ID DISC1_HUMAN STANDARD; PRT; 854 AA. AC Q9NRI5; O75045; Q5VT45; Q9BX19; Q9NRI3; Q9NRI4; DT 28-FEB-2003 (Rel. 41, Created) DT 28-FEB-2003 (Rel. 41, Last sequence update) DT 13-SEP-2005 (Rel. 48, Last annotation update) DE Disrupted in schizophrenia 1 protein. GN Name=DISC1; Synonyms=KIAA0457; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE (ISOFORM 1), AND VARIANT CYS-704. RX MEDLINE=20275630; PubMed=10814723; DOI=10.1093/hmg/9.9.1415; RA Millar J.K., Wilson-Annan J.C., Anderson S., Christie S., Taylor M.S., RA Semple C.A.M., Devon R.S., St Clair D.M., Muir W.J., Blackwood D.H.R., RA Porteous D.J.; RT "Disruption of two novel genes by a schizophrenia-linked RT translocation."; RL Hum. Mol. Genet. 9:1415-1423(2000). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Brain; RX MEDLINE=98116662; PubMed=9455484; RA Seki N., Ohira M., Nagase T., Ishikawa K.-I., Miyajima N., RA Nakajima D., Nomura N., Ohara O.; RT "Characterization of cDNA clones in size-fractionated cDNA libraries RT from human brain."; RL DNA Res. 4:345-349(1997). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-264. RG Human chromosome 1 international sequencing consortium; RL Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases. CC -!- INTERACTION: CC O95613:PCNT2; NbExp=3; IntAct=EBI-529989, EBI-530012; CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q9NRI5-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9NRI5-2; Sequence=VSP_003849; CC Note=No experimental confirmation available; CC -!- TISSUE SPECIFICITY: Ubiquitous. CC -!- DISEASE: A chromosomal aberration involving DISC1 segregates with CC schizophrenia and related psychiatric disorders in a large CC Scottish family. Translocation t(1;11)(q42.1;q14.3). CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF222980; AAF73889.1; -; mRNA. DR EMBL; AF222983; AAF73874.1; -; Genomic_DNA. DR EMBL; AF222987; AAF73877.1; -; Genomic_DNA. DR EMBL; AB007926; BAA32302.1; -; mRNA. DR EMBL; AL626763; CAH70955.1; -; Genomic_DNA. DR EMBL; AL136171; CAH70955.1; JOINED; Genomic_DNA. DR EMBL; AL161743; CAH70955.1; JOINED; Genomic_DNA. DR EMBL; AL359543; CAH70955.1; JOINED; Genomic_DNA. DR EMBL; AL445200; CAH70955.1; JOINED; Genomic_DNA. DR EMBL; AL450284; CAH70955.1; JOINED; Genomic_DNA. DR EMBL; AL161743; CAI22543.1; -; Genomic_DNA. DR EMBL; AL136171; CAI22543.1; JOINED; Genomic_DNA. DR EMBL; AL359543; CAI22543.1; JOINED; Genomic_DNA. DR EMBL; AL445200; CAI22543.1; JOINED; Genomic_DNA. DR EMBL; AL450284; CAI22543.1; JOINED; Genomic_DNA. DR EMBL; AL626763; CAI22543.1; JOINED; Genomic_DNA. DR EMBL; AL359543; CAI17204.1; -; Genomic_DNA. DR EMBL; AL136171; CAI17204.1; JOINED; Genomic_DNA. DR EMBL; AL161743; CAI17204.1; JOINED; Genomic_DNA. DR EMBL; AL445200; CAI17204.1; JOINED; Genomic_DNA. DR EMBL; AL450284; CAI17204.1; JOINED; Genomic_DNA. DR EMBL; AL626763; CAI17204.1; JOINED; Genomic_DNA. DR EMBL; AL445200; CAI23013.1; -; Genomic_DNA. DR EMBL; AL136171; CAI23013.1; JOINED; Genomic_DNA. DR EMBL; AL161743; CAI23013.1; JOINED; Genomic_DNA. DR EMBL; AL359543; CAI23013.1; JOINED; Genomic_DNA. DR EMBL; AL450284; CAI23013.1; JOINED; Genomic_DNA. DR EMBL; AL626763; CAI23013.1; JOINED; Genomic_DNA. DR EMBL; AL450284; CAI15677.1; -; Genomic_DNA. DR EMBL; AL136171; CAI15677.1; JOINED; Genomic_DNA. DR EMBL; AL161743; CAI15677.1; JOINED; Genomic_DNA. DR EMBL; AL359543; CAI15677.1; JOINED; Genomic_DNA. DR EMBL; AL445200; CAI15677.1; JOINED; Genomic_DNA. DR EMBL; AL626763; CAI15677.1; JOINED; Genomic_DNA. DR EMBL; AL136171; CAI21886.1; -; Genomic_DNA. DR EMBL; AL161743; CAI21886.1; JOINED; Genomic_DNA. DR EMBL; AL359543; CAI21886.1; JOINED; Genomic_DNA. DR EMBL; AL445200; CAI21886.1; JOINED; Genomic_DNA. DR EMBL; AL450284; CAI21886.1; JOINED; Genomic_DNA. DR EMBL; AL626763; CAI21886.1; JOINED; Genomic_DNA. DR IntAct; Q9NRI5; -. DR Ensembl; ENSG00000162946; Homo sapiens. DR HGNC; HGNC:2888; DISC1. DR H-InvDB; HIX0022179; -. DR MIM; 605210; -. DR GO; GO:0005515; F:protein binding; IPI. KW Alternative splicing; Chromosomal translocation; Coiled coil; KW Polymorphism. FT COILED 349 394 Potential. FT COILED 448 504 Potential. FT COILED 541 564 Potential. FT COILED 602 668 Potential. FT COILED 802 835 Potential. FT VARSPLIC 748 769 Missing (in isoform 2). FT /FTId=VSP_003849. FT VARIANT 264 264 Q -> R (in dbSNP:3738401). FT /FTId=VAR_022437. FT VARIANT 704 704 S -> C (in dbSNP:821616). FT /FTId=VAR_022438. FT CONFLICT 809 809 Q -> H (in Ref. 3). SQ SEQUENCE 854 AA; 93583 MW; C74903867F83A06A CRC64; MPGGGPQGAP AAAGGGGVSH RAGSRDCLPP AACFRRRRLA RRPGYMRSST GPGIGFLSPA VGTLFRFPGG VSGEESHHSE SRARQCGLDS RGLLVRSPVS KSAAAPTVTS VRGTSAHFGI QLRGGTRLPD RLSWPCGPGS AGWQQEFAAM DSSETLDASW EAACSDGARR VRAAGSLPSA ELSSNSCSPG CGPEVPPTPP GSHSAFTSSF SFIRLSLGSA GERGEAEGCP PSREAESHCQ SPQEMGAKAA SLDGPHEDPR CLSQPFSLLA TRVSADLAQA ARNSSRPERD MHSLPDMDPG SSSSLDPSLA GCGGDGSSGS GDAHSWDTLL RKWEPVLRDC LLRNRRQMEV ISLRLKLQKL QEDAVENDDY DKAETLQQRL EDLEQEKISL HFQLPSRQPA LSSFLGHLAA QVQAALRRGA TQQASGDDTH TPLRMEPRLL EPTAQDSLHV SITRRDWLLQ EKQQLQKEIE ALQARMFVLE AKDQQLRREI EEQEQQLQWQ GCDLTPLVGQ LSLGQLQEVS KALQDTLASA GQIPFHAEPP ETIRSLQERI KSLNLSLKEI TTKVCMSEKF CSTLRKKVND IETQLPALLE AKMHAISGNH FWTAKDLTEE IRSLTSEREG LEGLLSKLLV LSSRNVKKLG SVKEDYNRLR REVEHQETAY ETSVKENTMK YMETLKNKLC SCKCPLLGKV WEADLEACRL LIQSLQLQEA RGSLSVEDER QMDDLEGAAP PIPPRLHSED KRKTPLKVLE EWKTHLIPSL HCAGGEQKEE SYILSAELGE KCEDIGKKLL YLEDQLHTAI HSHDEDLIQS LRRELQMVKE TLQAMILQLQ PAKEAGEREA AASCMTAGVH EAQA //