1. Gene
  2. LARS1 - leucyl-tRNA synthetase 1 Gene

LARS1 - leucyl-tRNA synthetase 1 Gene

中文名称:亮氨酰 tRNA 合成酶 1

种属: Homo sapiens

同用名: LRS; LARS; LEUS; LFIS; ILFS1; LEURS; PIG44; RNTLS; HSPC192; hr025Cl

基因 ID: 51520 | 基因类型: protein coding

关于 LARS1

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:146,113,034-146,182,650 (from NCBI)

This gene has 32 transcripts (splice variants), 207 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 24.0), brain (RPKM 19.6) and 25 other tissues.

功能概要

该基因编码胞质亮氨酸-tRNA 合成酶,是 I 类氨酰-tRNA 合成酶家族的成员。编码的酶催化 L-亮氨酸与 tRNA (Leu) 的 ATP 依赖性连接。它作为多合成酶复合物的一部分存在于细胞质中,并通过其 C 末端结构域与精氨酸 tRNA 合成酶相互作用。在患有婴儿肝衰竭综合征 1 的受影响个体中发现了该基因的突变。已经观察到该基因的选择性剪接转录物变体。[RefSeq 提供,2015 年 12 月]

This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I Aminoacyl-tRNA Synthetase family. The encoded Enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]

LARS1 基因产物(4)

mRNA Protein Name
NM_001317964.2 NP_001304893.1 leucine--tRNA ligase, cytoplasmic isoform 3
NM_001317965.2 NP_001304894.1 leucine--tRNA ligase, cytoplasmic isoform 4
NM_016460.4 NP_057544.2 leucine--tRNA ligase, cytoplasmic isoform 2
NM_020117.11 NP_064502.9 leucine--tRNA ligase, cytoplasmic isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activator activity IMP
IMP: 通过突变表型推断
22424946 GOA
enables aminoacyl-tRNA editing activity IDA
IDA: 通过直接分析推断
25051973 GOA
enables glutamine-tRNA ligase activity IDA
IDA: 通过直接分析推断
26869582 GOA
enables leucine-tRNA ligase activity IDA
IDA: 通过直接分析推断
25051973 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16055448 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to L-leucine IMP
IMP: 通过突变表型推断
22424946 GOA
involved in cellular response to amino acid starvation IMP
IMP: 通过突变表型推断
22424946 GOA
involved in cellular response to amino acid stimulus IMP
IMP: 通过突变表型推断
22424946 GOA
involved in cellular response to leucine starvation IMP
IMP: 通过突变表型推断
22424946 GOA
involved in glutaminyl-tRNA aminoacylation IDA
IDA: 通过直接分析推断
26869582 GOA
involved in leucyl-tRNA aminoacylation IDA
IDA: 通过直接分析推断
25051973 GOA
involved in positive regulation of GTPase activity IMP
IMP: 通过突变表型推断
22424946 GOA
involved in positive regulation of TOR signaling IMP
IMP: 通过突变表型推断
22424946 GOA
involved in positive regulation of TORC1 signaling IMP
IMP: 通过突变表型推断
22424946 GOA
involved in regulation of cell size IMP
IMP: 通过突变表型推断
22424946 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of aminoacyl-tRNA synthetase multienzyme complex IDA
IDA: 通过直接分析推断
19131329 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
22424946 GOA
located in cytosol IDA
IDA: 通过直接分析推断
19289464 GOA
located in endomembrane system IDA
IDA: 通过直接分析推断
22424946 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
22424946 GOA
located in lysosome IMP
IMP: 通过突变表型推断
22424946 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

LARS1 蛋白结构

tRNA-synt_1

tRNA-synt_1: tRNA synthetases class I (I, L, M and V) (20 - 103)

tRNA-synt_1

tRNA-synt_1: tRNA synthetases class I (I, L, M and V) (188 - 755)

Anticodon_1

Anticodon_1: Anticodon-binding domain of tRNA (794 - 904)

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  • 1176 a.a.
蛋白主名 其他名称

leucine--tRNA ligase, cytoplasmic

cytoplasmic leucyl-tRNA synthetase

LARS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
LARS1 Q9P2J5 RPTOR Homo sapiens Q8N122
Anti Tag CoIP
22424946
种属内
LARS1 Q9P2J5 RARS1 Homo sapiens P54136
Anti Tag CoIP
33961781
种属内
LARS1 Q9P2J5 RARS1 Homo sapiens P54136
Anti Tag CoIP
16055448
种属内
LARS1 Q9P2J5 RRAGD Homo sapiens Q9NQL2
Pull Down
22424946
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Infantile Liver Failure Syndrome 1

ILFS1

Acute Infantile Liver Failure-Multisystemic Involvement Syndrome

Liver Failure Syndrome, Infantile, Type 1

Liver Failure

Infantile Liver Failure Syndrome

Infantile Liver Failure

Liver Failure, Infantile, Transient

Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins

Transient Infantile Liver Failure

LFIT

Acute Infantile Liver Failure

Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins

Liver Failure, Transient Infantile

Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect

Liver Failure, Acute Infantile

Failure, Liver, Transient, Infantile

Supine Hypotensive Syndrome

Maternal Hypotension Syndrome

Antepartum Maternal Hypotension Syndrome

Postpartum Maternal Hypotension Syndrome

Maternal Hypotension Syndrome, Antepartum Condition Or Complication

Maternal Hypotension Syndrome, Postpartum Condition Or Complication

Maternal Hypotension Syndrome, Unspecified Trimester

Cecum Lymphoma

Cecal Lymphoma

Tremor, Hereditary Essential, 2

ETM2

Essential Tremor 2

Essential Tremor, Hereditary, 2

Hereditary Essential Tremor 2

Tremor Hereditary Essential, 2

Fetishism

Fetishism, Psychiatric

Multidrug-Resistant Tuberculosis

Tuberculosis, Multidrug-Resistant

Tuberculosis Multidrug-Resistant

Meckel'S Diverticulitis

Meckel Diverticulitis

Sleeping Sickness

African Trypanosomiasis

African Sleeping Sickness

Trypanosomiasis, Human East-African

Trypanosomiasis, East African

Trypanosomiasis African

Trypanosomiasis, African

Human African Trypanosomiasis

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta LARS1 VGNC VGNC:84403
Rattus norvegicus LARS1 RGD RGD:1304962
Mus musculus LARS1 MGD MGI:1913808
Bos taurus LARS1 VGNC VGNC:30795
Canis familiaris LARS1 VGNC VGNC:42592
Felis catus LARS1 VGNC VGNC:68020