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MT000965

UniProt Annotations

Entry Information
Gene Namedisrupted in schizophrenia 1
Protein EntryDISC1_HUMAN
UniProt IDQ9NRI5
SpeciesHuman
Comments
Comment typeDescription
Alternative Products Event=Alternative splicing; Named isoforms=11; Comment=Additional isoforms seem to exist. More than 50 different isoforms are produced in the brain.; Name=1; Synonyms=L; IsoId=Q9NRI5-1; Sequence=Displayed; Name=2; Synonyms=LV; IsoId=Q9NRI5-2; Sequence=VSP_003849; Name=3; Synonyms=S; IsoId=Q9NRI5-3; Sequence=VSP_019316, VSP_019317; Name=4; Synonyms=ES; IsoId=Q9NRI5-4; Sequence=VSP_019314, VSP_019315; Name=5; Synonyms=26; IsoId=Q9NRI5-5; Sequence=VSP_043214; Name=6; IsoId=Q9NRI5-6; Sequence=VSP_043585, VSP_043586; Name=7; IsoId=Q9NRI5-7; Sequence=VSP_043583, VSP_043584, VSP_043586; Name=8; IsoId=Q9NRI5-8; Sequence=VSP_043587, VSP_043588; Name=9; IsoId=Q9NRI5-9; Sequence=VSP_047530, VSP_047531; Name=10; IsoId=Q9NRI5-10; Sequence=VSP_047526, VSP_047527; Name=11; IsoId=Q9NRI5-11; Sequence=VSP_047525, VSP_047528, VSP_047529;
Developmental Stage Expression rises within the dentate gyrus and temporal cortex from the neonatal period to infancy, declines markedly in adolescence, and declines further with aging. {ECO:0000269|PubMed:16510495}.
Disease 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.
Disease 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:0000269|PubMed:11468279, ECO:0000269|PubMed:14532331, ECO:0000269|PubMed:15939883}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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:0000269|PubMed:18955030, ECO:0000269|PubMed:19303846, ECO:0000269|PubMed:19502360}.
Interaction P35609:ACTN2; NbExp=3; IntAct=EBI-529989, EBI-77797; Q8IWZ3-1:ANKHD1; NbExp=6; IntAct=EBI-529989, EBI-1785446; P18848:ATF4; NbExp=3; IntAct=EBI-529989, EBI-492498; Q9Y2D1:ATF5; NbExp=8; IntAct=EBI-529989, EBI-492509; Q6VMQ6:ATF7IP; NbExp=3; IntAct=EBI-529989, EBI-928732; Q6ZP82:CCDC141; NbExp=5; IntAct=EBI-529989, EBI-928795; Q96MT8:CEP63; NbExp=7; IntAct=EBI-529989, EBI-741977; P10909:CLU; NbExp=4; IntAct=EBI-529989, EBI-1104674; P12110:COL6A2; NbExp=3; IntAct=EBI-529989, EBI-928749; Q13561:DCTN2; NbExp=3; IntAct=EBI-529989, EBI-715074; Q03001:DST; NbExp=5; IntAct=EBI-529989, EBI-310758; Q14204:DYNC1H1; NbExp=3; IntAct=EBI-529989, EBI-356015; O15372:EIF3H; NbExp=8; IntAct=EBI-529989, EBI-709735; Q15811:ITSN1; NbExp=3; IntAct=EBI-529989, EBI-602041; Q9Y496:KIF3A; NbExp=3; IntAct=EBI-529989, EBI-1104844; Q9UPN3:MACF1; NbExp=5; IntAct=EBI-529989, EBI-522925; P78559:MAP1A; NbExp=3; IntAct=EBI-529989, EBI-929047; Q9GZM8:NDEL1; NbExp=13; IntAct=EBI-529989, EBI-928842; Q99784:OLFM1; NbExp=3; IntAct=EBI-529989, EBI-1105073; O95613:PCNT; NbExp=5; IntAct=EBI-529989, EBI-530012; Q96S59:RANBP9; NbExp=6; IntAct=EBI-529989, EBI-636085; Q01082:SPTBN1; NbExp=3; IntAct=EBI-529989, EBI-351561; Q9H254:SPTBN4; NbExp=3; IntAct=EBI-529989, EBI-308543; Q8NF91:SYNE1; NbExp=6; IntAct=EBI-529989, EBI-928867; Q8TDR0:TRAF3IP1; NbExp=10; IntAct=EBI-529989, EBI-928811; O75962:TRIO; NbExp=3; IntAct=EBI-529989, EBI-718519;
Sequence Caution Sequence=BAA32302.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH70955.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15677.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17204.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21886.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22543.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI23013.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Subcellular Location 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}.
Subunit Interacts with NDEL1 (PubMed:12506198). Interacts with CCDC88A (via C-terminus); the interaction is direct. Interacts with GSK3B (By similarity). Interacts with tubulin alpha, ACTN2, ANKHD1, ATF4, ATF5, CEP63, EIF3S3, MAP1A, NDEL1, PAFAH1B1, RANBP9, SPTBN4, SYNE1 and TRAF3IP1 (PubMed:12812986). Interaction with microtubules may be mediated in part by TRAF3IP1. Interacts (via C-terminal) with PCNT (PubMed:18955030). Interacts with CHCHD6 (PubMed:22228767). Interacts with CCDC141 (By similarity). {ECO:0000250|UniProtKB:Q811T9, ECO:0000269|PubMed:12506198, ECO:0000269|PubMed:12812986, ECO:0000269|PubMed:14962739, ECO:0000269|PubMed:17035248, ECO:0000269|PubMed:18955030, ECO:0000269|PubMed:22228767}.
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:0000269|PubMed:16510495}.