LIPT1 - lipoyltransferase 1 Gene

Homo sapiens

Also known as LIPT1D

Gene ID: 51601 | Gene type: protein coding

About LIPT1

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:99,154,967-99,163,137 (from NCBI)

This gene has 8 transcripts (splice variants), 187 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues.

Summary

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]

LIPT1 Products(5)

mRNA	Protein	Name
NM_001204830.2	NP_001191759.1	lipoyltransferase 1, mitochondrial precursor
NM_015929.4	NP_057013.1	lipoyltransferase 1, mitochondrial precursor
NM_145197.3	NP_660198.1	lipoyltransferase 1, mitochondrial precursor
NM_145198.3	NP_660199.1	lipoyltransferase 1, mitochondrial precursor
NM_145199.3	NP_660200.1	lipoyltransferase 1, mitochondrial precursor

LIPT1 Protein Structure

BPL_LplA_LipB

0
100
200
300
373 a.a.

Protein Preferred Names

Protein Names

lipoyltransferase 1, mitochondrial

lipoate biosynthesis protein

LIPT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	LIPT1	Q9Y234	PRKCA	Homo sapiens	P17252	Anti Tag CoIP	33961781
Intra	LIPT1	Q9Y234	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	LIPT1	Q9Y234	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	LIPT1	Q9Y234	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	LIPT1	Q9Y234	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
Intra	LIPT1	Q9Y234	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
Intra	LIPT1	Q9Y234	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Lipoyltransferase 1 Deficiency

Lipoyl Transferase 1 Deficiency

LIPT1D

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

Optic Nerve Disease

Optic Neuropathy	Disorder Of The Second Nerve
Optic Nerve Disorder	Optic Nerve
Abnormality Of The Optic Nerve	Optic Nerve Disorders
Neuropathy, Optic	Disorder Of The Optic Nerve

Hypotonia

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Decarboxylase Deficiency	Pdh Deficiency
PDHAD	Pyruvate Dehydrogenase Complex Deficiency Disease
Ataxia With Lactic Acidosis I	Ataxia With Lactic Acidosis 1
Pdh	Pdhc
Ataxia With Lactic Acidosis	Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency	Deficiency Of Pyruvic Dehydrogenase
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency	Pdc Deficiency
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency	Pdhc Deficiency
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency	Ataxia Intermittent With Abnormal Pyruvate Metabolism
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency	Pyruvate Dehydrogenase E1 Alpha Deficiency
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency	Ataxia With Lactic Acidosis 2

Combined Malonic And Methylmalonic Aciduria

CMAMMA	Combined Malonic And Methylmalonic Acidemia
Aciduria, Combined Malonic And Methylmalonic

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07696	LIPT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS16258	Lipt1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LIPT1	MGD	MGI:3645211
Macaca mulatta	LIPT1	VGNC	VGNC:74395
Rattus norvegicus	LIPT1	RGD	RGD:1310276
Felis catus	LIPT1	VGNC	VGNC:81114
Bos taurus	LIPT1	VGNC	VGNC:30910
Canis familiaris	LIPT1	VGNC	VGNC:42701

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