| Type | Description |
|---|---|
| Definition | lipoyltransferase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-11 12:11:00 | LIPT1 mutations impair 2KDH lipoylation and activity. LIPT1 deficiency increases 2-HG and depletes structural lipids in plasma. LIPT1 deficiency impedes lipogenesis but increases fatty acid oxidation. | 31042466 |
| 2014-11-29 10:41:00 | LIPT1 protein is required for lipoylation and activation of 2-ketoacid dehydrogenases in humans. | 24256811 |
| 2014-07-19 11:50:00 | Data report a putative case of impaired free or H protein-derived lipoic acid attachment due to LIPT1 mutations as a cause of PDH and alpha-KGDH deficiencies. | 24341803 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| Type | IDs |
|---|---|
| Synonymous | LIPT1D |
| Gene |
UniProtKB-ID:
LIPT_HUMAN
UniprotKB:
Q9Y234
UniParc:
UPI000003B004
EMBL:
AB017567,
CH471127,
AB017566,
AC092587,
BC009772,
BC007001,
BC070145
Ensembl:
ENSG00000144182
KO:
hsa:51601
|
| Nucleutide sequences |
EMBL-CDS:
AAX88927.1,
AAH09772.1,
BAA76368.1,
EAX01877.1,
BAA76367.1,
AAH70145.1,
AAH07001.1
Ensembl_TRS:
ENST00000651691,
ENST00000393471,
ENST00000393473
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000498546,
ENSP00000377115,
ENSP00000377114
RefSeq:
NP_660198.1,
NP_057013.1,
NP_001191759.1,
NP_660199.1,
NP_660200.1
|
| Others |
UniRef100:
UniRef100_Q9Y234
UniRef90:
UniRef90_Q9Y234
UniRef50:
UniRef50_Q9Y234
UniGene:
Hs.719172,
Hs.739177
CCDS:
CCDS2039.1
|
| {{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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