Property Summary

NCBI Gene PubMed Count 12
PubMed Score 9.18
PubTator Score 4.51

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
ovarian cancer 8492 7.97359482499891E-6
Disease Target Count Z-score Confidence
Glycine encephalopathy 28 4.737 2.4
Leigh disease 81 3.094 1.5
Disease Target Count
Lipoyltransferase 1 deficiency 1

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)

  Ortholog (13)

Species Source
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA Inparanoid
S.cerevisiae OMA Inparanoid

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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