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Q9NRI5

- DISC1_HUMAN

UniProt

Q9NRI5 - DISC1_HUMAN

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Protein
Disrupted in schizophrenia 1 protein
Gene
DISC1, KIAA0457
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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 - Molecular functioni

  1. protein binding Source: UniProtKB

GO - Biological processi

  1. TOR signaling Source: Ensembl
  2. canonical Wnt signaling pathway Source: Ensembl
  3. cell proliferation in forebrain Source: Ensembl
  4. cerebral cortex radially oriented cell migration Source: Ensembl
  5. microtubule cytoskeleton organization Source: UniProtKB
  6. mitochondrial calcium ion homeostasis Source: Ensembl
  7. neuron migration Source: UniProtKB
  8. positive regulation of Wnt signaling pathway Source: UniProtKB
  9. positive regulation of neuroblast proliferation Source: UniProtKB
  10. positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: Ensembl
  11. protein localization Source: Ensembl
  12. regulation of neuron projection development Source: Ensembl
  13. regulation of synapse maturation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Neurogenesis, Wnt signaling pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Disrupted in schizophrenia 1 protein
Gene namesi
Name:DISC1
Synonyms:KIAA0457
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:2888. DISC1.

Subcellular locationi

Cytoplasm. Cytoplasmcytoskeleton. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell junctionsynapsepostsynaptic cell membranepostsynaptic density By similarity
Note: Colocalizes with NDEL1 in the perinuclear region and the centrosome By similarity. Localizes to punctate cytoplasmic foci which overlap in part with mitochondria. Colocalizes with PCNT at the centrosome.5 Publications

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. centrosome Source: UniProtKB
  3. microtubule Source: UniProtKB-KW
  4. mitochondrion Source: MGI
  5. postsynaptic density Source: UniProtKB-SubCell
  6. postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Microtubule, 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) [MIM:604906]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.3 Publications

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi815 – 8151L → P: Impairs interaction with NDEL1; when associated with P-822. 1 Publication
Mutagenesisi822 – 8221L → P: Impairs interaction with NDEL1; when associated with P-815. 1 Publication

Keywords - Diseasei

Schizophrenia

Organism-specific databases

MIMi181500. phenotype.
604906. phenotype.
Orphaneti3140. Schizophrenia.
PharmGKBiPA27342.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 854854Disrupted in schizophrenia 1 protein
PRO_0000079916Add
BLAST

Proteomic databases

MaxQBiQ9NRI5.
PaxDbiQ9NRI5.
PRIDEiQ9NRI5.

PTM databases

PhosphoSiteiQ9NRI5.

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

ArrayExpressiQ9NRI5.
BgeeiQ9NRI5.
GenevestigatoriQ9NRI5.

Organism-specific databases

HPAiCAB013016.

Interactioni

Subunit structurei

Interacts with NDEL1. 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. Interaction with microtubules may be mediated in part by TRAF3IP1. Interacts (via C-terminal) with PCNT. Interacts with CHCHD6.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ACTN2P356093EBI-529989,EBI-77797
ANKHD1Q8IWZ3-16EBI-529989,EBI-1785446
ATF4P188483EBI-529989,EBI-492498
ATF5Q9Y2D18EBI-529989,EBI-492509
ATF7IPQ6VMQ63EBI-529989,EBI-928732
CCDC141Q6ZP825EBI-529989,EBI-928795
CEP63Q96MT87EBI-529989,EBI-741977
CLUP109094EBI-529989,EBI-1104674
COL6A2P121103EBI-529989,EBI-928749
DCTN2Q135613EBI-529989,EBI-715074
DSTQ030015EBI-529989,EBI-310758
DYNC1H1Q142043EBI-529989,EBI-356015
EIF3HO153728EBI-529989,EBI-709735
ITSN1Q158113EBI-529989,EBI-602041
KIF3AQ9Y4963EBI-529989,EBI-1104844
MACF1Q9UPN35EBI-529989,EBI-522925
MAP1AP785593EBI-529989,EBI-929047
NDEL1Q9GZM813EBI-529989,EBI-928842
OLFM1Q997843EBI-529989,EBI-1105073
PCNTO956135EBI-529989,EBI-530012
RANBP9Q96S596EBI-529989,EBI-636085
SPTBN1Q010823EBI-529989,EBI-351561
SPTBN4Q9H2543EBI-529989,EBI-308543
SYNE1Q8NF916EBI-529989,EBI-928867
TRAF3IP1Q8TDR010EBI-529989,EBI-928811
TRIOO759623EBI-529989,EBI-718519

Protein-protein interaction databases

BioGridi118061. 112 interactions.
DIPiDIP-33828N.
IntActiQ9NRI5. 100 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ9NRI5.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 292292Interaction with MAP1A
Add
BLAST
Regioni293 – 696404Interaction with TRAF3IP1
Add
BLAST
Regioni440 – 597158Required for localization to punctate cytoplasmic foci
Add
BLAST
Regioni446 – 854409Necessary and sufficient for interaction with PCNT and localization at the centrosome
Add
BLAST
Regioni598 – 854257Interaction with ATF4 and ATF5
Add
BLAST
Regioni727 – 854128Interaction with PAFAH1B1
Add
BLAST
Regioni802 – 83534Interaction with NDEL1
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili366 – 39429 Reviewed prediction
Add
BLAST
Coiled coili452 – 50554 Reviewed prediction
Add
BLAST
Coiled coili602 – 66665 Reviewed prediction
Add
BLAST
Coiled coili802 – 83029 Reviewed prediction
Add
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG76097.
HOGENOMiHOG000056668.
HOVERGENiHBG051360.
KOiK16534.
OMAiYMRSTAG.
PhylomeDBiQ9NRI5.
TreeFamiTF332357.

Family and domain databases

InterProiIPR026081. DISC1.
IPR009053. Prefoldin.
[Graphical view]
PANTHERiPTHR14332. PTHR14332. 1 hit.
SUPFAMiSSF46579. SSF46579. 1 hit.

Sequences (11)i

Sequence statusi: Complete.

This entry describes 11 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist. More than 50 different isoforms are produced in the brain.

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

MPGGGPQGAP AAAGGGGVSH RAGSRDCLPP AACFRRRRLA RRPGYMRSST    50
GPGIGFLSPA VGTLFRFPGG VSGEESHHSE SRARQCGLDS RGLLVRSPVS 100
KSAAAPTVTS VRGTSAHFGI QLRGGTRLPD RLSWPCGPGS AGWQQEFAAM 150
DSSETLDASW EAACSDGARR VRAAGSLPSA ELSSNSCSPG CGPEVPPTPP 200
GSHSAFTSSF SFIRLSLGSA GERGEAEGCP PSREAESHCQ SPQEMGAKAA 250
SLDGPHEDPR CLSRPFSLLA TRVSADLAQA ARNSSRPERD MHSLPDMDPG 300
SSSSLDPSLA GCGGDGSSGS GDAHSWDTLL RKWEPVLRDC LLRNRRQMEV 350
ISLRLKLQKL QEDAVENDDY DKAETLQQRL EDLEQEKISL HFQLPSRQPA 400
LSSFLGHLAA QVQAALRRGA TQQASGDDTH TPLRMEPRLL EPTAQDSLHV 450
SITRRDWLLQ EKQQLQKEIE ALQARMFVLE AKDQQLRREI EEQEQQLQWQ 500
GCDLTPLVGQ LSLGQLQEVS KALQDTLASA GQIPFHAEPP ETIRSLQERI 550
KSLNLSLKEI TTKVCMSEKF CSTLRKKVND IETQLPALLE AKMHAISGNH 600
FWTAKDLTEE IRSLTSEREG LEGLLSKLLV LSSRNVKKLG SVKEDYNRLR 650
REVEHQETAY ETSVKENTMK YMETLKNKLC SCKCPLLGKV WEADLEACRL 700
LIQSLQLQEA RGSLSVEDER QMDDLEGAAP PIPPRLHSED KRKTPLKVLE 750
EWKTHLIPSL HCAGGEQKEE SYILSAELGE KCEDIGKKLL YLEDQLHTAI 800
HSHDEDLIQS LRRELQMVKE TLQAMILQLQ PAKEAGEREA AASCMTAGVH 850
EAQA 854
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.

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

Sequence cautioni

The sequence BAA32302.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence CAH70955.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI15677.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI17204.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI21886.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI22543.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI23013.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51G → V.1 Publication
Corresponds to variant rs3738400 [ dbSNP | Ensembl ].
VAR_030422
Natural varianti116 – 1161A → V.
Corresponds to variant rs56020408 [ dbSNP | Ensembl ].
VAR_061642
Natural varianti264 – 2641R → Q.3 Publications
Corresponds to variant rs3738401 [ dbSNP | Ensembl ].
VAR_022437
Natural varianti328 – 3281T → N.
Corresponds to variant rs55795950 [ dbSNP | Ensembl ].
VAR_061643
Natural varianti330 – 3301L → F.
Corresponds to variant rs34622148 [ dbSNP | Ensembl ].
VAR_050954
Natural varianti531 – 5311G → R.
Corresponds to variant rs56229136 [ dbSNP | Ensembl ].
VAR_061644
Natural varianti607 – 6071L → F Associated with susceptibility to schizoaffective disorder. 1 Publication
Corresponds to variant rs6675281 [ dbSNP | Ensembl ].
VAR_026704
Natural varianti704 – 7041S → C.2 Publications
Corresponds to variant rs821616 [ dbSNP | Ensembl ].
VAR_022438

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei23 – 372350Missing in isoform 11.
VSP_047525Add
BLAST
Alternative sequencei350 – 36920VISLR…VENDD → LEPIALDPPWKPRHPEPNSY in isoform 4.
VSP_019314Add
BLAST
Alternative sequencei350 – 3567VISLRLK → LRRYNKD in isoform 10.
VSP_047526
Alternative sequencei357 – 854498Missing in isoform 10.
VSP_047527Add
BLAST
Alternative sequencei370 – 854485Missing in isoform 4.
VSP_019315Add
BLAST
Alternative sequencei545 – 55915SLQER…LSLKE → RNKCEGKYYEVHGNT in isoform 7.
VSP_043583Add
BLAST
Alternative sequencei545 – 5517SLQERIK → RKPFLDG in isoform 11.
VSP_047528
Alternative sequencei552 – 854303Missing in isoform 11.
VSP_047529Add
BLAST
Alternative sequencei560 – 57920Missing in isoform 7.
VSP_043584Add
BLAST
Alternative sequencei564 – 57916VCMSE…RKKVN → ETISGRLKTSPRRLDH in isoform 6.
VSP_043585Add
BLAST
Alternative sequencei580 – 854275Missing in isoform 6 and isoform 7.
VSP_043586Add
BLAST
Alternative sequencei661 – 854194ETSVK…HEAQA → DGVSLCRPVWSAVVRSCSLQ PLPPEFKQFSCLSLRSSWDY RCPPPCLANFVFLVEMGFYH VDQTGLKLLTSSDPPSSASQ SAGITDMSHCAWPLQ in isoform 5.
VSP_043214Add
BLAST
Alternative sequencei661 – 69535ETSVK…WEADL → AASVHCLGKCGKLTWKLVDC LSRAYSSRKPGEACL in isoform 8.
VSP_043587Add
BLAST
Alternative sequencei661 – 67818ETSVK…TLKNK → GYKYCDAESWTQRSQQLA in isoform 3.
VSP_019316Add
BLAST
Alternative sequencei661 – 6622ET → GR in isoform 9.
VSP_047530
Alternative sequencei663 – 854192Missing in isoform 9.
VSP_047531Add
BLAST
Alternative sequencei679 – 854176Missing in isoform 3.
VSP_019317Add
BLAST
Alternative sequencei696 – 854159Missing in isoform 8.
VSP_043588Add
BLAST
Alternative sequencei748 – 76922Missing in isoform 2.
VSP_003849Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
AL626763
, AL136171, AL161743, AL359543, AL445200, AL450284 Genomic DNA. Translation: CAH70955.1. Sequence problems.
AL626763
, AL136171, AL359543, AL450284 Genomic DNA. Translation: CAH70956.1.
AL626763, AL359543 Genomic DNA. Translation: CAH70957.1.
AL450284
, AL136171, AL161743, AL359543, AL445200, AL626763 Genomic DNA. Translation: CAI15677.1. Sequence problems.
AL450284
, AL136171, AL359543, AL626763 Genomic DNA. Translation: CAI15679.1.
AL359543
, AL136171, AL161743, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI17204.1. Sequence problems.
AL359543
, AL136171, AL450284, AL626763 Genomic DNA. Translation: CAI17206.1.
AL359543, AL626763 Genomic DNA. Translation: CAI17207.1.
AL136171
, AL161743, AL359543, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI21886.1. Sequence problems.
AL136171
, AL359543, AL450284, AL626763 Genomic DNA. Translation: CAI21888.1.
AL161743
, AL136171, AL359543, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI22543.1. Sequence problems.
AL445200
, AL136171, AL161743, AL359543, AL450284, AL626763 Genomic DNA. Translation: CAI23013.1. Sequence problems.
AL751364 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]
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]
ENST00000535983; ENSP00000443996; ENSG00000162946. [Q9NRI5-8]
ENST00000537876; ENSP00000440909; ENSG00000162946. [Q9NRI5-7]
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]
GeneIDi27185.
KEGGihsa:27185.
UCSCiuc001hux.1. human. [Q9NRI5-4]
uc001huy.3. human. [Q9NRI5-3]
uc001huz.3. human. [Q9NRI5-1]
uc001hva.3. human. [Q9NRI5-2]
uc010pwk.1. human. [Q9NRI5-6]
uc010pww.2. human. [Q9NRI5-5]
uc010pxc.1. human. [Q9NRI5-7]
uc010pxf.2. human. [Q9NRI5-8]

Polymorphism databases

DMDMi160332362.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
AL626763
, AL136171 , AL161743 , AL359543 , AL445200 , AL450284 Genomic DNA. Translation: CAH70955.1 . Sequence problems.
AL626763
, AL136171 , AL359543 , AL450284 Genomic DNA. Translation: CAH70956.1 .
AL626763 , AL359543 Genomic DNA. Translation: CAH70957.1 .
AL450284
, AL136171 , AL161743 , AL359543 , AL445200 , AL626763 Genomic DNA. Translation: CAI15677.1 . Sequence problems.
AL450284
, AL136171 , AL359543 , AL626763 Genomic DNA. Translation: CAI15679.1 .
AL359543
, AL136171 , AL161743 , AL445200 , AL450284 , AL626763 Genomic DNA. Translation: CAI17204.1 . Sequence problems.
AL359543
, AL136171 , AL450284 , AL626763 Genomic DNA. Translation: CAI17206.1 .
AL359543 , AL626763 Genomic DNA. Translation: CAI17207.1 .
AL136171
, AL161743 , AL359543 , AL445200 , AL450284 , AL626763 Genomic DNA. Translation: CAI21886.1 . Sequence problems.
AL136171
, AL359543 , AL450284 , AL626763 Genomic DNA. Translation: CAI21888.1 .
AL161743
, AL136171 , AL359543 , AL445200 , AL450284 , AL626763 Genomic DNA. Translation: CAI22543.1 . Sequence problems.
AL445200
, AL136171 , AL161743 , AL359543 , AL450284 , AL626763 Genomic DNA. Translation: CAI23013.1 . Sequence problems.
AL751364 Genomic DNA. No translation available.
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 ]
PIRi T00071.
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 ]
UniGenei Hs.13318.

3D structure databases

ProteinModelPortali Q9NRI5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118061. 112 interactions.
DIPi DIP-33828N.
IntActi Q9NRI5. 100 interactions.

PTM databases

PhosphoSitei Q9NRI5.

Polymorphism databases

DMDMi 160332362.

Proteomic databases

MaxQBi Q9NRI5.
PaxDbi Q9NRI5.
PRIDEi Q9NRI5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000317586 ; ENSP00000320784 ; ENSG00000162946 . [Q9NRI5-4 ]
ENST00000366633 ; ENSP00000355593 ; ENSG00000162946 . [Q9NRI5-5 ]
ENST00000366636 ; ENSP00000355596 ; ENSG00000162946 . [Q9NRI5-3 ]
ENST00000535983 ; ENSP00000443996 ; ENSG00000162946 . [Q9NRI5-8 ]
ENST00000537876 ; ENSP00000440909 ; ENSG00000162946 . [Q9NRI5-7 ]
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 ]
GeneIDi 27185.
KEGGi hsa:27185.
UCSCi uc001hux.1. human. [Q9NRI5-4 ]
uc001huy.3. human. [Q9NRI5-3 ]
uc001huz.3. human. [Q9NRI5-1 ]
uc001hva.3. human. [Q9NRI5-2 ]
uc010pwk.1. human. [Q9NRI5-6 ]
uc010pww.2. human. [Q9NRI5-5 ]
uc010pxc.1. human. [Q9NRI5-7 ]
uc010pxf.2. human. [Q9NRI5-8 ]

Organism-specific databases

CTDi 27185.
GeneCardsi GC01P231762.
HGNCi HGNC:2888. DISC1.
HPAi CAB013016.
MIMi 181500. phenotype.
604906. phenotype.
605210. gene.
neXtProti NX_Q9NRI5.
Orphaneti 3140. Schizophrenia.
PharmGKBi PA27342.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG76097.
HOGENOMi HOG000056668.
HOVERGENi HBG051360.
KOi K16534.
OMAi YMRSTAG.
PhylomeDBi Q9NRI5.
TreeFami TF332357.

Miscellaneous databases

GeneWikii DISC1.
GenomeRNAii 27185.
NextBioi 50024.
PROi Q9NRI5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NRI5.
Bgeei Q9NRI5.
Genevestigatori Q9NRI5.

Family and domain databases

InterProi IPR026081. DISC1.
IPR009053. Prefoldin.
[Graphical view ]
PANTHERi PTHR14332. PTHR14332. 1 hit.
SUPFAMi SSF46579. SSF46579. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS GLN-264 AND CYS-704.
  2. "Evolutionary constraints on the Disrupted in Schizophrenia locus."
    Taylor M.S., Devon R.S., Millar J.K., Porteous D.J.
    Genomics 81:67-77(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-264.
    Tissue: Fetal heart.
  3. "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain."
    Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O.
    DNA Res. 4:345-349(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-264.
    Tissue: Brain.
  4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5; 6; 7; 8; 9; 10 AND 11), ALTERNATIVE SPLICING.
    Tissue: Brain.
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
  7. "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation."
    Morris J.A., Kandpal G., Ma L., Austin C.P.
    Hum. Mol. Genet. 12:1591-1608(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ACTN2; ANKHD1; ATF4; ATF5; CEP63; EIF3S3; MAP1A; MICROTUBULES; NDEL1; RANBP9; SPTBN4; SYNE1 AND TRAF3IP1, SUBCELLULAR LOCATION.
  8. "Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects."
    Hennah W., Varilo T., Kestilae M., Paunio T., Arajaervi R., Haukka J., Parker A., Martin R., Levitzky S., Partonen T., Meyer J., Loennqvist J., Peltonen L., Ekelund J.
    Hum. Mol. Genet. 12:3151-3159(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
  9. "Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth."
    Ozeki Y., Tomoda T., Kleiderlein J., Kamiya A., Bord L., Fujii K., Okawa M., Yamada N., Hatten M.E., Snyder S.H., Ross C.A., Sawa A.
    Proc. Natl. Acad. Sci. U.S.A. 100:289-294(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NDEL1, SUBCELLULAR LOCATION.
  10. Erratum
    Ozeki Y., Tomoda T., Kleiderlein J., Kamiya A., Bord L., Fujii K., Okawa M., Yamada N., Hatten M.E., Snyder S.H., Ross C.A., Sawa A.
    Proc. Natl. Acad. Sci. U.S.A. 101:13969-13969(2004)
  11. "Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder."
    Hodgkinson C.A., Goldman D., Jaeger J., Persaud S., Kane J.M., Lipsky R.H., Malhotra A.K.
    Am. J. Hum. Genet. 75:862-872(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD, VARIANTS VAL-5 AND PHE-607.
  12. "Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders."
    Brandon N.J., Handford E.J., Schurov I., Rain J.-C., Pelling M., Duran-Jimeniz B., Camargo L.M., Oliver K.R., Beher D., Shearman M.S., Whiting P.J.
    Mol. Cell. Neurosci. 25:42-55(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TUBULIN ALPHA; NDEL1 AND PAFAH1B1, SUBCELLULAR LOCATION, MUTAGENESIS OF LEU-815 AND LEU-822.
  13. "Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site."
    Brandon N.J., Schurov I., Camargo L.M., Handford E.J., Duran-Jimeniz B., Hunt P., Millar J.K., Porteous D.J., Shearman M.S., Whiting P.J.
    Mol. Cell. Neurosci. 28:613-624(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  14. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9, VARIANT CYS-704.
  15. Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  16. "DISC1-NDEL1/NUDEL protein interaction, an essential component for neurite outgrowth, is modulated by genetic variations of DISC1."
    Kamiya A., Tomoda T., Chang J., Takaki M., Zhan C., Morita M., Cascio M.B., Elashvili S., Koizumi H., Takanezawa Y., Dickerson F., Yolken R., Arai H., Sawa A.
    Hum. Mol. Genet. 15:3313-3323(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NDEL1.
  17. "DISC1-kendrin interaction is involved in centrosomal microtubule network formation."
    Shimizu S., Matsuzaki S., Hattori T., Kumamoto N., Miyoshi K., Katayama T., Tohyama M.
    Biochem. Biophys. Res. Commun. 377:1051-1056(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH PCNT, SUBCELLULAR LOCATION.
  18. "Disc1 regulates granule cell migration in the developing hippocampus."
    Meyer K.D., Morris J.A.
    Hum. Mol. Genet. 18:3286-3297(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  19. "Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling."
    Mao Y., Ge X., Frank C.L., Madison J.M., Koehler A.N., Doud M.K., Tassa C., Berry E.M., Soda T., Singh K.K., Biechele T., Petryshen T.L., Moon R.T., Haggarty S.J., Tsai L.H.
    Cell 136:1017-1031(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  20. "CHCM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology."
    An J., Shi J., He Q., Lui K., Liu Y., Huang Y., Sheikh M.S.
    J. Biol. Chem. 287:7411-7426(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CHCHD6.

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 historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 13, 2007
Last modified: July 9, 2014
This is version 120 of the entry and version 3 of the sequence. [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

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

External Data

Dasty 3

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