ADAT3 (adenosine deaminase tRNA specific 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
113179
Gene name Gene Name - the full gene name approved by the HGNC.
Adenosine deaminase tRNA specific 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAT3
Synonyms (NCBI Gene) Gene synonyms aliases
FWP005, MRT36, MST121, MSTP121, NEDBGF, S863-5, TAD3
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT767663 hsa-miR-147b CLIP-seq
MIRT767664 hsa-miR-210 CLIP-seq
MIRT767665 hsa-miR-3155 CLIP-seq
MIRT767666 hsa-miR-3155b CLIP-seq
MIRT767667 hsa-miR-484 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005654 Component Nucleoplasm TAS
GO:0005737 Component Cytoplasm IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615302 25151 ENSG00000213638
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96EY9
Protein name Probable inactive tRNA-specific adenosine deaminase-like protein 3 (tRNA-specific adenosine-34 deaminase subunit ADAT3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00383 dCMP_cyt_deam_1 170 → 310 Cytidine and deoxycytidylate deaminase zinc-binding region Family
Sequence 
MEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLL
KEVSALHPLPAQPHLKRVRPSRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGL
GQPFLVPVPARPPLTRGQFEEARAHWPTSFHEDKQVTSALAGRLFSTQERAAMQSHMERA
VWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHAVMVCVDLVARGQGRGT
YDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVH
ARILRVFYGAPSPDGALGTRFRIHARPDLNHRFQVFRGVLEEQCRWLDPDT
Sequence length 351
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    tRNA modification in the nucleus and cytosol
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intellectual Disability-Strabismus Syndrome intellectual disability-strabismus syndrome rs746859902 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cerebral Palsy Associate 35076175
Deafness Autosomal Recessive 36 Associate 35405382
Intellectual Disability Associate 31263000, 32763916, 35405382