InnateDB Protein
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IDBP-107068.7
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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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ADCK3
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Protein Name
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aarF domain containing kinase 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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ENSP00000355740
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InnateDB Gene
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IDBG-107062 (ADCK3)
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Protein Structure
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Function |
Putative protein kinase involved in the biosynthesis of coenzyme Q since it is able to rescue partially coenzyme Q6 biosynthesis of yeast COQ8 mutants. May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain. {ECO:0000269PubMed:21296186}.
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Subcellular Localization |
Mitochondrion {ECO:0000269PubMed:11888884}.
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Disease Associations |
Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]: An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. {ECO:0000269PubMed:18319072, ECO:0000269PubMed:18319074}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle. {ECO:0000269PubMed:24270420}.
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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 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
1
[view]
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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 |
Accession |
GO Term |
GO:0004674
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protein serine/threonine kinase activity
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GO:0005524
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ATP binding
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GO:0016772
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transferase activity, transferring phosphorus-containing groups
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004147
UbiB domain
IPR011009
Protein kinase-like domain
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PFAM |
PF03109
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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 |
Q8NI60
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PhosphoSite |
PhosphoSite-Q8NI60
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TrEMBL |
Q5T7A2
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UniProt Splice Variant |
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Entrez Gene |
56997
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UniGene |
Hs.118241
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RefSeq |
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HUGO |
HGNC:16812
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OMIM |
606980
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CCDS |
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HPRD |
07375
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IMGT |
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EMBL |
AB073905
AF218003
AJ278126
AK074693
AK090494
AL353689
BC005171
BX648860
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GenPept |
AAG17245
AAH05171
BAB91363
BAC11143
BAG52171
CAC00482
CAH56132
CAI19103
CAI19105
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