CLIP	23824327
MIRT664803	hsa-miR-3609	HITS-CLIP	22927820
MIRT664802	hsa-miR-548ah-5p	HITS-CLIP	22927820
MIRT664801	hsa-miR-106a-5p	HITS-CLIP	22927820
MIRT664800	hsa-miR-106b-5p	HITS-CLIP	22927820
MIRT664799	hsa-miR-17-5p	HITS-CLIP	22927820
MIRT664798	hsa-miR-20a-5p	HITS-CLIP	22927820
MIRT664797	hsa-miR-20b-5p	HITS-CLIP	22927820
MIRT664796	hsa-miR-519d-3p	HITS-CLIP	22927820
MIRT664795	hsa-miR-526b-3p	HITS-CLIP	22927820
MIRT664794	hsa-miR-93-5p	HITS-CLIP	22927820
MIRT664793	hsa-miR-4796-3p	HITS-CLIP	22927820
MIRT706449	hsa-miR-302a-3p	HITS-CLIP	22927820
MIRT706448	hsa-miR-302b-3p	HITS-CLIP	22927820
MIRT706447	hsa-miR-302c-3p	HITS-CLIP	22927820
MIRT706446	hsa-miR-302d-3p	HITS-CLIP	22927820
MIRT706445	hsa-miR-302e	HITS-CLIP	22927820
MIRT706444	hsa-miR-372-3p	HITS-CLIP	22927820
MIRT706443	hsa-miR-373-3p	HITS-CLIP	22927820
MIRT706442	hsa-miR-520a-3p	HITS-CLIP	22927820
MIRT706441	hsa-miR-520b	HITS-CLIP	22927820
MIRT706440	hsa-miR-520c-3p	HITS-CLIP	22927820
MIRT706439	hsa-miR-520d-3p	HITS-CLIP	22927820
MIRT706438	hsa-miR-520e	HITS-CLIP	22927820
MIRT706437	hsa-miR-512-3p	HITS-CLIP	22927820
MIRT664792	hsa-miR-125a-3p	HITS-CLIP	22927820
MIRT664791	hsa-miR-764	HITS-CLIP	22927820
MIRT664790	hsa-miR-3934-5p	HITS-CLIP	22927820
MIRT664788	hsa-miR-5009-3p	HITS-CLIP	22927820
MIRT664789	hsa-miR-212-5p	HITS-CLIP	22927820
MIRT706436	hsa-miR-3653-5p	HITS-CLIP	22927820
MIRT706435	hsa-miR-619-5p	HITS-CLIP	22927820
MIRT706434	hsa-miR-6506-5p	HITS-CLIP	22927820
MIRT706433	hsa-miR-6790-3p	HITS-CLIP	22927820
MIRT706432	hsa-miR-6821-3p	HITS-CLIP	22927820
MIRT664787	hsa-miR-6791-3p	HITS-CLIP	22927820
MIRT664786	hsa-miR-6829-3p	HITS-CLIP	22927820
MIRT706431	hsa-miR-4731-5p	HITS-CLIP	22927820
MIRT706430	hsa-miR-5589-5p	HITS-CLIP	22927820
MIRT664784	hsa-miR-4757-5p	HITS-CLIP	22927820
MIRT664785	hsa-miR-6744-3p	HITS-CLIP	22927820
MIRT706429	hsa-miR-378a-5p	HITS-CLIP	22927820
MIRT664783	hsa-miR-640	HITS-CLIP	22927820
MIRT664782	hsa-miR-6878-3p	HITS-CLIP	22927820
MIRT664803	hsa-miR-3609	HITS-CLIP	23824327
MIRT664802	hsa-miR-548ah-5p	HITS-CLIP	23824327
MIRT664801	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT664800	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT664799	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT664798	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT664797	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT664796	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT664795	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT664794	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT664793	hsa-miR-4796-3p	HITS-CLIP	23824327
MIRT664792	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT664791	hsa-miR-764	HITS-CLIP	23824327
MIRT664790	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT664788	hsa-miR-5009-3p	HITS-CLIP	23824327
MIRT664789	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT664787	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT664786	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT664784	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT664785	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT664783	hsa-miR-640	HITS-CLIP	23824327
MIRT664782	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT664781	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664780	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT664779	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT664778	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT664777	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT664776	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT664775	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT664774	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT664773	hsa-miR-4284	HITS-CLIP	23824327
MIRT664772	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT664771	hsa-miR-8057	HITS-CLIP	23824327
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT1109073	hsa-miR-197	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT1109076	hsa-miR-3167	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT1109079	hsa-miR-3934	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT1109083	hsa-miR-4716-5p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT1109085	hsa-miR-4781-3p	CLIP-seq
MIRT1109086	hsa-miR-5096	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT1109089	hsa-miR-876-5p	CLIP-seq
MIRT2030153	hsa-miR-106a	CLIP-seq
MIRT2030154	hsa-miR-106b	CLIP-seq
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT2030155	hsa-miR-17	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT1109073	hsa-miR-197	CLIP-seq
MIRT2030156	hsa-miR-20a	CLIP-seq
MIRT2030157	hsa-miR-20b	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT2030158	hsa-miR-302a	CLIP-seq
MIRT2030159	hsa-miR-302b	CLIP-seq
MIRT2030160	hsa-miR-302c	CLIP-seq
MIRT2030161	hsa-miR-302d	CLIP-seq
MIRT1109076	hsa-miR-3167	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT2030162	hsa-miR-372	CLIP-seq
MIRT2030163	hsa-miR-373	CLIP-seq
MIRT1109079	hsa-miR-3934	CLIP-seq
MIRT2030164	hsa-miR-4269	CLIP-seq
MIRT2030165	hsa-miR-4301	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT2030166	hsa-miR-4438	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT1109083	hsa-miR-4716-5p	CLIP-seq
MIRT2030167	hsa-miR-4740-3p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT1109085	hsa-miR-4781-3p	CLIP-seq
MIRT2030168	hsa-miR-5095	CLIP-seq
MIRT1109086	hsa-miR-5096	CLIP-seq
MIRT2030169	hsa-miR-519d	CLIP-seq
MIRT2030170	hsa-miR-548ah	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT1109089	hsa-miR-876-5p	CLIP-seq
MIRT2030171	hsa-miR-93	CLIP-seq
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT2261034	hsa-miR-1976	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT2261035	hsa-miR-3128	CLIP-seq
MIRT2261036	hsa-miR-3135b	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT2261037	hsa-miR-3616-3p	CLIP-seq
MIRT2261038	hsa-miR-3652	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT2030164	hsa-miR-4269	CLIP-seq
MIRT2261039	hsa-miR-4279	CLIP-seq
MIRT2030165	hsa-miR-4301	CLIP-seq
MIRT2261040	hsa-miR-4430	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT2030166	hsa-miR-4438	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT2261041	hsa-miR-4720-5p	CLIP-seq
MIRT2261042	hsa-miR-4722-3p	CLIP-seq
MIRT2030167	hsa-miR-4740-3p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT2261043	hsa-miR-4799-3p	CLIP-seq
MIRT2030168	hsa-miR-5095	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT2261036	hsa-miR-3135b	CLIP-seq
MIRT2261037	hsa-miR-3616-3p	CLIP-seq
MIRT2261038	hsa-miR-3652	CLIP-seq
MIRT2261040	hsa-miR-4430	CLIP-seq
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT1109073	hsa-miR-197	CLIP-seq
MIRT2561018	hsa-miR-2113	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT1109076	hsa-miR-3167	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT2561019	hsa-miR-3591-5p	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT2561020	hsa-miR-3681	CLIP-seq
MIRT1109079	hsa-miR-3934	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT2561021	hsa-miR-4460	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT1109083	hsa-miR-4716-5p	CLIP-seq
MIRT2561022	hsa-miR-4727-3p	CLIP-seq
MIRT2561023	hsa-miR-4735-5p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT2561024	hsa-miR-4775	CLIP-seq
MIRT1109085	hsa-miR-4781-3p	CLIP-seq
MIRT1109086	hsa-miR-5096	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT2561025	hsa-miR-590-3p	CLIP-seq
MIRT2561026	hsa-miR-599	CLIP-seq
MIRT1109089	hsa-miR-876-5p	CLIP-seq
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT1109073	hsa-miR-197	CLIP-seq
MIRT2261034	hsa-miR-1976	CLIP-seq
MIRT2561018	hsa-miR-2113	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT1109076	hsa-miR-3167	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT2561019	hsa-miR-3591-5p	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT2561020	hsa-miR-3681	CLIP-seq
MIRT1109079	hsa-miR-3934	CLIP-seq
MIRT2261039	hsa-miR-4279	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT2030166	hsa-miR-4438	CLIP-seq
MIRT2561021	hsa-miR-4460	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT2683885	hsa-miR-4477a	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT1109083	hsa-miR-4716-5p	CLIP-seq
MIRT2261042	hsa-miR-4722-3p	CLIP-seq
MIRT2561022	hsa-miR-4727-3p	CLIP-seq
MIRT2561023	hsa-miR-4735-5p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT2561024	hsa-miR-4775	CLIP-seq
MIRT1109085	hsa-miR-4781-3p	CLIP-seq
MIRT2030168	hsa-miR-5095	CLIP-seq
MIRT1109086	hsa-miR-5096	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT2683886	hsa-miR-582-3p	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT2561025	hsa-miR-590-3p	CLIP-seq
MIRT2561026	hsa-miR-599	CLIP-seq
MIRT1109089	hsa-miR-876-5p	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	ISS
GO:0009107	Process	Lipoate biosynthetic process	IBA
GO:0009107	Process	Lipoate biosynthetic process	IEA
GO:0009107	Process	Lipoate biosynthetic process	IEA
GO:0009107	Process	Lipoate biosynthetic process	ISS
GO:0009249	Process	Protein lipoylation	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016783	Function	Sulfurtransferase activity	IEA
GO:0016992	Function	Lipoate synthase activity	IBA
GO:0016992	Function	Lipoate synthase activity	IEA
GO:0016992	Function	Lipoate synthase activity	ISS
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032496	Process	Response to lipopolysaccharide	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA

MIM	HGNC	e!Ensembl
607031	16429	ENSG00000121897

O43766

Protein name

Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoate synthase) (LS) (Lip-syn) (Lipoic acid synthase)

Protein function

Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16881	LIAS_N	4 → 111	N-terminal domain of lipoyl synthase of Radical_SAM family	Family
PF04055	Radical_SAM	131 → 296	Radical SAM superfamily	Domain

Sequence

MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWD
EYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGG
GEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSV
DRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVET
VPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREAD
VDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFL
KNLVAKRKTKDL

Sequence length

372

Interactions

View interactions

	KEGG		Reactome
	Lipoic acid metabolism Metabolic pathways Biosynthesis of cofactors		Glyoxylate metabolism and glycine degradation

367

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lipoic acid synthetase deficiency	Likely pathogenic; Pathogenic	rs764858363, rs997841253, rs760569998, rs2109887859, rs201155530, rs748571616, rs2474990397, rs869320760, rs1744708369, rs779113995, rs758718496, rs2474996811, rs965952835, rs1553934069, rs1553934199 View all (9 more)	RCV001390244 RCV001386030 RCV001954950 RCV002035361 RCV002031886 RCV003084432 RCV002820952 RCV000210221 RCV003643306 RCV003643724 RCV003644071 RCV003644242 RCV002524852 RCV001208252 RCV000650024 RCV000650023 RCV000693572 RCV001195900 RCV001223318 RCV001209580 RCV001206495 RCV001205828 RCV001257439 RCV001257440

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Benign; Likely benign	rs146030265, rs372877643	RCV005892180 RCV005908980
Familial cancer of breast	Benign; Likely benign	rs2125314, rs545788879, rs146030265	RCV005890912 RCV005930385 RCV005892179
Gastric cancer	Benign; Likely benign	rs146030265	RCV005892181
Hepatocellular carcinoma	Benign	rs2125314	RCV005890913
LIAS-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs774040503, rs146030265, rs140921822, rs140846573, rs371053949, rs139360916, rs372877643	RCV003938719 RCV003917714 RCV003970117 RCV004758010 RCV004758037 RCV003947954 RCV003918779
Pancreatic adenocarcinoma	Benign	rs2125314	RCV005890914
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs146030265	RCV005892182
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs146030265	RCV005892183

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Lactic	Associate	22152680
Atrial Fibrillation	Associate	37620966
Brain Diseases	Associate	24334290
Breast Neoplasms	Inhibit	36312586
Carcinoma Pancreatic Ductal	Associate	36826087
Colitis Ulcerative	Associate	37904461
Depressive Disorder Major	Associate	40149491
Diabetes Mellitus	Associate	37773841
Epilepsy Benign Neonatal	Associate	22152680
Esophageal Squamous Cell Carcinoma	Associate	37866660
Heart Injuries	Associate	36988255
Hyperglycinemia Nonketotic	Associate	24334290
Infant Newborn Diseases	Associate	28817111
Inflammatory Bowel Diseases	Associate	40149491
Leigh Disease	Associate	24334290
Multiple Mitochondrial Dysfunctions Syndrome	Associate	31279336
Muscle Hypotonia	Associate	22152680
Neoplasms	Associate	39445568
Periodontitis	Associate	37215133
Stomach Neoplasms	Associate	36479114
Triple Negative Breast Neoplasms	Associate	37259036

LIAS (lipoic acid synthetase)