[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANTS GLN-264 AND CYS-704.
DOI=10.1093/hmg/9.9.1415; PubMed=10814723 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Disruption of two novel genes by a schizophrenia-linked translocation.";
Hum. Mol. Genet. 9:1415-1423(2000).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), AND VARIANT GLN-264.
TISSUE=Fetal heart;
DOI=10.1016/S0888-7543(02)00026-5; PubMed=12573262 [NCBI, ExPASy, EBI, Israel, Japan]
Taylor M.S.,
Devon R.S.,
Millar J.K.,
Porteous D.J.;
"Evolutionary constraints on the Disrupted in Schizophrenia locus.";
Genomics 81:67-77(2003).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT GLN-264.
TISSUE=Brain;
DOI=10.1093/dnares/4.5.345; PubMed=9455484 [NCBI, ExPASy, EBI, Israel, Japan]
Seki N.,
Ohira M.,
Nagase T.,
Ishikawa K.,
Miyajima N.,
Nakajima D.,
Nomura N.,
Ohara O.;
"Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.";
DNA Res. 4:345-349(1997).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04727; PubMed=16710414 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
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[5]
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INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
DOI=10.1093/hmg/10.15.1611; PubMed=11468279 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Chromosome 1 loci in Finnish schizophrenia families.";
Hum. Mol. Genet. 10:1611-1617(2001).
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[6]
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INTERACTION WITH ACTN2; ANKHD1; ATF4; ATF5; CEP63; EIF3S3; MAP1A; MICROTUBULES; NDEL1; RANBP9; SPTBN4; SYNE1 AND TRAF3IP1, AND SUBCELLULAR LOCATION.
DOI=10.1093/hmg/ddg162; PubMed=12812986 [NCBI, ExPASy, EBI, Israel, Japan]
Morris J.A.,
Kandpal G.,
Ma L.,
Austin C.P.;
"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.";
Hum. Mol. Genet. 12:1591-1608(2003).
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[7]
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INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
DOI=10.1093/hmg/ddg341; PubMed=14532331 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects.";
Hum. Mol. Genet. 12:3151-3159(2003).
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[8]
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INTERACTION WITH NDEL1, AND SUBCELLULAR LOCATION.
DOI=10.1073/pnas.0136913100; PubMed=12506198 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth.";
Proc. Natl. Acad. Sci. U.S.A. 100:289-294(2003).
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[9]
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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).
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[10]
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INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9 AND SCHIZOAFFECTIVE DISORDER, AND VARIANTS VAL-5 AND PHE-607.
DOI=10.1086/425586; PubMed=15386212 [NCBI, ExPASy, EBI, Israel, Japan]
Hodgkinson C.A.,
Goldman D.,
Jaeger J.,
Persaud S.,
Kane J.M.,
Lipsky R.H.,
Malhotra A.K.;
"Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder.";
Am. J. Hum. Genet. 75:862-872(2004).
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[11]
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INTERACTION WITH TUBULIN ALPHA; NDEL1 AND PAFAH1B1, SUBCELLULAR LOCATION, AND MUTAGENESIS OF LEU-815 AND LEU-822.
DOI=10.1016/j.mcn.2003.09.009; PubMed=14962739 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders.";
Mol. Cell. Neurosci. 25:42-55(2004).
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[12]
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SUBCELLULAR LOCATION.
DOI=10.1016/j.mcn.2004.11.003; PubMed=15797709 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site.";
Mol. Cell. Neurosci. 28:613-624(2005).
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[13]
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INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9, AND VARIANT CYS-704.
DOI=10.1073/pnas.0500515102; PubMed=15939883 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia.";
Proc. Natl. Acad. Sci. U.S.A. 102:8627-8632(2005).
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[14]
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TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
DOI=10.1093/hmg/ddl040; PubMed=16510495 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs.";
Hum. Mol. Genet. 15:1245-1258(2006).
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- SUBUNIT: 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.
- INTERACTION:
Q9NRD6:-; NbExp=6; IntAct=EBI-529989, EBI-928811;
Q5VXF1:ACTN2; NbExp=3; IntAct=EBI-529989, EBI-928705;
Q8IWZ3-1:ANKHD1; NbExp=6; IntAct=EBI-529989, EBI-1785446;
P18848:ATF4; NbExp=3; IntAct=EBI-529989, EBI-492498;
Q9Y2D1:ATF5; NbExp=7; IntAct=EBI-529989, EBI-492509;
Q6VMQ6:ATF7IP; NbExp=3; IntAct=EBI-529989, EBI-928732;
Q96JB5:CDK5RAP3; NbExp=2; IntAct=EBI-529989, EBI-718818;
Q96MT8:CEP63; NbExp=7; IntAct=EBI-529989, EBI-741977;
P10909:CLU; NbExp=2; IntAct=EBI-529989, EBI-1104674;
P12110:COL6A2; NbExp=3; IntAct=EBI-529989, EBI-928749;
Q13561:DCTN2; NbExp=2; IntAct=EBI-529989, EBI-715074;
O94833-2:DST; NbExp=2; IntAct=EBI-529989, EBI-1019345;
Q14204:DYNC1H1; NbExp=2; IntAct=EBI-529989, EBI-356015;
O15372:EIF3H; NbExp=7; IntAct=EBI-529989, EBI-709735;
Q8N8H3:FLJ39502; NbExp=5; IntAct=EBI-529989, EBI-928795;
Q16891:IMMT; NbExp=2; IntAct=EBI-529989, EBI-473801;
Q15811:ITSN1; NbExp=3; IntAct=EBI-529989, EBI-602041;
Q9P2H0:KIAA1377; NbExp=2; IntAct=EBI-529989, EBI-473176;
Q9Y496:KIF3A; NbExp=2; IntAct=EBI-529989, EBI-1104844;
Q9UPN3:MACF1; NbExp=2; IntAct=EBI-529989, EBI-522925;
P78559:MAP1A; NbExp=3; IntAct=EBI-529989, EBI-929047;
P12883:MYH7; NbExp=2; IntAct=EBI-529989, EBI-519141;
Q9GZM8:NDEL1; NbExp=9; IntAct=EBI-529989, EBI-928842;
Q99784:OLFM1; NbExp=2; IntAct=EBI-529989, EBI-1105073;
O95613:PCNT; NbExp=3; IntAct=EBI-529989, EBI-530012;
Q96S59:RANBP9; NbExp=6; IntAct=EBI-529989, EBI-636085;
Q02833:RASSF7; NbExp=2; IntAct=EBI-529989, EBI-929013;
Q969G3:SMARCE1; NbExp=2; IntAct=EBI-529989, EBI-455078;
Q9UNH7:SNX6; NbExp=2; IntAct=EBI-529989, EBI-949294;
Q9H254:SPTBN4; NbExp=3; IntAct=EBI-529989, EBI-308543;
Q8NF91:SYNE1; NbExp=6; IntAct=EBI-529989, EBI-928867;
P63104:YWHAZ; NbExp=2; IntAct=EBI-529989, EBI-347088;
- SUBCELLULAR LOCATION: Cytoplasm. Centrosome. Cytoplasm, cytoskeleton. Note=Localizes to neurites (By similarity). Localizes to punctate cytoplasmic foci which overlap in part with mitochondria. Also localizes to the centrosome.
- ALTERNATIVE PRODUCTS:
4 named isoforms [FASTA] produced by alternative splicing.
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| Name | 2 |
| Synonyms | LV |
| Isoform ID | Q9NRI5-2 |
| Features which should be applied to build the isoform sequence: VSP_003849. |
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- 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.
- 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.
- 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.
- DISEASE: Genetic variation in DISC1 may be associated with susceptibility to schizophrenia 9 (SCZD9) [MIM:604906]. Schizophrenia [MIM:181500] is a psychosis, a disorder of thought and sense of self. 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. No objective biological test for schizophrenia exists. Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex.
- DISEASE: Genetic variation in DISC1 may be associated with susceptibility to schizoaffective disorder [MIM:181500]. Schizoaffective disorder is a psychiatric condition characterized by the co-occurrence of symptoms of both mood disorder and psychosis.
- SEQUENCE CAUTION:
- 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;
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