Disc1 DISC1 scaffold protein [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Disc1provided by RGD
Official Full Name: DISC1 scaffold proteinprovided by RGD
Primary source: RGD:631359
See related: EnsemblRapid:ENSRNOG00000019779 AllianceGenome:RGD:631359
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables kinesin binding activity. Involved in several processes, including positive regulation of cell projection organization; protein localization to centrosome; and pyramidal neuron migration to cerebral cortex. Acts upstream of or within regulation of glutamatergic synaptic transmission. Located in several cellular components, including central region of growth cone; microtubule cytoskeleton; and perinuclear region of cytoplasm. Part of dynein complex and kinesin complex. 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: Biased expression in Heart (RPKM 23.4), Spleen (RPKM 20.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 19q12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	19	NC_086037.1 (69911548..70120970)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	19	NC_051354.1 (53014201..53223617)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	19	NC_005118.4 (57818838..58069992)

Chromosome 19 - NC_086037.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Social anhedonia as a Disrupted-in-Schizophrenia 1-dependent phenotype.
Title: Social anhedonia as a Disrupted-in-Schizophrenia 1-dependent phenotype.
Disrupted-in-schizophrenia 1 Protein Misassembly Impairs Cognitive Flexibility and Social Behaviors in a Transgenic Rat Model.
Title: Disrupted-in-schizophrenia 1 Protein Misassembly Impairs Cognitive Flexibility and Social Behaviors in a Transgenic Rat Model.
Progression of behavioral deficits during periadolescent development differs in female and male DISC1 knockout rats.
Title: Progression of behavioral deficits during periadolescent development differs in female and male DISC1 knockout rats.
By combining single cell and neuronal population analyses, we link DISC1 protein pathology with abnormal hippocampal neural coding and network synchrony, and thereby gain a more comprehensive understanding of chronic mental illnesses mechanisms
Title: Disrupted-in-schizophrenia 1 overexpression disrupts hippocampal coding and oscillatory synchronization.
global and sex-specific changes in white matter microstructural integrity and deficits in neurite density as a consequence of the Disc1 svDelta2 genetic variation
Title: Sex-specific deficits in neurite density and white matter integrity are associated with targeted disruption of exon 2 of the Disc1 gene in the rat.
Mutations of the DISC1 gene have been implicated in the molecular intersection of schizophrenia and numerous other major psychiatric illnesses.
Title: Exercise ameliorates deficits in neural microstructure in a Disc1 model of psychiatric illness.
the expression of TRIAD1 and DISC1 change after traumatic brain injury and that their interaction may affect the proliferation and differentiation of neural stem cells.
Title: The expression of TRIAD1 and DISC1 after traumatic brain injury and its influence on NSCs.
evidence of a critical role of DISC1 in drug-induced behavioral neuroadaptations and sheds more light at the shared molecular pathology of drug abuse and other major psychiatric disorders.
Title: DISC1 signaling in cocaine addiction: Towards molecular mechanisms of co-morbidity.
Study found that DISC1 influences APP C-terminal processing and Abeta peptide generation, affects surface expression and internalization of APP in neurons
Title: DISC1 regulates trafficking and processing of APP and Aβ generation.
Study determined the half-life of disrupted in schizophrenia 1 (DISC1). The half-life of DISC1 is diminished under hypoxia stress by increasing protein degradation of DISC1.
Title: Half-life of DISC1 protein and its pathological significance under hypoxia stress.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

d19rat60 (e-PCR)
- UniSTS:121407

BF415610 (e-PCR)
- UniSTS:248932

BI296374 (e-PCR)
- UniSTS:247447

D1S3695 (e-PCR)
- UniSTS:474273

fi45a03.x1 (e-PCR)
- UniSTS:197554

Gene Ontology Provided by RGD

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

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

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

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_175596.3 → NP_783186.2 disrupted in schizophrenia 1 homolog

See identical proteins and their annotated locations for NP_783186.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000019

UniProtKB/TrEMBL

A6KJ31

Related

ENSRNOP00000095161.1, ENSRNOT00000119995.2

Conserved Domains (1) summary

TIGR02168
Location:349 → 621

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086037.1 Reference GRCr8

Range

69911548..70120970

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063278076.1 → XP_063134146.1 disrupted in schizophrenia 1 homolog isoform X2

UniProtKB/TrEMBL

A6KJ31
XM_063278075.1 → XP_063134145.1 disrupted in schizophrenia 1 homolog isoform X1

UniProtKB/TrEMBL

A6KJ31
XM_039097793.2 → XP_038953721.1 disrupted in schizophrenia 1 homolog isoform X4

Conserved Domains (1) summary

TIGR02168
Location:349 → 621

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_063278077.1 → XP_063134147.1 disrupted in schizophrenia 1 homolog isoform X6

UniProtKB/TrEMBL

A6KJ31
XM_063278078.1 → XP_063134148.1 disrupted in schizophrenia 1 homolog isoform X7
XM_039097792.2 → XP_038953720.1 disrupted in schizophrenia 1 homolog isoform X3

UniProtKB/TrEMBL

A6KJ31

Conserved Domains (1) summary

TIGR02168
Location:349 → 621

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_039097794.2 → XP_038953722.1 disrupted in schizophrenia 1 homolog isoform X5

Conserved Domains (1) summary

TIGR02168
Location:349 → 621

SMC_prok_B; chromosome segregation protein SMC, common bacterial type