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Aliases for DISC1 Gene

Aliases for DISC1 Gene

  • Disrupted In Schizophrenia 1 2 3 5
  • C1orf136 3
  • KIAA0457 4
  • SCZD9 3

External Ids for DISC1 Gene

Previous GeneCards Identifiers for DISC1 Gene

  • GC01P230208
  • GC01P227502
  • GC01P228235
  • GC01P228797
  • GC01P228069
  • GC01P229829
  • GC01P231762
  • GC01P202246

Summaries for DISC1 Gene

Entrez Gene Summary for DISC1 Gene

  • 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]

GeneCards Summary for DISC1 Gene

DISC1 (Disrupted In Schizophrenia 1) is a Protein Coding gene. Diseases associated with DISC1 include schizophrenia and psychotic disorder.

UniProtKB/Swiss-Prot for DISC1 Gene

  • 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.

Gene Wiki entry for DISC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DISC1 Gene

Genomics for DISC1 Gene

Regulatory Elements for DISC1 Gene

Promoters for DISC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DISC1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the DISC1 gene promoter:

Genomic Location for DISC1 Gene

Chromosome:
1
Start:
231,626,815 bp from pter
End:
232,041,272 bp from pter
Size:
414,458 bases
Orientation:
Plus strand

Genomic View for DISC1 Gene

Genes around DISC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DISC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DISC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DISC1 Gene

Proteins for DISC1 Gene

  • Protein details for DISC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRI5-DISC1_HUMAN
    Recommended name:
    Disrupted in schizophrenia 1 protein
    Protein Accession:
    Q9NRI5
    Secondary Accessions:
    • A6NLH2
    • C4P091
    • C4P095
    • C4P0A1
    • C4P0A3
    • C4P0B3
    • C4P0B6
    • C4P0C1
    • C9J6D0
    • O75045
    • Q5VT44
    • Q5VT45
    • Q8IXJ0
    • Q8IXJ1
    • Q9BX19
    • Q9NRI3
    • Q9NRI4

    Protein attributes for DISC1 Gene

    Size:
    854 amino acids
    Molecular mass:
    93611 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • 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};

    Alternative splice isoforms for DISC1 Gene

  • Protein details for DISC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    C4P0D8
    Recommended name:
    Disrupted in schizophrenia 1 isoform 51
    Protein Accession:
    C4P0D8

    Protein attributes for DISC1 Gene

    Size:
    188 amino acids
    Molecular mass:
    21477 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DISC1 Gene

Proteomics data for DISC1 Gene at MOPED

Post-translational modifications for DISC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cloud-Clone Corp. Antibodies for DISC1

No data available for DME Specific Peptides for DISC1 Gene

Domains & Families for DISC1 Gene

Protein Domains for DISC1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DISC1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for DISC1 Gene

Function for DISC1 Gene

Molecular function for DISC1 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with DISC1: view

Animal Models for DISC1 Gene

MGI Knock Outs for DISC1:
  • Disc1 tm1Kara
  • Disc1 tm1(DISC1/DISC1FP1,DISC1FP1/DISC1)Xzho

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DISC1 Gene

Localization for DISC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DISC1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DISC1 Gene COMPARTMENTS Subcellular localization image for DISC1 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 4
plasma membrane 3
endoplasmic reticulum 2
cytosol 1

Gene Ontology (GO) - Cellular Components for DISC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20880836
GO:0005871 kinesin complex IEA --
GO:0036064 ciliary basal body IEA --
GO:0044297 cell body IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with DISC1: view

Pathways & Interactions for DISC1 Gene

SuperPathways for DISC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DISC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 18955030
GO:0001764 neuron migration IMP 19502360
GO:0001954 positive regulation of cell-matrix adhesion IEA --
GO:0007399 nervous system development IEA --
GO:0008104 protein localization IEA --
genes like me logo Genes that share ontologies with DISC1: view

No data available for Pathways by source and SIGNOR curated interactions for DISC1 Gene

Drugs & Compounds for DISC1 Gene

(2) Drugs for DISC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DISC1: view

Transcripts for DISC1 Gene

Unigene Clusters for DISC1 Gene

Disrupted in schizophrenia 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DISC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: -
SP5: - - - -
SP6: -

Relevant External Links for DISC1 Gene

GeneLoc Exon Structure for
DISC1
ECgene alternative splicing isoforms for
DISC1

Expression for DISC1 Gene

mRNA expression in normal human tissues for DISC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DISC1 Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for DISC1 Gene

This gene is overexpressed in Plasma (58.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DISC1 Gene



SOURCE GeneReport for Unigene cluster for DISC1 Gene Hs.13318

mRNA Expression by UniProt/SwissProt for DISC1 Gene

Q9NRI5-DISC1_HUMAN
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.
genes like me logo Genes that share expression patterns with DISC1: view

Protein tissue co-expression partners for DISC1 Gene

Primer Products

In Situ Assay Products

Orthologs for DISC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DISC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DISC1 36
  • 95 (a)
OneToOne
DISC1 35
  • 98.43 (n)
  • 97.7 (a)
cow
(Bos Taurus)
Mammalia DISC1 35
  • 83.1 (n)
  • 79.24 (a)
dog
(Canis familiaris)
Mammalia DISC1 35
  • 81.04 (n)
  • 72.59 (a)
DISC1 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Disc1 16
Disc1 36
  • 43 (a)
OneToOne
Disc1 35
  • 70.53 (n)
  • 58.73 (a)
oppossum
(Monodelphis domestica)
Mammalia DISC1 36
  • 38 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Disc1 35
  • 69.83 (n)
  • 57.85 (a)
chicken
(Gallus gallus)
Aves DISC1 35
  • 59.18 (n)
  • 49.4 (a)
DISC1 36
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DISC1 36
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii disc1 36
  • 17 (a)
OneToOne
Species with no ortholog for DISC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DISC1 Gene

ENSEMBL:
Gene Tree for DISC1 (if available)
TreeFam:
Gene Tree for DISC1 (if available)

Paralogs for DISC1 Gene

genes like me logo Genes that share paralogs with DISC1: view

No data available for Paralogs for DISC1 Gene

Variants for DISC1 Gene

Sequence variations from dbSNP and Humsavar for DISC1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_022437 -
VAR_022438 -
VAR_026704 -
VAR_030422 -
VAR_050954 -

Structural Variations from Database of Genomic Variants (DGV) for DISC1 Gene

Variant ID Type Subtype PubMed ID
dgv544n71 CNV Loss 21882294
dgv187e1 CNV Complex 17122850
nsv516935 CNV Gain 19592680
nsv873296 CNV Gain 21882294
nsv8902 CNV Gain 18304495
nsv873297 CNV Loss 21882294
nsv468338 CNV Gain 19166990
dgv188e1 CNV Complex 17122850
nsv4832 CNV Insertion 18451855
dgv545n71 CNV Loss 21882294
nsv873300 CNV Loss 21882294
esv2724883 CNV Deletion 23290073
esv1761772 CNV Insertion 17803354
esv2724894 CNV Deletion 23290073
esv2724905 CNV Deletion 23290073
esv2672018 CNV Deletion 23128226
esv2724917 CNV Deletion 23290073
nsv509646 CNV Insertion 20534489
nsv4843 CNV Insertion 18451855
esv272656 CNV Insertion 20981092
esv271157 CNV Insertion 20981092
esv994187 CNV Insertion 20482838
esv2657352 CNV Deletion 23128226
esv2668388 CNV Deletion 23128226
nsv4855 CNV Insertion 18451855
esv2661657 CNV Deletion 23128226
nsv468382 CNV Loss 19166990
nsv873301 CNV Loss 21882294
nsv827230 CNV Gain 20364138
nsv528452 CNV Loss 19592680

Variation tolerance for DISC1 Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.83; 91.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DISC1 Gene

HapMap Linkage Disequilibrium report
DISC1
Human Gene Mutation Database (HGMD)
DISC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DISC1 Gene

Disorders for DISC1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DISC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • schizophrenia 12
psychotic disorder
  • mental or behavioural disorder
microcephaly-polymicrogyria-corpus callosum agenesis syndrome
bipolar disorder
  • bipolar depression
asperger syndrome
  • asperger disorder
- elite association - COSMIC cancer census association via MalaCards
Search DISC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DISC1_HUMAN
  • 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.
  • 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.

Relevant External Links for DISC1

Genetic Association Database (GAD)
DISC1
Human Genome Epidemiology (HuGE) Navigator
DISC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DISC1
genes like me logo Genes that share disorders with DISC1: view

No data available for Genatlas for DISC1 Gene

Publications for DISC1 Gene

  1. Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder. (PMID: 15386212) Hodgkinson C.A. … Malhotra A.K. (Am. J. Hum. Genet. 2004) 3 4 23 48 67
  2. A functional polymorphism in the disrupted-in schizophrenia 1 gene is associated with chronic fatigue syndrome. (PMID: 20227423) Fukuda S. … Watanabe Y. (Life Sci. 2010) 3 23
  3. The DISC1 Ser704Cys substitution affects centrosomal localization of its binding partner PCM1 in glia in human brain. (PMID: 20360304) Eastwood S.L. … Harrison P.J. (Hum. Mol. Genet. 2010) 3 23
  4. Association of variants in DISC1 with psychosis-related traits in a large population cohort. (PMID: 19188535) Tomppo L. … Ekelund J. (Arch. Gen. Psychiatry 2009) 3 23
  5. The Disrupted-in-Schizophrenia-1 Ser704Cys polymorphism and brain morphology in schizophrenia. (PMID: 19304459) Takahashi T. … Ozaki N. (Psychiatry Res 2009) 3 23

Products for DISC1 Gene

Sources for DISC1 Gene

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