LIAS
entrez
11019
canonical
uniprot
O43766
canonical
ensembl
ENSG00000121897
resolver
ensp
ENSP00000261434
resolver
ensp
ENSP00000340676
resolver
ensp
ENSP00000371270
resolver
ensp
ENSP00000491086
resolver
ensp
ENSP00000492260
resolver
ensp
ENSP00000492833
resolver
enst
ENST00000261434
resolver
enst
ENST00000424936
resolver
enst
ENST00000509519
resolver
genesymbol
LIAS
resolver
genesymbol_syn
LAS
resolver
hgnc
HGNC:16429
resolver
uniprot
A0A1W2PPD0
resolver
uniprot
A0A1W2PSE2
resolver
uniprot
A0A1X7SBR7
resolver
uniprot
A8K873
resolver
uniprot
B4E0L7
resolver
uniprot
C9JCF6
resolver
uniprot
Q6P5Q6
resolver
uniprot
Q8IV62
resolver
uniprot_entry
A0A1W2PPD0_HUMAN
resolver
uniprot_entry
A0A1W2PSE2_HUMAN
resolver
uniprot_entry
A0A1X7SBR7_HUMAN
resolver
uniprot_entry
B4E0L7_HUMAN
resolver
uniprot_entry
LIAS_HUMAN
resolver
uniprot_entry
Q6P5Q6_HUMAN
resolver
uniprot_sec
A8K873
resolver
uniprot_sec
C9JCF6
resolver
uniprot_sec
Q8IV62
resolver
amino_acid_sequence
MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL
uniprot
proteins
disease_involvement
DISEASE: Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) [MIM:614462]: An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. {ECO:0000269|PubMed:22152680}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.8.1.8
uniprot
proteins
function
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. {ECO:0000255|HAMAP-Rule:MF_03123}.
uniprot
proteins
mass_dalton
41911
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein lipoylation via endogenous pathway; protein N(6)-(lipoyl)lysine from octanoyl-[acyl-carrier-protein]: step 2/2. {ECO:0000255|HAMAP-Rule:MF_03123}.
uniprot
proteins
protein_family
Lipoyl synthase family
uniprot
proteins
protein_family
Radical SAM superfamily
uniprot
proteins
pubmed
11124703
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
22152680
uniprot
proteins
sequence_length
372
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03123}.
uniprot
proteins