2. Gene
  3. LIPT1 - lipoyltransferase 1 Gene

LIPT1 - lipoyltransferase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：脂酰转移酶 1

种属: Homo sapiens

同用名: LIPT1D

基因 ID: 51601 | 基因类型: protein coding

关于 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.

功能概要

将硫辛酸转移到蛋白质的过程是一个两步过程。第一步是硫辛酸激活酶激活硫辛酸形成硫辛酰-AMP。第二步，由该基因编码的蛋白质将脂酰部分转移到载脂蛋白。可变剪接导致多个转录本变体。已在 13 号染色体上鉴定出一个相关的假基因。该基因与相邻的下游线粒体核糖体蛋白 L30 (MRPL30) 基因之间也存在通读转录。[RefSeq 提供，2011 年 3 月]

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 基因产物(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 蛋白结构

BPL_LplA_LipB

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

  • 0
  • 100
  • 200
  • 300
  • 373 a.a.
蛋白主名 其他名称

lipoyltransferase 1, mitochondrial

lipoate biosynthesis protein

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07696 LIPT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS16258 Lipt1 Mouse Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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