Homo sapiens Gene: DISC1
Summary
InnateDB Gene IDBG-107439.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DISC1
Gene Name disrupted in schizophrenia 1
Synonyms
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
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
Useful resources Stemformatics EHFPI ImmGen
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 1:231626815-232041272
Strand Forward strand
Band q42.2
Transcripts
ENST00000366637 ENSP00000355597
ENST00000295051 ENSP00000295051
ENST00000366636 ENSP00000355596
ENST00000317586 ENSP00000320784
ENST00000366633 ENSP00000355593
ENST00000366632 ENSP00000355592
ENST00000439617 ENSP00000403888
ENST00000422590 ENSP00000415147
ENST00000427560
ENST00000468399
ENST00000535983 ENSP00000443996
ENST00000537876 ENSP00000440909
ENST00000539444 ENSP00000440953
ENST00000535944 ENSP00000441193
ENST00000602873 ENSP00000473386
ENST00000602700 ENSP00000473417
ENST00000602822 ENSP00000473586
ENST00000602281 ENSP00000473425
ENST00000602713 ENSP00000473261
ENST00000602600
ENST00000622252 ENSP00000481791
ENST00000620189 ENSP00000482174
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 140 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 140 [view]
Protein-Protein 140 [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:0008104 protein localization
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 signaling pathway
GO:0031929 TOR signaling
GO:0034613 cellular protein localization
GO:0051560 mitochondrial calcium ion homeostasis
GO:0060070 canonical Wnt 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:0005874 microtubule
GO:0014069 postsynaptic density
GO:0030054 cell junction
GO:0036064 ciliary basal 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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.609780
RefSeq NM_001012957 NM_001012958 NM_001012959 NM_001164537 NM_001164538 NM_001164539 NM_001164540 NM_001164541 NM_001164542 NM_001164544 NM_001164545 NM_001164548 NM_001164556 NM_018662
HUGO
OMIM
CCDS CCDS31055 CCDS31056 CCDS53482 CCDS53483 CCDS53484 CCDS59205 CCDS59206 CCDS59207
HPRD 05553
IMGT
EMBL
GenPept
RNA Seq Atlas