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  3. DARS1 - aspartyl-tRNA synthetase 1 Gene

DARS1 - aspartyl-tRNA synthetase 1 Gene

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

中文名称：天冬氨酰-tRNA 合成酶 1

种属: Homo sapiens

同用名: DARS; HBSL; aspRS

基因 ID: 1615 | 基因类型: protein coding

关于 DARS1

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:135,905,881-135,985,684 (from NCBI)

This gene has 11 transcripts (splice variants), 211 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 24.7), lymph node (RPKM 20.9) and 25 other tissues.

功能概要

该基因编码多酶复合体的一个成员，该复合体的功能是介导氨基酸与其同源 tRNA 的结合。编码的蛋白质将 L-天冬氨酸连接到 tRNA (Asp) 。该基因的突变已在表现出髓鞘形成不足并伴有脑干和脊髓受累以及腿部痉挛的患者中发现。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 6 月]

This gene encodes a member of a multienzyme complex that functions in mediating the attachment of Amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

DARS1 基因产物(2)

mRNA Protein Name
NM_001293312.1 NP_001280241.1 aspartate--tRNA ligase, cytoplasmic isoform 2
NM_001349.4 NP_001340.2 aspartate--tRNA ligase, cytoplasmic isoform 1

DARS1 蛋白结构

tRNA_anti-codon

tRNA_anti-codon: OB-fold nucleic acid binding domain (60 - 145)

tRNA-synt_2

tRNA-synt_2: tRNA synthetases class II (D, K and N) (175 - 495)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 501 a.a.
蛋白主名 其他名称

aspartate--tRNA ligase, cytoplasmic

aspartate tRNA ligase 1, cytoplasmic

重组 DARS1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75309 DARS Protein, Human (His) P14868 (M1-P501) ≥95%
HY-P75309A DARS Protein, Human P14868 (M1-P501) /

关联疾病

疾病名称 别名
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity

HBSL

Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity

Aspartyl-Trna Synthetase Deficiency
Spasticity
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-RS03532 DARS1 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus DARS1 MGD MGI:2442544
Felis catus DARS1 VGNC VGNC:61341
Macaca mulatta DARS1 VGNC VGNC:84226
Canis familiaris DARS1 VGNC VGNC:39774
Bos taurus DARS1 VGNC VGNC:27881
Rattus norvegicus DARS1 RGD RGD:621167
Others DARS1 NCBI
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