InnateDB Protein
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IDBP-15150.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ADAT3
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Protein Name
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adenosine deaminase, tRNA-specific 3
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000332448
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InnateDB Gene
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IDBG-239705 (ADAT3)
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Protein Structure
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Function |
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Subcellular Localization |
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Disease Associations |
Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT36 is often associated with esotropia and failure to thrive. Other more variable features included microcephaly, hypotonia, and mild brain abnormalities on MRI, such as dilated ventricles or delayed myelination. {ECO:0000269PubMed:23620220}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002125
CMP/dCMP deaminase, zinc-binding
IPR016193
Cytidine deaminase-like
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PFAM |
PF00383
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96EY9
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PhosphoSite |
PhosphoSite-Q96EY9
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TrEMBL |
D6W601
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UniProt Splice Variant |
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Entrez Gene |
113179
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UniGene |
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RefSeq |
NP_612431
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HUGO |
HGNC:25151
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OMIM |
615302
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CCDS |
CCDS12076
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HPRD |
14000
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IMGT |
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EMBL |
AC012615
BC011824
CH471139
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GenPept |
AAH11824
EAW69434
EAW69436
EAW69438
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