Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



DISC1 Gene

protein-coding   GIFtS: 60
GCID: GC01P231762

Disrupted In Schizophrenia 1

  See DISC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Disrupted In Schizophrenia 11 2
SCZD92 5
C1orf1362
Disrupted In Schizophrenia 1 Protein2
KIAA04573

External Ids:    HGNC: 28881   Entrez Gene: 271852   Ensembl: ENSG000001629467   OMIM: 6052105   UniProtKB: Q9NRI53   

Export aliases for DISC1 gene to outside databases

Previous GC identifers: GC01P230208 GC01P227502 GC01P228235 GC01P228797 GC01P228069 GC01P229829 GC01P202246


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 schizoaffective disorder, and schizophrenia.

UniProtKB/Swiss-Prot: DISC1_HUMAN, Q9NRI5
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

Gene Wiki entry for DISC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_167186.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DISC1 gene promoter:
         CREB   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDISC1 promoter sequence
   Search Chromatin IP Primers for DISC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DISC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42.1   Ensembl cytogenetic band:  1q42.2   HGNC cytogenetic band: 1q42.1

DISC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DISC1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P231762:  view genomic region     (about GC identifiers)

Start:
231,762,561 bp from pter      End:
232,177,018 bp from pter
Size:
414,458 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for DISC1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: DISC1_HUMAN, Q9NRI5 (See protein sequence)
Recommended Name: Disrupted in schizophrenia 1 protein  
Size: 854 amino acids; 93611 Da
Subunit: 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
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
Sequence caution: Sequence=BAA32302.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAH70955.1; Type=Erroneous gene model prediction; Sequence=CAI15677.1; Type=Erroneous gene model
prediction; Sequence=CAI17204.1; Type=Erroneous gene model prediction; Sequence=CAI21886.1; Type=Erroneous gene
model prediction; Sequence=CAI22543.1; Type=Erroneous gene model prediction; Sequence=CAI23013.1; Type=Erroneous
gene model prediction;
Secondary accessions: A6NLH2 C4P091 C4P095 C4P0A1 C4P0A3 C4P0B3 C4P0B6 C4P0C1 C9J6D0 O75045
Q5VT44 Q5VT45 Q8IXJ0 Q8IXJ1 Q9BX19 Q9NRI3 Q9NRI4
Alternative splicing: 11 isoforms:  Q9NRI5-1   Q9NRI5-2   Q9NRI5-3   Q9NRI5-4   Q9NRI5-5   Q9NRI5-6   Q9NRI5-7   Q9NRI5-8   
Q9NRI5-9   Q9NRI5-10   Q9NRI5-11   

Explore the universe of human proteins at neXtProt for DISC1: NX_Q9NRI5

Explore proteomics data for DISC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DISC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (23 alternative transcripts): 
    NP_001012975.1  NP_001012976.1  NP_001012977.1  NP_001158009.1  NP_001158010.1  NP_001158011.1  NP_001158012.1  NP_001158013.1  
    NP_001158014.1  NP_001158016.1  NP_001158017.1  NP_001158018.1  NP_001158019.1  NP_001158020.1  NP_001158021.1  NP_001158022.1  
    NP_001158023.1  NP_001158024.1  NP_001158025.1  NP_001158026.1  NP_001158027.1  NP_001158028.1  NP_061132.2  

    ENSEMBL proteins: 
     ENSP00000320784   ENSP00000473386   ENSP00000473417   ENSP00000473586   ENSP00000441193  
     ENSP00000440953   ENSP00000295051   ENSP00000473425   ENSP00000355593   ENSP00000355592  
     ENSP00000473261   ENSP00000355596   ENSP00000355597   ENSP00000403888   ENSP00000415147  
     ENSP00000443996   ENSP00000440909  

    DISC1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for DISC1
    OriGene Protein Over-expression Lysate for DISC1
    OriGene MassSpec for DISC1
    OriGene Custom Protein Services for DISC1
    GenScript Custom Purified and Recombinant Proteins Services for DISC1
    Novus Biologicals DISC1 Proteins
    Novus Biologicals DISC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DISC1

     
    Search eBioscience for Proteins for DISC1 

    DISC1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DISC1
    R&D Systems Antibodies for DISC1
    OriGene Antibodies for DISC1
    OriGene Custom Antibody Services for DISC1
    Novus Biologicals DISC1 Antibodies
    Abcam antibodies for DISC1
    Cloud-Clone Corp. Antibodies for DISC1
    ThermoFisher Antibodies for DISC1
    LSBio Antibodies in human, mouse, rat for DISC1

    DISC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DISC1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DISC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DISC1
    Cloud-Clone Corp. CLIAs for DISC1
    Search eBioscience for ELISAs for DISC1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR026081 DISC1
     IPR009053 Prefoldin

    Graphical View of Domain Structure for InterPro Entry Q9NRI5

    ProtoNet protein and cluster: Q9NRI5


    Find genes that share domains with DISC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DISC1_HUMAN, Q9NRI5
    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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12812986
         
    Find genes that share ontologies with DISC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DISC1:
     Increased cell number in G1, s 

         3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Disc1):
     behavior/neurological  homeostasis/metabolism  nervous system 

    Find genes that share phenotypes with DISC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Disc1tm1Kara for DISC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DISC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DISC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DISC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DISC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target DISC1:
    hsa-mir-124-3p (MIRT023117)

    Block miRNA regulation of human, mouse, rat DISC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DISC1 (see all 13):
    hsa-miR-2052 hsa-miR-185* hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-548o hsa-miR-103a hsa-miR-3667-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DISC1
    Predesigned siRNA for gene silencing in human, mouse, rat DISC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DISC1

    Clone
    Products:
         
    OriGene clones in human, mouse for DISC1 (see all 126)
    OriGene ORF clones in mouse, rat for DISC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 23): DISC1 (NM_001164550)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DISC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DISC1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DISC1
    Browse ESI BIO Cell Lines and PureStem Progenitors for DISC1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DISC1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-12751) for DISC1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    DISC1_HUMAN, Q9NRI5: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    mitochondrion5
    nucleus3
    plasma membrane3
    cytosol1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005813centrosome IDA18955030
    GO:0005874microtubule IEA--
    GO:0014069postsynaptic density IEA--
    GO:0030054cell junction IEA--

    Find genes that share ontologies with DISC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DISC1
    Interactions:

        GeneGlobe Interaction Network for DISC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DISC1 (Q9NRI51, 3 ENSP000003555964) via UniProtKB, MINT, STRING, and/or I2D (see all 151)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDEL1Q9GZM81, 3, ENSP000003339824EBI-529989,EBI-928842 I2D: score=5 STRING: ENSP00000333982
    ITSN1Q158111, 3, ENSP000003707194EBI-529989,EBI-602041 I2D: score=4 STRING: ENSP00000370719
    MAP1AP785591, 3, ENSP000003002314EBI-529989,EBI-929047 I2D: score=4 STRING: ENSP00000300231
    RANBP9Q96S591, 3, ENSP000000116194EBI-529989,EBI-636085 I2D: score=4 STRING: ENSP00000011619
    ACTN2P356091, 3, ENSP000003555374EBI-529989,EBI-77797 I2D: score=3 STRING: ENSP00000355537
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IMP18955030
    GO:0001764neuron migration IMP19502360
    GO:0002052positive regulation of neuroblast proliferation IGI19303846
    GO:0008104protein localization IEA--
    GO:0010975regulation of neuron projection development IEA--

    Find genes that share ontologies with DISC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DISC1

    2 Novoseek inferred chemical compound relationships for DISC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclic amp 0 2 17185511 (1)
    dopamine 0 1 18988532 (1)



    Find genes that share compounds with DISC1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for DISC1 gene (24 alternative transcripts): 
    NM_001012957.1  NM_001012958.1  NM_001012959.1  NM_001164537.1  NM_001164538.1  NM_001164539.1  NM_001164540.1  NM_001164541.1  
    NM_001164542.1  NM_001164544.1  NM_001164545.1  NM_001164546.1  NM_001164547.1  NM_001164548.1  NM_001164549.1  NM_001164550.1  
    NM_001164551.1  NM_001164552.1  NM_001164553.1  NM_001164554.1  NM_001164555.1  NM_001164556.1  NM_018662.2  NM_001039383.1  

    Unigene Cluster for DISC1:

    Disrupted in schizophrenia 1
    Hs.13318  [show with all ESTs]
    Unigene Representative Sequence: NR_028393
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000317586(uc001hvc.3 uc010pwn.1 uc021pkn.1 uc001hux.1)
    ENST00000602873 ENST00000602700 ENST00000602822 ENST00000535944(uc010pwj.1 uc010pwg.1 uc010pwh.1 uc010pwi.1 uc010pwr.1)
    ENST00000539444(uc010pwk.1 uc010pws.1 uc010pwt.1 uc010pwu.1)
    ENST00000295051 ENST00000602281 ENST00000366633(uc010pww.2 uc010pwv.2 uc010pwx.2)
    ENST00000366632 ENST00000602713 ENST00000366636(uc010pwf.2 uc010pwp.2 uc010pwo.2 uc010pwq.2 uc001huy.3 uc010pwy.2 uc010pwz.2 uc010pxa.2)
    ENST00000366637(uc010pxb.1 uc010pxj.1) ENST00000439617(uc010pxn.1 uc010pxk.1 uc010pxi.1 uc010pxl.1 uc010pwl.2 uc010pxm.2 uc010pxh.2 uc001huz.3 uc001hva.3)
    ENST00000422590 ENST00000468399(uc010pwe.2 uc010pwm.2) ENST00000602600
    ENST00000427560
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DISC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DISC1 (see all 13):
    hsa-miR-2052 hsa-miR-185* hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-548o hsa-miR-103a hsa-miR-3667-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DISC1
    Predesigned siRNA for gene silencing in human, mouse, rat DISC1
    Clone
    Products:
         
    OriGene clones in human, mouse for DISC1 (see all 126)
    OriGene ORF clones in mouse, rat for DISC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 23): DISC1 (NM_001164550)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DISC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DISC1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DISC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DISC1
      QuantiTect SYBR Green Assays in human, mouse, rat DISC1
      QuantiFast Probe-based Assays in human, mouse, rat DISC1
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-12751) for DISC1 

    Additional mRNA sequence: 

    AB007926.1 AF222980.1 AF230315.1 AF230316.1 AJ506177.1 AJ506178.1 AK025293.1 AK096457.1 
    AK313068.1 BC010376.1 BC011797.1 BC038954.1 BC142622.1 BC151225.1 FJ804177.1 FJ804179.1 
    FJ804181.1 FJ804184.1 FJ804186.1 FJ804187.1 FJ804190.1 FJ804196.1 FJ804199.1 FJ804202.1 
    FJ804204.1 FJ804205.1 FJ804207.1 FJ804211.1 FJ804212.1 FJ804213.1 FJ804214.1 FJ804215.1 
    FJ804216.1 NR_028393.1 NR_028394.1 NR_028395.1 NR_028396.1 NR_028397.1 NR_028398.1 NR_028399.1 
    NR_028400.1 X95073.1 

    16 DOTS entries:

    DT.413332  DT.100814478  DT.91852155  DT.86838326  DT.97821382  DT.100012621  DT.95095719  DT.100012622 
    DT.121341967  DT.121341982  DT.95142734  DT.121341956  DT.75150196  DT.75177647  DT.95157938  DT.95157992 

    Selected AceView cDNA sequences (see all 56):

    N46527 AA418180 BM727584 AJ506177 BM719595 AA639507 AB007926 AK023443 
    Z38313 NM_018662 AI075754 AJ506178 CB152142 AF222980 BM714331 BX353852 
    AU135014 AA417929 BX409896 AV720739 AL049973 AI923903 BE669796 BF477586 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DISC1 (see all 6)    About this scheme

    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:              -     -                 -     -                                                                                 


    ECgene alternative splicing isoforms for DISC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    DISC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTAGTAAAA
    DISC1 Expression
    About this image


    DISC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Telencephalon
    DISC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DISC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.13318

    UniProtKB/Swiss-Prot: DISC1_HUMAN, Q9NRI5
    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

        Custom PCR Arrays for DISC1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DISC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DISC1
    QuantiTect SYBR Green Assays in human, mouse, rat DISC1
    QuantiFast Probe-based Assays in human, mouse, rat DISC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DISC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for DISC1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Disc11 , 5 disrupted in schizophrenia 11, 5 70.53(n)1
    58.73(a)1
      8 (73.26 cM)5
    2446671  NM_174854.21  NP_777279.21 
     1250541955 
    chicken
    (Gallus gallus)
    Aves DISC11 disrupted in schizophrenia 1 59.18(n)
    49.4(a)
      100859633  XM_003640955.2  XP_003641003.2 
    lizard
    (Anolis carolinensis)
    Reptilia DISC16
    disrupted in schizophrenia 1
    47(a)
    1 ↔ 1
    1(221588263-221665269)
    zebrafish
    (Danio rerio)
    Actinopterygii disc16
    disrupted in schizophrenia 1
    17(a)
    1 ↔ 1
    13(50035365-50123165) ENSDARG00000021895


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for DISC1 gene
    6 SIMAP similar genes for DISC1 using alignment to 27 protein entries:     DISC1_HUMAN (see all proteins):
    DKFZp686G1650    TRAX    TSNAX    DNAPTP3    OK/SW-cl.41    FP6651

    Find genes that share paralogs with DISC1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for DISC1 (see all 9706)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37384011,2,,4
    C,F,Huntested1238614931(+) CTCTCG/AGCCCT 45 /Q /R mis1 int1 ese329Minor allele frequency- A:0.25EA NA NS CSA WA EU 9850
    rs66752811,2,,4
    C,F,Huntested1238738974(+) AAGACC/TTCACC 26 L F T int1 ut31 mis1 syn1 ese327Minor allele frequency- T:0.13NA NS EA WA CSA EU 8398
    rs774148371,2
    F--202276379(+) AATGCC/TGCAAT 23 -- int11Minor allele frequency- T:0.33NA 6
    rs795918951,2
    C--202276513(+) TTCCAC/TAATGA 23 -- int10--------
    rs773052001,2
    F--202276533(+) TTTACA/CGTCCC 23 -- int11Minor allele frequency- C:0.33NA 6
    rs761684871,2
    F--202276534(+) TTACAG/ATCCCA 23 -- int11Minor allele frequency- A:0.33NA 6
    rs1415990331,2
    C--202332951(+) AGGAG-/ATATATA 22 -- int10--------
    rs113496931,2
    C,F--202342494(+) TATTGA/-AAAAA 22 -- int1 ut31 trp32Minor allele frequency- -:0.50NA CSA 4
    rs725195451,2
    C--202352170(+) GTGGCAGT/-GGTGG 36 -- int1 cds11Minor allele frequency- -:0.50CSA 2
    rs1411339311,2
    C--202352170(+) GTGGC-/AGTGGTGG 18 -- int10--------

    HapMap Linkage Disequilibrium report for DISC1 (231762561 - 232012561 bp, first 250kb of DISC1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DISC1 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724894CNV Deletion23290073
    esv2657352CNV Deletion23128226
    esv2724917CNV Deletion23290073
    esv2668388CNV Deletion23128226
    esv2724905CNV Deletion23290073
    esv2724883CNV Deletion23290073
    esv2661657CNV Deletion23128226
    esv2672018CNV Deletion23128226
    esv994187CNV Insertion20482838
    esv271157CNV Insertion20981092

    Human Gene Mutation Database (HGMD): DISC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DISC1
    DNA2.0 Custom Variant and Variant Library Synthesis for DISC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 605210   
    OMIM disorders: 604906  181500  
    UniProtKB/Swiss-Prot: DISC1_HUMAN, Q9NRI5
  • 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. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry

  • 3 diseases for DISC1:    
    About MalaCards
    schizoaffective disorder    schizophrenia    endogenous depression

    6 diseases from the University of Copenhagen DISEASES database for DISC1:
    Schizophrenia     Schizoaffective disorder     Lissencephaly     Endogenous depression
    Asperger syndrome     Autistic disorder

    Find genes that share disorders with DISC1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DISC1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 85.7 279 16510495 (7), 18818052 (6), 17286247 (5), 17117617 (5) (see all 99)
    bipolar disorder 78.7 32 16814263 (4), 15838535 (3), 18180429 (2), 17346882 (2) (see all 23)
    lissencephaly sequence, isolated 68.6 2 16510495 (1), 17117617 (1)
    psychiatric disorder 67 46 18270998 (3), 17912248 (3), 17481393 (2), 19300510 (2) (see all 29)
    psychotic 62.2 9 17673452 (4), 11525420 (1), 16959794 (1), 20227423 (1) (see all 6)
    schizoaffective disorder 61.6 7 16203953 (2), 15386212 (1), 16056147 (1), 15184103 (1) (see all 5)
    mood disorders 58.4 11 18400883 (2), 15797709 (1), 17258902 (1), 18075479 (1) (see all 9)
    major depression 56.2 11 15657124 (1), 19303846 (1), 19760522 (1), 15184103 (1) (see all 11)
    genetic susceptibility 47.5 6 20188653 (1), 17286247 (1), 16319375 (1), 17912248 (1)
    cognitive deficit 43.3 5 17043677 (2), 16603474 (1), 18497105 (1), 17258902 (1)

    Genetic Association Database (GAD): DISC1
    Human Genome Epidemiology (HuGE) Navigator: DISC1 (80 documents)

    Export disorders for DISC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for DISC1 gene, integrated from 10 sources (see all 250):
    (articles sorted by number of sources associating them with DISC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder. (PubMed id 15386212)1, 2, 4, 9 Hodgkinson C.A.... Malhotra A.K. (Am. J. Hum. Genet. 2004)
    2. DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms. (PubMed id 19805229)1, 2, 4 Nakata K.... Kleinman J.E. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    3. Disruption of two novel genes by a schizophrenia-linked translocation. (PubMed id 10814723)1, 2, 3 Millar J.K....Porteous D.J. (Hum. Mol. Genet. 2000)
    4. Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site. (PubMed id 15797709)1, 2, 9 Brandon N.J....Whiting P.J. (Mol. Cell. Neurosci. 2005)
    5. DISC1-NDEL1/NUDEL protein interaction, an essential component for neurite outgrowth, is modulated by genetic variations of DISC1. (PubMed id 17035248)1, 2, 9 Kamiya A.... Sawa A. (Hum. Mol. Genet. 2006)
    6. Elucidating the relationship between DISC1, NDEL1 and NDE1 and the risk for schizophrenia: evidence of epistasis and competitive binding. (PubMed id 18469341)1, 4, 9 Burdick K.E....Malhotra A.K. (Hum. Mol. Genet. 2008)
    7. Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. (PubMed id 16510495)1, 2, 9 Lipska B.K.... Kleinman J.E. (Hum. Mol. Genet. 2006)
    8. Association of DISC1 with autism and Asperger syndrome. (PubMed id 17579608)1, 4, 9 Kilpinen H....Peltonen L. (Mol. Psychiatry 2008)
    9. Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling. (PubMed id 19303846)1, 2, 9 Mao Y.... Tsai L.H. (Cell 2009)
    10. Association study of polymorphisms between DISC1 and schizophrenia in a Korean population. (PubMed id 17997036)1, 4, 9 Kim H.J....Chung J.H. (Neurosci. Lett. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 27185 HGNC: 2888 AceView: DISC1 Ensembl:ENSG00000162946 euGenes: HUgn27185
    ECgene: DISC1 H-InvDB: DISC1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0457

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for DISC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for DISC1 gene:
    Search GeneIP for patents involving DISC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of DISC1
     
     EMD Millipore genomic analysis products

      
     Antibodies for DISC1 (DISC1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for DISC1   OriGene RNAi products in human, mouse, rat for DISC1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for DISC1  
     OriGene MassSpec something-or-other for DISC1   OriGene clones in human, mouse for DISC1  
     OriGene qSTAR qPCR primer pairs in human, mouse for DISC1   OriGene Purified Protein for DISC1  
     OriGene ORF clones in mouse, rat for DISC1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DISC1   OriGene Custom Protein Services for DISC1  

     
     
     Block miRNA regulation of human, mouse, rat DISC1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DISC1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DISC1 Predesigned siRNA for gene silencing in human, mouse, rat DISC1
     QuantiFast Probe-based Assays in human, mouse, rat DISC1 QuantiTect SYBR Green Assays in human, mouse, rat DISC1
     Custom PCR Arrays for DISC1 Search Chromatin IP Primers for DISC1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DISC1  GeneGlobe Interaction Network for DISC1
     Regulatory tfbs in DISC1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for DISC1 GenScript cDNA clones with any tag delivered in your preferred vector for DISC1
     GenScript Custom Assay Services for DISC1 GenScript Custom overexpressing Cell Line Services for DISC1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for DISC1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     DISC1 antibodies
     DISC1 proteins
     DISC1 lysates
     Antibodies for DISC1
     See all of Abcam's Antibodies, Kits and Proteins for DISC1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for DISC1
     Antibodies for DISC1
     ELISAs for DISC1
     CLIAs for DISC1



     Browse ESI BIO Cell Lines and PureStem Progenitors for DISC1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DISC1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for DISC1
     SwitchGear Promoter luciferase reporter plasmids for DISC1
     ThermoFisher Antibodies for DISC1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DISC1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DISC1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DISC1
     LSBio Antibodies in human, mouse, rat for DISC1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for DISC1
      Search eBioscience for proteins for DISC1
      Search eBioscience for elisas for DISC1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DISC1 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4