| Type | Description |
|---|---|
| Definition | lipoic acid synthetase |
| Date | Results | Publications |
|---|---|---|
| 2017-12-09 12:36:00 | this study used a bioinformatics approach to predict its structure. . A homology model for LIAS protein was generated using X-ray crystallographic structure of Thermosynechococcus elogatsu. The active site of LIAS protein was mapped and docked with S-Adenosyl Methionine | 27717843 |
| 2017-07-01 10:28:00 | oxoglutarate dehydrogenase (OGDH) and lipoic acid synthase (LIAS), which when mutated stabilize HIF1alpha in a non-hydroxylated form. | 27923773 |
| 2016-10-01 11:40:00 | heterozygous mutations (c.738-2A>G and c.929T>C (p.Met310Thr)) in LIAS. | 26108146 |
| 2014-04-12 11:27:00 | Patients with LIAS nonketotic hyperglycinemia varied in disease severity and cortical involvement. | 24334290 |
| 2012-02-04 11:33:00 | We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine | 22152680 |
| Type | IDs |
|---|---|
| Synonymous | HGCLAS, HUSSY-01, LAS, LIP1, LS, PDHLD |
| Gene |
UniProtKB-ID:
LIAS_HUMAN,
A0A024R9W0_HUMAN,
B4E0L7_HUMAN,
Q6P5Q6_HUMAN
UniprotKB:
O43766,
A0A024R9W0,
B4E0L7,
Q6P5Q6
UniParc:
UPI000004EE9F,
UPI000020AFDC,
UPI000020AFDE,
UPI0000225653,
UPI00001D69FE
EMBL:
BC023635,
AK303429,
AK291985,
AK292238,
AC021148,
BC062751,
CH471069,
AJ224162
Ensembl:
ENSG00000121897
KO:
hsa:11019
|
| Nucleutide sequences |
EMBL-CDS:
CAA11859.1,
EAW92932.1,
AAH23635.1,
BAF84927.1,
EAW92934.1,
BAG64479.1,
BAF84674.1,
AAH62751.1
Gene_ORFName:
HUSSY-01,
hCG_38555
Ensembl_TRS:
ENST00000640888,
ENST00000381846,
ENST00000340169,
ENST00000509519,
ENST00000424936
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000492260,
ENSP00000340676,
ENSP00000371270,
ENSP00000492833,
ENSP00000491086
RefSeq:
NP_919433.1,
NP_001265520.1,
NP_006850.2,
NP_001350629.1,
NP_001265521.1,
NP_001265519.1
|
| Others |
UniRef100:
UniRef100_O43766,
UniRef100_A0A1X7SBR7,
UniRef100_Q6P5Q6
UniRef90:
UniRef90_A0A2K6F4A0,
UniRef90_O43766,
UniRef90_A0A1X7SBR7
UniRef50:
UniRef50_A0A2K6F4A0,
UniRef50_O43766,
UniRef50_O43766-3
UniGene:
Hs.550502
CCDS:
CCDS3454.1,
CCDS63950.1,
CCDS3453.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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