InnateDB Protein
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IDBP-44998.6
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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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KIAA0513
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Protein Name
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KIAA0513
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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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ENSP00000258180
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InnateDB Gene
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IDBG-44996 (KIAA0513)
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Protein Structure
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Function |
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Subcellular Localization |
Cytoplasm {ECO:0000305PubMed:17010949}.
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Disease Associations |
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Tissue Specificity |
Widely expressed, highest levels in cerebellum, brain cortex, hippocampus, pons, putamen and amygdala. Highly expressed in neurons, but also present in glial cells. Slightly higher expression in the dorsolateral prefrontal cortex of schizophrenic patients compared to control individuals. {ECO:0000269PubMed:17010949}.
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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 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[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 |
IPR022096
Myotubularin protein
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PFAM |
PF12335
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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 |
O60268
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PhosphoSite |
PhosphoSite-O60268
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
9764
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UniGene |
Hs.301658
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RefSeq |
NP_055547
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HUGO |
HGNC:29058
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OMIM |
611675
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CCDS |
CCDS32499
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HPRD |
17192
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IMGT |
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EMBL |
AB011085
AC026469
AC092341
AK299892
BC030280
CH471114
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GenPept |
AAH30280
BAA25439
BAG61737
EAW95460
EAW95462
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