InnateDB Protein
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IDBP-749985.3
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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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NOL3
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Protein Name
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Synonyms
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ARC; FCM; MYP; NOP; NOP30;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000454598
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InnateDB Gene
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IDBG-36117 (NOL3)
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Protein Structure
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Function |
Isoform 1 may be involved in RNA splicing.Isoform 2 may inhibit apoptosis.
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Subcellular Localization |
Isoform 1: Nucleus, nucleolus. Note=The SR- rich C-terminus mediates nuclear localization.Isoform 2: Cytoplasm.Isoform 3: Cytoplasm {ECO:0000305}.
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Disease Associations |
Myoclonus, familial cortical (FCM) [MIM:614937]: An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness. {ECO:0000269PubMed:22926851}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in heart and skeletal muscle. Detected at low levels in placenta, liver, kidney and pancreas.
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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 43 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated |
Total |
43
[view]
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Protein-Protein |
36
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
7
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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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 |
IPR001315
CARD domain
IPR011029
Death-like domain
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PFAM |
PF00619
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PRINTS |
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PIRSF |
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SMART |
SM00114
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TIGRFAMs |
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Modification |
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SwissProt |
O60936
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
8996
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UniGene |
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RefSeq |
NP_001263240
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HUGO |
HGNC:7869
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OMIM |
605235
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CCDS |
CCDS58473
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HPRD |
05572
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IMGT |
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EMBL |
AC074143
AF043244
AF064598
AF064599
AF064600
AK294145
BC012798
CH471092
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GenPept |
AAC18590
AAC18591
AAC18593
AAC18594
AAC34993
AAH12798
BAG57471
EAW83087
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