DISC1 Antibody – Rabbit Polyclonal

This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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. Ref.17 Ref.18 Ref.19

Subunit structure: Interacts with NDEL1. 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. Interaction with microtubules may be mediated in part by TRAF3IP1. Interacts (via C-terminal) with PCNT. Interacts with CHCHD6. Ref.7 Ref.9 Ref.12 Ref.16 Ref.17 Ref.20

Subcellular location: Cytoplasm. Cytoplasm › cytoskeleton. Cytoplasm › cytoskeleton › microtubule organizing center › centrosome. Cell junction › synapse › postsynaptic cell membrane › postsynaptic density

By similarity. 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. Ref.7 Ref.9 Ref.12 Ref.13 Ref.17

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. Ref.15

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. Ref.15

Involvement in disease: 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.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.6 Ref.8 Ref.14

Sequence caution: The sequence BAA32302.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence CAH70955.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI15677.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI17204.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI21886.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI22543.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI23013.1 differs from that shown. Reason: Erroneous gene model prediction.