Disc1 disrupted in schizophrenia 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Disc1provided by MGI
Official Full Name: disrupted in schizophrenia 1provided by MGI
Primary source: MGI:MGI:2447658
See related: Ensembl:ENSMUSG00000043051 AllianceGenome:MGI:2447658
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables molecular adaptor activity. Involved in several processes, including TOR signaling; nervous system development; and regulation of synapse maturation. Acts upstream of or within several processes, including mitochondrial calcium ion homeostasis; non-motile cilium assembly; and positive regulation of ubiquitin-dependent protein catabolic process. Located in microtubule organizing center; postsynaptic density; and synaptic vesicle. Is expressed in several structures, including brain; heart; liver; lung; and muscle tissue. Used to study endogenous depression and schizophrenia. Human ortholog(s) of this gene implicated in autism spectrum disorder (multiple); bipolar disorder; chronic fatigue syndrome; major depressive disorder; and psychotic disorder (multiple). Orthologous to human DISC1 (DISC1 scaffold protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 1.0), cortex adult (RPKM 1.0) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E2; 8 73.26 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (125773928..125991882)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (125048767..125265143)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DISC1 inhibits GSK3beta activity to prevent tau hyperphosphorylation under diabetic encephalopathy.
Title: DISC1 inhibits GSK3β activity to prevent tau hyperphosphorylation under diabetic encephalopathy.
Layer-specific impairment in the developing lateral entorhinal cortex of immune-challenged Disc1[+/-] mice.
Title: Layer-specific impairment in the developing lateral entorhinal cortex of immune-challenged Disc1(+/-) mice.
Disrupted in Schizophrenia 1 Regulates Ectopic Neurogenesis in the Mouse Hilus After Pilocarpine-induced Status Epilepticus.
Title: Disrupted in Schizophrenia 1 Regulates Ectopic Neurogenesis in the Mouse Hilus After Pilocarpine-induced Status Epilepticus.
Regulation of sensorimotor gating via Disc1/Huntingtin-mediated Bdnf transport in the cortico-striatal circuit.
Title: Regulation of sensorimotor gating via Disc1/Huntingtin-mediated Bdnf transport in the cortico-striatal circuit.
Polysialylation in a DISC1 Mutant Mouse.
Title: Polysialylation in a DISC1 Mutant Mouse.
Disc1 gene down-regulation impaired synaptic plasticity and recognition memory via disrupting neural activity in mice.
Title: Disc1 gene down-regulation impaired synaptic plasticity and recognition memory via disrupting neural activity in mice.
Diverse risk-avoidance behaviors in DISC1 mice are associated with different neuronal firing patterns in BLA neurons.
Title: Diverse risk-avoidance behaviors in DISC1 mice are associated with different neuronal firing patterns in BLA neurons.
Peculiarities of the Composition of Peripheral Immune Cells and Cytokine Profile in Brain Structures in Mutant DISC1-L100P Mice.
Title: Peculiarities of the Composition of Peripheral Immune Cells and Cytokine Profile in Brain Structures in Mutant DISC1-L100P Mice.
Knock-Down of Hippocampal DISC1 in Immune-Challenged Mice Impairs the Prefrontal-Hippocampal Coupling and the Cognitive Performance Throughout Development.
Title: Knock-Down of Hippocampal DISC1 in Immune-Challenged Mice Impairs the Prefrontal-Hippocampal Coupling and the Cognitive Performance Throughout Development.
Characterization of striatal phenotypes in heterozygous Disc1 mutant mice, a model of haploinsufficiency.
Title: Characterization of striatal phenotypes in heterozygous Disc1 mutant mice, a model of haploinsufficiency.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Targeted (7) 1 citation
Chemically induced (ENU) (5) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tsnax (e-PCR), detects polymorphism
- UniSTS:164703

D8Mit278 (e-PCR), detects polymorphism
- UniSTS:131489

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinesin binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell proliferation in forebrain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebral cortex radially oriented cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within detection of temperature stimulus involved in sensory perception of pain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitochondrial calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron migration	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuroblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to centrosome	ISO Inferred from Sequence Orthology more info
involved_in pyramidal neuron migration to cerebral cortex	ISO Inferred from Sequence Orthology more info
involved_in regulation of dendritic spine development	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynapse organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synapse maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of synaptic transmission, glutamatergic	ISO Inferred from Sequence Orthology more info
acts_upstream_of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cell body	ISO Inferred from Sequence Orthology more info
located_in central region of growth cone	ISO Inferred from Sequence Orthology more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary base	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of dynein complex	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
part_of kinesin complex	ISO Inferred from Sequence Orthology more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info
located_in synapse	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: disrupted in schizophrenia 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_174853.3 → NP_777278.2 disrupted in schizophrenia 1 homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame segment in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.

Source sequence(s)

AC122265, AL672234, AL731650

Consensus CDS

CCDS40517.1

UniProtKB/TrEMBL

Z4YLG9

Related

ENSMUSP00000112757.2, ENSMUST00000117658.8

Conserved Domains (1) summary

cd00890
Location:455 → 560

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
NM_174854.2 → NP_777279.2 disrupted in schizophrenia 1 homolog isoform 1

See identical proteins and their annotated locations for NP_777279.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longer transcript and it encodes the longer protein (isoform 1).

Source sequence(s)

AJ506179, AL672234, AL731650, AY177673

Consensus CDS

CCDS52707.1

UniProtKB/Swiss-Prot

Q7TQ21, Q811T9, Q8CF87, Q8CF88, Q8CHP1, Q8CHP2

UniProtKB/TrEMBL

D3YYC9

Related

ENSMUSP00000095914.5, ENSMUST00000098311.11

Conserved Domains (1) summary

COG1196
Location:329 → 620

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

125773928..125991882

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011248388.4 → XP_011246690.1 disrupted in schizophrenia 1 homolog isoform X2

See identical proteins and their annotated locations for XP_011246690.1

UniProtKB/Swiss-Prot

Q7TQ21, Q811T9, Q8CF87, Q8CF88, Q8CHP1, Q8CHP2

UniProtKB/TrEMBL

D3YYC9

Related

ENSMUSP00000112410.2, ENSMUST00000118942.8

Conserved Domains (1) summary

COG1196
Location:329 → 620

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_011248387.4 → XP_011246689.1 disrupted in schizophrenia 1 homolog isoform X1

UniProtKB/TrEMBL

D3YYC9

Conserved Domains (1) summary

COG1196
Location:340 → 631

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RNA

XR_004934825.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_170596.1: Suppressed sequence

Description

NM_170596.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.