ID DIS1_HUMAN STANDARD; PRT; 854 AA. AC Q9NRI5; Q9NRI3; Q9NRI4; O75045; Q9BX19; DT 15-JUN-2002 (Rel. 41, Created) DT 15-JUN-2002 (Rel. 41, Last sequence update) DT 15-JUN-2002 (Rel. 41, Last annotation update) DE Disrupted in schizophrenia 1 protein. GN DISC1 OR KIAA0457. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. (ISOFORM 1). RX MEDLINE=20275630; PubMed=10814723; 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 SEQUENCE FROM N.A. (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 SEQUENCE OF 662-808 FROM N.A. (ISOFORM 1). RA Coville G.; RL Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases. CC -!- ALTERNATIVE PRODUCTS: 2 isoforms; 1 (shown here) and 2; may be CC produced by alternative splicing. CC -!- TISSUE SPECIFICITY: Ubiquitous. CC -!- DISEASE: Involved in a t(1;11)(q42.1;q14.3) translocation which CC segregates with schizophrenia and related psychiatric disorders in CC a large Scottish family. 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; -. DR EMBL; AF222983; AAF73874.1; -. DR EMBL; AF222987; AAF73877.1; -. DR EMBL; AB007926; BAA32302.1; -. DR EMBL; AL161743; CAC36349.1; -. DR MIM; 605210; -. KW Coiled coil; Chromosomal translocation; Alternative splicing. FT DOMAIN 349 394 COILED COIL (POTENTIAL). FT DOMAIN 448 504 COILED COIL (POTENTIAL). FT DOMAIN 541 564 COILED COIL (POTENTIAL). FT DOMAIN 602 668 COILED COIL (POTENTIAL). FT DOMAIN 802 835 COILED COIL (POTENTIAL). FT VARSPLIC 748 769 MISSING (IN ISOFORM 2). FT CONFLICT 704 704 S -> C (IN REF. 1). SQ SEQUENCE 854 AA; 93582 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 //