InnateDB Protein
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IDBP-107447.7
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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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DISC1
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Protein Name
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disrupted in schizophrenia 1
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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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ENSP00000355596
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InnateDB Gene
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IDBG-107439 (DISC1)
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Protein Structure
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Function |
Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation. Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A. Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development. Plays a role, together with PCNT, in the microtubule network formation. {ECO:0000269PubMed:18955030, ECO:0000269PubMed:19303846, ECO:0000269PubMed:19502360}.
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Subcellular Localization |
Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=Colocalizes with NDEL1 in the perinuclear region and the centrosome (By similarity). Localizes to punctate cytoplasmic foci which overlap in part with mitochondria. Colocalizes with PCNT at the centrosome. {ECO:0000250}.
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Disease Associations |
Note=A chromosomal aberration involving DISC1 segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Translocation t(1;11)(q42.1;q14.3). The truncated DISC1 protein produced by this translocation is unable to interact with ATF4, ATF5 and NDEL1.Schizophrenia 9 (SCZD9) [MIM:604906]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269PubMed:11468279, ECO:0000269PubMed:14532331, ECO:0000269PubMed:15939883}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous. Highly expressed in the dentate gyrus of the hippocampus. Also expressed in the temporal and parahippocampal cortices and cells of the white matter. {ECO:0000269PubMed:16510495}.
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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 140 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
140
[view]
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Protein-Protein |
140
[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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Predicted by orthology |
Total |
3 [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 |
Q9NRI5
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PhosphoSite |
PhosphoSite-Q9NRI5
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TrEMBL |
C4P0C8
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UniProt Splice Variant |
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Entrez Gene |
27185
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UniGene |
Hs.609780
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RefSeq |
NP_001158025
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HUGO |
HGNC:2888
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OMIM |
605210
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CCDS |
CCDS31055
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HPRD |
05553
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IMGT |
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EMBL |
AB007926
AF222980
AF222983
AF222987
AJ506177
AJ506178
AL136171
AL161743
AL359543
AL445200
AL450284
AL626763
AL751364
FJ804174
FJ804178
FJ804180
FJ804182
FJ804184
FJ804186
FJ804190
FJ804191
FJ804196
FJ804197
FJ804199
FJ804200
FJ804203
FJ804204
FJ804205
FJ804208
FJ804211
FJ804212
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GenPept |
AAF73874
AAF73877
AAF73889
ACR40040
ACR40044
ACR40046
ACR40048
ACR40050
ACR40052
ACR40056
ACR40057
ACR40062
ACR40063
ACR40065
ACR40066
ACR40069
ACR40070
ACR40071
ACR40074
ACR40077
ACR40078
BAA32302
CAD44628
CAD44631
CAH70955
CAH70956
CAH70957
CAI15677
CAI15679
CAI17204
CAI17206
CAI17207
CAI21886
CAI21888
CAI22543
CAI23013
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