LIPT1 (lipoyltransferase 1)

2014-11-01  

Identity

HGNC
LOCATION
2q11.2
LOCUSID
ALIAS
LIPT1D

Other Information

Locus ID:

NCBI: 51601
MIM: 610284
HGNC: 29569
Ensembl: ENSG00000144182

Variants:

dbSNP: 51601
ClinVar: 51601
TCGA: ENSG00000144182
COSMIC: LIPT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144182ENST00000393471Q9Y234
ENSG00000144182ENST00000393473Q9Y234
ENSG00000144182ENST00000415142C9J6A9
ENSG00000144182ENST00000434566C9JUU5
ENSG00000144182ENST00000436234C9J7C5
ENSG00000144182ENST00000449211C9JW10
ENSG00000144182ENST00000651691Q9Y234

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Lipoic acid metabolismKEGGko00785
Lipoic acid metabolismKEGGhsa00785
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
243418032013Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.15
242568112014Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.14

Citation

Dessen P

LIPT1 (lipoyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/66121/lipt1