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Gene id 27185
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol DISC1   Gene   UCSC   Ensembl
Aliases C1orf136, SCZD9
Gene name DISC1 scaffold protein
Alternate names disrupted in schizophrenia 1 protein,
Gene location 1q42.2 (152769728: 152766135)     Exons: 3     NC_000023.11
Gene summary(Entrez) 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 disru
OMIM 605210

Protein Summary
Protein general information Q9NRI5  

Name: Disrupted in schizophrenia 1 protein

Length: 854  Mass: 93611

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. {ECO

Sequence MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEE
SHHSESRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAM
DSSETLDASWEAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGE
AEGCPPSREAESHCQSPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPG
SSSSLDPSLAGCGGDGSSGSGDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAET
LQQRLEDLEQEKISLHFQLPSRQPALSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHV
SITRRDWLLQEKQQLQKEIEALQARMFVLEAKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQD
TLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNH
FWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAYETSVKENTMKYMETL
KNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLE
EWKTHLIPSLHCAGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAM
ILQLQPAKEAGEREAAASCMTAGVHEAQA
Structural information
Interpro:  IPR026081  

PDB:  		 5V4B
PDBsum:   5V4B

DIP:  
33828
MINT:  
STRING:   ENSP00000355593
Other Databases GeneCards:  DISC1  Malacards:  DISC1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0032091 negative regulation of pr
otein binding
 ISS biological process
GO:0005813 centrosome
 IDA cellular component
GO:0097546 ciliary base
 IDA cellular component
GO:0005813 centrosome
 IDA cellular component
GO:1905515 non-motile cilium assembl
y
 IMP biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005813 centrosome
 IDA cellular component
GO:0030177 positive regulation of Wn
t signaling pathway
 IGI biological process
GO:0002052 positive regulation of ne
uroblast proliferation
 IGI biological process
GO:0001764 neuron migration
 IMP biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0000226 microtubule cytoskeleton
organization
 IMP biological process
GO:0030054 cell junction
 IEA cellular component
GO:0016055 Wnt signaling pathway
 IEA biological process
GO:0005737 cytoplasm
 IEA cellular component
GO:0005874 microtubule
 IEA cellular component
GO:0007399 nervous system developmen
t
 IEA biological process
GO:0005856 cytoskeleton
 IEA cellular component
GO:0007275 multicellular organism de
velopment
 IEA biological process
GO:0045202 synapse
 IEA cellular component
GO:0005739 mitochondrion
 IEA cellular component
GO:0005739 mitochondrion
 IDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0060998 regulation of dendritic s
pine development
 IEA biological process
GO:0060271 cilium assembly
 IEA biological process
GO:0048471 perinuclear region of cyt
oplasm
 IEA cellular component
GO:0045773 positive regulation of ax
on extension
 IEA biological process
GO:0044297 cell body
 IEA cellular component
GO:0030424 axon
 IEA cellular component
GO:0030286 dynein complex
 IEA cellular component
GO:0010975 regulation of neuron proj
ection development
 IEA biological process
GO:0090128 regulation of synapse mat
uration
 IEA biological process
GO:0051560 mitochondrial calcium ion
homeostasis
 IEA biological process
GO:0036064 ciliary basal body
 IEA cellular component
GO:0032091 negative regulation of pr
otein binding
 IEA biological process
GO:0030177 positive regulation of Wn
t signaling pathway
 IEA biological process
GO:0021846 cell proliferation in for
ebrain
 IEA biological process
GO:0021799 cerebral cortex radially
oriented cell migration
 IEA biological process
GO:0010975 regulation of neuron proj
ection development
 IEA biological process
GO:0008021 synaptic vesicle
 IEA cellular component
GO:0005813 centrosome
 IEA cellular component
GO:0002052 positive regulation of ne
uroblast proliferation
 IEA biological process
GO:0001764 neuron migration
 IEA biological process
GO:0005871 kinesin complex
 IEA cellular component
GO:0005829 cytosol
 IEA cellular component
GO:0005813 centrosome
 IEA cellular component
GO:0005783 endoplasmic reticulum
 IEA cellular component
GO:0001954 positive regulation of ce
ll-matrix adhesion
 IEA biological process
GO:0090724 central region of growth
cone
 IEA cellular component
GO:0071539 protein localization to c
entrosome
 IEA biological process
GO:0051966 regulation of synaptic tr
ansmission, glutamatergic
 IEA biological process
GO:0051602 response to electrical st
imulus
 IEA biological process
GO:0044877 protein-containing comple
x binding
 IEA molecular function
GO:0021852 pyramidal neuron migratio
n
 IEA biological process
GO:0019894 kinesin binding
 IEA molecular function
GO:0010976 positive regulation of ne
uron projection developme
nt
 IEA biological process
GO:2000060 positive regulation of ub
iquitin-dependent protein
catabolic process
 IEA biological process
GO:1905515 non-motile cilium assembl
y
 IEA biological process
GO:0060090 molecular adaptor activit
y
 IEA molecular function
GO:0060070 canonical Wnt signaling p
athway
 IEA biological process
GO:0034613 cellular protein localiza
tion
 IEA biological process
GO:0031929 TOR signaling
 IEA biological process
GO:0014069 postsynaptic density
 IEA cellular component
GO:0007399 nervous system developmen
t
 IEA biological process
GO:0005874 microtubule
 IEA cellular component
GO:0005739 mitochondrion
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005815 microtubule organizing ce
nter
 IEA cellular component
GO:0014069 postsynaptic density
 IEA cellular component
GO:0005739 mitochondrion
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005856 cytoskeleton
 IEA cellular component
GO:0045111 intermediate filament cyt
oskeleton
 IDA cellular component

Diseases

Expand All | Collapse All
Associated diseases References
Schizophrenia KEGG:H01649
Schizophrenia KEGG:H01649
Asperger syndrome PMID:18317464
autistic disorder PMID:18317464
autistic disorder PMID:21569632
Major depressive disorder PMID:15657124
Major depressive disorder PMID:16959794
Psychotic disorder PMID:10814723
Bipolar disorder PMID:15386212
Schizophrenia PMID:15657124
Schizophrenia PMID:18317464
Chronic fatigue syndrome PMID:20227423
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Male factor infertility MIK: 29961538
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
29961538 Male facto
r infertil
ity
318 (128 couple
s presenting wi
th OAT (MF) and
118 maternal a
ge-matched cont
rol (no MF) sub
jects undergoin
g infertility t
reatment, 72 su
rplus cryoprese
rved blastocyst
s)
 Male infertility RNA-seq
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
25753583 Unexplaine
d infertil
ity
46 (17 fertile
men, 29 male pa
tients)
 Male infertility Microarray
 Show abstract