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UniProtKB - Q9NRI5 (DISC1_HUMAN)

Protein

Disrupted in schizophrenia 1 protein

Gene

DISC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. 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. Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A. Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development. Plays a role, together with PCNT, in the microtubule network formation.3 Publications

GO - Biological processi

  • microtubule cytoskeleton organization Source: UniProtKB
  • negative regulation of protein binding Source: ARUK-UCL
  • neuron migration Source: UniProtKB
  • non-motile cilium assembly Source: SYSCILIA_CCNET
  • positive regulation of neuroblast proliferation Source: UniProtKB
  • positive regulation of Wnt signaling pathway Source: UniProtKB
  • Wnt signaling pathway Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein
Biological processNeurogenesis, Wnt signaling pathway

Enzyme and pathway databases

SIGNORiQ9NRI5

Protein family/group databases

MoonDBiQ9NRI5 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Disrupted in schizophrenia 1 protein
Gene namesi
Name:DISC1
Synonyms:KIAA0457
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162946.20
HGNCiHGNC:2888 DISC1
MIMi605210 gene
neXtProtiNX_Q9NRI5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Microtubule, Mitochondrion, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

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 variations 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.
See also OMIM:604906

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi27185
MalaCardsiDISC1
MIMi604906 phenotype
OpenTargetsiENSG00000162946
Orphaneti171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
PharmGKBiPA27342

Polymorphism and mutation databases

BioMutaiDISC1
DMDMi160332362

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000799161 – 854Disrupted in schizophrenia 1 proteinAdd BLAST854

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki372Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

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

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

PTM databases

iPTMnetiQ9NRI5
PhosphoSitePlusiQ9NRI5

Expressioni

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

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

BgeeiENSG00000162946 Expressed in 146 organ(s), highest expression level in buccal mucosa cell
ExpressionAtlasiQ9NRI5 baseline and differential
GenevisibleiQ9NRI5 HS

Organism-specific databases

HPAiHPA048911

Interactioni

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).By similarity8 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi118061, 182 interactors
CORUMiQ9NRI5
DIPiDIP-33828N
ELMiQ9NRI5
IntActiQ9NRI5, 184 interactors
MINTiQ9NRI5
STRINGi9606.ENSP00000355593

Structurei

3D structure databases

ProteinModelPortaliQ9NRI5
SMRiQ9NRI5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 292Interaction with MAP1A1 PublicationAdd BLAST292
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
Regioni727 – 854Interaction with PAFAH1B11 PublicationAdd BLAST128
Regioni802 – 835Interaction with NDEL1Add BLAST34

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Motifi197 – 203Interaction with FBXW71 Publication7

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IG23 Eukaryota
ENOG41122J7 LUCA
GeneTreeiENSGT00390000006176
HOGENOMiHOG000056666
HOVERGENiHBG051360
InParanoidiQ9NRI5
KOiK16534
PhylomeDBiQ9NRI5
TreeFamiTF332357

Family and domain databases

InterProiView protein in InterPro
IPR026081 DISC1
PANTHERiPTHR14332 PTHR14332, 1 hit

Sequences (11+)i

Sequence statusi: Complete.

This entry describes 11 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 9 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 'canonical' 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
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

Computationally mapped potential isoform sequencesi

There are 9 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:
A0A075B6Q7A0A075B6Q7_HUMAN
Disrupted in schizophrenia 1 protei...
DISC1 hCG_1644370
854Annotation score:
Q5T409Q5T409_HUMAN
Disrupted in schizophrenia 1 protei...
DISC1
832Annotation score:
C4P0B0C4P0B0_HUMAN
Disrupted in schizophrenia 1 isofor...
DISC1
609Annotation score:
C4P093C4P093_HUMAN
Disrupted in schizophrenia 1 isofor...
DISC1
547Annotation score:
C4P0A0C4P0A0_HUMAN
Disrupted in schizophrenia 1 isofor...
DISC1
442Annotation score:
A0A087WYX6A0A087WYX6_HUMAN
Disrupted in schizophrenia 1 protei...
DISC1
732Annotation score:
C4P092C4P092_HUMAN
Disrupted in schizophrenia 1 isofor...
DISC1
382Annotation score:
H0Y7U2H0Y7U2_HUMAN
Disrupted in schizophrenia 1 protei...
DISC1
44Annotation score:

Sequence cautioni

The sequence BAA32302 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs34622148Ensembl.1
Natural variantiVAR_061644531G → R. Corresponds to variant dbSNP:rs56229136Ensembl.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
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:
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]
UniGeneiHs.13318

Genome annotation databases

EnsembliENST00000317586; ENSP00000320784; ENSG00000162946 [Q9NRI5-4]
ENST00000366633; ENSP00000355593; ENSG00000162946 [Q9NRI5-5]
ENST00000366636; ENSP00000355596; ENSG00000162946 [Q9NRI5-3]
ENST00000366637; ENSP00000355597; ENSG00000162946 [Q9NRI5-2]
ENST00000439617; ENSP00000403888; ENSG00000162946 [Q9NRI5-1]
ENST00000535983; ENSP00000443996; ENSG00000162946 [Q9NRI5-8]
ENST00000539444; ENSP00000440953; ENSG00000162946 [Q9NRI5-6]
ENST00000602281; ENSP00000473425; ENSG00000162946 [Q9NRI5-9]
ENST00000602700; ENSP00000473417; ENSG00000162946 [Q9NRI5-10]
ENST00000602713; ENSP00000473261; ENSG00000162946 [Q9NRI5-10]
ENST00000602822; ENSP00000473586; ENSG00000162946 [Q9NRI5-10]
ENST00000602873; ENSP00000473386; ENSG00000162946 [Q9NRI5-11]
ENST00000628350; ENSP00000487190; ENSG00000162946 [Q9NRI5-7]
ENST00000639374; ENSP00000491762; ENSG00000162946 [Q9NRI5-10]
GeneIDi27185
KEGGihsa:27185
UCSCiuc001hux.1 human [Q9NRI5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

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]
UniGeneiHs.13318

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5V4BX-ray2.60C193-207[»]
ProteinModelPortaliQ9NRI5
SMRiQ9NRI5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118061, 182 interactors
CORUMiQ9NRI5
DIPiDIP-33828N
ELMiQ9NRI5
IntActiQ9NRI5, 184 interactors
MINTiQ9NRI5
STRINGi9606.ENSP00000355593

Protein family/group databases

MoonDBiQ9NRI5 Predicted

PTM databases

iPTMnetiQ9NRI5
PhosphoSitePlusiQ9NRI5

Polymorphism and mutation databases

BioMutaiDISC1
DMDMi160332362

Proteomic databases

EPDiQ9NRI5
MaxQBiQ9NRI5
PaxDbiQ9NRI5
PeptideAtlasiQ9NRI5
PRIDEiQ9NRI5
ProteomicsDBi82365
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

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317586; ENSP00000320784; ENSG00000162946 [Q9NRI5-4]
ENST00000366633; ENSP00000355593; ENSG00000162946 [Q9NRI5-5]
ENST00000366636; ENSP00000355596; ENSG00000162946 [Q9NRI5-3]
ENST00000366637; ENSP00000355597; ENSG00000162946 [Q9NRI5-2]
ENST00000439617; ENSP00000403888; ENSG00000162946 [Q9NRI5-1]
ENST00000535983; ENSP00000443996; ENSG00000162946 [Q9NRI5-8]
ENST00000539444; ENSP00000440953; ENSG00000162946 [Q9NRI5-6]
ENST00000602281; ENSP00000473425; ENSG00000162946 [Q9NRI5-9]
ENST00000602700; ENSP00000473417; ENSG00000162946 [Q9NRI5-10]
ENST00000602713; ENSP00000473261; ENSG00000162946 [Q9NRI5-10]
ENST00000602822; ENSP00000473586; ENSG00000162946 [Q9NRI5-10]
ENST00000602873; ENSP00000473386; ENSG00000162946 [Q9NRI5-11]
ENST00000628350; ENSP00000487190; ENSG00000162946 [Q9NRI5-7]
ENST00000639374; ENSP00000491762; ENSG00000162946 [Q9NRI5-10]
GeneIDi27185
KEGGihsa:27185
UCSCiuc001hux.1 human [Q9NRI5-1]

Organism-specific databases

CTDi27185
DisGeNETi27185
EuPathDBiHostDB:ENSG00000162946.20
GeneCardsiDISC1
HGNCiHGNC:2888 DISC1
HPAiHPA048911
MalaCardsiDISC1
MIMi604906 phenotype
605210 gene
neXtProtiNX_Q9NRI5
OpenTargetsiENSG00000162946
Orphaneti171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
PharmGKBiPA27342
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG23 Eukaryota
ENOG41122J7 LUCA
GeneTreeiENSGT00390000006176
HOGENOMiHOG000056666
HOVERGENiHBG051360
InParanoidiQ9NRI5
KOiK16534
PhylomeDBiQ9NRI5
TreeFamiTF332357

Enzyme and pathway databases

SIGNORiQ9NRI5

Miscellaneous databases

GeneWikiiDISC1
GenomeRNAii27185
PROiPR:Q9NRI5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162946 Expressed in 146 organ(s), highest expression level in buccal mucosa cell
ExpressionAtlasiQ9NRI5 baseline and differential
GenevisibleiQ9NRI5 HS

Family and domain databases

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

Entry informationi

Entry nameiDISC1_HUMAN
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
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 13, 2007
Last modified: November 7, 2018
This is version 159 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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
Main funding by: National Institutes of Health

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