AARSD1 - alanyl-tRNA synthetase domain containing 1 Gene

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

AARSD1 Protein Structure

tRNA-synt_2c

tRNA_SAD

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		/	Unkown

Orthologs Information

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

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