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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
Cellular Component: postsynaptic membrane; microtubule; centrosome; mitochondrion; postsynaptic density; cell junction
Molecular Function: protein binding
Biological Process: positive regulation of neuroblast proliferation; mitochondrial calcium ion homeostasis; protein localization; TOR signaling pathway; cell proliferation in forebrain; neuron migration; cerebral cortex radially oriented cell migration; Wnt receptor signaling pathway through beta-catenin; microtubule cytoskeleton organization and biogenesis; positive regulation of Wnt receptor signaling pathway
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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Sites Implicated In
transcription, induced: S58‑p
intracellular localization: S58‑p
molecular association, regulation: S58‑p

Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
1 0 T50-p PGYMRSStGPGIGFL
2 0 S58-p GPGIGFLsPAVGTLF
0 2 T109-p SAAAPTVtsVRGTSA
0 3 S110-p AAAPTVtsVRGTSAH
1 0 S713-p QLQEARGsLSVEDER
  DISC1 iso6  
T50 PGYMRSSTGPGIGFL
S58 GPGIGFLSPAVGTLF
T109 SAAAPTVTSVRGTSA
S110 AAAPTVTSVRGTSAH
- gap
  mouse

 
A46 PGYMRSTAGSGIGFL
S54 GSGIGFLSPAVGMPH
A109 SSLVPAVASEGHLHP
S110 SLVPAVASEGHLHPA
S710-p QLQEAGSsPHAEDEE
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