Homo sapiens Gene: DISC1
Summary
InnateDB Gene IDBG-107439.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol DISC1
Gene Name disrupted in schizophrenia 1
Synonyms C1orf136; SCZD9;
Species Homo sapiens
Ensembl Gene ENSG00000162946
Encoded Proteins
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
disrupted in schizophrenia 1
Protein Structure
Entrez Gene
Summary This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:231762561-232177018
Strand Forward strand
Band q42.2
Transcripts
ENST00000366637 ENSP00000355597
ENST00000295051 ENSP00000295051
ENST00000366636 ENSP00000355596
ENST00000317586 ENSP00000320784
ENST00000366633 ENSP00000355593
ENST00000366632 ENSP00000355592
ENST00000439617 ENSP00000403888
ENST00000422590 ENSP00000415147
ENST00000427560 ENSP00000406646
ENST00000468399
ENST00000535983 ENSP00000443996
ENST00000537876 ENSP00000440909
ENST00000539444 ENSP00000440953
ENST00000535944 ENSP00000441193
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 217 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 217 [view]
Protein-Protein 217 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0001764 neuron migration
GO:0002052 positive regulation of neuroblast proliferation
GO:0010975 regulation of neuron projection development
GO:0021799 cerebral cortex radially oriented cell migration
GO:0021846 cell proliferation in forebrain
GO:0030177 positive regulation of Wnt receptor signaling pathway
GO:0031929 TOR signaling cascade
GO:0051560 mitochondrial calcium ion homeostasis
GO:0051602 response to electrical stimulus
GO:0060070 canonical Wnt receptor signaling pathway
GO:0090128 regulation of synapse maturation
GO:2000060 positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005813 centrosome
GO:0005871 kinesin complex
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0030054 cell junction
GO:0033267 axon part
GO:0044297 cell body
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Cross-References
SwissProt Q9NRI5
TrEMBL B1AL60 B1AM64 C4P093 C4P0B0 C4P0C8 Q5T406 Q5T409
UniProt Splice Variant
Entrez Gene 27185
UniGene Hs.609780
RefSeq NM_001012957 NM_001012958 NM_001012959 NM_001164539 NM_001164541 NM_001164544 NM_001164545 NM_001164546 NM_001164547 NM_018662
HUGO 2888
OMIM 605210
CCDS CCDS31055 CCDS31056 CCDS53482 CCDS53483 CCDS53484 CCDS53485
HPRD 05553
IMGT
EMBL AB007926 AF222980 AF222983 AF222987 AJ506177 AJ506178 AL136171 AL161743 AL359543 AL445200 AL450284 AL626763 AL751364 FJ804176 FJ804178 FJ804184 FJ804185 FJ804186 FJ804189 FJ804190 FJ804193 FJ804196 FJ804201 FJ804205 FJ804206 FJ804211
GenPept AAF73874 AAF73877 AAF73889 ACR40042 ACR40044 ACR40050 ACR40051 ACR40052 ACR40055 ACR40056 ACR40059 ACR40062 ACR40067 ACR40071 ACR40072 ACR40077 BAA32302 CAD44628 CAD44631 CAH70954 CAH70955 CAH70956 CAH70957 CAI15677 CAI15678 CAI15679 CAI17204 CAI17205 CAI17206 CAI17207 CAI17208 CAI21886 CAI21887 CAI21888 CAI21889 CAI22542 CAI22543 CAI22544 CAI22545 CAI23013 CAI23014
ImmGen DISC1 (murine)
RNA Seq Atlas 27185