Aliases for AARSD1 Gene

Aliases for AARSD1 Gene

  • Alanyl-TRNA Synthetase Domain Containing 1 2 3 5
  • Alanyl-TRNA Synthetase Domain-Containing Protein 1 3 4
  • Alanyl-TRNA Editing Protein Aarsd1 3 4
  • MGC2744 2
  • AARSD1 5

External Ids for AARSD1 Gene

Previous GeneCards Identifiers for AARSD1 Gene

  • GC17M038357
  • GC17M041102
  • GC17M036868

Summaries for AARSD1 Gene

GeneCards Summary for AARSD1 Gene

AARSD1 (Alanyl-TRNA Synthetase Domain Containing 1) is a Protein Coding gene. Diseases associated with AARSD1 include Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 and Autosomal Recessive Distal Hereditary Motor Neuronopathy. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and aminoacyl-tRNA editing activity. An important paralog of this gene is PTGES3L-AARSD1.

UniProtKB/Swiss-Prot Summary for AARSD1 Gene

  • Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala).

Additional gene information for AARSD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AARSD1 Gene

Genomics for AARSD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AARSD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AARSD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AARSD1

Top Transcription factor binding sites by QIAGEN in the AARSD1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Meis-1a
  • RREB-1

Genomic Locations for AARSD1 Gene

Genomic Locations for AARSD1 Gene
chr17:42,950,526-42,964,498
(GRCh38/hg38)
Size:
13,973 bases
Orientation:
Minus strand
chr17:41,102,543-41,132,545
(GRCh37/hg19)
Size:
30,003 bases
Orientation:
Minus strand

Genomic View for AARSD1 Gene

Genes around AARSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AARSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AARSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AARSD1 Gene

Proteins for AARSD1 Gene

  • Protein details for AARSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTE6-AASD1_HUMAN
    Recommended name:
    Alanyl-tRNA editing protein Aarsd1
    Protein Accession:
    Q9BTE6
    Secondary Accessions:
    • B4DI73

    Protein attributes for AARSD1 Gene

    Size:
    412 amino acids
    Molecular mass:
    45480 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: Based on a readthrough transcript which may produce a PTGES3L-AARSD1 fusion protein.
    • [Isoform 3]: Based on a readthrough transcript which may produce a PTGES3L-AARSD1 fusion protein.

    Alternative splice isoforms for AARSD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AARSD1 Gene

Post-translational modifications for AARSD1 Gene

  • Ubiquitination at Lys126, Lys161, and Lys287
  • Modification sites at PhosphoSitePlus

Other Protein References for AARSD1 Gene

No data available for DME Specific Peptides for AARSD1 Gene

Domains & Families for AARSD1 Gene

Gene Families for AARSD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AARSD1 Gene

Suggested Antigen Peptide Sequences for AARSD1 Gene

GenScript: Design optimal peptide antigens:
  • Alanyl-tRNA synthetase domain-containing protein 1 (AASD1_HUMAN)
  • cDNA FLJ56441 (B4DI73_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BTE6

UniProtKB/Swiss-Prot:

AASD1_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family. Alax-L subfamily.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family. Alax-L subfamily.
genes like me logo Genes that share domains with AARSD1: view

Function for AARSD1 Gene

Molecular function for AARSD1 Gene

UniProtKB/Swiss-Prot Function:
Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala).

Phenotypes From GWAS Catalog for AARSD1 Gene

Gene Ontology (GO) - Molecular Function for AARSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0002196 Ser-tRNA(Ala) hydrolase activity IBA 21873635
GO:0003674 molecular_function ND --
GO:0003676 nucleic acid binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
genes like me logo Genes that share ontologies with AARSD1: view
genes like me logo Genes that share phenotypes with AARSD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AARSD1

CRISPR Products

miRNA for AARSD1 Gene

miRTarBase miRNAs that target AARSD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AARSD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AARSD1 Gene

Localization for AARSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AARSD1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AARSD1 gene
Compartment Confidence
nucleus 4
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AARSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with AARSD1: view

Pathways & Interactions for AARSD1 Gene

PathCards logo

SuperPathways for AARSD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AARSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006419 alanyl-tRNA aminoacylation IEA --
GO:0006450 regulation of translational fidelity IBA 21873635
GO:0008150 biological_process ND --
GO:0043039 tRNA aminoacylation IEA --
genes like me logo Genes that share ontologies with AARSD1: view

No data available for Pathways by source and SIGNOR curated interactions for AARSD1 Gene

Drugs & Compounds for AARSD1 Gene

No Compound Related Data Available

Transcripts for AARSD1 Gene

mRNA/cDNA for AARSD1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AARSD1

Alternative Splicing Database (ASD) splice patterns (SP) for AARSD1 Gene

No ASD Table

Relevant External Links for AARSD1 Gene

GeneLoc Exon Structure for
AARSD1

Expression for AARSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AARSD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AARSD1 Gene

This gene is overexpressed in Skin (13.0), Peripheral blood mononuclear cells (7.4), and Fetal Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AARSD1 Gene



Protein tissue co-expression partners for AARSD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AARSD1

Evidence on tissue expression from TISSUES for AARSD1 Gene

  • Lung(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with AARSD1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AARSD1 Gene

Orthologs for AARSD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AARSD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AARSD1 30
  • 99.54 (n)
Cow
(Bos Taurus)
Mammalia AARSD1 30
  • 90.45 (n)
Dog
(Canis familiaris)
Mammalia AARSD1 30
  • 89 (n)
Rat
(Rattus norvegicus)
Mammalia Aarsd1 30
  • 87.86 (n)
Mouse
(Mus musculus)
Mammalia Aarsd1 30 17 31
  • 87.7 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AARSD1 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 52 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aarsd1 30
  • 65.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia mgc2744-prov 30
Zebrafish
(Danio rerio)
Actinopterygii aarsd1 30 31
  • 63.02 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003413 30
  • 50.38 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG10802 30 31
  • 49.87 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ZC395.10 31
  • 6 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02794g 30
  • 46.28 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YNL040W 30
  • 43.8 (n)
-- 31
  • 7 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13055 30
Species where no ortholog for AARSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AARSD1 Gene

ENSEMBL:
Gene Tree for AARSD1 (if available)
TreeFam:
Gene Tree for AARSD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AARSD1: view image

Paralogs for AARSD1 Gene

Paralogs for AARSD1 Gene

(33) SIMAP similar genes for AARSD1 Gene using alignment to 6 proteins:

  • AASD1_HUMAN
  • H7C1K1_HUMAN
  • K7EQ85_HUMAN
  • K7N799_HUMAN
  • L7N2F4_HUMAN
  • L7N2F5_HUMAN

Pseudogenes.org Pseudogenes for AARSD1 Gene

genes like me logo Genes that share paralogs with AARSD1: view

Variants for AARSD1 Gene

Additional dbSNP identifiers (rs#s) for AARSD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AARSD1 Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
esv3640616 CNV gain 21293372
nsv1116220 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv2057 CNV insertion 18451855
nsv457742 CNV loss 19166990
nsv483009 CNV gain 15286789
nsv575052 CNV loss 21841781

Variation tolerance for AARSD1 Gene

Residual Variation Intolerance Score: 71.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AARSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AARSD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AARSD1 Gene

Disorders for AARSD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AARSD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal muscular atrophy, distal, autosomal recessive, 1
  • dsma1
autosomal recessive distal hereditary motor neuronopathy
  • autosomal recessive distal spinal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AARSD1

genes like me logo Genes that share disorders with AARSD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AARSD1 Gene

Publications for AARSD1 Gene

  1. A Remodeled Hsp90 Molecular Chaperone Ensemble with the Novel Cochaperone Aarsd1 Is Required for Muscle Differentiation. (PMID: 26884463) Echeverría PC … Picard D (Molecular and cellular biology 2016) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  5. The nuclear interactome of DYRK1A reveals a functional role in DNA damage repair. (PMID: 31024071) Guard SE … Old WM (Scientific reports 2019) 3

Products for AARSD1 Gene

Sources for AARSD1 Gene