Gene Gene information from NCBI Gene database.
Entrez ID 27185
Gene name DISC1 scaffold protein
Gene symbol DISC1
Synonyms (NCBI Gene)
C1orf136SCZD9
Chromosome 1
Chromosome location 1q42.2
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 disru
miRNA miRNA information provided by mirtarbase database.
317
miRTarBase ID miRNA Experiments Reference
MIRT023117 hsa-miR-124-3p Microarray 18668037
MIRT643487 hsa-miR-545-3p HITS-CLIP 23824327
MIRT643486 hsa-miR-622 HITS-CLIP 23824327
MIRT643485 hsa-miR-136-5p HITS-CLIP 23824327
MIRT643484 hsa-miR-6845-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ATF4 Unknown 12812986
ATF5 Unknown 12812986
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
69
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IMP 18955030
GO:0001764 Process Neuron migration IBA
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration IMP 19502360
GO:0001954 Process Positive regulation of cell-matrix adhesion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605210 2888 ENSG00000162946
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRI5
Protein name Disrupted in schizophrenia 1 protein
Protein function Involved in the regulation of multiple aspects of embryonic and adult neurogenesis (PubMed:19303846, PubMed:19502360). Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the
PDB 5V4B
Family and domains
Tissue specificity 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:0000269|PubMed:16510495}.
Sequence
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPA
VGTLFRFPGGVSGEESHHSESRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGI
QLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASWEAACSDGARRVRAAGSLPSA
ELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPG
SSSSLDPSLAGCGGDGSSGSGDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKL
QEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPALSSFLGHLAAQVQAALRRGA
TQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE
AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPP
ETIRSLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNH
FWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAY
ETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDER
QMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEESYILSAELGE
KCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREA
AASCMTAGVHEAQA
Sequence length 854
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
35
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs751229 -
DISC1-related disorder Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity rs367543098, rs773951758, rs1225043146, rs2546066166, rs997930434, rs2546092570, rs781439697, rs56020408, rs189133240, rs3738402, rs112054353, rs767632505, rs80264087, rs372352273, rs28930675
View all (19 more)
RCV003964954
RCV003404212
RCV003414585
RCV003400221
RCV003404661
RCV003414146
RCV003896797
RCV003909296
RCV003921552
RCV003974456
RCV003902022
RCV003977221
RCV003911531
RCV003913882
RCV003931555
RCV003959197
RCV003931395
RCV003924441
RCV003917368
RCV003982200
RCV003957163
RCV003959387
RCV003972208
RCV003933307
RCV003915822
RCV003905939
RCV003970847
RCV003960781
RCV003940574
RCV003975664
RCV003920604
RCV004751786
RCV003958307
RCV003958216
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32345670
Alzheimer Disease Inhibit 34981809
Anhedonia Associate 24934694
Anxiety Associate 25533973
Anxiety Disorders Associate 25533973
Asperger Syndrome Associate 19251251, 21569632
Autism Spectrum Disorder Associate 19606485
Autistic Disorder Associate 19251251, 21569632
Bipolar Disorder Associate 15386212, 19251251, 19300510, 19448849, 21091867, 21483430, 23032945, 25620115, 26301809, 28630456
Carcinoma Hepatocellular Associate 35833210