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Protein Page:
DISC1 (human)

Overview
DISC1 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. 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. Genetic variation in DISC1 is associated with susceptibility to schizophrenia type 9 (SCZD9). 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. 8 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell development/differentiation; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1q42.1
Cellular Component: centrosome; mitochondrion
Molecular Function: protein binding
Biological Process: microtubule cytoskeleton organization and biogenesis; neuron migration; positive regulation of neuroblast proliferation; positive regulation of Wnt receptor signaling pathway
Disease: Schizophrenia; Schizophrenia 9
Reference #:  Q9NRI5 (UniProtKB)
Alt. Names/Synonyms: C1orf136; DISC1; disrupted in schizophrenia 1; Disrupted in schizophrenia 1 protein; FLJ13381; FLJ21640; FLJ25311; FLJ41105; KIAA0457; Putative uncharacterized protein C1orf136; SCZD9
Gene Symbols: DISC1
Molecular weight: 93,611 Da
Basal Isoelectric point: 5.96  Predict pI for various phosphorylation states
Select Structure to View Below

DISC1

Protein Structure Not Found.


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