2. Gene
  3. AARSD1 - alanyl-tRNA synthetase domain containing 1 Gene

AARSD1 - alanyl-tRNA synthetase domain containing 1 Gene

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

中文名称：含丙氨酰-tRNA 合成酶结构域 1

种属: Homo sapiens

同用名: AlaXp

基因 ID: 80755 | 基因类型: protein coding

关于 AARSD1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:42,950,526-42,964,454 (from NCBI)

This gene has 19 transcripts (splice variants), 202 orthologues and 2 paralogues. Broad expression in testis (RPKM 38.9), brain (RPKM 14.2) and 25 other tissues.

功能概要

预计会启用 Ser-tRNA (Ala) 水解酶活性。预计将参与翻译保真度的调节。位于核内。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable Ser-tRNA(Ala) hydrolase activity. Predicted to be involved in regulation of translational fidelity. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

AARSD1 基因产物(1)

mRNA Protein Name
NM_001261434.2 NP_001248363.1 alanyl-tRNA editing protein Aarsd1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25036637 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

AARSD1 蛋白结构

tRNA-synt_2c

tRNA-synt_2c: tRNA synthetases class II (A) (40 - 101)

tRNA_SAD

tRNA_SAD: Threonyl and Alanyl tRNA synthetase second additional domain (196 - 234)

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

alanyl-tRNA editing protein Aarsd1

alanyl-tRNA synthetase domain-containing protein 1

重组 AARSD1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76131 AARSD1 Protein, Human (His) Q9BTE6-2 (T176-E525) ≥95%

关联疾病

疾病名称 别名
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1

DSMA1

Sianrf

Dhmn6

Spinal Muscular Atrophy With Respiratory Distress 1

HMN6

Severe Infantile Axonal Neuropathy With Respiratory Failure

Autosomal Recessive Distal Spinal Muscular Atrophy 1

Diaphragmatic Spinal Muscular Atrophy

Spinal Muscular Atrophy With Respiratory Distress Type 1

Neuronopathy, Distal Hereditary Motor, Type Vi

Hmn Vi

Neuronopathy, Severe Infantile Axonal, With Respiratory Failure

Distal Spinal Muscular Atrophy 1

Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress

Distal Hereditary Motor Neuropathy Type 6

Distal-Hmn Type 6

Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1

Spinal Muscular Atrophy, Diaphragmatic

Distal Hereditary Motor Neuronopathy Type Vi

Distal Spinal Muscular Atrophy Type 1

Hmnvi

Spinal Muscular Atrophy With Respiratory Distress

Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

Neuronopathy, Distal Hereditary Motor, 6

Dhmn Vi

Distal Hereditary Motor Neuropathy Type Vi

Severe Infantile Axonal Neuronopathy With Respiratory Failure

Spinal Muscular Atrophy Distal Autosomal Recessive 1

Atrophy, Muscular, Spinal, Distal, Type 1
Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00030 AARSD1 Human 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 AARSD1 MGD MGI:1916934
Rattus norvegicus AARSD1 RGD RGD:1561650
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