DISC1

DISC1
Identifiers
Aliases	DISC1, C1orf136, SCZD9, disrupted in schizophrenia 1, DISC1 scaffold protein
External IDs	OMIM: 605210; MGI: 2447658; HomoloGene: 10257; GeneCards: DISC1; OMA:DISC1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	232,041,272 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	125,988,597 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; sural nerve; ; decidua; ; monocyte; ; Achilles tendon; ; blood; ; testicle; ; germinal epithelium; ; gonad; ; granulocyte;
	Top expressed in
	Region II of hippocampus proper; ; CA3 field; ; granular layer of dentate gyrus; ; Region I of hippocampus proper; ; primary oocyte; ; zygote; ; secondary oocyte; ; granular layer; ; Subplate; ; morula;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein-containing complex binding; protein binding; kinesin binding; molecular adaptor activity;
Cellular component	cytoplasm; ciliary basal body; cell body; centrosome; postsynaptic membrane; membrane; kinesin complex; synaptic vesicle; postsynaptic density; plasma membrane; synapse; ciliary base; microtubule organizing center; axon; cell junction; endoplasmic reticulum; mitochondrion; perinuclear region of cytoplasm; dynein complex; microtubule; cytoskeleton; nucleus; cytosol; central region of growth cone; intermediate filament cytoskeleton;
Biological process	positive regulation of neuroblast proliferation; protein localization; regulation of neuron projection development; positive regulation of cell-matrix adhesion; neuron migration; mitochondrial calcium ion homeostasis; response to electrical stimulus; Wnt signaling pathway; nervous system development; multicellular organism development; positive regulation of Wnt signaling pathway; TOR signaling; positive regulation of ubiquitin-dependent protein catabolic process; positive regulation of neuron projection development; regulation of synapse maturation; canonical Wnt signaling pathway; protein localization to centrosome; positive regulation of axon extension; cerebral cortex radially oriented cell migration; cell proliferation in forebrain; pyramidal neuron migration to cerebral cortex; microtubule cytoskeleton organization; regulation of dendritic spine development; regulation of synaptic transmission, glutamatergic; cilium assembly; non-motile cilium assembly; negative regulation of protein binding;
	Sources:Amigo / QuickGO
Orthologs
	27185
	244667
	ENSG00000162946
	ENSMUSG00000043051
	Q9NRI5
	Q811T9
NM_018662; NM_001012957; NM_001012958; NM_001012959; NM_001039383;
	NM_001164537; NM_001164538; NM_001164539; NM_001164540; NM_001164541; NM_001164542; NM_001164544; NM_001164545; NM_001164546; NM_001164547; NM_001164548; NM_001164549; NM_001164550; NM_001164551; NM_001164552; NM_001164553; NM_001164554; NM_001164555; NM_001164556
	NM_170596; NM_174853; NM_174854
NP_001012975; NP_001012976; NP_001012977; NP_001158009; NP_001158010;
	NP_001158011; NP_001158012; NP_001158013; NP_001158014; NP_001158016; NP_001158017; NP_001158018; NP_001158019; NP_001158020; NP_001158021; NP_001158022; NP_001158023; NP_001158024; NP_001158025; NP_001158026; NP_001158027; NP_001158028; NP_061132; NP_001158024.1; NP_001158010.1
	NP_777278; NP_777279
	Wikidata
View/Edit Human	View/Edit Mouse

Disrupted in schizophrenia 1 is a protein that in humans is encoded by the DISC1 gene.^[5] In coordination with a wide array of interacting partners, DISC1 has been shown to participate in the regulation of cell proliferation, differentiation, migration, neuronal axon and dendrite outgrowth, mitochondrial transport, fission and/or fusion, and cell-to-cell adhesion. Several studies have shown that unregulated expression or altered protein structure of DISC1 may predispose individuals to the development of schizophrenia, clinical depression, bipolar disorder, and other psychiatric conditions. The cellular functions that are disrupted by permutations in DISC1, which lead to the development of these disorders, have yet to be clearly defined and are the subject of current ongoing research. Although, recent genetic studies of large schizophrenia cohorts have failed to implicate DISC1 as a risk gene at the gene level,^[6] the DISC1 interactome gene set was associated with schizophrenia, showing evidence from genome-wide association studies of the role of DISC1 and interacting partners in schizophrenia susceptibility.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162946 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000043051 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS, Semple CA, et al. (May 2000). "Disruption of two novel genes by a translocation co-segregating with schizophrenia". Human Molecular Genetics. 9 (9): 1415–1423. doi:10.1093/hmg/9.9.1415. hdl:20.500.11820/debc2b54-6e20-425f-9eab-dcd0c136cc98. PMID 10814723.
^ Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, et al. (April 2016). "Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders". Nature Neuroscience. 19 (4): 571–577. doi:10.1038/nn.4267. PMC 6689268. PMID 26974950.
^ Facal F, Costas J (December 2019). "Evidence of association of the DISC1 interactome gene set with schizophrenia from GWAS". Progress in Neuro-Psychopharmacology & Biological Psychiatry. 95: 109729. doi:10.1016/j.pnpbp.2019.109729. PMID 31398428. S2CID 199518630.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162946 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000043051 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10814723-5] Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS, Semple CA, et al. (May 2000). "Disruption of two novel genes by a translocation co-segregating with schizophrenia". Human Molecular Genetics. 9 (9): 1415–1423. doi:10.1093/hmg/9.9.1415. hdl:20.500.11820/debc2b54-6e20-425f-9eab-dcd0c136cc98. PMID 10814723.

[6] Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, et al. (April 2016). "Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders". Nature Neuroscience. 19 (4): 571–577. doi:10.1038/nn.4267. PMC 6689268. PMID 26974950.

[pmid31398428-7] Facal F, Costas J (December 2019). "Evidence of association of the DISC1 interactome gene set with schizophrenia from GWAS". Progress in Neuro-Psychopharmacology & Biological Psychiatry. 95: 109729. doi:10.1016/j.pnpbp.2019.109729. PMID 31398428. S2CID 199518630.

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