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UniProtKB - Q9NRI5 (DISC1_HUMAN)

Entry version 180 (25 May 2022)
Sequence version 3 (13 Nov 2007)
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Protein

Disrupted in schizophrenia 1 protein

Gene

DISC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in the regulation of multiple aspects of embryonic and adult neurogenesis (PubMed:19502360, PubMed:19303846).

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).

By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processNeurogenesis, Wnt signaling pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NRI5

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9NRI5

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9NRI5

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		Q9NRI5, Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Disrupted in schizophrenia 1 proteinCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DISC1Imported
Synonyms:KIAA0457
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2888, DISC1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605210, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NRI5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000162946

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton, Microtubule, Mitochondrion, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

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.
Schizophrenia 9 (SCZD9)4 Publications
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi372K → R: Reduced ubiquitination. 1 Publication1
Mutagenesisi815L → P: Impairs interaction with NDEL1; when associated with P-822. 1 Publication1
Mutagenesisi822L → P: Impairs interaction with NDEL1; when associated with P-815. 1 Publication1

Keywords - Diseasei

Schizophrenia

Organism-specific databases

DisGeNET

More...DisGeNETi		27185

MalaCards human disease database

More...MalaCardsi		DISC1
MIMi604906, phenotype

Open Targets

More...OpenTargetsi		ENSG00000162946

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		171703, Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27342

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NRI5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DISC1

Domain mapping of disease mutations (DMDM)

More...DMDMi		160332362

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000799161 – 854Disrupted in schizophrenia 1 proteinAdd BLAST854

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki372Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated. Ubiquitination with 'Lys-48'-linked polyubiquitin chains leads to its proteasomal degradation.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NRI5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NRI5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NRI5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NRI5

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NRI5

PeptideAtlas

More...PeptideAtlasi		Q9NRI5

PRoteomics IDEntifications database

More...PRIDEi		Q9NRI5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82365 [Q9NRI5-1]
82366 [Q9NRI5-2]
82367 [Q9NRI5-3]
82368 [Q9NRI5-4]
82369 [Q9NRI5-5]
82370 [Q9NRI5-6]
82371 [Q9NRI5-7]
82372 [Q9NRI5-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NRI5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NRI5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Highly expressed in the dentate gyrus of the hippocampus. Also expressed in the temporal and parahippocampal cortices and cells of the white matter.1 Publication

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expression rises within the dentate gyrus and temporal cortex from the neonatal period to infancy, declines markedly in adolescence, and declines further with aging.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000162946, Expressed in sural nerve and 163 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NRI5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NRI5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000162946, Tissue enhanced (retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NDEL1 (PubMed:12506198).

Interacts with CCDC88A (via C-terminus); the interaction is direct.

Interacts with GSK3B (By similarity).

Interacts with tubulin alpha, ACTN2, ANKHD1, ATF4, ATF5, CEP63, EIF3S3, MAP1A, NDEL1, PAFAH1B1, RANBP9, SPTBN4, SYNE1 and TRAF3IP1 (PubMed:12812986). Interaction with microtubules may be mediated in part by TRAF3IP1.

Interacts (via C-terminal) with PCNT (PubMed:18955030).

Interacts with CHCHD6 (PubMed:22228767).

Interacts with CCDC141 (By similarity).

Interacts with FBXW7, the substrate-recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex; the interaction targets DISC1 for proteasomal degradation (PubMed:28727686).

Interacts with ZNF365 (PubMed:17389905).

Interacts with ATF4; inhibiting ATF4 transcription factor activity by disrupting ATF4 dimerization and DNA-binding (By similarity).

Interacts with PDE4B (isoform PDE4B5) (PubMed:17519386).

By similarity9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9NRI5
With#Exp.IntAct
ACTN2 [P35609]4EBI-529989,EBI-77797
AKAP9 [Q99996]2EBI-529989,EBI-1048311
ANKHD1 - isoform 1 [Q8IWZ3-1]6EBI-529989,EBI-1785446
ATF4 [P18848]4EBI-529989,EBI-492498
ATF5 [Q9Y2D1]8EBI-529989,EBI-492509
ATF7IP [Q6VMQ6]3EBI-529989,EBI-928732
CCDC141 [Q6ZP82]5EBI-529989,EBI-928795
CEP170 [Q5SW79]4EBI-529989,EBI-1104799
CEP63 [Q96MT8]7EBI-529989,EBI-741977
CLU [P10909]4EBI-529989,EBI-1104674
COL6A2 [P12110]3EBI-529989,EBI-928749
itself4EBI-529989,EBI-529989
DNAJC7 [Q99615]3EBI-529989,EBI-357552
DRD2 [P14416]3EBI-529989,EBI-2928178
DST [Q03001]4EBI-529989,EBI-310758
DYNC1H1 [Q14204]4EBI-529989,EBI-356015
EIF3H [O15372]6EBI-529989,EBI-709735
GATAD2B [Q8WXI9]3EBI-529989,EBI-923440
GRIPAP1 [Q4V328]5EBI-529989,EBI-717919
GSN [P06396]2EBI-529989,EBI-351506
IMMT [Q16891]3EBI-529989,EBI-473801
ITSN1 [Q15811]4EBI-529989,EBI-602041
KIF3A [Q9Y496]5EBI-529989,EBI-1104844
KIF3C [O14782]3EBI-529989,EBI-1104854
KPNB1 [Q14974]2EBI-529989,EBI-286758
MACF1 [Q9UPN3]4EBI-529989,EBI-522925
MAP1A [P78559]3EBI-529989,EBI-929047
MAP4K4 [O95819]2EBI-529989,EBI-2511133
MATR3 [P43243]3EBI-529989,EBI-352602
NDE1 [Q9NXR1]4EBI-529989,EBI-941227
NDEL1 [Q9GZM8]12EBI-529989,EBI-928842
NUP160 [Q12769]3EBI-529989,EBI-295715
NUP210 [Q8TEM1]2EBI-529989,EBI-372826
PAFAH1B1 [P43034]2EBI-529989,EBI-720620
PCNT [O95613]5EBI-529989,EBI-530012
PDE4DIP [Q5VU43]3EBI-529989,EBI-1105124
RANBP9 [Q96S59]7EBI-529989,EBI-636085
SPTAN1 [Q13813]3EBI-529989,EBI-351450
SPTBN1 [Q01082]4EBI-529989,EBI-351561
SPTBN4 [Q9H254]3EBI-529989,EBI-308543
SYNE1 [Q8NF91]7EBI-529989,EBI-928867
TFIP11 [Q9UBB9]3EBI-529989,EBI-1105213
TNIK [Q9UKE5]4EBI-529989,EBI-1051794
TNKS2 [Q9H2K2]2EBI-529989,EBI-4398527
TRAF3IP1 [Q8TDR0]9EBI-529989,EBI-928811
TRIO [O75962]3EBI-529989,EBI-718519
XRN2 [Q9H0D6]3EBI-529989,EBI-372110
YWHAE [P62258]3EBI-529989,EBI-356498
YWHAZ [P63104]3EBI-529989,EBI-347088
Cep170 [Q6A065] from Mus musculus.2EBI-529989,EBI-2554140
Gripap1 [Q8VD04] from Mus musculus.2EBI-529989,EBI-7585099
Mad2l1 [Q9Z1B5] from Mus musculus.2EBI-529989,EBI-2552918
Nde1 [Q9CZA6] from Mus musculus.2EBI-529989,EBI-309934
Ndel1 [Q9ERR1] from Mus musculus.2EBI-529989,EBI-646668
Isoform 1 [Q9NRI5-1]
With#Exp.IntAct
EIF3H [O15372]3EBI-15881455,EBI-709735
IMMT - isoform 1 [Q16891-1]9EBI-15881455,EBI-11614103
MACF1 [Q9UPN3]3EBI-15881455,EBI-522925
NDEL1 [Q9GZM8]4EBI-15881455,EBI-928842
OLFM1 [Q99784]3EBI-15881455,EBI-1105073
Isoform 2 [Q9NRI5-2]
With#Exp.IntAct
ABI2 - isoform 2 [Q9NYB9-2]3EBI-11988027,EBI-11096309
ADO [Q96SZ5]3EBI-11988027,EBI-11102284
AIMP2 [Q13155]3EBI-11988027,EBI-745226
AMOT [A2BDD9]3EBI-11988027,EBI-17286414
AP1M1 [Q9BXS5]3EBI-11988027,EBI-541426
ARMC7 [Q9H6L4]3EBI-11988027,EBI-742909
BAG2 [O95816]3EBI-11988027,EBI-355275
BFSP2 [Q13515]3EBI-11988027,EBI-10229433
BORCS6 [Q96GS4]4EBI-11988027,EBI-10193358
BRD1 [O95696]3EBI-11988027,EBI-714754
C1orf109 [Q9NX04]3EBI-11988027,EBI-8643161
C2CD6 [Q53TS8]3EBI-11988027,EBI-739879
C8orf33 [Q9H7E9]3EBI-11988027,EBI-715389
CARD9 - isoform 2 [Q9H257-2]3EBI-11988027,EBI-11530605
CCDC102B [Q68D86]3EBI-11988027,EBI-10171570
CCDC13 [Q8IYE1]3EBI-11988027,EBI-10961312
CCDC197 [Q8NCU1]3EBI-11988027,EBI-750686
CCDC57 - isoform 2 [Q2TAC2-2]3EBI-11988027,EBI-10961624
CCDC92 [Q53HC0]3EBI-11988027,EBI-719994
CCHCR1 - isoform 3 [Q8TD31-3]3EBI-11988027,EBI-10175300
CDC23 [Q9UJX2]3EBI-11988027,EBI-396137
CDC37 [Q16543]3EBI-11988027,EBI-295634
CDKL3 [Q8IVW4]3EBI-11988027,EBI-3919850
CEP57 - isoform 3 [Q86XR8-3]3EBI-11988027,EBI-11752486
CFAP206 [Q8IYR0]3EBI-11988027,EBI-749051
CTNNA3 - isoform 2 [Q9UI47-2]3EBI-11988027,EBI-11962928
CWF19L2 [Q2TBE0]3EBI-11988027,EBI-5453285
DDX6 [P26196]3EBI-11988027,EBI-351257
EIF4A3 [P38919]3EBI-11988027,EBI-299104
EMSY - isoform 5 [Q7Z589-5]3EBI-11988027,EBI-11989522
FBXO34 [Q9NWN3]3EBI-11988027,EBI-719816
FLACC1 - isoform 2 [Q96Q35-2]3EBI-11988027,EBI-11533409
GABARAPL1 [Q9H0R8]3EBI-11988027,EBI-746969
GAS2L2 [Q8NHY3]3EBI-11988027,EBI-7960826
GAS8 [O95995]3EBI-11988027,EBI-1052570
GCC1 [Q96CN9]3EBI-11988027,EBI-746252
GEM [P55040]3EBI-11988027,EBI-744104
GNG13 [Q9P2W3]3EBI-11988027,EBI-11427343
GPANK1 [O95872]3EBI-11988027,EBI-751540
GRIPAP1 [Q4V328]3EBI-11988027,EBI-717919
HNRNPC [P07910]3EBI-11988027,EBI-357966
IFT20 - isoform 3 [Q8IY31-3]3EBI-11988027,EBI-9091197
IFT74 - isoform 2 [Q96LB3-2]3EBI-11988027,EBI-12066130
KIF9 [Q9HAQ2]3EBI-11988027,EBI-8472129
KIFC3 - isoform 4 [Q9BVG8-5]3EBI-11988027,EBI-14069005
LENG1 [Q96BZ8]3EBI-11988027,EBI-726510
MNS1 [Q8NEH6]3EBI-11988027,EBI-743811
MORF4L2 [Q15014]3EBI-11988027,EBI-399257
NCK2 [O43639]3EBI-11988027,EBI-713635
NDEL1 [Q9GZM8]3EBI-11988027,EBI-928842
NECAB1 [Q8N987]3EBI-11988027,EBI-11956853
NME7 [Q9Y5B8]3EBI-11988027,EBI-744782
PHF1 [O43189]3EBI-11988027,EBI-530034
PIBF1 [Q4G0R1]3EBI-11988027,EBI-14066006
PIK3R3 [Q92569]3EBI-11988027,EBI-79893
PKN1 [Q16512]3EBI-11988027,EBI-602382
POLR3C [Q9BUI4]3EBI-11988027,EBI-5452779
PPFIA3 [O75145]3EBI-11988027,EBI-1763225
PSPC1 - isoform 2 [Q8WXF1-2]3EBI-11988027,EBI-12135327
QARS1 [P47897]3EBI-11988027,EBI-347462
RBM41 [Q96IZ5]3EBI-11988027,EBI-740773
RECK [Q6P9E2]3EBI-11988027,EBI-10253121
RNF40 [O75150]3EBI-11988027,EBI-744408
SMARCD1 [Q96GM5]3EBI-11988027,EBI-358489
SMARCE1 [Q969G3]3EBI-11988027,EBI-455078
SMC5 [Q8IY18]3EBI-11988027,EBI-605405
SMYD1 [Q8NB12]3EBI-11988027,EBI-8463848
SPATC1L - isoform 2 [Q9H0A9-2]3EBI-11988027,EBI-11995806
STX11 [O75558]4EBI-11988027,EBI-714135
SUFU [Q9UMX1]3EBI-11988027,EBI-740595
TCAF1 - isoform 2 [Q9Y4C2-2]3EBI-11988027,EBI-11974855
TCEANC - isoform 2 [Q8N8B7-2]3EBI-11988027,EBI-11955057
TRAF4 [Q9BUZ4]3EBI-11988027,EBI-3650647
TRIM29 [Q14134]3EBI-11988027,EBI-702370
TRIM68 [Q6AZZ1]3EBI-11988027,EBI-2130449
TSGA10 [Q9BZW7]3EBI-11988027,EBI-744794
TSR2 [Q969E8]3EBI-11988027,EBI-746981
TTC23 - isoform 3 [Q5W5X9-3]3EBI-11988027,EBI-9090990
UBASH3A - isoform 2 [P57075-2]3EBI-11988027,EBI-7353612
UBASH3B [Q8TF42]3EBI-11988027,EBI-1380492
USP2 [O75604]3EBI-11988027,EBI-743272
ZNF124 [Q15973]3EBI-11988027,EBI-2555767
ZNF76 [P36508]3EBI-11988027,EBI-7254550
Isoform 3 [Q9NRI5-3]
With#Exp.IntAct
Ccdc141 [A2AST1] from Mus musculus.6EBI-21925300,EBI-20565696

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		118061, 418 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9NRI5

Database of interacting proteins

More...DIPi		DIP-33828N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9NRI5

Protein interaction database and analysis system

More...IntActi		Q9NRI5, 949 interactors

Molecular INTeraction database

More...MINTi		Q9NRI5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000355593

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NRI5, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9NRI5

Small Angle Scattering Biological Data Bank

More...SASBDBi		Q9NRI5

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NRI5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 292Interaction with MAP1A1 PublicationAdd BLAST292
Regioni1 – 24DisorderedSequence analysisAdd BLAST24
Regioni179 – 205DisorderedSequence analysisAdd BLAST27
Regioni221 – 257DisorderedSequence analysisAdd BLAST37
Regioni278 – 323DisorderedSequence analysisAdd BLAST46
Regioni293 – 696Interaction with TRAF3IP11 PublicationAdd BLAST404
Regioni440 – 597Required for localization to punctate cytoplasmic fociAdd BLAST158
Regioni446 – 854Necessary and sufficient for interaction with PCNT and localization at the centrosome1 PublicationAdd BLAST409
Regioni598 – 854Interaction with ATF4 and ATF51 PublicationAdd BLAST257
Regioni716 – 739DisorderedSequence analysisAdd BLAST24
Regioni727 – 854Interaction with PAFAH1B11 PublicationAdd BLAST128
Regioni802 – 835Interaction with NDEL1Add BLAST34

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili366 – 394Sequence analysisAdd BLAST29
Coiled coili452 – 505Sequence analysisAdd BLAST54
Coiled coili602 – 666Sequence analysisAdd BLAST65
Coiled coili802 – 830Sequence analysisAdd BLAST29

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi197 – 203Interaction with FBXW71 Publication7

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502S3S3, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000006176

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_1514037_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NRI5

Identification of Orthologs from Complete Genome Data

More...OMAi		CMEDNHP

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NRI5

TreeFam database of animal gene trees

More...TreeFami		TF332357

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026081, DISC1

The PANTHER Classification System

More...PANTHERi		PTHR14332, PTHR14332, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (11+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 11 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist. More than 50 different isoforms are produced in the brain.

This entry has 11 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NRI5-1) [UniParc]FASTAAdd to basket
Also known as: L

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPGGGPQGAP AAAGGGGVSH RAGSRDCLPP AACFRRRRLA RRPGYMRSST 
        60         70         80         90        100
GPGIGFLSPA VGTLFRFPGG VSGEESHHSE SRARQCGLDS RGLLVRSPVS 
       110        120        130        140        150
KSAAAPTVTS VRGTSAHFGI QLRGGTRLPD RLSWPCGPGS AGWQQEFAAM 
       160        170        180        190        200
DSSETLDASW EAACSDGARR VRAAGSLPSA ELSSNSCSPG CGPEVPPTPP 
       210        220        230        240        250
GSHSAFTSSF SFIRLSLGSA GERGEAEGCP PSREAESHCQ SPQEMGAKAA 
       260        270        280        290        300
SLDGPHEDPR CLSRPFSLLA TRVSADLAQA ARNSSRPERD MHSLPDMDPG 
       310        320        330        340        350
SSSSLDPSLA GCGGDGSSGS GDAHSWDTLL RKWEPVLRDC LLRNRRQMEV 
       360        370        380        390        400
ISLRLKLQKL QEDAVENDDY DKAETLQQRL EDLEQEKISL HFQLPSRQPA 
       410        420        430        440        450
LSSFLGHLAA QVQAALRRGA TQQASGDDTH TPLRMEPRLL EPTAQDSLHV 
       460        470        480        490        500
SITRRDWLLQ EKQQLQKEIE ALQARMFVLE AKDQQLRREI EEQEQQLQWQ 
       510        520        530        540        550
GCDLTPLVGQ LSLGQLQEVS KALQDTLASA GQIPFHAEPP ETIRSLQERI 
       560        570        580        590        600
KSLNLSLKEI TTKVCMSEKF CSTLRKKVND IETQLPALLE AKMHAISGNH 
       610        620        630        640        650
FWTAKDLTEE IRSLTSEREG LEGLLSKLLV LSSRNVKKLG SVKEDYNRLR 
       660        670        680        690        700
REVEHQETAY ETSVKENTMK YMETLKNKLC SCKCPLLGKV WEADLEACRL 
       710        720        730        740        750
LIQSLQLQEA RGSLSVEDER QMDDLEGAAP PIPPRLHSED KRKTPLKVLE 
       760        770        780        790        800
EWKTHLIPSL HCAGGEQKEE SYILSAELGE KCEDIGKKLL YLEDQLHTAI 
       810        820        830        840        850
HSHDEDLIQS LRRELQMVKE TLQAMILQLQ PAKEAGEREA AASCMTAGVH 

EAQA
Note: Non-canonical donor and acceptor splice sites for the last 2 exons.Curated
Length:854
Mass (Da):93,611
Last modified:November 13, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i63C3FDF2F59830C6
GO
Isoform 2 (identifier: Q9NRI5-2) [UniParc]FASTAAdd to basket
Also known as: LV

The sequence of this isoform differs from the canonical sequence as follows:
     748-769: Missing.

Note: Non-canonical donor and acceptor splice sites for the last 2 exons.Curated
Show »
Length:832
Mass (Da):91,124
Checksum:iD114C31463B18770
GO
Isoform 3 (identifier: Q9NRI5-3) [UniParc]FASTAAdd to basket
Also known as: S

The sequence of this isoform differs from the canonical sequence as follows:
     661-678: ETSVKENTMKYMETLKNK → GYKYCDAESWTQRSQQLA
     679-854: Missing.

Show »
Length:678
Mass (Da):73,916
Checksum:iF2E931A9DB718741
GO
Isoform 4 (identifier: Q9NRI5-4) [UniParc]FASTAAdd to basket
Also known as: ES

The sequence of this isoform differs from the canonical sequence as follows:
     350-369: VISLRLKLQKLQEDAVENDD → LEPIALDPPWKPRHPEPNSY
     370-854: Missing.

Show »
Length:369
Mass (Da):38,585
Checksum:i615ECB993C80B9CB
GO
Isoform 5 (identifier: Q9NRI5-5) [UniParc]FASTAAdd to basket
Also known as: 26

The sequence of this isoform differs from the canonical sequence as follows:
     661-854: ETSVKENTMK...MTAGVHEAQA → DGVSLCRPVW...DMSHCAWPLQ

Show »
Length:755
Mass (Da):82,262
Checksum:iCC0C711A6F09B5CF
GO
Isoform 6 (identifier: Q9NRI5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     564-579: VCMSEKFCSTLRKKVN → ETISGRLKTSPRRLDH
     580-854: Missing.

Show »
Length:579
Mass (Da):62,517
Checksum:iA19C09EBDE0DD5E7
GO
Isoform 7 (identifier: Q9NRI5-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     545-559: SLQERIKSLNLSLKE → RNKCEGKYYEVHGNT
     560-579: Missing.
     580-854: Missing.

Show »
Length:559
Mass (Da):60,265
Checksum:i67B5E9B8316676B5
GO
Isoform 8 (identifier: Q9NRI5-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     661-695: ETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADL → AASVHCLGKCGKLTWKLVDCLSRAYSSRKPGEACL
     696-854: Missing.

Show »
Length:695
Mass (Da):75,534
Checksum:iFDB43855DAF36864
GO
Isoform 9 (identifier: Q9NRI5-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     661-662: ET → GR
     663-854: Missing.

Show »
Length:662
Mass (Da):72,013
Checksum:iD57BF408785D3455
GO
Isoform 10 (identifier: Q9NRI5-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-356: VISLRLK → LRRYNKD
     357-854: Missing.

Show »
Length:356
Mass (Da):37,192
Checksum:i29A0A4398A13A2C9
GO
Isoform 11 (identifier: Q9NRI5-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-372: Missing.
     545-551: SLQERIK → RKPFLDG
     552-854: Missing.

Show »
Length:201
Mass (Da):22,198
Checksum:i3981B6600BD44101
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C4P0B1C4P0B1_HUMAN
Disrupted in schizophrenia 1 isofor...
DISC1
622Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WYX6A0A087WYX6_HUMAN
Disrupted in schizophrenia 1 protei...
DISC1
732Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C4P093C4P093_HUMAN
Disrupted in schizophrenia 1 isofor...
DISC1
547Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C4P0A0C4P0A0_HUMAN
Disrupted in schizophrenia 1 isofor...
DISC1
442Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C4P0B0C4P0B0_HUMAN
Disrupted in schizophrenia 1 isofor...
DISC1
609Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C4P092C4P092_HUMAN
Disrupted in schizophrenia 1 isofor...
DISC1
382Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y7U2H0Y7U2_HUMAN
Disrupted in schizophrenia 1 protei...
DISC1
44Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA32302 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0304225G → V1 PublicationCorresponds to variant dbSNP:rs3738400Ensembl.1
Natural variantiVAR_061642116A → V. Corresponds to variant dbSNP:rs56020408Ensembl.1
Natural variantiVAR_022437264R → Q3 PublicationsCorresponds to variant dbSNP:rs3738401EnsemblClinVar.1
Natural variantiVAR_061643328T → N. Corresponds to variant dbSNP:rs55795950Ensembl.1
Natural variantiVAR_050954330L → F. Corresponds to variant dbSNP:rs34622148EnsemblClinVar.1
Natural variantiVAR_061644531G → R. Corresponds to variant dbSNP:rs56229136EnsemblClinVar.1
Natural variantiVAR_026704607L → F Associated with susceptibility to schizoaffective disorder. 1 PublicationCorresponds to variant dbSNP:rs6675281EnsemblClinVar.1
Natural variantiVAR_022438704S → C2 PublicationsCorresponds to variant dbSNP:rs821616Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04752523 – 372Missing in isoform 11. 1 PublicationAdd BLAST350
Alternative sequenceiVSP_019314350 – 369VISLR…VENDD → LEPIALDPPWKPRHPEPNSY in isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_047526350 – 356VISLRLK → LRRYNKD in isoform 10. 1 Publication7
Alternative sequenceiVSP_047527357 – 854Missing in isoform 10. 1 PublicationAdd BLAST498
Alternative sequenceiVSP_019315370 – 854Missing in isoform 4. 1 PublicationAdd BLAST485
Alternative sequenceiVSP_043583545 – 559SLQER…LSLKE → RNKCEGKYYEVHGNT in isoform 7. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_047528545 – 551SLQERIK → RKPFLDG in isoform 11. 1 Publication7
Alternative sequenceiVSP_047529552 – 854Missing in isoform 11. 1 PublicationAdd BLAST303
Alternative sequenceiVSP_043584560 – 579Missing in isoform 7. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_043585564 – 579VCMSE…RKKVN → ETISGRLKTSPRRLDH in isoform 6. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_043586580 – 854Missing in isoform 6 and isoform 7. 1 PublicationAdd BLAST275
Alternative sequenceiVSP_043214661 – 854ETSVK…HEAQA → DGVSLCRPVWSAVVRSCSLQ PLPPEFKQFSCLSLRSSWDY RCPPPCLANFVFLVEMGFYH VDQTGLKLLTSSDPPSSASQ SAGITDMSHCAWPLQ in isoform 5. 1 PublicationAdd BLAST194
Alternative sequenceiVSP_043587661 – 695ETSVK…WEADL → AASVHCLGKCGKLTWKLVDC LSRAYSSRKPGEACL in isoform 8. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_019316661 – 678ETSVK…TLKNK → GYKYCDAESWTQRSQQLA in isoform 3. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_047530661 – 662ET → GR in isoform 9. 1 Publication2
Alternative sequenceiVSP_047531663 – 854Missing in isoform 9. 1 PublicationAdd BLAST192
Alternative sequenceiVSP_019317679 – 854Missing in isoform 3. 1 PublicationAdd BLAST176
Alternative sequenceiVSP_043588696 – 854Missing in isoform 8. 1 PublicationAdd BLAST159
Alternative sequenceiVSP_003849748 – 769Missing in isoform 2. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF222983 Genomic DNA Translation: AAF73874.1
AF222987 Genomic DNA Translation: AAF73877.1
AF222980 mRNA Translation: AAF73889.1
AJ506178 mRNA Translation: CAD44628.1
AJ506177 mRNA Translation: CAD44631.1
AB007926 mRNA Translation: BAA32302.1 Different initiation.
FJ804174 mRNA Translation: ACR40040.1
FJ804178 mRNA Translation: ACR40044.1
FJ804180 mRNA Translation: ACR40046.1
FJ804182 mRNA Translation: ACR40048.1
FJ804184 mRNA Translation: ACR40050.1
FJ804186 mRNA Translation: ACR40052.1
FJ804190 mRNA Translation: ACR40056.1
FJ804191 mRNA Translation: ACR40057.1
FJ804196 mRNA Translation: ACR40062.1
FJ804197 mRNA Translation: ACR40063.1
FJ804199 mRNA Translation: ACR40065.1
FJ804200 mRNA Translation: ACR40066.1
FJ804203 mRNA Translation: ACR40069.1
FJ804204 mRNA Translation: ACR40070.1
FJ804205 mRNA Translation: ACR40071.1
FJ804208 mRNA Translation: ACR40074.1
FJ804212 mRNA Translation: ACR40078.1
AL136171 Genomic DNA No translation available.
AL161743 Genomic DNA No translation available.
AL359543 Genomic DNA No translation available.
AL450284 Genomic DNA No translation available.
AL445200 Genomic DNA No translation available.
AL626763 Genomic DNA No translation available.
AL751364 Genomic DNA No translation available.
KF455159 Genomic DNA No translation available.
KF455161 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31055.1 [Q9NRI5-3]
CCDS31056.1 [Q9NRI5-4]
CCDS53482.1 [Q9NRI5-5]
CCDS53483.1 [Q9NRI5-8]
CCDS53484.1 [Q9NRI5-6]
CCDS53485.1 [Q9NRI5-7]
CCDS59205.1 [Q9NRI5-9]
CCDS59206.1 [Q9NRI5-10]
CCDS59207.1 [Q9NRI5-11]
CCDS86058.1 [Q9NRI5-2]
CCDS86059.1 [Q9NRI5-1]

Protein sequence database of the Protein Information Resource

More...PIRi		T00071

NCBI Reference Sequences

More...RefSeqi		NP_001012975.1, NM_001012957.1 [Q9NRI5-2]
NP_001012976.1, NM_001012958.1 [Q9NRI5-4]
NP_001012977.1, NM_001012959.1 [Q9NRI5-3]
NP_001158011.1, NM_001164539.1 [Q9NRI5-5]
NP_001158013.1, NM_001164541.1 [Q9NRI5-8]
NP_001158016.1, NM_001164544.1 [Q9NRI5-9]
NP_001158017.1, NM_001164545.1 [Q9NRI5-6]
NP_001158018.1, NM_001164546.1 [Q9NRI5-7]
NP_001158019.1, NM_001164547.1 [Q9NRI5-7]
NP_001158027.1, NM_001164555.1 [Q9NRI5-10]
NP_001158028.1, NM_001164556.1 [Q9NRI5-11]
NP_061132.2, NM_018662.2 [Q9NRI5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000317586.8; ENSP00000320784.4; ENSG00000162946.23 [Q9NRI5-4]
ENST00000366633.7; ENSP00000355593.3; ENSG00000162946.23 [Q9NRI5-5]
ENST00000366636.8; ENSP00000355596.4; ENSG00000162946.23 [Q9NRI5-3]
ENST00000366637.8; ENSP00000355597.6; ENSG00000162946.23 [Q9NRI5-2]
ENST00000439617.8; ENSP00000403888.4; ENSG00000162946.23
ENST00000535983.5; ENSP00000443996.1; ENSG00000162946.23 [Q9NRI5-8]
ENST00000539444.5; ENSP00000440953.1; ENSG00000162946.23 [Q9NRI5-6]
ENST00000602281.5; ENSP00000473425.1; ENSG00000162946.23 [Q9NRI5-9]
ENST00000602700.5; ENSP00000473417.1; ENSG00000162946.23 [Q9NRI5-10]
ENST00000602713.5; ENSP00000473261.1; ENSG00000162946.23 [Q9NRI5-10]
ENST00000602822.5; ENSP00000473586.1; ENSG00000162946.23 [Q9NRI5-10]
ENST00000602873.5; ENSP00000473386.1; ENSG00000162946.23 [Q9NRI5-11]
ENST00000628350.2; ENSP00000487190.1; ENSG00000162946.23 [Q9NRI5-7]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		27185

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:27185

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000439617.8; ENSP00000403888.4; NM_018662.3; NP_061132.2

UCSC genome browser

More...UCSCi		uc001hux.1, human [Q9NRI5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF222983 Genomic DNA Translation: AAF73874.1
AF222987 Genomic DNA Translation: AAF73877.1
AF222980 mRNA Translation: AAF73889.1
AJ506178 mRNA Translation: CAD44628.1
AJ506177 mRNA Translation: CAD44631.1
AB007926 mRNA Translation: BAA32302.1 Different initiation.
FJ804174 mRNA Translation: ACR40040.1
FJ804178 mRNA Translation: ACR40044.1
FJ804180 mRNA Translation: ACR40046.1
FJ804182 mRNA Translation: ACR40048.1
FJ804184 mRNA Translation: ACR40050.1
FJ804186 mRNA Translation: ACR40052.1
FJ804190 mRNA Translation: ACR40056.1
FJ804191 mRNA Translation: ACR40057.1
FJ804196 mRNA Translation: ACR40062.1
FJ804197 mRNA Translation: ACR40063.1
FJ804199 mRNA Translation: ACR40065.1
FJ804200 mRNA Translation: ACR40066.1
FJ804203 mRNA Translation: ACR40069.1
FJ804204 mRNA Translation: ACR40070.1
FJ804205 mRNA Translation: ACR40071.1
FJ804208 mRNA Translation: ACR40074.1
FJ804212 mRNA Translation: ACR40078.1
AL136171 Genomic DNA No translation available.
AL161743 Genomic DNA No translation available.
AL359543 Genomic DNA No translation available.
AL450284 Genomic DNA No translation available.
AL445200 Genomic DNA No translation available.
AL626763 Genomic DNA No translation available.
AL751364 Genomic DNA No translation available.
KF455159 Genomic DNA No translation available.
KF455161 Genomic DNA No translation available.
CCDSiCCDS31055.1 [Q9NRI5-3]
CCDS31056.1 [Q9NRI5-4]
CCDS53482.1 [Q9NRI5-5]
CCDS53483.1 [Q9NRI5-8]
CCDS53484.1 [Q9NRI5-6]
CCDS53485.1 [Q9NRI5-7]
CCDS59205.1 [Q9NRI5-9]
CCDS59206.1 [Q9NRI5-10]
CCDS59207.1 [Q9NRI5-11]
CCDS86058.1 [Q9NRI5-2]
CCDS86059.1 [Q9NRI5-1]
PIRiT00071
RefSeqiNP_001012975.1, NM_001012957.1 [Q9NRI5-2]
NP_001012976.1, NM_001012958.1 [Q9NRI5-4]
NP_001012977.1, NM_001012959.1 [Q9NRI5-3]
NP_001158011.1, NM_001164539.1 [Q9NRI5-5]
NP_001158013.1, NM_001164541.1 [Q9NRI5-8]
NP_001158016.1, NM_001164544.1 [Q9NRI5-9]
NP_001158017.1, NM_001164545.1 [Q9NRI5-6]
NP_001158018.1, NM_001164546.1 [Q9NRI5-7]
NP_001158019.1, NM_001164547.1 [Q9NRI5-7]
NP_001158027.1, NM_001164555.1 [Q9NRI5-10]
NP_001158028.1, NM_001164556.1 [Q9NRI5-11]
NP_061132.2, NM_018662.2 [Q9NRI5-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5V4BX-ray2.60C193-207[»]
AlphaFoldDBiQ9NRI5
SASBDBiQ9NRI5
SMRiQ9NRI5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi118061, 418 interactors
CORUMiQ9NRI5
DIPiDIP-33828N
ELMiQ9NRI5
IntActiQ9NRI5, 949 interactors
MINTiQ9NRI5
STRINGi9606.ENSP00000355593

Protein family/group databases

MoonDBiQ9NRI5, Predicted

PTM databases

iPTMnetiQ9NRI5
PhosphoSitePlusiQ9NRI5

Genetic variation databases

BioMutaiDISC1
DMDMi160332362

Proteomic databases

EPDiQ9NRI5
jPOSTiQ9NRI5
MassIVEiQ9NRI5
MaxQBiQ9NRI5
PaxDbiQ9NRI5
PeptideAtlasiQ9NRI5
PRIDEiQ9NRI5
ProteomicsDBi82365 [Q9NRI5-1]
82366 [Q9NRI5-2]
82367 [Q9NRI5-3]
82368 [Q9NRI5-4]
82369 [Q9NRI5-5]
82370 [Q9NRI5-6]
82371 [Q9NRI5-7]
82372 [Q9NRI5-8]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34687, 643 antibodies from 39 providers

The DNASU plasmid repository

More...DNASUi		27185

Genome annotation databases

EnsembliENST00000317586.8; ENSP00000320784.4; ENSG00000162946.23 [Q9NRI5-4]
ENST00000366633.7; ENSP00000355593.3; ENSG00000162946.23 [Q9NRI5-5]
ENST00000366636.8; ENSP00000355596.4; ENSG00000162946.23 [Q9NRI5-3]
ENST00000366637.8; ENSP00000355597.6; ENSG00000162946.23 [Q9NRI5-2]
ENST00000439617.8; ENSP00000403888.4; ENSG00000162946.23
ENST00000535983.5; ENSP00000443996.1; ENSG00000162946.23 [Q9NRI5-8]
ENST00000539444.5; ENSP00000440953.1; ENSG00000162946.23 [Q9NRI5-6]
ENST00000602281.5; ENSP00000473425.1; ENSG00000162946.23 [Q9NRI5-9]
ENST00000602700.5; ENSP00000473417.1; ENSG00000162946.23 [Q9NRI5-10]
ENST00000602713.5; ENSP00000473261.1; ENSG00000162946.23 [Q9NRI5-10]
ENST00000602822.5; ENSP00000473586.1; ENSG00000162946.23 [Q9NRI5-10]
ENST00000602873.5; ENSP00000473386.1; ENSG00000162946.23 [Q9NRI5-11]
ENST00000628350.2; ENSP00000487190.1; ENSG00000162946.23 [Q9NRI5-7]
GeneIDi27185
KEGGihsa:27185
MANE-SelectiENST00000439617.8; ENSP00000403888.4; NM_018662.3; NP_061132.2
UCSCiuc001hux.1, human [Q9NRI5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		27185
DisGeNETi27185

GeneCards: human genes, protein and diseases

More...GeneCardsi		DISC1
HGNCiHGNC:2888, DISC1
HPAiENSG00000162946, Tissue enhanced (retina)
MalaCardsiDISC1
MIMi604906, phenotype
605210, gene
neXtProtiNX_Q9NRI5
OpenTargetsiENSG00000162946
Orphaneti171703, Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
PharmGKBiPA27342
VEuPathDBiHostDB:ENSG00000162946

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502S3S3, Eukaryota
GeneTreeiENSGT00390000006176
HOGENOMiCLU_1514037_0_0_1
InParanoidiQ9NRI5
OMAiCMEDNHP
PhylomeDBiQ9NRI5
TreeFamiTF332357

Enzyme and pathway databases

PathwayCommonsiQ9NRI5
SignaLinkiQ9NRI5
SIGNORiQ9NRI5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		27185, 7 hits in 1066 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DISC1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		27185
PharosiQ9NRI5, Tbio

Protein Ontology

More...PROi		PR:Q9NRI5
RNActiQ9NRI5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000162946, Expressed in sural nerve and 163 other tissues
ExpressionAtlasiQ9NRI5, baseline and differential
GenevisibleiQ9NRI5, HS

Family and domain databases

InterProiView protein in InterPro
IPR026081, DISC1
PANTHERiPTHR14332, PTHR14332, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDISC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NRI5
Secondary accession number(s): A6NLH2
, C4P091, C4P095, C4P0A1, C4P0A3, C4P0B3, C4P0B6, C4P0C1, C9J6D0, O75045, Q5VT44, Q5VT45, Q8IXJ0, Q8IXJ1, Q9BX19, Q9NRI3, Q9NRI4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 13, 2007
Last modified: May 25, 2022
This is version 180 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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