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DISC1
HPA
RESOURCES
  • TISSUE
  • BRAIN
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Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • DISC1
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
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)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Photoreceptor cells - Visual perception (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Cell type enriched (Rod photoreceptor cells)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Retina - Visual perception (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Tissue enhanced (Retina)
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Intermediate filaments, Cytosol
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
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
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
DISC1-202
DISC1-204
DISC1-205
DISC1-206
DISC1-209
DISC1-212
DISC1-213
DISC1-214
DISC1-215
DISC1-220
DISC1-221
DISC1-222
DISC1-223
»

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
Off
Population
Clinical
Alphamissense variants:
Off
Benign
Pathogenic
Autorotate:
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On
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 Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
DISC1-202
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
369 aa
38.6 kDa
No 0
DISC1-204
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
755 aa
82.3 kDa
No 0
DISC1-205
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
678 aa
73.9 kDa
No 0
DISC1-206
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
832 aa
91.1 kDa
No 0
DISC1-209
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
854 aa
93.6 kDa
No 0
DISC1-212
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
695 aa
75.5 kDa
No 0
DISC1-213
C4P0B1
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
622 aa
67.1 kDa
No 0
DISC1-214
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
579 aa
62.5 kDa
No 0
DISC1-215
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
662 aa
72 kDa
No 0
DISC1-220
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
201 aa
22.2 kDa
No 0
DISC1-221
A0A087WYX6
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
732 aa
79.7 kDa
No 0
DISC1-222
C4P0A0
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
442 aa
46.8 kDa
No 0
DISC1-223
Q9NRI5
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
559 aa
60.3 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Retina - Visual perception

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 31
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACTN210661891
AKAP9252200
ATF517500
CEP170131534120
CEP6310282910
EIF3H212139417
GATAD2B1419401211
GRIPAP1448604
GSN51251840
IFT2017302510
IMMT8115720
ITSN115143440
MAP1A21510
MATR341411200
NDE135800
NDEL117632830
PAFAH1B1161727202
PDE4B13400
PDE4DIP5311650
PSPC1205322700
RANBP9212371110
RNF40111126390
SNX6482126
SPTAN19105570
SPTBN1373900
SPTBN422210
SYNE123600
TNIK3251830
TNKS7142207
TRAF3IP17121210
XRN2593510
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 105 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACTG12915661160
ACTN210661891
AGTPBP101110
AKAP9252200
ALMS1121220
ANGEL111114
ARIH25122208
ASB313600
ATF416352600
ATF517500
BICD113610
CCDC13612500
CCDC24029100
CEP170131534120
CEP350632083
CEP57L1027100
CEP6310282910
CLU483420
CRNKL112330230
CTR99734158
DCTN12015106220
DCTN2183535130
DHX36011500
DNAJC717365346
DPYSL2591803
DPYSL313500
DRD2041300
DST362000
DYNC1H1153758331
EEF2234790
EIF3H212139417
EPB41L3754430
EXOC119352400
GATAD2B1419401211
GNB12113493018
GNPTAB07000
GPRASP2324501
GRIPAP1448604
GSN51251840
HERC210769020
IFT2017302510
IMMT8115720
IPO94310716
ITSN115143440
KALRN02200
KHDRBS1172261150
KIF3A448312
KIF3C24211
KIFAP33161036
MACF1021500
MAP1A21510
MAP4K47426180
MATR341411200
MEMO1017000
MPPED1010018
NAV1041100
NDE135800
NDEL117632830
NUP160541909
NUP210129101
PAFAH1B1161727202
PCNT142000
PCNX401000
PDE4B13400
PDE4DIP5311650
PPM1E11110
PPP4R122910
PPP5C13162661
PSPC1205322700
RABGAP134825
RANBP9212371110
RGPD5123022
RGPD6020022
RNF40111126390
RRBP1131900
RTRAF681872
SMC2453250
SNX6482126
SPAG52411106
SPTAN19105570
SPTBN1373900
SPTBN422210
SRGAP227900
STX18123141924
SYNE123600
TFIP1122180391011
TNIK3251830
TNKS7142207
TNKS26151305
TRAF3IP17121210
TRIM27182335900
TRIM377324500
TRIO12810
TRIP11121403
TUBB201883082
TUBB2A9918130
TUBG11065483
UBR5558624
UTRN10717164
XPNPEP101401
XRN2593510
YWHAE23512438032412
YWHAQ8858310796
YWHAZ2201643373248
ZNF19703201
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 42
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACTN210661891
AIMP29335902
AKAP9252200
ATF517500
BORCS6133032022
CEP170131534120
CEP57112300
CEP6310282910
CIT001600
EIF3H212139417
FBXW79715003
FEZ1671800
GATAD2B1419401211
GRIPAP1448604
GSN51251840
IFT2017302510
IMMT8115720
ITSN115143440
MAP1A21510
MATR380112140
MATR341411200
NDE135800
NDEL117632830
PAFAH1B1161727202
PDE4B13400
PDE4DIP5311650
PSPC1205322700
RANBP9212371110
RANGAP19720223
RNF40111126390
SMARCE1235755280
SNX6482126
SPTAN19105570
SPTBN1373900
SPTBN422210
STX118801108
SYNE123600
TNIK3251830
TNKS7142207
TRAF3IP17121210
XRN2593510
ZNF36501200
Show allShow less
DISC1 has no defined protein interactions in OpenCell.
DISC1 has no defined protein interactions in BioPlex.
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

DISC1 is not a metabolic protein

Contact

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The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


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