Property Summary

NCBI Gene PubMed Count 12
Grant Count 5
R01 Count 5
Funding $471,610.99
PubMed Score 9.18
PubTator Score 4.51

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (3)

Expression

  Differential Expression (1)

Disease log2 FC p
ovarian cancer -1.100 0.000

Synonym

Accession Q9Y234 Q4ZFZ1
Symbols LIPT1D

Gene

PANTHER Protein Class (1)

Gene RIF (3)

PMID Text
24341803 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.
24256811 LIPT1 protein is required for lipoylation and activation of 2-ketoacid dehydrogenases in humans.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSP      1 - 70
SVVIGRHQNPWQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAV     71 - 140
QPQLDVQATKRFDLLLDGQFKISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPS    141 - 210
LVKNLLEKDPTLTCEVLMNAVATEYAAYHQIDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFS    211 - 280
INTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLPLEIRDKLNSSLIGSKFCPTETTMLTNILLR    281 - 350
TCPQDHKLNSKWNILCEKIKGIM                                                   351 - 373
//

Text Mined References (13)

PMID Year Title
24341803 2013 Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
24256811 2014 Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
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