Reviewed, UniProtKB/Swiss-Prot Q9NRI5 (DISC1_HUMAN)

Names and origin

Protein names

Recommended name:
    Disrupted in schizophrenia 1 protein

Gene names

Name:	DISC1
Synonyms:	KIAA0457

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	854 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subunit structure	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. Ref.6 Ref.8 Ref.11
Subcellular location	Cytoplasm. Cytoplasm › cytoskeleton › 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. Ref.6 Ref.8 Ref.11 Ref.12
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.14
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.14
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. 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. Ref.5 Ref.7 Ref.10 Ref.13 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	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
Cellular component	Cytoplasm Cytoskeleton Microtubule
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Domain	Coiled coil
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	microtubule Inferred from electronic annotation. Source: UniProtKB-KW microtubule organizing center Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Ref.1 Ref.6 Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
	Q9NRD6	6	EBI-529989,EBI-928811
ACTN2	Q5VXF1	3	EBI-529989,EBI-928705
ANKHD1	Q8IWZ3-1	6	EBI-529989,EBI-1785446
ATF4	P18848	3	EBI-529989,EBI-492498
ATF5	Q9Y2D1	7	EBI-529989,EBI-492509
ATF7IP	Q6VMQ6	3	EBI-529989,EBI-928732
CCDC141	Q6ZP82	5	EBI-529989,EBI-928795
CDK5RAP3	Q96JB5	2	EBI-529989,EBI-718818
CEP63	Q96MT8	7	EBI-529989,EBI-741977
CLU	P10909	2	EBI-529989,EBI-1104674
COL6A2	P12110	3	EBI-529989,EBI-928749
DCTN2	Q13561	2	EBI-529989,EBI-715074
DST	O94833-2	2	EBI-529989,EBI-1019345
DYNC1H1	Q14204	2	EBI-529989,EBI-356015
EIF3H	O15372	7	EBI-529989,EBI-709735
IMMT	Q16891	2	EBI-529989,EBI-473801
ITSN1	Q15811	3	EBI-529989,EBI-602041
KIAA1377	Q9P2H0	2	EBI-529989,EBI-473176
KIF3A	Q9Y496	2	EBI-529989,EBI-1104844
MACF1	Q9UPN3	2	EBI-529989,EBI-522925
MAP1A	P78559	3	EBI-529989,EBI-929047
MYH7	P12883	2	EBI-529989,EBI-519141
NDEL1	Q9GZM8	9	EBI-529989,EBI-928842
OLFM1	Q99784	2	EBI-529989,EBI-1105073
PCNT	O95613	3	EBI-529989,EBI-530012
RANBP9	Q96S59	6	EBI-529989,EBI-636085
RASSF7	Q02833	2	EBI-529989,EBI-929013
SMARCE1	Q969G3	2	EBI-529989,EBI-455078
SNX6	Q9UNH7	2	EBI-529989,EBI-949294
SPTBN4	Q9H254	3	EBI-529989,EBI-308543
SYNE1	Q8NF91	6	EBI-529989,EBI-928867
YWHAZ	P63104	2	EBI-529989,EBI-347088

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 854	854	Disrupted in schizophrenia 1 protein		PRO_0000079916
Regions
	Region	1 – 292	292	Interaction with MAP1A
	Region	293 – 696	404	Interaction with TRAF3IP1
	Region	440 – 597	158	Required for localization to punctate cytoplasmic foci
	Region	598 – 854	257	Interaction with ATF4 and ATF5
	Region	727 – 854	128	Interaction with NDEL1 and PAFAH1B1
	Coiled coil	366 – 394	29	Potential
	Coiled coil	452 – 505	54	Potential
	Coiled coil	602 – 666	65	Potential
	Coiled coil	802 – 830	29	Potential
Natural variations
	Alternative sequence	350 – 369	20	VISLR…VENDD → LEPIALDPPWKPRHPEPNSY in isoform 4.		VSP_019314
	Alternative sequence	370 – 854	485	Missing in isoform 4.		VSP_019315
	Alternative sequence	661 – 678	18	ETSVK…TLKNK → GYKYCDAESWTQRSQQLA in isoform 3.		VSP_019316
	Alternative sequence	679 – 854	176	Missing in isoform 3.		VSP_019317
	Alternative sequence	748 – 769	22	Missing in isoform 2.		VSP_003849
	Natural variant	5	1	G → V: dbSNP rs3738400. Ref.10		VAR_030422
	Natural variant	116	1	A → V: dbSNP rs56020408.		VAR_061642
	Natural variant	264	1	R → Q: dbSNP rs3738401. Ref.1 Ref.2 Ref.3		VAR_022437
	Natural variant	328	1	T → N: dbSNP rs55795950.		VAR_061643
	Natural variant	330	1	L → F: dbSNP rs34622148.		VAR_050954
	Natural variant	531	1	G → R: dbSNP rs56229136.		VAR_061644
	Natural variant	607	1	L → F Associated with susceptibility to schizoaffective disorder. dbSNP rs6675281. Ref.10		VAR_026704
	Natural variant	704	1	S → C: dbSNP rs821616. Ref.13 Ref.1		VAR_022438
Experimental info
	Mutagenesis	815	1	L → P: Impairs interaction with NDEL1; when associated with P-822. Ref.11
	Mutagenesis	822	1	L → P: Impairs interaction with NDEL1; when associated with P-815. Ref.11

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (L) [UniParc]. Last modified November 13, 2007. Version 3. Checksum: 63C3FDF2F59830C6	FASTA	854	93,611
	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
	Isoform 2 (LV). Checksum: D114C31463B18770	FASTA	832	91,124
	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 KRKTPLKESY ILSAELGEKC EDIGKKLLYL EDQLHTAIHS 790 800 810 820 830 HDEDLIQSLR RELQMVKETL QAMILQLQPA KEAGEREAAA SCMTAGVHEA QA
	Isoform 3 (S). Checksum: F2E931A9DB718741	FASTA	678	73,916
	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 GYKYCDAESW TQRSQQLA
	Isoform 4 (ES). Checksum: 615ECB993C80B9CB	FASTA	369	38,585
	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 LLRNRRQMEL EPIALDPPWK PRHPEPNSY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Disruption of two novel genes by a schizophrenia-linked translocation." 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: 10814723] [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: 12573262] [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: 9455484] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-264. Tissue: Brain.
[4]	"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: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 11468279] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
[6]	"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: 12812986] [Abstract] Cited for: INTERACTION WITH ACTN2; ANKHD1; ATF4; ATF5; CEP63; EIF3S3; MAP1A; MICROTUBULES; NDEL1; RANBP9; SPTBN4; SYNE1 AND TRAF3IP1, SUBCELLULAR LOCATION.
[7]	"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: 14532331] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
[8]	"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: 12506198] [Abstract] Cited for: INTERACTION WITH NDEL1, SUBCELLULAR LOCATION.
[9]	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)
[10]	"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: 15386212] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9 AND SCHIZOAFFECTIVE DISORDER, VARIANTS VAL-5 AND PHE-607.
[11]	"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: 14962739] [Abstract] Cited for: INTERACTION WITH TUBULIN ALPHA; NDEL1 AND PAFAH1B1, SUBCELLULAR LOCATION, MUTAGENESIS OF LEU-815 AND LEU-822.
[12]	"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: 15797709] [Abstract] Cited for: SUBCELLULAR LOCATION.
[13]	"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: 15939883] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9, VARIANT CYS-704.
[14]	"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: 16510495] [Abstract] Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
+	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. 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.
IPI	IPI00032896. IPI00217534. IPI00554636. IPI00935747.
PIR	T00071.
RefSeq	NP_001012975.1. NP_001012976.1. NP_001012977.1. NP_061132.2.
UniGene	Hs.13318
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NRI5. 101 interactions.
STRING	Q9NRI5.
Genome annotation databases
Ensembl	ENST00000439617; ENSP00000403888; ENSG00000162946; Homo sapiens. [Genome view]
GeneID	27185.
KEGG	hsa:27185.
UCSC	uc001hux.1. human. uc001huy.1. human. uc001huz.1. human. uc001hva.1. human.
Organism-specific databases
CTD	27185.
GeneCards	GC01P229829.
H-InvDB	HIX0022179.
HGNC	HGNC:2888. DISC1.
HPA	CAB013016.
MIM	181500. phenotype. 604906. phenotype. 605210. gene.
Orphanet	3140. Schizophrenia.
PharmGKB	PA27342.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG14289.
HOVERGEN	Q9NRI5.
Gene expression databases
ArrayExpress	Q9NRI5.
Bgee	Q9NRI5.
Genevestigator	Q9NRI5.
GermOnline	ENSG00000162946. Homo sapiens.
Family and domain databases
InterPro	IPR009053. Prefoldin. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	50024.
SOURCE	Search...

Entry information

Entry name

DISC1_HUMAN

Accession

Primary (citable) accession number: Q9NRI5
Secondary accession number(s): 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:	February 9, 2010
This is version 77 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.