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Q9NRI5 (DISC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Disrupted in schizophrenia 1 protein
Gene names
Name:DISC1
Synonyms:KIAA0457
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length854 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.17 Ref.18 Ref.19

Subunit structure

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. Ref.7 Ref.9 Ref.12 Ref.16 Ref.17 Ref.20

Subcellular location

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. Ref.7 Ref.9 Ref.12 Ref.13 Ref.17

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. Ref.15

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. Ref.15

Involvement in disease

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. Ref.6 Ref.8 Ref.14

Sequence caution

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.

Ontologies

Keywords
   Biological processNeurogenesis
Wnt signaling pathway
   Cellular componentCell junction
Cell membrane
Cytoplasm
Cytoskeleton
Membrane
Microtubule
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseSchizophrenia
   DomainCoiled coil
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processTOR signaling

Inferred from electronic annotation. Source: Ensembl

canonical Wnt signaling pathway

Inferred from electronic annotation. Source: Ensembl

cell proliferation in forebrain

Inferred from electronic annotation. Source: Ensembl

cerebral cortex radially oriented cell migration

Inferred from electronic annotation. Source: Ensembl

microtubule cytoskeleton organization

Inferred from mutant phenotype Ref.17. Source: UniProtKB

mitochondrial calcium ion homeostasis

Inferred from electronic annotation. Source: Ensembl

neuron migration

Inferred from mutant phenotype Ref.18. Source: UniProtKB

positive regulation of Wnt signaling pathway

Inferred from genetic interaction Ref.19. Source: UniProtKB

positive regulation of neuroblast proliferation

Inferred from genetic interaction Ref.19. Source: UniProtKB

positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process

Inferred from electronic annotation. Source: Ensembl

protein localization

Inferred from electronic annotation. Source: Ensembl

regulation of neuron projection development

Inferred from electronic annotation. Source: Ensembl

regulation of synapse maturation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcell junction

Inferred from electronic annotation. Source: UniProtKB-KW

centrosome

Inferred from direct assay Ref.17. Source: UniProtKB

microtubule

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrion

Inferred from direct assay PubMed 20880836. Source: MGI

postsynaptic density

Inferred from electronic annotation. Source: UniProtKB-SubCell

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionprotein binding

Inferred from physical interaction Ref.16Ref.17Ref.20. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 11 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist. More than 50 different isoforms are produced in the brain.
Isoform 1 (identifier: Q9NRI5-1)

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.
Isoform 2 (identifier: Q9NRI5-2)

Also known as: LV;

The sequence of this isoform differs from the canonical sequence as follows:
     748-769: Missing.
Isoform 3 (identifier: Q9NRI5-3)

Also known as: S;

The sequence of this isoform differs from the canonical sequence as follows:
     661-678: ETSVKENTMKYMETLKNK → GYKYCDAESWTQRSQQLA
     679-854: Missing.
Isoform 4 (identifier: Q9NRI5-4)

Also known as: ES;

The sequence of this isoform differs from the canonical sequence as follows:
     350-369: VISLRLKLQKLQEDAVENDD → LEPIALDPPWKPRHPEPNSY
     370-854: Missing.
Isoform 5 (identifier: Q9NRI5-5)

Also known as: 26;

The sequence of this isoform differs from the canonical sequence as follows:
     661-854: ETSVKENTMK...MTAGVHEAQA → DGVSLCRPVW...DMSHCAWPLQ
Isoform 6 (identifier: Q9NRI5-6)

The sequence of this isoform differs from the canonical sequence as follows:
     564-579: VCMSEKFCSTLRKKVN → ETISGRLKTSPRRLDH
     580-854: Missing.
Isoform 7 (identifier: Q9NRI5-7)

The sequence of this isoform differs from the canonical sequence as follows:
     545-559: SLQERIKSLNLSLKE → RNKCEGKYYEVHGNT
     560-579: Missing.
     580-854: Missing.
Isoform 8 (identifier: Q9NRI5-8)

The sequence of this isoform differs from the canonical sequence as follows:
     661-695: ETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADL → AASVHCLGKCGKLTWKLVDCLSRAYSSRKPGEACL
     696-854: Missing.
Isoform 9 (identifier: Q9NRI5-9)

The sequence of this isoform differs from the canonical sequence as follows:
     661-662: ET → GR
     663-854: Missing.
Isoform 10 (identifier: Q9NRI5-10)

The sequence of this isoform differs from the canonical sequence as follows:
     350-356: VISLRLK → LRRYNKD
     357-854: Missing.
Isoform 11 (identifier: Q9NRI5-11)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 854854Disrupted in schizophrenia 1 protein
PRO_0000079916

Regions

Region1 – 292292Interaction with MAP1A
Region293 – 696404Interaction with TRAF3IP1
Region440 – 597158Required for localization to punctate cytoplasmic foci
Region446 – 854409Necessary and sufficient for interaction with PCNT and localization at the centrosome
Region598 – 854257Interaction with ATF4 and ATF5
Region727 – 854128Interaction with PAFAH1B1
Region802 – 83534Interaction with NDEL1
Coiled coil366 – 39429 Potential
Coiled coil452 – 50554 Potential
Coiled coil602 – 66665 Potential
Coiled coil802 – 83029 Potential

Natural variations

Alternative sequence23 – 372350Missing in isoform 11.
VSP_047525
Alternative sequence350 – 36920VISLR…VENDD → LEPIALDPPWKPRHPEPNSY in isoform 4.
VSP_019314
Alternative sequence350 – 3567VISLRLK → LRRYNKD in isoform 10.
VSP_047526
Alternative sequence357 – 854498Missing in isoform 10.
VSP_047527
Alternative sequence370 – 854485Missing in isoform 4.
VSP_019315
Alternative sequence545 – 55915SLQER…LSLKE → RNKCEGKYYEVHGNT in isoform 7.
VSP_043583
Alternative sequence545 – 5517SLQERIK → RKPFLDG in isoform 11.
VSP_047528
Alternative sequence552 – 854303Missing in isoform 11.
VSP_047529
Alternative sequence560 – 57920Missing in isoform 7.
VSP_043584
Alternative sequence564 – 57916VCMSE…RKKVN → ETISGRLKTSPRRLDH in isoform 6.
VSP_043585
Alternative sequence580 – 854275Missing in isoform 6 and isoform 7.
VSP_043586
Alternative sequence661 – 854194ETSVK…HEAQA → DGVSLCRPVWSAVVRSCSLQ PLPPEFKQFSCLSLRSSWDY RCPPPCLANFVFLVEMGFYH VDQTGLKLLTSSDPPSSASQ SAGITDMSHCAWPLQ in isoform 5.
VSP_043214
Alternative sequence661 – 69535ETSVK…WEADL → AASVHCLGKCGKLTWKLVDC LSRAYSSRKPGEACL in isoform 8.
VSP_043587
Alternative sequence661 – 67818ETSVK…TLKNK → GYKYCDAESWTQRSQQLA in isoform 3.
VSP_019316
Alternative sequence661 – 6622ET → GR in isoform 9.
VSP_047530
Alternative sequence663 – 854192Missing in isoform 9.
VSP_047531
Alternative sequence679 – 854176Missing in isoform 3.
VSP_019317
Alternative sequence696 – 854159Missing in isoform 8.
VSP_043588
Alternative sequence748 – 76922Missing in isoform 2.
VSP_003849
Natural variant51G → V. Ref.11
Corresponds to variant rs3738400 [ dbSNP | Ensembl ].
VAR_030422
Natural variant1161A → V.
Corresponds to variant rs56020408 [ dbSNP | Ensembl ].
VAR_061642
Natural variant2641R → Q. Ref.1 Ref.2 Ref.3
Corresponds to variant rs3738401 [ dbSNP | Ensembl ].
VAR_022437
Natural variant3281T → N.
Corresponds to variant rs55795950 [ dbSNP | Ensembl ].
VAR_061643
Natural variant3301L → F.
Corresponds to variant rs34622148 [ dbSNP | Ensembl ].
VAR_050954
Natural variant5311G → R.
Corresponds to variant rs56229136 [ dbSNP | Ensembl ].
VAR_061644
Natural variant6071L → F Associated with susceptibility to schizoaffective disorder. Ref.11
Corresponds to variant rs6675281 [ dbSNP | Ensembl ].
VAR_026704
Natural variant7041S → C. Ref.1 Ref.14
Corresponds to variant rs821616 [ dbSNP | Ensembl ].
VAR_022438

Experimental info

Mutagenesis8151L → P: Impairs interaction with NDEL1; when associated with P-822. Ref.12
Mutagenesis8221L → P: Impairs interaction with NDEL1; when associated with P-815. Ref.12

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (L) [UniParc].

Last modified November 13, 2007. Version 3.
Checksum: 63C3FDF2F59830C6

FASTA85493,611
        10         20         30         40         50         60 
MPGGGPQGAP AAAGGGGVSH RAGSRDCLPP AACFRRRRLA RRPGYMRSST GPGIGFLSPA 

        70         80         90        100        110        120 
VGTLFRFPGG VSGEESHHSE SRARQCGLDS RGLLVRSPVS KSAAAPTVTS VRGTSAHFGI 

       130        140        150        160        170        180 
QLRGGTRLPD RLSWPCGPGS AGWQQEFAAM DSSETLDASW EAACSDGARR VRAAGSLPSA 

       190        200        210        220        230        240 
ELSSNSCSPG CGPEVPPTPP GSHSAFTSSF SFIRLSLGSA GERGEAEGCP PSREAESHCQ 

       250        260        270        280        290        300 
SPQEMGAKAA SLDGPHEDPR CLSRPFSLLA TRVSADLAQA ARNSSRPERD MHSLPDMDPG 

       310        320        330        340        350        360 
SSSSLDPSLA GCGGDGSSGS GDAHSWDTLL RKWEPVLRDC LLRNRRQMEV ISLRLKLQKL 

       370        380        390        400        410        420 
QEDAVENDDY DKAETLQQRL EDLEQEKISL HFQLPSRQPA LSSFLGHLAA QVQAALRRGA 

       430        440        450        460        470        480 
TQQASGDDTH TPLRMEPRLL EPTAQDSLHV SITRRDWLLQ EKQQLQKEIE ALQARMFVLE 

       490        500        510        520        530        540 
AKDQQLRREI EEQEQQLQWQ GCDLTPLVGQ LSLGQLQEVS KALQDTLASA GQIPFHAEPP 

       550        560        570        580        590        600 
ETIRSLQERI KSLNLSLKEI TTKVCMSEKF CSTLRKKVND IETQLPALLE AKMHAISGNH 

       610        620        630        640        650        660 
FWTAKDLTEE IRSLTSEREG LEGLLSKLLV LSSRNVKKLG SVKEDYNRLR REVEHQETAY 

       670        680        690        700        710        720 
ETSVKENTMK YMETLKNKLC SCKCPLLGKV WEADLEACRL LIQSLQLQEA RGSLSVEDER 

       730        740        750        760        770        780 
QMDDLEGAAP PIPPRLHSED KRKTPLKVLE EWKTHLIPSL HCAGGEQKEE SYILSAELGE 

       790        800        810        820        830        840 
KCEDIGKKLL YLEDQLHTAI HSHDEDLIQS LRRELQMVKE TLQAMILQLQ PAKEAGEREA 

       850 
AASCMTAGVH EAQA 

« Hide

Isoform 2 (LV) [UniParc].

Checksum: D114C31463B18770
Show »

FASTA83291,124
Isoform 3 (S) [UniParc].

Checksum: F2E931A9DB718741
Show »

FASTA67873,916
Isoform 4 (ES) [UniParc].

Checksum: 615ECB993C80B9CB
Show »

FASTA36938,585
Isoform 5 (26) [UniParc].

Checksum: CC0C711A6F09B5CF
Show »

FASTA75582,262
Isoform 6 [UniParc].

Checksum: A19C09EBDE0DD5E7
Show »

FASTA57962,517
Isoform 7 [UniParc].

Checksum: 67B5E9B8316676B5
Show »

FASTA55960,265
Isoform 8 [UniParc].

Checksum: FDB43855DAF36864
Show »

FASTA69575,534
Isoform 9 [UniParc].

Checksum: D57BF408785D3455
Show »

FASTA66272,013
Isoform 10 [UniParc].

Checksum: 29A0A4398A13A2C9
Show »

FASTA35637,192
Isoform 11 [UniParc].

Checksum: 3981B6600BD44101
Show »

FASTA20122,198

References

« Hide 'large scale' references
[1]"Disruption of two novel genes by a translocation co-segregating with schizophrenia."
Millar J.K., Wilson-Annan J.C., Anderson S., Christie S., Taylor M.S., Semple C.A.M., Devon R.S., St Clair D.M., Muir W.J., Blackwood D.H.R., Porteous D.J.
Hum. Mol. Genet. 9:1415-1423(2000) [PubMed] [Europe PMC] [Abstract]
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]"DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms."
Nakata K., Lipska B.K., Hyde T.M., Ye T., Newburn E.N., Morita Y., Vakkalanka R., Barenboim M., Sei Y., Weinberger D.R., Kleinman J.E.
Proc. Natl. Acad. Sci. U.S.A. 106:15873-15878(2009) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Chromosome 1 loci in Finnish schizophrenia families."
Ekelund J., Hovatta I., Parker A., Paunio T., Varilo T., Martin R., Suhonen J., Ellonen P., Chan G., Sinsheimer J.S., Sobel E., Juvonen H., Arajaervi R., Partonen T., Suvisaari J., Loennqvist J., Meyer J., Peltonen L.
Hum. Mol. Genet. 10:1611-1617(2001) [PubMed] [Europe PMC] [Abstract]
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]"Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia."
Callicott J.H., Straub R.E., Pezawas L., Egan M.F., Mattay V.S., Hariri A.R., Verchinski B.A., Meyer-Lindenberg A., Balkissoon R., Kolachana B., Goldberg T.E., Weinberger D.R.
Proc. Natl. Acad. Sci. U.S.A. 102:8627-8632(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9, VARIANT CYS-704.
[15]"Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs."
Lipska B.K., Peters T., Hyde T.M., Halim N., Horowitz C., Mitkus S., Weickert C.S., Matsumoto M., Sawa A., Straub R.E., Vakkalanka R., Herman M.M., Weinberger D.R., Kleinman J.E.
Hum. Mol. Genet. 15:1245-1258(2006) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , AL136171, AL161743, AL359543, AL445200, AL450284 Genomic DNA. Translation: CAH70955.1. Sequence problems.
AL626763 expand/collapse EMBL AC list , AL136171, AL359543, AL450284 Genomic DNA. Translation: CAH70956.1.
AL626763, AL359543 Genomic DNA. Translation: CAH70957.1.
AL450284 expand/collapse EMBL AC list , AL136171, AL161743, AL359543, AL445200, AL626763 Genomic DNA. Translation: CAI15677.1. Sequence problems.
AL450284 expand/collapse EMBL AC list , AL136171, AL359543, AL626763 Genomic DNA. Translation: CAI15679.1.
AL359543 expand/collapse EMBL AC list , AL136171, AL161743, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI17204.1. Sequence problems.
AL359543 expand/collapse EMBL AC list , AL136171, AL450284, AL626763 Genomic DNA. Translation: CAI17206.1.
AL359543, AL626763 Genomic DNA. Translation: CAI17207.1.
AL136171 expand/collapse EMBL AC list , AL161743, AL359543, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI21886.1. Sequence problems.
AL136171 expand/collapse EMBL AC list , AL359543, AL450284, AL626763 Genomic DNA. Translation: CAI21888.1.
AL161743 expand/collapse EMBL AC list , AL136171, AL359543, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI22543.1. Sequence problems.
AL445200 expand/collapse EMBL AC list , AL136171, AL161743, AL359543, AL450284, AL626763 Genomic DNA. Translation: CAI23013.1. Sequence problems.
AL751364 Genomic DNA. No translation available.
CCDSCCDS31055.1. [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]
PIRT00071.
RefSeqNP_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]
UniGeneHs.13318.

3D structure databases

ProteinModelPortalQ9NRI5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118061. 112 interactions.
DIPDIP-33828N.
IntActQ9NRI5. 100 interactions.

PTM databases

PhosphoSiteQ9NRI5.

Polymorphism databases

DMDM160332362.

Proteomic databases

MaxQBQ9NRI5.
PaxDbQ9NRI5.
PRIDEQ9NRI5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317586; 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]
GeneID27185.
KEGGhsa:27185.
UCSCuc001hux.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

CTD27185.
GeneCardsGC01P231762.
HGNCHGNC:2888. DISC1.
HPACAB013016.
MIM181500. phenotype.
604906. phenotype.
605210. gene.
neXtProtNX_Q9NRI5.
Orphanet3140. Schizophrenia.
PharmGKBPA27342.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG76097.
HOGENOMHOG000056668.
HOVERGENHBG051360.
KOK16534.
OMAYMRSTAG.
PhylomeDBQ9NRI5.
TreeFamTF332357.

Gene expression databases

ArrayExpressQ9NRI5.
BgeeQ9NRI5.
GenevestigatorQ9NRI5.

Family and domain databases

InterProIPR026081. DISC1.
IPR009053. Prefoldin.
[Graphical view]
PANTHERPTHR14332. PTHR14332. 1 hit.
SUPFAMSSF46579. SSF46579. 1 hit.
ProtoNetSearch...

Other

GeneWikiDISC1.
GenomeRNAi27185.
NextBio50024.
PROQ9NRI5.
SOURCESearch...

Entry information

Entry nameDISC1_HUMAN
AccessionPrimary (citable) accession number: Q9NRI5
Secondary accession number(s): A6NLH2 expand/collapse secondary AC list , C4P091, C4P095, C4P0A1, C4P0A3, C4P0B3, C4P0B6, C4P0C1, C9J6D0, O75045, Q5VT44, Q5VT45, Q8IXJ0, Q8IXJ1, Q9BX19, Q9NRI3, Q9NRI4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 13, 2007
Last modified: July 9, 2014
This is version 120 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM