Gene/Proteome Database (LMPD)

LMPD ID
LMP002266
Gene ID
11019
Species
Homo sapiens (Human)
Gene Name
lipoic acid synthetase
Gene Symbol
LIAS
Synonyms
LAS; LIP1; LS; PDHLD
Chromosome
4
Map Location
4p14
EC Number
2.8.1.8
Summary
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 biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for LIAS

Proteins

lipoyl synthase, mitochondrial isoform 1 precursor
Refseq ID NP_006850
Protein GI 37577166
UniProt ID O43766
mRNA ID NM_006859
Length 372
RefSeq Status REVIEWED
MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL
lipoyl synthase, mitochondrial isoform 2 precursor
Refseq ID NP_919433
Protein GI 37577164
UniProt ID O43766
mRNA ID NM_194451
Length 322
RefSeq Status REVIEWED
MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVNFS
transit_peptide: 1..27 calculated_mol_wt: 3014 peptide sequence: MSLRCGDAARTLGPRVFGRYFCSPVRP mat_peptide: 28..329 product: lipoyl synthase, mitochondrial isoform 3 calculated_mol_wt: 34141 peptide sequence: LSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKESKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL transit_peptide: 1..27 experiment: experimental evidence, no additional details recorded note: Mitochondrion. {ECO:0000255|HAMAP-Rule:MF_03123}; propagated from UniProtKB/Swiss-Prot (O43766.3) calculated_mol_wt: 3014 peptide sequence: MSLRCGDAARTLGPRVFGRYFCSPVRP mat_peptide: 28..142 product: lipoyl synthase, mitochondrial isoform 4 calculated_mol_wt: 12806 peptide sequence: LSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMVGPASTSMALV transit_peptide: 1..27 calculated_mol_wt: 3014 peptide sequence: MSLRCGDAARTLGPRVFGRYFCSPVRP mat_peptide: 28..100 product: lipoyl synthase, mitochondrial isoform 5 calculated_mol_wt: 8395 peptide sequence: LSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERYVRKLDVPILESVGEVENMPPPQPRSW transit_peptide: 1..27 experiment: experimental evidence, no additional details recorded note: Mitochondrion. {ECO:0000255|HAMAP-Rule:MF_03123}; propagated from UniProtKB/Swiss-Prot (O43766.3) calculated_mol_wt: 3014 peptide sequence: MSLRCGDAARTLGPRVFGRYFCSPVRP mat_peptide: 28..372 product: Lipoyl synthase, mitochondrial experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (O43766.3) calculated_mol_wt: 38916 peptide sequence: LSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL transit_peptide: 1..27 experiment: experimental evidence, no additional details recorded note: Mitochondrion. {ECO:0000255|HAMAP-Rule:MF_03123}; propagated from UniProtKB/Swiss-Prot (O43766.3) calculated_mol_wt: 3014 peptide sequence: MSLRCGDAARTLGPRVFGRYFCSPVRP mat_peptide: 28..322 product: lipoyl synthase, mitochondrial isoform 2 calculated_mol_wt: 33067 peptide sequence: LSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVNFS
lipoyl synthase, mitochondrial isoform 3 precursor
Refseq ID NP_001265519
Protein GI 515869651
UniProt ID O43766
mRNA ID NM_001278590
Length 329
RefSeq Status REVIEWED
MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKESKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL
lipoyl synthase, mitochondrial isoform 4 precursor
Refseq ID NP_001265520
Protein GI 515869683
UniProt ID Q6P5Q6
mRNA ID NM_001278591
Length 142
RefSeq Status REVIEWED
MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMVGPASTSMALV
lipoyl synthase, mitochondrial isoform 5 precursor
Refseq ID NP_001265521
Protein GI 515869855
UniProt ID O43766
mRNA ID NM_001278592
Length 100
RefSeq Status REVIEWED
MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERYVRKLDVPILESVGEVENMPPPQPRSW

Gene Information

Entrez Gene ID
11019
Gene Name
lipoic acid synthetase
Gene Symbol
LIAS
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005739 ISS:UniProtKB C mitochondrion
GO:0051539 IEA:UniProtKB-HAMAP F 4 iron, 4 sulfur cluster binding
GO:0016992 ISS:UniProtKB F lipoate synthase activity
GO:0046872 IEA:UniProtKB-KW F metal ion binding
GO:0006954 ISS:UniProtKB P inflammatory response
GO:0009107 ISS:UniProtKB P lipoate biosynthetic process
GO:0001843 IEA:Ensembl P neural tube closure
GO:0009249 IEA:UniProtKB-HAMAP P protein lipoylation
GO:0032496 ISS:UniProtKB P response to lipopolysaccharide
GO:0006979 ISS:UniProtKB P response to oxidative stress

KEGG Pathway Links

KEGG Pathway ID Description
hsa00785 Lipoic acid metabolism
ko00785 Lipoic acid metabolism
hsa01100 Metabolic pathways

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY0-1275 lipoate biosynthesis and incorporation II

Domain Information

InterPro Annotations

Accession Description
IPR013785 Aldolase-type TIM barrel
IPR006638 Elongator protein 3/MiaB/NifB
IPR003698 Lipoyl synthase
IPR007197 Radical SAM

UniProt Annotations

Entry Information

Gene Name
lipoic acid synthetase
Protein Entry
LIAS_HUMAN
UniProt ID
Q6P5Q6
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O43766-1; Sequence=Displayed; Name=2; IsoId=O43766-2; Sequence=VSP_047380, VSP_047381; Note=Gene prediction based on EST data.; Name=3; IsoId=O43766-3; Sequence=VSP_054764; Note=No experimental confirmation available. Gene prediction based on EST data.;
Catalytic Activity Protein N(6)-(octanoyl)lysine + 2 sulfur- (sulfur carrier) + 2 S-adenosyl-L-methionine = protein N(6)- (lipoyl)lysine + 2 (sulfur carrier) + 2 L-methionine + 2 5'- deoxyadenosine.
Cofactor Name=[4Fe-4S] cluster; Xref=ChEBI
Disease Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) [MIM
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.
Pathway Protein modification; protein lipoylation via endogenous pathway; protein N(6)-(lipoyl)lysine from octanoyl-[acyl-carrier- protein]: step 2/2.
Similarity Belongs to the radical SAM superfamily. Lipoyl synthase family.
Subcellular Location Mitochondrion {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP002266 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
37577166 RefSeq NP_006850 372 lipoyl synthase, mitochondrial isoform 1 precursor
37577164 RefSeq NP_919433 322 lipoyl synthase, mitochondrial isoform 2 precursor
515869651 RefSeq NP_001265519 329 lipoyl synthase, mitochondrial isoform 3 precursor
515869683 RefSeq NP_001265520 142 lipoyl synthase, mitochondrial isoform 4 precursor
515869855 RefSeq NP_001265521 100 lipoyl synthase, mitochondrial isoform 5 precursor

Identical Sequences to LMP002266 proteins

Reference Database Accession Length Protein Name
GI:515869683 DBBJ BAF84674.1 142 unnamed protein product [Homo sapiens]
GI:37577166 DBBJ BAF84927.1 372 unnamed protein product [Homo sapiens]
GI:515869855 DBBJ BAG64479.1 100 unnamed protein product [Homo sapiens]
GI:37577166 EMBL CBN72404.1 372 unnamed protein product [Homo sapiens]
GI:37577164 EMBL CBN72413.1 322 unnamed protein product [Homo sapiens]
GI:515869683 GenBank AAH62751.1 142 LIAS protein [Homo sapiens]
GI:37577164 GenBank EAW92933.1 322 lipoic acid synthetase, isoform CRA_b [Homo sapiens]
GI:37577166 GenBank EAW92934.1 372 lipoic acid synthetase, isoform CRA_a [Homo sapiens]
GI:37577166 GenBank AHE01255.1 372 Sequence 56171 from patent US 8586006
GI:37577164 GenBank AHE01256.1 322 Sequence 56172 from patent US 8586006
GI:515869683 GenBank AIC59710.1 142 LIAS, partial [synthetic construct]
GI:37577166 RefSeq XP_004038613.1 372 PREDICTED: lipoyl synthase, mitochondrial isoform 1 [Gorilla gorilla gorilla]
GI:37577164 RefSeq XP_004038614.1 322 PREDICTED: lipoyl synthase, mitochondrial isoform 2 [Gorilla gorilla gorilla]
GI:37577166 SwissProt O43766.3 372 RecName: Full=Lipoyl synthase, mitochondrial; AltName: Full=Lipoate synthase; Short=LS; Short=Lip-syn; AltName: Full=Lipoic acid synthase; Flags: Precursor [Homo sapiens]

Related Sequences to LMP002266 proteins

Reference Database Accession Length Protein Name
GI:515869683 EMBL CAF17161.1 142 unnamed protein product, partial [Homo sapiens]
GI:515869651 EMBL CBN72404.1 372 unnamed protein product [Homo sapiens]
GI:37577164 EMBL CBN72404.1 372 unnamed protein product [Homo sapiens]
GI:515869683 EMBL CBN72404.1 372 unnamed protein product [Homo sapiens]
GI:37577166 EMBL CBN72487.1 372 unnamed protein product [Homo sapiens]
GI:37577166 GenBank AAH23635.1 372 Lipoic acid synthetase [Homo sapiens]
GI:515869683 GenBank AAR74171.1 142 Sequence 6716 from patent US 6639063
GI:515869683 GenBank EAW92932.1 372 lipoic acid synthetase, isoform CRA_a [Homo sapiens]
GI:515869651 GenBank EAW92932.1 372 lipoic acid synthetase, isoform CRA_a [Homo sapiens]
GI:515869651 GenBank EAW92934.1 372 lipoic acid synthetase, isoform CRA_a [Homo sapiens]
GI:515869683 GenBank EAW92934.1 372 lipoic acid synthetase, isoform CRA_a [Homo sapiens]
GI:515869683 GenBank ACJ90295.1 142 Sequence 6716 from patent US 7413875
GI:37577166 GenBank JAA01138.1 372 lipoic acid synthetase [Pan troglodytes]
GI:37577166 GenBank JAA12977.1 372 lipoic acid synthetase [Pan troglodytes]
GI:37577166 GenBank JAA12978.1 372 lipoic acid synthetase [Pan troglodytes]
GI:37577164 GenBank AHE01255.1 372 Sequence 56171 from patent US 8586006
GI:37577166 GenBank AIC55896.1 372 LIAS, partial [synthetic construct]
GI:37577164 RefSeq NP_006850.2 372 lipoyl synthase, mitochondrial isoform 1 precursor [Homo sapiens]
GI:515869651 RefSeq NP_006850.2 372 lipoyl synthase, mitochondrial isoform 1 precursor [Homo sapiens]
GI:37577164 RefSeq XP_001141481.1 322 PREDICTED: lipoyl synthase, mitochondrial isoform X2 [Pan troglodytes]
GI:37577164 RefSeq XP_002814729.1 322 PREDICTED: lipoyl synthase, mitochondrial isoform X3 [Pongo abelii]
GI:515869651 RefSeq XP_004038613.1 372 PREDICTED: lipoyl synthase, mitochondrial isoform 1 [Gorilla gorilla gorilla]
GI:37577164 RefSeq XP_004038613.1 372 PREDICTED: lipoyl synthase, mitochondrial isoform 1 [Gorilla gorilla gorilla]
GI:515869651 RefSeq XP_005554758.1 329 PREDICTED: lipoyl synthase, mitochondrial isoform X2 [Macaca fascicularis]
GI:515869855 RefSeq XP_006714053.1 226 PREDICTED: lipoyl synthase, mitochondrial isoform X1 [Homo sapiens]
GI:515869855 RefSeq XP_008015805.1 100 PREDICTED: lipoyl synthase, mitochondrial isoform X2 [Chlorocebus sabaeus]
GI:515869855 RefSeq XP_008955819.1 100 PREDICTED: lipoyl synthase, mitochondrial isoform X2 [Pan paniscus]
GI:515869855 RefSeq XP_009238160.1 100 PREDICTED: lipoyl synthase, mitochondrial isoform X4 [Pongo abelii]
GI:515869855 RefSeq XP_009445795.1 100 PREDICTED: lipoyl synthase, mitochondrial isoform X3 [Pan troglodytes]
GI:515869855 RefSeq XP_010382790.1 100 PREDICTED: lipoyl synthase, mitochondrial isoform X2 [Rhinopithecus roxellana]