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DISC1
HPA
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  • SUMMARY

  • TISSUE

  • BRAIN

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  • STRUCT & INT

  • DISC1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

DISC1
Synonyms
Gene descriptioni

Full gene name according to HGNC.

DISC1 scaffold protein
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 1
Cytoband q42.2
Chromosome location (bp) 231626790 - 232041272
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

13
Ensembl ENSG00000162946 (version 109)
Entrez gene 27185
HGNC HGNC:2888
UniProt Q9NRI5 (UniProt - Evidence at protein level)
neXtProt NX_Q9NRI5
GeneCards DISC1
Antibodypedia DISC1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Involved in the regulation of multiple aspects of embryonic and adult neurogenesis 1, 2. 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 3. 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 4. 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 5.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Developmental protein
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Neurogenesis, Wnt signaling pathway
Gene summary (Entrez)i

Useful information about the gene from 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 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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
DISC1-202
ENSP00000320784
ENST00000317586
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0007399 [nervous system development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0032091 [negative regulation of protein binding]
GO:0042802 [identical protein binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0060271 [cilium assembly]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:1905515 [non-motile cilium assembly]
Show all
369 aa
38.6 kDa
No 0
DISC1-204
ENSP00000355593
ENST00000366633
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0007399 [nervous system development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0032091 [negative regulation of protein binding]
GO:0042802 [identical protein binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0060271 [cilium assembly]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:1905515 [non-motile cilium assembly]
Show all
755 aa
82.3 kDa
No 0
DISC1-205
ENSP00000355596
ENST00000366636
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0007399 [nervous system development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0032091 [negative regulation of protein binding]
GO:0042802 [identical protein binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0060271 [cilium assembly]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:1905515 [non-motile cilium assembly]
Show all
678 aa
73.9 kDa
No 0
DISC1-206
ENSP00000355597
ENST00000366637
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0007399 [nervous system development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0032091 [negative regulation of protein binding]
GO:0042802 [identical protein binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0060271 [cilium assembly]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:1905515 [non-motile cilium assembly]
Show all
832 aa
91.1 kDa
No 0
DISC1-209
ENSP00000403888
ENST00000439617
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0001954 [positive regulation of cell-matrix adhesion]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005783 [endoplasmic reticulum]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005871 [kinesin complex]
GO:0005874 [microtubule]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0007399 [nervous system development]
GO:0008021 [synaptic vesicle]
GO:0008104 [protein localization]
GO:0010975 [regulation of neuron projection development]
GO:0010976 [positive regulation of neuron projection development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0019894 [kinesin binding]
GO:0021799 [cerebral cortex radially oriented cell migration]
GO:0021846 [cell proliferation in forebrain]
GO:0021852 [pyramidal neuron migration to cerebral cortex]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0030286 [dynein complex]
GO:0030424 [axon]
GO:0031929 [TOR signaling]
GO:0032091 [negative regulation of protein binding]
GO:0036064 [ciliary basal body]
GO:0042802 [identical protein binding]
GO:0044297 [cell body]
GO:0044877 [protein-containing complex binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0045773 [positive regulation of axon extension]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051560 [mitochondrial calcium ion homeostasis]
GO:0051602 [response to electrical stimulus]
GO:0051966 [regulation of synaptic transmission, glutamatergic]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060090 [molecular adaptor activity]
GO:0060271 [cilium assembly]
GO:0060998 [regulation of dendritic spine development]
GO:0070050 [neuron cellular homeostasis]
GO:0071539 [protein localization to centrosome]
GO:0090128 [regulation of synapse maturation]
GO:0090724 [central region of growth cone]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:0099175 [regulation of postsynapse organization]
GO:1905515 [non-motile cilium assembly]
GO:2000060 [positive regulation of ubiquitin-dependent protein catabolic process]
Show all
854 aa
93.6 kDa
No 0
DISC1-212
ENSP00000443996
ENST00000535983
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0007399 [nervous system development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0032091 [negative regulation of protein binding]
GO:0042802 [identical protein binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0060271 [cilium assembly]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:1905515 [non-motile cilium assembly]
Show all
695 aa
75.5 kDa
No 0
DISC1-213
ENSP00000440909
ENST00000537876
C4P0B1
[Direct mapping] Disrupted in schizophrenia 1 isoform 24; Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
GO:0045111 [intermediate filament cytoskeleton]
Show all
622 aa
67.1 kDa
No 0
DISC1-214
ENSP00000440953
ENST00000539444
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0007399 [nervous system development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0032091 [negative regulation of protein binding]
GO:0042802 [identical protein binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0060271 [cilium assembly]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:1905515 [non-motile cilium assembly]
Show all
579 aa
62.5 kDa
No 0
DISC1-215
ENSP00000473425
ENST00000602281
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0007399 [nervous system development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0032091 [negative regulation of protein binding]
GO:0042802 [identical protein binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0060271 [cilium assembly]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:1905515 [non-motile cilium assembly]
Show all
662 aa
72 kDa
No 0
DISC1-220
ENSP00000473386
ENST00000602873
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0007399 [nervous system development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0032091 [negative regulation of protein binding]
GO:0042802 [identical protein binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0060271 [cilium assembly]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:1905515 [non-motile cilium assembly]
Show all
201 aa
22.2 kDa
No 0
DISC1-221
ENSP00000482174
ENST00000620189
A0A087WYX6
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Protein evidence (Ezkurdia et al 2014)
Show all
732 aa
79.7 kDa
No 0
DISC1-222
ENSP00000481791
ENST00000622252
C4P0A0
[Direct mapping] Disrupted in schizophrenia 1 isoform 12; Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Protein evidence (Ezkurdia et al 2014)
Show all
442 aa
46.8 kDa
No 0
DISC1-223
ENSP00000487190
ENST00000628350
Q9NRI5
[Direct mapping] Disrupted in schizophrenia 1 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001764 [neuron migration]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005813 [centrosome]
GO:0005815 [microtubule organizing center]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005874 [microtubule]
GO:0007399 [nervous system development]
GO:0014069 [postsynaptic density]
GO:0016055 [Wnt signaling pathway]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0032091 [negative regulation of protein binding]
GO:0042802 [identical protein binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045202 [synapse]
GO:0060271 [cilium assembly]
GO:0097546 [ciliary base]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:1905515 [non-motile cilium assembly]
Show all
559 aa
60.3 kDa
No 0

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