HUMAN:DISC1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	DISC1 (synonyms: KIAA0457)
Protein Name(s)	Disrupted in schizophrenia 1 protein
External Links
UniProt	Q9NRI5
EMBL	AF222983 AF222987 AF222980 AJ506178 AJ506177 AB007926 FJ804174 FJ804178 FJ804180 FJ804182 FJ804184 FJ804186 FJ804190 FJ804191 FJ804196 FJ804197 FJ804199 FJ804200 FJ804203 FJ804204 FJ804205 FJ804208 FJ804212 AL626763 AL136171 AL161743 AL359543 AL445200 AL450284 AL626763 AL136171 AL359543 AL450284 AL626763 AL359543 AL450284 AL136171 AL161743 AL359543 AL445200 AL626763 AL450284 AL136171 AL359543 AL626763 AL359543 AL136171 AL161743 AL445200 AL450284 AL626763 AL359543 AL136171 AL450284 AL626763 AL359543 AL626763 AL136171 AL161743 AL359543 AL445200 AL450284 AL626763 AL136171 AL359543 AL450284 AL626763 AL161743 AL136171 AL359543 AL445200 AL450284 AL626763 AL445200 AL136171 AL161743 AL359543 AL450284 AL626763 AL751364
CCDS	CCDS31055.1 CCDS31056.1 CCDS53482.1 CCDS53483.1 CCDS53484.1 CCDS59205.1 CCDS59206.1 CCDS59207.1
PIR	T00071
RefSeq	NP_001012975.1 NP_001012976.1 NP_001012977.1 NP_001158011.1 NP_001158013.1 NP_001158016.1 NP_001158017.1 NP_001158018.1 NP_001158019.1 NP_001158027.1 NP_001158028.1 NP_061132.2
UniGene	Hs.13318
ProteinModelPortal	Q9NRI5
BioGrid	118061
DIP	DIP-33828N
IntAct	Q9NRI5
PhosphoSite	Q9NRI5
DMDM	160332362
MaxQB	Q9NRI5
PaxDb	Q9NRI5
PRIDE	Q9NRI5
Ensembl	ENST00000317586 ENST00000366633 ENST00000366636 ENST00000535983 ENST00000539444 ENST00000602281 ENST00000602700 ENST00000602713 ENST00000602822 ENST00000602873
GeneID	27185
KEGG	hsa:27185
UCSC	uc001hux.1 uc001huy.3 uc001huz.3 uc001hva.3 uc010pwf.2 uc010pwg.1 uc010pwk.1 uc010pwu.1 uc010pww.2 uc010pxc.1 uc010pxf.2
CTD	27185
GeneCards	GC01P231762
HGNC	HGNC:2888
HPA	CAB013016
MIM	181500 604906 605210
neXtProt	NX_Q9NRI5
Orphanet	3140
PharmGKB	PA27342
eggNOG	NOG76097
GeneTree	ENSGT00390000006176
HOGENOM	HOG000056668
HOVERGEN	HBG051360
InParanoid	Q9NRI5
KO	K16534
PhylomeDB	Q9NRI5
TreeFam	TF332357
GeneWiki	DISC1
GenomeRNAi	27185
NextBio	50024
PRO	PR:Q9NRI5
Proteomes	UP000005640
Bgee	Q9NRI5
ExpressionAtlas	Q9NRI5
Genevestigator	Q9NRI5
GO	GO:0030054 GO:0005813 GO:0036064 GO:0005874 GO:0005739 GO:0014069 GO:0045211 GO:0060070 GO:0021846 GO:0034613 GO:0021799 GO:0000226 GO:0051560 GO:0001764 GO:0002052 GO:2000060 GO:0030177 GO:0010975 GO:0090128 GO:0031929
InterPro	IPR026081 IPR009053
PANTHER	PTHR14332
SUPFAM	SSF46579

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
involved_in	GO:0032091	negative regulation of protein binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q811T9	P	has_regulation_target:(UniProtKB:P97924) has_regulation_target:(UniProtKB:Q99K10)	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:18762586^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0002609)	Seeded From UniProt	complete
part_of	GO:0097546	ciliary base	PMID:20531939^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	PMID:20531939^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:20531939^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0030177	positive regulation of Wnt signaling pathway	PMID:19303846^[3]	ECO:0000316	genetic interaction evidence used in manual assertion		P		Seeded From UniProt	Missing: with/from
part_of	GO:0005813	centrosome	PMID:18955030^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0002052	positive regulation of neuroblast proliferation	PMID:19303846^[3]	ECO:0000316	genetic interaction evidence used in manual assertion		P		Seeded From UniProt	Missing: with/from
involved_in	GO:0001764	neuron migration	PMID:19502360^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0000226	microtubule cytoskeleton organization	PMID:18955030^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005739	mitochondrion	PMID:20880836^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0045111	intermediate filament cytoskeleton	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0090724	central region of growth cone	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
involved_in	GO:0071539	protein localization to centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
involved_in	GO:0060998	regulation of dendritic spine development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
involved_in	GO:0051966	regulation of synaptic transmission, glutamatergic	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
involved_in	GO:0051602	response to electrical stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
involved_in	GO:0045773	positive regulation of axon extension	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
enables	GO:0044877	protein-containing complex binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	F		Seeded From UniProt	complete
part_of	GO:0044297	cell body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
part_of	GO:0030424	axon	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
part_of	GO:0030286	dynein complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
involved_in	GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
involved_in	GO:0021852	pyramidal neuron migration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
enables	GO:0019894	kinesin binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	F		Seeded From UniProt	complete
involved_in	GO:0010976	positive regulation of neuron projection development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
involved_in	GO:0010975	regulation of neuron projection development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
involved_in	GO:0007399	nervous system development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
part_of	GO:0005874	microtubule	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
part_of	GO:0005871	kinesin complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
part_of	GO:0005739	mitochondrion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	C		Seeded From UniProt	complete
involved_in	GO:0001954	positive regulation of cell-matrix adhesion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q810H6 ensembl:ENSRNOP00000054753	P		Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
	GO:0021846	cell proliferation in forebrain	PMID:22461775^[7]	ECO:0000269			P		Disc-1 mediated protein pathway affects the development of the cerebral cortex in various ways	complete CACAO 6454
involved_in	GO:0090128	regulation of synapse maturation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
enables	GO:0060090	molecular adaptor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	F		Seeded From UniProt	complete
involved_in	GO:0060070	canonical Wnt signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
involved_in	GO:0051560	mitochondrial calcium ion homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	C		Seeded From UniProt	complete
involved_in	GO:0034613	cellular protein localization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
involved_in	GO:0032091	negative regulation of protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
involved_in	GO:0031929	TOR signaling	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
involved_in	GO:0030177	positive regulation of Wnt signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
involved_in	GO:0021846	cell proliferation in forebrain	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
involved_in	GO:0021799	cerebral cortex radially oriented cell migration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
part_of	GO:0014069	postsynaptic density	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	C		Seeded From UniProt	complete
involved_in	GO:0010975	regulation of neuron projection development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
part_of	GO:0008021	synaptic vesicle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	C		Seeded From UniProt	complete
involved_in	GO:0002052	positive regulation of neuroblast proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
involved_in	GO:0001764	neuron migration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q811T9 ensembl:ENSMUSP00000112410	P		Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P		Seeded From UniProt	complete
involved_in	GO:0007399	nervous system development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0524	P		Seeded From UniProt	complete
part_of	GO:0030054	cell junction	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0965	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
involved_in	GO:0016055	Wnt signaling pathway	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0879	P		Seeded From UniProt	complete
part_of	GO:0045211	postsynaptic membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0628	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0005739	mitochondrion	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0496 UniProtKB-SubCell:SL-0173	C		Seeded From UniProt	complete
part_of	GO:0005874	microtubule	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0493	C		Seeded From UniProt	complete
part_of	GO:0045202	synapse	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0770	C		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206 UniProtKB-SubCell:SL-0090	C		Seeded From UniProt	complete
part_of	GO:0014069	postsynaptic density	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0297	C		Seeded From UniProt	complete
part_of	GO:0005815	microtubule organizing center	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0048	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Kamiya, A et al. (2008) Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. Arch. Gen. Psychiatry 65 996-1006 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 Marley, A & von Zastrow, M (2010) DISC1 regulates primary cilia that display specific dopamine receptors. PLoS ONE 5 e10902 PubMed GONUTS page
↑ ^3.0 ^3.1 Mao, Y et al. (2009) Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling. Cell 136 1017-31 PubMed GONUTS page
↑ ^4.0 ^4.1 Shimizu, S et al. (2008) DISC1-kendrin interaction is involved in centrosomal microtubule network formation. Biochem. Biophys. Res. Commun. 377 1051-6 PubMed GONUTS page
↑ Meyer, KD & Morris, JA (2009) Disc1 regulates granule cell migration in the developing hippocampus. Hum. Mol. Genet. 18 3286-97 PubMed GONUTS page
↑ Park, YU et al. (2010) Disrupted-in-schizophrenia 1 (DISC1) plays essential roles in mitochondria in collaboration with Mitofilin. Proc. Natl. Acad. Sci. U.S.A. 107 17785-90 PubMed GONUTS page
↑ Kamiya, A et al. (2012) DISC1 Pathway in Brain Development: Exploring Therapeutic Targets for Major Psychiatric Disorders. Front Psychiatry 3 25 PubMed GONUTS page

[PMID:18762586-1] Kamiya, A et al. (2008) Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. Arch. Gen. Psychiatry 65 996-1006 PubMed GONUTS page

[PMID:20531939-2] 2.0 ^2.1 ^2.2 Marley, A & von Zastrow, M (2010) DISC1 regulates primary cilia that display specific dopamine receptors. PLoS ONE 5 e10902 PubMed GONUTS page

[PMID:19303846-3] 3.0 ^3.1 Mao, Y et al. (2009) Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling. Cell 136 1017-31 PubMed GONUTS page

[PMID:18955030-4] 4.0 ^4.1 Shimizu, S et al. (2008) DISC1-kendrin interaction is involved in centrosomal microtubule network formation. Biochem. Biophys. Res. Commun. 377 1051-6 PubMed GONUTS page

[PMID:19502360-5] Meyer, KD & Morris, JA (2009) Disc1 regulates granule cell migration in the developing hippocampus. Hum. Mol. Genet. 18 3286-97 PubMed GONUTS page

[PMID:20880836-6] Park, YU et al. (2010) Disrupted-in-schizophrenia 1 (DISC1) plays essential roles in mitochondria in collaboration with Mitofilin. Proc. Natl. Acad. Sci. U.S.A. 107 17785-90 PubMed GONUTS page

[PMID:22461775-7] Kamiya, A et al. (2012) DISC1 Pathway in Brain Development: Exploring Therapeutic Targets for Major Psychiatric Disorders. Front Psychiatry 3 25 PubMed GONUTS page

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HUMAN:DISC1

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