LIPT1
entrez
51601
canonical
uniprot
Q9Y234
canonical
ensembl
ENSG00000144182
resolver
ensp
ENSP00000377114
resolver
ensp
ENSP00000377115
resolver
ensp
ENSP00000498546
resolver
ensp
ENSP00000579245
resolver
ensp
ENSP00000579246
resolver
ensp
ENSP00000579247
resolver
ensp
ENSP00000579248
resolver
ensp
ENSP00000579249
resolver
ensp
ENSP00000579250
resolver
ensp
ENSP00000579251
resolver
ensp
ENSP00000579252
resolver
ensp
ENSP00000579253
resolver
ensp
ENSP00000579254
resolver
ensp
ENSP00000579255
resolver
ensp
ENSP00000579256
resolver
ensp
ENSP00000579257
resolver
ensp
ENSP00000579258
resolver
ensp
ENSP00000594078
resolver
ensp
ENSP00000594079
resolver
ensp
ENSP00000594080
resolver
ensp
ENSP00000594081
resolver
ensp
ENSP00000594082
resolver
ensp
ENSP00000594083
resolver
ensp
ENSP00000594084
resolver
ensp
ENSP00000612033
resolver
enst
ENST00000393471
resolver
enst
ENST00000393473
resolver
enst
ENST00000651691
resolver
enst
ENST00000909186
resolver
enst
ENST00000909187
resolver
enst
ENST00000909188
resolver
enst
ENST00000909189
resolver
enst
ENST00000909190
resolver
enst
ENST00000909191
resolver
enst
ENST00000909192
resolver
enst
ENST00000909193
resolver
enst
ENST00000909194
resolver
enst
ENST00000909195
resolver
enst
ENST00000909196
resolver
enst
ENST00000909197
resolver
enst
ENST00000909198
resolver
enst
ENST00000909199
resolver
enst
ENST00000924019
resolver
enst
ENST00000924020
resolver
enst
ENST00000924021
resolver
enst
ENST00000924022
resolver
enst
ENST00000924023
resolver
enst
ENST00000924024
resolver
enst
ENST00000924025
resolver
enst
ENST00000941974
resolver
genesymbol
LIPT1
resolver
hgnc
HGNC:29569
resolver
uniprot
Q4ZFZ1
resolver
uniprot_entry
LIPT_HUMAN
resolver
uniprot_sec
Q4ZFZ1
resolver
amino_acid_sequence
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPSVVIGRHQNPWQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQFKISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQIDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLPLEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM
uniprot
proteins
disease_involvement
DISEASE: Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299]: An autosomal recessive disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension. {ECO:0000269|PubMed:24256811, ECO:0000269|PubMed:24341803, ECO:0000269|PubMed:29681092}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.-
uniprot
proteins
ec_number
2.3.1.200
uniprot
proteins
function
FUNCTION: Lipoyl amidotransferase that catalyzes the transfer of lipoyl moieties from lipoyl-protein H of the glycine cleavage system (lipoyl-GCSH) to E2 subunits of the pyruvate dehydrogenase complex (PDCE2) (PubMed:29987032). Unable to catalyze the transfer of octanoyl from octanoyl-GCSH to PDCE2 (PubMed:29987032). In vitro, it is also able to catalyze the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes but this reaction may not be physiologically relevant (Probable). {ECO:0000269|PubMed:29987032, ECO:0000305|PubMed:29987032}.
uniprot
proteins
mass_dalton
42479
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein lipoylation via exogenous pathway; protein N(6)-(lipoyl)lysine from lipoate: step 2/2.
uniprot
proteins
protein_family
LplA family
uniprot
proteins
pubmed
10103005
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
24256811
uniprot
proteins
pubmed
24341803
uniprot
proteins
pubmed
29681092
uniprot
proteins
pubmed
29987032
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:O46419}.
uniprot
proteins