LIPT1

Protein identityUniProt · HPA

UniProt accession

Q9Y234

Gene

LIPT1

Ensembl

ENSG00000144182

Chromosome

2

Canonical length

373 aa

Protein class

Disease related genes, Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]

Canonical amino-acid sequenceUniProt

373 residues, UniProt reviewed canonical sequence.

>Q9Y234|LIPT1
     1  MLIPFSMKNC FQLLCNCQVP AAGFKKTVKN GLILQSISND VYQNLAVEDW IHDHMNLEGK
    61  PILFFWQNSP SVVIGRHQNP WQECNLNLMR EEGIKLARRR SGGGTVYHDM GNINLTFFTT
   121  KKKYDRMENL KLIVRALNAV QPQLDVQATK RFDLLLDGQF KISGTASKIG RTTAYHHCTL
   181  LCSTDGTFLS SLLKSPYQGI RSNATASIPS LVKNLLEKDP TLTCEVLMNA VATEYAAYHQ
   241  IDNHIHLINP TDETLFPGIN SKAKELQTWE WIYGKTPKFS INTSFHVLYE QSHLEIKVFI
   301  DIKNGRIEIC NIEAPDHWLP LEIRDKLNSS LIGSKFCPTE TTMLTNILLR TCPQDHKLNS
   361  KWNILCEKIK GIM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LIPT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LIPT1.

Disease | AllUniProt

Conditions LIPT1 is implicated in, by any mechanism.

• Lipoyltransferase 1 deficiency (LIPT1D) MIM:616299

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 140 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Lipoyl transferase 1 deficiency
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.71

gnomAD pLI

0

gnomAD missense Z

0.34

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• lipid metabolic process
• protein lipoylation
• protein modification process

Molecular functions

• N-acyltransferase activity
• lipoyltransferase activity

Cellular components

• cytoplasm
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain
• Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
• Lipoyl protein ligase A/B catalytic domain
• Lipoyltransferase/lipoate-protein ligase

KeywordsUniProt

• Acyltransferase
• Mitochondrion
• Transferase
• Transit peptide