DISC1
entrez
27185
canonical
uniprot
Q9NRI5
canonical
ensembl
ENSG00000162946
resolver
ensp
ENSP00000295051
resolver
ensp
ENSP00000320784
resolver
ensp
ENSP00000355593
resolver
ensp
ENSP00000355596
resolver
ensp
ENSP00000355597
resolver
ensp
ENSP00000403888
resolver
ensp
ENSP00000440953
resolver
ensp
ENSP00000443996
resolver
ensp
ENSP00000473386
resolver
ensp
ENSP00000473417
resolver
ensp
ENSP00000473425
resolver
ensp
ENSP00000481791
resolver
ensp
ENSP00000487190
resolver
ensp
ENSP00000653050
resolver
ensp
ENSP00000653051
resolver
genesymbol
DISC1
resolver
genesymbol_syn
KIAA0457
resolver
hgnc
HGNC:2888
resolver
uniprot
A6NLH2
resolver
uniprot
C4P091
resolver
uniprot
C4P094
resolver
uniprot
C4P095
resolver
uniprot
C4P096
resolver
uniprot
C4P098
resolver
uniprot
C4P0A1
resolver
uniprot
C4P0A3
resolver
uniprot
C4P0A4
resolver
uniprot
C4P0A5
resolver
uniprot
C4P0B3
resolver
uniprot
C4P0B6
resolver
uniprot
C4P0C1
resolver
uniprot
C4P0C4
resolver
uniprot
C4P0C8
resolver
uniprot
C4P0D0
resolver
uniprot
C4P0D1
resolver
uniprot
C4P0D2
resolver
uniprot
C4P0D3
resolver
uniprot
C9J6D0
resolver
uniprot
O75045
resolver
uniprot
Q5VT44
resolver
uniprot
Q5VT45
resolver
uniprot
Q8IXJ0
resolver
uniprot
Q8IXJ1
resolver
uniprot
Q9BX19
resolver
uniprot
Q9NRI3
resolver
uniprot
Q9NRI4
resolver
uniprot_entry
C4P094_HUMAN
resolver
uniprot_entry
C4P096_HUMAN
resolver
uniprot_entry
C4P098_HUMAN
resolver
uniprot_entry
C4P0A4_HUMAN
resolver
uniprot_entry
C4P0A5_HUMAN
resolver
uniprot_entry
C4P0C4_HUMAN
resolver
uniprot_entry
C4P0C8_HUMAN
resolver
uniprot_entry
C4P0D0_HUMAN
resolver
uniprot_entry
C4P0D1_HUMAN
resolver
uniprot_entry
C4P0D2_HUMAN
resolver
uniprot_entry
C4P0D3_HUMAN
resolver
uniprot_entry
DISC1_HUMAN
resolver
uniprot_sec
A6NLH2
resolver
uniprot_sec
C4P091
resolver
uniprot_sec
C4P095
resolver
uniprot_sec
C4P0A1
resolver
uniprot_sec
C4P0A3
resolver
uniprot_sec
C4P0B3
resolver
uniprot_sec
C4P0B6
resolver
uniprot_sec
C4P0C1
resolver
uniprot_sec
C9J6D0
resolver
uniprot_sec
O75045
resolver
uniprot_sec
Q5VT44
resolver
uniprot_sec
Q5VT45
resolver
uniprot_sec
Q8IXJ0
resolver
uniprot_sec
Q8IXJ1
resolver
uniprot_sec
Q9BX19
resolver
uniprot_sec
Q9NRI3
resolver
uniprot_sec
Q9NRI4
resolver
amino_acid_sequence
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSESRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASWEAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQSPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGSGDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPALSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLEAKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAGVHEAQA
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving DISC1 segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Translocation t(1;11)(q42.1;q14.3). The truncated DISC1 protein produced by this translocation is unable to interact with ATF4, ATF5 and NDEL1.; DISEASE: Schizophrenia 9 (SCZD9) [MIM:604906]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269|PubMed:11468279, ECO:0000269|PubMed:14532331, ECO:0000269|PubMed:15386212, ECO:0000269|PubMed:15939883}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
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 adult dentate gyrus of the hippocampus (By similarity). Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance (PubMed:19303846). Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation (By similarity). Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A (By similarity). Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development (PubMed:19502360). Inhibits ATF4 transcription factor activity in neurons by disrupting ATF4 dimerization and DNA-binding (By similarity). Plays a role, together with PCNT, in the microtubule network formation (PubMed:18955030). {ECO:0000250|UniProtKB:Q811T9, ECO:0000269|PubMed:18955030, ECO:0000269|PubMed:19303846, ECO:0000269|PubMed:19502360}.
uniprot
proteins
mass_dalton
93611
uniprot
proteins
mutagenesis
MUTAGEN 372; /note="K->R: Reduced ubiquitination."; /evidence="ECO:0000269|PubMed:28727686"; MUTAGEN 815; /note="L->P: Impairs interaction with NDEL1; when associated with P-822."; /evidence="ECO:0000269|PubMed:14962739"; MUTAGEN 822; /note="L->P: Impairs interaction with NDEL1; when associated with P-815."; /evidence="ECO:0000269|PubMed:14962739
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. Ubiquitination with 'Lys-48'-linked polyubiquitin chains leads to its proteasomal degradation. {ECO:0000269|PubMed:28727686}.
uniprot
proteins
pubmed
10814723
uniprot
proteins
pubmed
11468279
uniprot
proteins
pubmed
12506198
uniprot
proteins
pubmed
12573262
uniprot
proteins
pubmed
12812986
uniprot
proteins
pubmed
14532331
uniprot
proteins
pubmed
14962739
uniprot
proteins
pubmed
15386212
uniprot
proteins
pubmed
15797709
uniprot
proteins
pubmed
15939883
uniprot
proteins
pubmed
16510495
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17035248
uniprot
proteins
pubmed
17389905
uniprot
proteins
pubmed
17519386
uniprot
proteins
pubmed
18955030
uniprot
proteins
pubmed
19303846
uniprot
proteins
pubmed
19502360
uniprot
proteins
pubmed
19805229
uniprot
proteins
pubmed
22228767
uniprot
proteins
pubmed
28727686
uniprot
proteins
pubmed
9455484
uniprot
proteins
sequence_length
854
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12506198, ECO:0000269|PubMed:15797709}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:14962739, ECO:0000269|PubMed:15797709}. Mitochondrion {ECO:0000269|PubMed:12506198, ECO:0000269|PubMed:15797709}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:12812986, ECO:0000269|PubMed:18955030}. Postsynaptic density {ECO:0000250|UniProtKB:Q811T9}. Note=Colocalizes with NDEL1 in the perinuclear region and the centrosome (By similarity). Localizes to punctate cytoplasmic foci which overlap in part with mitochondria (PubMed:12506198, PubMed:15797709). Colocalizes with PCNT at the centrosome (PubMed:18955030). {ECO:0000250|UniProtKB:Q811T9, ECO:0000269|PubMed:12506198, ECO:0000269|PubMed:15797709, ECO:0000269|PubMed:18955030}.
uniprot
proteins