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Aliases for AARSD1 Gene

Aliases for AARSD1 Gene

  • Alanyl-TRNA Synthetase Domain Containing 1 2 3 5
  • Alanyl-TRNA Synthetase Domain-Containing Protein 1 4

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 Ovary Adenocarcinoma. 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 for AARSD1 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AARSD1 Gene

Genomics for AARSD1 Gene

Regulatory Elements for AARSD1 Gene

Enhancers for AARSD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F042979 0.2 ENCODE 14.4 -16.1 -16065 2.9 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 AARSD1 HMGN2P15 RPL27 IFI35 PTGES3L PTGES3L-AARSD1 PIR51537
GH17F043010 0.9 FANTOM5 ENCODE 11.7 -46.7 -46738 2.2 PKNOX1 ATF1 MLX ARID4B FEZF1 DMAP1 ZNF48 GATA2 FOS SP5 NBR2 PTGES3L-AARSD1 RUNDC1 AARSD1 MLX CNTD1 RPL29P31 NBR1 ETV4 TUBG1
GH17F043014 1.1 ENCODE 11.7 -50.8 -50810 2.6 PAF1 ZNF76 KLF17 MAX ZIC2 NR2F2 MIER3 GLIS2 POLR2A WT1 NBR2 PTGES3L-AARSD1 RUNDC1 AARSD1 IFI35 VAT1
GH17F042772 0.4 ENCODE 11.2 +190.1 190084 4.0 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 HMGN2P15 LINC00910 AOC4P CNTNAP1 MEOX1 DHX8 HMGN1P29 RAMP2-AS1 NAGLU CCR10
GH17F043322 0.9 Ensembl ENCODE 11.2 -358.7 -358673 1.7 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263 ENSG00000267340 ENSG00000267002 ASB16-AS1 HMGN1P29 DHX8 NBR2 LOC108783654 LINC00910 AOC3 ENSG00000260793
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AARSD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AARSD1 Gene

Chromosome:
17
Start:
42,950,526 bp from pter
End:
42,964,498 bp from pter
Size:
13,973 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

    Alternative splice isoforms for AARSD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AARSD1 Gene

Post-translational modifications for AARSD1 Gene

  • Ubiquitination at Lys 126, Lys 161, and Lys 287

Other Protein References for AARSD1 Gene

No data available for DME Specific Peptides for AARSD1 Gene

Domains & Families for AARSD1 Gene

Suggested Antigen Peptide Sequences for AARSD1 Gene

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

No data available for Gene Families for AARSD1 Gene

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).

Gene Ontology (GO) - Molecular Function for AARSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IBA --
GO:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0002196 Ser-tRNA(Ala) hydrolase activity IEA,IBA --
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with AARSD1: view

Phenotypes for AARSD1 Gene

GenomeRNAi human phenotypes for AARSD1:
genes like me logo Genes that share phenotypes with AARSD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AARSD1

miRNA for AARSD1 Gene

miRTarBase miRNAs that target AARSD1

Clone Products

Flow Cytometry Products

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AARSD1 Gene COMPARTMENTS Subcellular localization image for AARSD1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for AARSD1 Gene

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

Pathways & Interactions for AARSD1 Gene

SuperPathways for AARSD1 Gene

No Data Available

Interacting Proteins for AARSD1 Gene

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 IEA,IBA --
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

Transcripts for AARSD1 Gene

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for AARSD1 Gene

GeneLoc Exon Structure for
AARSD1
ECgene alternative splicing isoforms for
AARSD1

Expression for AARSD1 Gene

mRNA expression in normal human tissues 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

NURSA nuclear receptor signaling pathways regulating expression of AARSD1 Gene:

AARSD1
genes like me logo Genes that share expression patterns with AARSD1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia AARSD1 34
  • 90.45 (n)
dog
(Canis familiaris)
Mammalia AARSD1 34
  • 89 (n)
rat
(Rattus norvegicus)
Mammalia Aarsd1 34
  • 87.86 (n)
mouse
(Mus musculus)
Mammalia Aarsd1 34 16 35
  • 87.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AARSD1 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 52 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aarsd1 34
  • 65.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia mgc2744-prov 34
zebrafish
(Danio rerio)
Actinopterygii aarsd1 34 35
  • 63.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003413 34
  • 50.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10802 34 35
  • 49.87 (n)
worm
(Caenorhabditis elegans)
Secernentea ZC395.10 35
  • 6 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02794g 34
  • 46.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YNL040W 34
  • 43.8 (n)
-- 35
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13055 34
Species where no ortholog for AARSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for AARSD1 Gene

Paralogs for AARSD1 Gene

Pseudogenes.org Pseudogenes for AARSD1 Gene

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

Variants for AARSD1 Gene

Sequence variations from dbSNP and Humsavar for AARSD1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs111495715 -- 42,956,600(+) TTACT(C/G)AACAA intron-variant
rs111692321 -- 42,955,831(+) ACTGA(A/G)ACAGG intron-variant
rs111718176 -- 42,952,820(+) TTTAC(-/T)TTTTT intron-variant
rs111898605 -- 42,962,705(+) CTACT(C/G)AACAT intron-variant
rs111983108 -- 42,966,003(+) AAAAA(A/G)AAAAA intron-variant, upstream-variant-2KB

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)

Relevant External Links for AARSD1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AARSD1 Gene

Disorders for AARSD1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ovary adenocarcinoma
  • adenocarcinoma of the ovary
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for AARSD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. A Remodeled Hsp90 Molecular Chaperone Ensemble with the Novel Cochaperone Aarsd1 Is Required for Muscle Differentiation. (PMID: 26884463) EcheverrA-a P.C. … Picard D. (Mol. Cell. Biol. 2016) 3 64
  4. Transcriptomic Analysis of mRNAs in Human Monocytic Cells Expressing the HIV-1 Nef Protein and Their Exosomes. (PMID: 25961023) Aqil M. … Jameel S. (Biomed Res Int 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for AARSD1 Gene

Sources for AARSD1 Gene

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