LIPT1 - lipoyltransferase 1 Gene

Also Known as LIPT1D

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 51601

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

BPL_LplA_LipB: Biotin/lipoate A/B protein ligase family (74 - 185)

  • 0
  • 100
  • 200
  • 300
  • 373 a.a.
Protein Preferred Names Protein Names

lipoyltransferase 1, mitochondrial

  • lipoate biosynthesis protein

LIPT1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
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

LIPT1 抗体

製品番号 製品名 アプリケーション 反応性
HY-P86945 LIPT1 Antibody (YA6638) WB, ICC/IF, IHC-P, FC Human, Mouse, Rat

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (3)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS16258 Lipt1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26200 Lipt1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS07696 LIPT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others LIPT1 NCBI