InnateDB Protein
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IDBP-25995.7
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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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AKAP9
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Protein Name
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A kinase (PRKA) anchor protein (yotiao) 9
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Synonyms
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AKAP-9; AKAP350; AKAP450; CG-NAP; HYPERION; LQT11; MU-RMS-40.16A; PPP1R45; PRKA9; YOTIAO;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000350813
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InnateDB Gene
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IDBG-25989 (AKAP9)
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Protein Structure
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Function |
Binds to type II regulatory subunits of protein kinase A. Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. May be required to maintain the integrity of the Golgi apparatus. Isoform 4 is associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations. {ECO:0000269PubMed:15047863}.
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Subcellular Localization |
Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Golgi apparatus. Note=Cytoplasmic in parietal cells.
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Disease Associations |
Long QT syndrome 11 (LQT11) [MIM:611820]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269PubMed:18093912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Isoform 4 is highly expressed in skeletal muscle and in 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 49 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated |
Total |
49
[view]
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Protein-Protein |
46
[view]
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Protein-DNA |
3
[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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Predicted by orthology |
Total |
4 [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 |
IPR009053
Prefoldin
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PFAM |
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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 |
Q99996
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PhosphoSite |
PhosphoSite-Q99996
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
10142
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UniGene |
Hs.651221
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RefSeq |
XP_006715890
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HUGO |
HGNC:379
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OMIM |
604001
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CCDS |
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HPRD |
04921
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IMGT |
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EMBL |
AB018346
AB019691
AC000066
AC000120
AC004013
AF026245
AF083037
AF091711
AJ010770
AJ131693
CH236949
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GenPept |
AAB86384
AAB96867
AAC60380
AAD22767
AAD39719
AAS07419
BAA34523
BAA78718
CAA09361
CAB40713
EAL24155
EAL24156
EAL24157
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