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

AARSD1 - alanyl-tRNA synthetase domain containing 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AlaXp

Gene ID: 80755 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_001261434.2 NP_001248363.1 alanyl-tRNA editing protein Aarsd1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25036637 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AARSD1 Protein Structure

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.
Protein Preferred Names Protein Names

alanyl-tRNA editing protein Aarsd1

alanyl-tRNA synthetase domain-containing protein 1

Recombinant AARSD1 Proteins

Cat. No. Product Name Accession Purity
HY-P76131 AARSD1 Protein, Human (His) Q9BTE6-2 (T176-E525) ≥95%

Related Diseases

Diseases Alias
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
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00030 AARSD1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus AARSD1 MGD MGI:1916934
Rattus norvegicus AARSD1 RGD RGD:1561650