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Q9NRI5

- DISC1_HUMAN

UniProt

Q9NRI5 - DISC1_HUMAN

Protein

Disrupted in schizophrenia 1 protein

Gene

DISC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 3 (13 Nov 2007)
      Previous versions | rss
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    Functioni

    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.3 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. canonical Wnt signaling pathway Source: Ensembl
    2. cell proliferation in forebrain Source: Ensembl
    3. cerebral cortex radially oriented cell migration Source: Ensembl
    4. microtubule cytoskeleton organization Source: UniProtKB
    5. mitochondrial calcium ion homeostasis Source: Ensembl
    6. neuron migration Source: UniProtKB
    7. positive regulation of neuroblast proliferation Source: UniProtKB
    8. positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: Ensembl
    9. positive regulation of Wnt signaling pathway Source: UniProtKB
    10. protein localization Source: Ensembl
    11. regulation of neuron projection development Source: Ensembl
    12. regulation of synapse maturation Source: Ensembl
    13. TOR signaling Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Neurogenesis, Wnt signaling pathway

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Disrupted in schizophrenia 1 protein
    Gene namesi
    Name:DISC1
    Synonyms:KIAA0457
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2888. DISC1.

    Subcellular locationi

    Cytoplasm. Cytoplasmcytoskeleton. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell junctionsynapsepostsynaptic cell membranepostsynaptic 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.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. centrosome Source: UniProtKB
    3. microtubule Source: UniProtKB-KW
    4. mitochondrion Source: MGI
    5. postsynaptic density Source: UniProtKB-SubCell
    6. postsynaptic membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Microtubule, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi815 – 8151L → P: Impairs interaction with NDEL1; when associated with P-822. 1 Publication
    Mutagenesisi822 – 8221L → P: Impairs interaction with NDEL1; when associated with P-815. 1 Publication

    Keywords - Diseasei

    Schizophrenia

    Organism-specific databases

    MIMi181500. phenotype.
    604906. phenotype.
    Orphaneti3140. Schizophrenia.
    PharmGKBiPA27342.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 854854Disrupted in schizophrenia 1 proteinPRO_0000079916Add
    BLAST

    Proteomic databases

    MaxQBiQ9NRI5.
    PaxDbiQ9NRI5.
    PRIDEiQ9NRI5.

    PTM databases

    PhosphoSiteiQ9NRI5.

    Expressioni

    Tissue specificityi

    Ubiquitous. Highly expressed in the dentate gyrus of the hippocampus. Also expressed in the temporal and parahippocampal cortices and cells of the white matter.1 Publication

    Developmental stagei

    Expression rises within the dentate gyrus and temporal cortex from the neonatal period to infancy, declines markedly in adolescence, and declines further with aging.1 Publication

    Gene expression databases

    ArrayExpressiQ9NRI5.
    BgeeiQ9NRI5.
    GenevestigatoriQ9NRI5.

    Organism-specific databases

    HPAiCAB013016.

    Interactioni

    Subunit structurei

    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.By similarity6 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACTN2P356093EBI-529989,EBI-77797
    ANKHD1Q8IWZ3-16EBI-529989,EBI-1785446
    ATF4P188483EBI-529989,EBI-492498
    ATF5Q9Y2D18EBI-529989,EBI-492509
    ATF7IPQ6VMQ63EBI-529989,EBI-928732
    CCDC141Q6ZP825EBI-529989,EBI-928795
    CEP63Q96MT87EBI-529989,EBI-741977
    CLUP109094EBI-529989,EBI-1104674
    COL6A2P121103EBI-529989,EBI-928749
    DCTN2Q135613EBI-529989,EBI-715074
    DSTQ030015EBI-529989,EBI-310758
    DYNC1H1Q142043EBI-529989,EBI-356015
    EIF3HO153728EBI-529989,EBI-709735
    ITSN1Q158113EBI-529989,EBI-602041
    KIF3AQ9Y4963EBI-529989,EBI-1104844
    MACF1Q9UPN35EBI-529989,EBI-522925
    MAP1AP785593EBI-529989,EBI-929047
    NDEL1Q9GZM813EBI-529989,EBI-928842
    OLFM1Q997843EBI-529989,EBI-1105073
    PCNTO956135EBI-529989,EBI-530012
    RANBP9Q96S596EBI-529989,EBI-636085
    SPTBN1Q010823EBI-529989,EBI-351561
    SPTBN4Q9H2543EBI-529989,EBI-308543
    SYNE1Q8NF916EBI-529989,EBI-928867
    TRAF3IP1Q8TDR010EBI-529989,EBI-928811
    TRIOO759623EBI-529989,EBI-718519

    Protein-protein interaction databases

    BioGridi118061. 112 interactions.
    DIPiDIP-33828N.
    IntActiQ9NRI5. 100 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NRI5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 292292Interaction with MAP1AAdd
    BLAST
    Regioni293 – 696404Interaction with TRAF3IP1Add
    BLAST
    Regioni440 – 597158Required for localization to punctate cytoplasmic fociAdd
    BLAST
    Regioni446 – 854409Necessary and sufficient for interaction with PCNT and localization at the centrosomeAdd
    BLAST
    Regioni598 – 854257Interaction with ATF4 and ATF5Add
    BLAST
    Regioni727 – 854128Interaction with PAFAH1B1Add
    BLAST
    Regioni802 – 83534Interaction with NDEL1Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili366 – 39429Sequence AnalysisAdd
    BLAST
    Coiled coili452 – 50554Sequence AnalysisAdd
    BLAST
    Coiled coili602 – 66665Sequence AnalysisAdd
    BLAST
    Coiled coili802 – 83029Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG76097.
    HOGENOMiHOG000056668.
    HOVERGENiHBG051360.
    KOiK16534.
    OMAiYMRSTAG.
    PhylomeDBiQ9NRI5.
    TreeFamiTF332357.

    Family and domain databases

    InterProiIPR026081. DISC1.
    IPR009053. Prefoldin.
    [Graphical view]
    PANTHERiPTHR14332. PTHR14332. 1 hit.
    SUPFAMiSSF46579. SSF46579. 1 hit.

    Sequences (11)i

    Sequence statusi: Complete.

    This entry describes 11 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist. More than 50 different isoforms are produced in the brain.

    Isoform 1 (identifier: Q9NRI5-1) [UniParc]FASTAAdd to Basket

    Also known as: L

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPGGGPQGAP AAAGGGGVSH RAGSRDCLPP AACFRRRRLA RRPGYMRSST    50
    GPGIGFLSPA VGTLFRFPGG VSGEESHHSE SRARQCGLDS RGLLVRSPVS 100
    KSAAAPTVTS VRGTSAHFGI QLRGGTRLPD RLSWPCGPGS AGWQQEFAAM 150
    DSSETLDASW EAACSDGARR VRAAGSLPSA ELSSNSCSPG CGPEVPPTPP 200
    GSHSAFTSSF SFIRLSLGSA GERGEAEGCP PSREAESHCQ SPQEMGAKAA 250
    SLDGPHEDPR CLSRPFSLLA TRVSADLAQA ARNSSRPERD MHSLPDMDPG 300
    SSSSLDPSLA GCGGDGSSGS GDAHSWDTLL RKWEPVLRDC LLRNRRQMEV 350
    ISLRLKLQKL QEDAVENDDY DKAETLQQRL EDLEQEKISL HFQLPSRQPA 400
    LSSFLGHLAA QVQAALRRGA TQQASGDDTH TPLRMEPRLL EPTAQDSLHV 450
    SITRRDWLLQ EKQQLQKEIE ALQARMFVLE AKDQQLRREI EEQEQQLQWQ 500
    GCDLTPLVGQ LSLGQLQEVS KALQDTLASA GQIPFHAEPP ETIRSLQERI 550
    KSLNLSLKEI TTKVCMSEKF CSTLRKKVND IETQLPALLE AKMHAISGNH 600
    FWTAKDLTEE IRSLTSEREG LEGLLSKLLV LSSRNVKKLG SVKEDYNRLR 650
    REVEHQETAY ETSVKENTMK YMETLKNKLC SCKCPLLGKV WEADLEACRL 700
    LIQSLQLQEA RGSLSVEDER QMDDLEGAAP PIPPRLHSED KRKTPLKVLE 750
    EWKTHLIPSL HCAGGEQKEE SYILSAELGE KCEDIGKKLL YLEDQLHTAI 800
    HSHDEDLIQS LRRELQMVKE TLQAMILQLQ PAKEAGEREA AASCMTAGVH 850
    EAQA 854
    Length:854
    Mass (Da):93,611
    Last modified:November 13, 2007 - v3
    Checksum:i63C3FDF2F59830C6
    GO
    Isoform 2 (identifier: Q9NRI5-2) [UniParc]FASTAAdd to Basket

    Also known as: LV

    The sequence of this isoform differs from the canonical sequence as follows:
         748-769: Missing.

    Show »
    Length:832
    Mass (Da):91,124
    Checksum:iD114C31463B18770
    GO
    Isoform 3 (identifier: Q9NRI5-3) [UniParc]FASTAAdd to Basket

    Also known as: S

    The sequence of this isoform differs from the canonical sequence as follows:
         661-678: ETSVKENTMKYMETLKNK → GYKYCDAESWTQRSQQLA
         679-854: Missing.

    Show »
    Length:678
    Mass (Da):73,916
    Checksum:iF2E931A9DB718741
    GO
    Isoform 4 (identifier: Q9NRI5-4) [UniParc]FASTAAdd to Basket

    Also known as: ES

    The sequence of this isoform differs from the canonical sequence as follows:
         350-369: VISLRLKLQKLQEDAVENDD → LEPIALDPPWKPRHPEPNSY
         370-854: Missing.

    Show »
    Length:369
    Mass (Da):38,585
    Checksum:i615ECB993C80B9CB
    GO
    Isoform 5 (identifier: Q9NRI5-5) [UniParc]FASTAAdd to Basket

    Also known as: 26

    The sequence of this isoform differs from the canonical sequence as follows:
         661-854: ETSVKENTMK...MTAGVHEAQA → DGVSLCRPVW...DMSHCAWPLQ

    Show »
    Length:755
    Mass (Da):82,262
    Checksum:iCC0C711A6F09B5CF
    GO
    Isoform 6 (identifier: Q9NRI5-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         564-579: VCMSEKFCSTLRKKVN → ETISGRLKTSPRRLDH
         580-854: Missing.

    Show »
    Length:579
    Mass (Da):62,517
    Checksum:iA19C09EBDE0DD5E7
    GO
    Isoform 7 (identifier: Q9NRI5-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         545-559: SLQERIKSLNLSLKE → RNKCEGKYYEVHGNT
         560-579: Missing.
         580-854: Missing.

    Show »
    Length:559
    Mass (Da):60,265
    Checksum:i67B5E9B8316676B5
    GO
    Isoform 8 (identifier: Q9NRI5-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         661-695: ETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADL → AASVHCLGKCGKLTWKLVDCLSRAYSSRKPGEACL
         696-854: Missing.

    Show »
    Length:695
    Mass (Da):75,534
    Checksum:iFDB43855DAF36864
    GO
    Isoform 9 (identifier: Q9NRI5-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         661-662: ET → GR
         663-854: Missing.

    Show »
    Length:662
    Mass (Da):72,013
    Checksum:iD57BF408785D3455
    GO
    Isoform 10 (identifier: Q9NRI5-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         350-356: VISLRLK → LRRYNKD
         357-854: Missing.

    Show »
    Length:356
    Mass (Da):37,192
    Checksum:i29A0A4398A13A2C9
    GO
    Isoform 11 (identifier: Q9NRI5-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         23-372: Missing.
         545-551: SLQERIK → RKPFLDG
         552-854: Missing.

    Show »
    Length:201
    Mass (Da):22,198
    Checksum:i3981B6600BD44101
    GO

    Sequence cautioni

    The sequence BAA32302.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence CAH70955.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI15677.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI17204.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI21886.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI22543.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI23013.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51G → V.1 Publication
    Corresponds to variant rs3738400 [ dbSNP | Ensembl ].
    VAR_030422
    Natural varianti116 – 1161A → V.
    Corresponds to variant rs56020408 [ dbSNP | Ensembl ].
    VAR_061642
    Natural varianti264 – 2641R → Q.3 Publications
    Corresponds to variant rs3738401 [ dbSNP | Ensembl ].
    VAR_022437
    Natural varianti328 – 3281T → N.
    Corresponds to variant rs55795950 [ dbSNP | Ensembl ].
    VAR_061643
    Natural varianti330 – 3301L → F.
    Corresponds to variant rs34622148 [ dbSNP | Ensembl ].
    VAR_050954
    Natural varianti531 – 5311G → R.
    Corresponds to variant rs56229136 [ dbSNP | Ensembl ].
    VAR_061644
    Natural varianti607 – 6071L → F Associated with susceptibility to schizoaffective disorder. 1 Publication
    Corresponds to variant rs6675281 [ dbSNP | Ensembl ].
    VAR_026704
    Natural varianti704 – 7041S → C.2 Publications
    Corresponds to variant rs821616 [ dbSNP | Ensembl ].
    VAR_022438

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei23 – 372350Missing in isoform 11. 1 PublicationVSP_047525Add
    BLAST
    Alternative sequencei350 – 36920VISLR…VENDD → LEPIALDPPWKPRHPEPNSY in isoform 4. 1 PublicationVSP_019314Add
    BLAST
    Alternative sequencei350 – 3567VISLRLK → LRRYNKD in isoform 10. 1 PublicationVSP_047526
    Alternative sequencei357 – 854498Missing in isoform 10. 1 PublicationVSP_047527Add
    BLAST
    Alternative sequencei370 – 854485Missing in isoform 4. 1 PublicationVSP_019315Add
    BLAST
    Alternative sequencei545 – 55915SLQER…LSLKE → RNKCEGKYYEVHGNT in isoform 7. 1 PublicationVSP_043583Add
    BLAST
    Alternative sequencei545 – 5517SLQERIK → RKPFLDG in isoform 11. 1 PublicationVSP_047528
    Alternative sequencei552 – 854303Missing in isoform 11. 1 PublicationVSP_047529Add
    BLAST
    Alternative sequencei560 – 57920Missing in isoform 7. 1 PublicationVSP_043584Add
    BLAST
    Alternative sequencei564 – 57916VCMSE…RKKVN → ETISGRLKTSPRRLDH in isoform 6. 1 PublicationVSP_043585Add
    BLAST
    Alternative sequencei580 – 854275Missing in isoform 6 and isoform 7. 1 PublicationVSP_043586Add
    BLAST
    Alternative sequencei661 – 854194ETSVK…HEAQA → DGVSLCRPVWSAVVRSCSLQ PLPPEFKQFSCLSLRSSWDY RCPPPCLANFVFLVEMGFYH VDQTGLKLLTSSDPPSSASQ SAGITDMSHCAWPLQ in isoform 5. 1 PublicationVSP_043214Add
    BLAST
    Alternative sequencei661 – 69535ETSVK…WEADL → AASVHCLGKCGKLTWKLVDC LSRAYSSRKPGEACL in isoform 8. 1 PublicationVSP_043587Add
    BLAST
    Alternative sequencei661 – 67818ETSVK…TLKNK → GYKYCDAESWTQRSQQLA in isoform 3. 1 PublicationVSP_019316Add
    BLAST
    Alternative sequencei661 – 6622ET → GR in isoform 9. 1 PublicationVSP_047530
    Alternative sequencei663 – 854192Missing in isoform 9. 1 PublicationVSP_047531Add
    BLAST
    Alternative sequencei679 – 854176Missing in isoform 3. 1 PublicationVSP_019317Add
    BLAST
    Alternative sequencei696 – 854159Missing in isoform 8. 1 PublicationVSP_043588Add
    BLAST
    Alternative sequencei748 – 76922Missing in isoform 2. 1 PublicationVSP_003849Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF222983 Genomic DNA. Translation: AAF73874.1.
    AF222987 Genomic DNA. Translation: AAF73877.1.
    AF222980 mRNA. Translation: AAF73889.1.
    AJ506178 mRNA. Translation: CAD44628.1.
    AJ506177 mRNA. Translation: CAD44631.1.
    AB007926 mRNA. Translation: BAA32302.1. Different initiation.
    FJ804174 mRNA. Translation: ACR40040.1.
    FJ804178 mRNA. Translation: ACR40044.1.
    FJ804180 mRNA. Translation: ACR40046.1.
    FJ804182 mRNA. Translation: ACR40048.1.
    FJ804184 mRNA. Translation: ACR40050.1.
    FJ804186 mRNA. Translation: ACR40052.1.
    FJ804190 mRNA. Translation: ACR40056.1.
    FJ804191 mRNA. Translation: ACR40057.1.
    FJ804196 mRNA. Translation: ACR40062.1.
    FJ804197 mRNA. Translation: ACR40063.1.
    FJ804199 mRNA. Translation: ACR40065.1.
    FJ804200 mRNA. Translation: ACR40066.1.
    FJ804203 mRNA. Translation: ACR40069.1.
    FJ804204 mRNA. Translation: ACR40070.1.
    FJ804205 mRNA. Translation: ACR40071.1.
    FJ804208 mRNA. Translation: ACR40074.1.
    FJ804212 mRNA. Translation: ACR40078.1.
    AL626763
    , AL136171, AL161743, AL359543, AL445200, AL450284 Genomic DNA. Translation: CAH70955.1. Sequence problems.
    AL626763
    , AL136171, AL359543, AL450284 Genomic DNA. Translation: CAH70956.1.
    AL626763, AL359543 Genomic DNA. Translation: CAH70957.1.
    AL450284
    , AL136171, AL161743, AL359543, AL445200, AL626763 Genomic DNA. Translation: CAI15677.1. Sequence problems.
    AL450284
    , AL136171, AL359543, AL626763 Genomic DNA. Translation: CAI15679.1.
    AL359543
    , AL136171, AL161743, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI17204.1. Sequence problems.
    AL359543
    , AL136171, AL450284, AL626763 Genomic DNA. Translation: CAI17206.1.
    AL359543, AL626763 Genomic DNA. Translation: CAI17207.1.
    AL136171
    , AL161743, AL359543, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI21886.1. Sequence problems.
    AL136171
    , AL359543, AL450284, AL626763 Genomic DNA. Translation: CAI21888.1.
    AL161743
    , AL136171, AL359543, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI22543.1. Sequence problems.
    AL445200
    , AL136171, AL161743, AL359543, AL450284, AL626763 Genomic DNA. Translation: CAI23013.1. Sequence problems.
    AL751364 Genomic DNA. No translation available.
    CCDSiCCDS31055.1. [Q9NRI5-3]
    CCDS31056.1. [Q9NRI5-4]
    CCDS53482.1. [Q9NRI5-5]
    CCDS53483.1. [Q9NRI5-8]
    CCDS53484.1. [Q9NRI5-6]
    CCDS53485.1. [Q9NRI5-7]
    CCDS59205.1. [Q9NRI5-9]
    CCDS59206.1. [Q9NRI5-10]
    CCDS59207.1. [Q9NRI5-11]
    PIRiT00071.
    RefSeqiNP_001012975.1. NM_001012957.1. [Q9NRI5-2]
    NP_001012976.1. NM_001012958.1. [Q9NRI5-4]
    NP_001012977.1. NM_001012959.1. [Q9NRI5-3]
    NP_001158011.1. NM_001164539.1. [Q9NRI5-5]
    NP_001158013.1. NM_001164541.1. [Q9NRI5-8]
    NP_001158016.1. NM_001164544.1. [Q9NRI5-9]
    NP_001158017.1. NM_001164545.1. [Q9NRI5-6]
    NP_001158018.1. NM_001164546.1. [Q9NRI5-7]
    NP_001158019.1. NM_001164547.1. [Q9NRI5-7]
    NP_001158027.1. NM_001164555.1. [Q9NRI5-10]
    NP_001158028.1. NM_001164556.1. [Q9NRI5-11]
    NP_061132.2. NM_018662.2. [Q9NRI5-1]
    UniGeneiHs.13318.

    Genome annotation databases

    EnsembliENST00000317586; ENSP00000320784; ENSG00000162946. [Q9NRI5-4]
    ENST00000366633; ENSP00000355593; ENSG00000162946. [Q9NRI5-5]
    ENST00000366636; ENSP00000355596; ENSG00000162946. [Q9NRI5-3]
    ENST00000535983; ENSP00000443996; ENSG00000162946. [Q9NRI5-8]
    ENST00000537876; ENSP00000440909; ENSG00000162946. [Q9NRI5-7]
    ENST00000539444; ENSP00000440953; ENSG00000162946. [Q9NRI5-6]
    ENST00000602281; ENSP00000473425; ENSG00000162946. [Q9NRI5-9]
    ENST00000602700; ENSP00000473417; ENSG00000162946. [Q9NRI5-10]
    ENST00000602713; ENSP00000473261; ENSG00000162946. [Q9NRI5-10]
    ENST00000602822; ENSP00000473586; ENSG00000162946. [Q9NRI5-10]
    ENST00000602873; ENSP00000473386; ENSG00000162946. [Q9NRI5-11]
    GeneIDi27185.
    KEGGihsa:27185.
    UCSCiuc001hux.1. human. [Q9NRI5-4]
    uc001huy.3. human. [Q9NRI5-3]
    uc001huz.3. human. [Q9NRI5-1]
    uc001hva.3. human. [Q9NRI5-2]
    uc010pwk.1. human. [Q9NRI5-6]
    uc010pww.2. human. [Q9NRI5-5]
    uc010pxc.1. human. [Q9NRI5-7]
    uc010pxf.2. human. [Q9NRI5-8]

    Polymorphism databases

    DMDMi160332362.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF222983 Genomic DNA. Translation: AAF73874.1 .
    AF222987 Genomic DNA. Translation: AAF73877.1 .
    AF222980 mRNA. Translation: AAF73889.1 .
    AJ506178 mRNA. Translation: CAD44628.1 .
    AJ506177 mRNA. Translation: CAD44631.1 .
    AB007926 mRNA. Translation: BAA32302.1 . Different initiation.
    FJ804174 mRNA. Translation: ACR40040.1 .
    FJ804178 mRNA. Translation: ACR40044.1 .
    FJ804180 mRNA. Translation: ACR40046.1 .
    FJ804182 mRNA. Translation: ACR40048.1 .
    FJ804184 mRNA. Translation: ACR40050.1 .
    FJ804186 mRNA. Translation: ACR40052.1 .
    FJ804190 mRNA. Translation: ACR40056.1 .
    FJ804191 mRNA. Translation: ACR40057.1 .
    FJ804196 mRNA. Translation: ACR40062.1 .
    FJ804197 mRNA. Translation: ACR40063.1 .
    FJ804199 mRNA. Translation: ACR40065.1 .
    FJ804200 mRNA. Translation: ACR40066.1 .
    FJ804203 mRNA. Translation: ACR40069.1 .
    FJ804204 mRNA. Translation: ACR40070.1 .
    FJ804205 mRNA. Translation: ACR40071.1 .
    FJ804208 mRNA. Translation: ACR40074.1 .
    FJ804212 mRNA. Translation: ACR40078.1 .
    AL626763
    , AL136171 , AL161743 , AL359543 , AL445200 , AL450284 Genomic DNA. Translation: CAH70955.1 . Sequence problems.
    AL626763
    , AL136171 , AL359543 , AL450284 Genomic DNA. Translation: CAH70956.1 .
    AL626763 , AL359543 Genomic DNA. Translation: CAH70957.1 .
    AL450284
    , AL136171 , AL161743 , AL359543 , AL445200 , AL626763 Genomic DNA. Translation: CAI15677.1 . Sequence problems.
    AL450284
    , AL136171 , AL359543 , AL626763 Genomic DNA. Translation: CAI15679.1 .
    AL359543
    , AL136171 , AL161743 , AL445200 , AL450284 , AL626763 Genomic DNA. Translation: CAI17204.1 . Sequence problems.
    AL359543
    , AL136171 , AL450284 , AL626763 Genomic DNA. Translation: CAI17206.1 .
    AL359543 , AL626763 Genomic DNA. Translation: CAI17207.1 .
    AL136171
    , AL161743 , AL359543 , AL445200 , AL450284 , AL626763 Genomic DNA. Translation: CAI21886.1 . Sequence problems.
    AL136171
    , AL359543 , AL450284 , AL626763 Genomic DNA. Translation: CAI21888.1 .
    AL161743
    , AL136171 , AL359543 , AL445200 , AL450284 , AL626763 Genomic DNA. Translation: CAI22543.1 . Sequence problems.
    AL445200
    , AL136171 , AL161743 , AL359543 , AL450284 , AL626763 Genomic DNA. Translation: CAI23013.1 . Sequence problems.
    AL751364 Genomic DNA. No translation available.
    CCDSi CCDS31055.1. [Q9NRI5-3 ]
    CCDS31056.1. [Q9NRI5-4 ]
    CCDS53482.1. [Q9NRI5-5 ]
    CCDS53483.1. [Q9NRI5-8 ]
    CCDS53484.1. [Q9NRI5-6 ]
    CCDS53485.1. [Q9NRI5-7 ]
    CCDS59205.1. [Q9NRI5-9 ]
    CCDS59206.1. [Q9NRI5-10 ]
    CCDS59207.1. [Q9NRI5-11 ]
    PIRi T00071.
    RefSeqi NP_001012975.1. NM_001012957.1. [Q9NRI5-2 ]
    NP_001012976.1. NM_001012958.1. [Q9NRI5-4 ]
    NP_001012977.1. NM_001012959.1. [Q9NRI5-3 ]
    NP_001158011.1. NM_001164539.1. [Q9NRI5-5 ]
    NP_001158013.1. NM_001164541.1. [Q9NRI5-8 ]
    NP_001158016.1. NM_001164544.1. [Q9NRI5-9 ]
    NP_001158017.1. NM_001164545.1. [Q9NRI5-6 ]
    NP_001158018.1. NM_001164546.1. [Q9NRI5-7 ]
    NP_001158019.1. NM_001164547.1. [Q9NRI5-7 ]
    NP_001158027.1. NM_001164555.1. [Q9NRI5-10 ]
    NP_001158028.1. NM_001164556.1. [Q9NRI5-11 ]
    NP_061132.2. NM_018662.2. [Q9NRI5-1 ]
    UniGenei Hs.13318.

    3D structure databases

    ProteinModelPortali Q9NRI5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118061. 112 interactions.
    DIPi DIP-33828N.
    IntActi Q9NRI5. 100 interactions.

    PTM databases

    PhosphoSitei Q9NRI5.

    Polymorphism databases

    DMDMi 160332362.

    Proteomic databases

    MaxQBi Q9NRI5.
    PaxDbi Q9NRI5.
    PRIDEi Q9NRI5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317586 ; ENSP00000320784 ; ENSG00000162946 . [Q9NRI5-4 ]
    ENST00000366633 ; ENSP00000355593 ; ENSG00000162946 . [Q9NRI5-5 ]
    ENST00000366636 ; ENSP00000355596 ; ENSG00000162946 . [Q9NRI5-3 ]
    ENST00000535983 ; ENSP00000443996 ; ENSG00000162946 . [Q9NRI5-8 ]
    ENST00000537876 ; ENSP00000440909 ; ENSG00000162946 . [Q9NRI5-7 ]
    ENST00000539444 ; ENSP00000440953 ; ENSG00000162946 . [Q9NRI5-6 ]
    ENST00000602281 ; ENSP00000473425 ; ENSG00000162946 . [Q9NRI5-9 ]
    ENST00000602700 ; ENSP00000473417 ; ENSG00000162946 . [Q9NRI5-10 ]
    ENST00000602713 ; ENSP00000473261 ; ENSG00000162946 . [Q9NRI5-10 ]
    ENST00000602822 ; ENSP00000473586 ; ENSG00000162946 . [Q9NRI5-10 ]
    ENST00000602873 ; ENSP00000473386 ; ENSG00000162946 . [Q9NRI5-11 ]
    GeneIDi 27185.
    KEGGi hsa:27185.
    UCSCi uc001hux.1. human. [Q9NRI5-4 ]
    uc001huy.3. human. [Q9NRI5-3 ]
    uc001huz.3. human. [Q9NRI5-1 ]
    uc001hva.3. human. [Q9NRI5-2 ]
    uc010pwk.1. human. [Q9NRI5-6 ]
    uc010pww.2. human. [Q9NRI5-5 ]
    uc010pxc.1. human. [Q9NRI5-7 ]
    uc010pxf.2. human. [Q9NRI5-8 ]

    Organism-specific databases

    CTDi 27185.
    GeneCardsi GC01P231762.
    HGNCi HGNC:2888. DISC1.
    HPAi CAB013016.
    MIMi 181500. phenotype.
    604906. phenotype.
    605210. gene.
    neXtProti NX_Q9NRI5.
    Orphaneti 3140. Schizophrenia.
    PharmGKBi PA27342.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG76097.
    HOGENOMi HOG000056668.
    HOVERGENi HBG051360.
    KOi K16534.
    OMAi YMRSTAG.
    PhylomeDBi Q9NRI5.
    TreeFami TF332357.

    Miscellaneous databases

    GeneWikii DISC1.
    GenomeRNAii 27185.
    NextBioi 50024.
    PROi Q9NRI5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NRI5.
    Bgeei Q9NRI5.
    Genevestigatori Q9NRI5.

    Family and domain databases

    InterProi IPR026081. DISC1.
    IPR009053. Prefoldin.
    [Graphical view ]
    PANTHERi PTHR14332. PTHR14332. 1 hit.
    SUPFAMi SSF46579. SSF46579. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS GLN-264 AND CYS-704.
    2. "Evolutionary constraints on the Disrupted in Schizophrenia locus."
      Taylor M.S., Devon R.S., Millar J.K., Porteous D.J.
      Genomics 81:67-77(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-264.
      Tissue: Fetal heart.
    3. "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain."
      Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O.
      DNA Res. 4:345-349(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-264.
      Tissue: Brain.
    4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5; 6; 7; 8; 9; 10 AND 11), ALTERNATIVE SPLICING.
      Tissue: Brain.
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
    7. "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation."
      Morris J.A., Kandpal G., Ma L., Austin C.P.
      Hum. Mol. Genet. 12:1591-1608(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ACTN2; ANKHD1; ATF4; ATF5; CEP63; EIF3S3; MAP1A; MICROTUBULES; NDEL1; RANBP9; SPTBN4; SYNE1 AND TRAF3IP1, SUBCELLULAR LOCATION.
    8. "Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects."
      Hennah W., Varilo T., Kestilae M., Paunio T., Arajaervi R., Haukka J., Parker A., Martin R., Levitzky S., Partonen T., Meyer J., Loennqvist J., Peltonen L., Ekelund J.
      Hum. Mol. Genet. 12:3151-3159(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
    9. "Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth."
      Ozeki Y., Tomoda T., Kleiderlein J., Kamiya A., Bord L., Fujii K., Okawa M., Yamada N., Hatten M.E., Snyder S.H., Ross C.A., Sawa A.
      Proc. Natl. Acad. Sci. U.S.A. 100:289-294(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NDEL1, SUBCELLULAR LOCATION.
    10. Erratum
      Ozeki Y., Tomoda T., Kleiderlein J., Kamiya A., Bord L., Fujii K., Okawa M., Yamada N., Hatten M.E., Snyder S.H., Ross C.A., Sawa A.
      Proc. Natl. Acad. Sci. U.S.A. 101:13969-13969(2004)
    11. "Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder."
      Hodgkinson C.A., Goldman D., Jaeger J., Persaud S., Kane J.M., Lipsky R.H., Malhotra A.K.
      Am. J. Hum. Genet. 75:862-872(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD, VARIANTS VAL-5 AND PHE-607.
    12. "Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders."
      Brandon N.J., Handford E.J., Schurov I., Rain J.-C., Pelling M., Duran-Jimeniz B., Camargo L.M., Oliver K.R., Beher D., Shearman M.S., Whiting P.J.
      Mol. Cell. Neurosci. 25:42-55(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TUBULIN ALPHA; NDEL1 AND PAFAH1B1, SUBCELLULAR LOCATION, MUTAGENESIS OF LEU-815 AND LEU-822.
    13. "Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site."
      Brandon N.J., Schurov I., Camargo L.M., Handford E.J., Duran-Jimeniz B., Hunt P., Millar J.K., Porteous D.J., Shearman M.S., Whiting P.J.
      Mol. Cell. Neurosci. 28:613-624(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    14. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9, VARIANT CYS-704.
    15. Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    16. "DISC1-NDEL1/NUDEL protein interaction, an essential component for neurite outgrowth, is modulated by genetic variations of DISC1."
      Kamiya A., Tomoda T., Chang J., Takaki M., Zhan C., Morita M., Cascio M.B., Elashvili S., Koizumi H., Takanezawa Y., Dickerson F., Yolken R., Arai H., Sawa A.
      Hum. Mol. Genet. 15:3313-3323(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NDEL1.
    17. "DISC1-kendrin interaction is involved in centrosomal microtubule network formation."
      Shimizu S., Matsuzaki S., Hattori T., Kumamoto N., Miyoshi K., Katayama T., Tohyama M.
      Biochem. Biophys. Res. Commun. 377:1051-1056(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PCNT, SUBCELLULAR LOCATION.
    18. "Disc1 regulates granule cell migration in the developing hippocampus."
      Meyer K.D., Morris J.A.
      Hum. Mol. Genet. 18:3286-3297(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    19. "Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling."
      Mao Y., Ge X., Frank C.L., Madison J.M., Koehler A.N., Doud M.K., Tassa C., Berry E.M., Soda T., Singh K.K., Biechele T., Petryshen T.L., Moon R.T., Haggarty S.J., Tsai L.H.
      Cell 136:1017-1031(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    20. "CHCM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology."
      An J., Shi J., He Q., Lui K., Liu Y., Huang Y., Sheikh M.S.
      J. Biol. Chem. 287:7411-7426(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CHCHD6.

    Entry informationi

    Entry nameiDISC1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NRI5
    Secondary accession number(s): A6NLH2
    , C4P091, C4P095, C4P0A1, C4P0A3, C4P0B3, C4P0B6, C4P0C1, C9J6D0, O75045, Q5VT44, Q5VT45, Q8IXJ0, Q8IXJ1, Q9BX19, Q9NRI3, Q9NRI4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: November 13, 2007
    Last modified: October 1, 2014
    This is version 121 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3