LIPT2
Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial
Also known as: LIPT2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A6NK58
- Gene
- LIPT2
- Ensembl
- ENSG00000175536
- Chromosome
- 11
- Canonical length
- 231 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Canonical amino-acid sequenceUniProt
231 residues, UniProt reviewed canonical sequence.
>A6NK58|LIPT2
1 MRQPAVRLVR LGRVPYAELL GLQDRWLRRL QAEPGIEAPS GTEAGALLLC EPAGPVYTAG
61 LRGGLTPEET ARLRALGAEV RVTGRGGLAT FHGPGQLLCH PVLDLRRLGL RLRMHVASLE
121 ACAVRLCELQ GLQDARARPP PYTGVWLDDR KICAIGVRCG RHITSHGLAL NCSTDLTWFE
181 HIVPCGLVGT GVTSLSKELQ RHVTVEEVMP PFLVAFKEIY KCTLISEDSP NLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LIPT2 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)
- 0.25
- Highest tissue expression
- 11 nTPM
Expression across tissuesHPA
Tissue
- testis: 11 nTPM
- skeletal muscle: 7.5 nTPM
- tongue: 6.6 nTPM
- kidney: 4.3 nTPM
- duodenum: 3.5 nTPM
- small intestine: 3.4 nTPM
Single-cell type
- late primary spermatocytes: 80 nCPM
- early spermatids: 61 nCPM
- cardiomyocytes: 51 nCPM
- oocytes: 37 nCPM
- late spermatids: 35 nCPM
- early primary spermatocytes: 29 nCPM
Immune cell
- naive CD4 T-cell: 13 nTPM
- naive CD8 T-cell: 11 nTPM
- memory B-cell: 11 nTPM
- naive B-cell: 11 nTPM
- NK-cell: 8.4 nTPM
- MAIT T-cell: 7.7 nTPM
Brain region
- white matter: 7.8 nTPM
- hypothalamus: 7 nTPM
- medulla oblongata: 6.2 nTPM
- pons: 6 nTPM
- midbrain: 5.1 nTPM
- thalamus: 5.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LIPT2.
Disease | AllUniProt
Conditions LIPT2 is implicated in, by any mechanism.
- Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA) MIM:617668
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 146 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
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)
- 0.94
- gnomAD pLI
- 0.63
- gnomAD missense Z
- -0.12
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- ligase activity
- lipoyl(octanoyl) transferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LIPT2 as an antibody target. Whether an autoantibody or antibody against LIPT2 could matter depends on whether native LIPT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LIPT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LIPT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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