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Relevance to Autism

An inhibitor of topoisomerase (TOP1), topotecan, reduces the expression of extremely long genes in both mouse and human neurons in a dose-dependent manner; interestingly, the expression of many high-confidence ASD candidate genes is also reduced after TOP1 inhibition (King et al., 2013).

Molecular Function

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Topoisomerases facilitate transcription of long genes linked to autism.
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
ASD
Recent Recommendation
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.
Recent Recommendation
Topoisomerase 1 Regulates Gene Expression in Neurons through Cleavage Complex-Dependent and -Independent Mechanisms.
Recent Recommendation
Topoisomerase 1 inhibition reversibly impairs synaptic function.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN569R001 
 missense_variant 
 c.1637G>A 
 p.Arg546Gln 
 De novo 
  
 Simplex 
 GEN569R002 
 intergenic_variant 
 delC 
  
  
  
 Unknown 
 GEN569R003 
 missense_variant 
 c.1217A>T 
 p.His406Leu 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
20
Duplication
 1
 
20
Duplication
 2
 

No Animal Model Data Available





Download TOP1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
APAF1 apoptotic peptidase activating factor 1 317 O14727 Phage display
Trzciska AM , et al. 2003
APP amyloid beta (A4) precursor protein 351 P05067 Protein microarray
Olh J , et al. 2011
ATM ataxia telangiectasia mutated 472 Q13315 Phage display
Trzciska AM , et al. 2003
BARD1 BRCA1 associated RING domain 1 580 A0AVN2 Phage display
Trzciska AM , et al. 2003
BLM Bloom syndrome, RecQ helicase-like 641 P54132 IP/WB
Grondal EJ , et al. 1990
BTBD1 BTB (POZ) domain containing 1 53339 Q9H0C5 IP/WB
Xu L , et al. 2002
BTBD2 BTB (POZ) domain containing 2 55643 Q9BX70 IP/WB
Xu L , et al. 2002
BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast) 9184 O43684 Phage display
Trzciska AM , et al. 2003
CASP3 caspase 3, apoptosis-related cysteine peptidase 836 P42574 IP/WB
Samejima K , et al. 1999
CCR7 chemokine (C-C motif) receptor 7 1236 P32248 ELISA; IP/WB
Arcand J , et al. 2011
CDK2 cyclin-dependent kinase 2 1017 P24941 Affinity Capture-MS
Neganova I , et al. 2011
CDK8 cyclin-dependent kinase 8 1024 P49336 Phage display
Trzciska AM , et al. 2003
CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) 1029 P42771 IP/WB
Karayan L , et al. 2001
CDT1 chromatin licensing and DNA replication factor 1 81620 Q9H211 MS; GST; IP/WB
Sugimoto N , et al. 2007
Chd4 chromodomain helicase DNA binding protein 4 107932 Q6PDQ2 IP; LC-MS/MS; IP/WB
Husain A , et al. 2016
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
CKAP5 cytoskeleton associated protein 5 9793 Q14008 Phage display
Trzciska AM , et al. 2003
COPS5 COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) 10987 Q92905 LC-MS/MS
Bennett EJ , et al. 2010
CUL1 cullin 1 8454 Q13616 LC-MS/MS
Bennett EJ , et al. 2010
CUL3 cullin 3 8452 B7Z600 LC-MS/MS
Bennett EJ , et al. 2010
DDB2 damage-specific DNA binding protein 2, 48kDa 1643 Q92466 Phage display
Trzciska AM , et al. 2003
DDX17 DEAD (Asp-Glu-Ala-Asp) box helicase 17 10521 Q59F66 Affinity Capture-MS
Czubaty A , et al. 2005
DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21 9188 Q9NR30 Affinity Capture-MS
Czubaty A , et al. 2005
DDX23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 9416 Q9BUQ8 Affinity Capture-MS
Czubaty A , et al. 2005
DHX9 DEAH (Asp-Glu-Ala-His) box polypeptide 9 1660 Q08211 Affinity Capture-MS
Czubaty A , et al. 2005
Dkc1 dyskeratosis congenita 1, dyskerin 245474 Q9ESX5 IP; LC-MS/MS
Husain A , et al. 2016
DUS4L dihydrouridine synthase 4-like (S. cerevisiae) 11062 A4D0R5 IP; LC-MS/MS
Huttlin EL , et al. 2015
EAF1 ELL associated factor 1 85403 Q96JC9 IP; LC-MS/MS
Huttlin EL , et al. 2015
EBOL ZEBOVgp7 911824 I0DHB4 IP/WB; MS
Takahashi K , et al. 2013
EFTUD2 elongation factor Tu GTP binding domain containing 2 9343 B3KX19 Affinity Capture-MS
Czubaty A , et al. 2005
EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 5610 P19525 Affinity Capture-MS
Li S , et al. 2011
ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) 1994 Q15717 Affinity Capture-MS
Czubaty A , et al. 2005
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2) 2004 P41970 Phage display
Trzciska AM , et al. 2003
ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8 1161 Q13216 Phage display
Trzciska AM , et al. 2003
ESAM endothelial cell adhesion molecule 90952 Q96AP7 IP; LC-MS/MS
Huttlin EL , et al. 2015
ESR1 estrogen receptor 1 2099 P03372 Affinity Capture-MS
Tarallo R , et al. 2010
FBL fibrillarin 2091 P22087 Affinity Capture-MS
Czubaty A , et al. 2005
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
GEMIN4 gem (nuclear organelle) associated protein 4 50628 P57678 Phage display
Trzciska AM , et al. 2003
GRWD1 glutamate-rich WD repeat containing 1 83743 Q9BQ67 Phage display
Trzciska AM , et al. 2003
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa 2961 P29084 IP; LC-MS/MS
Huttlin EL , et al. 2015
GTF3C1 general transcription factor IIIC, polypeptide 1, alpha 220kDa 2975 Q12789 IP/WB
Wang Z and Roeder RG 1998
H1FX H1 histone family, member X 8971 Q92522 Affinity Capture-MS
Czubaty A , et al. 2005
H2AFY H2A histone family, member Y 9555 O75367 Affinity Capture-MS; IP/WB
Ouararhni K , et al. 2006
H3F3A H3 histone, family 3A 3020 P84243 Affinity Capture-MS; IP/WB
Dran P , et al. 2010
HDAC5 Histone deacetylase 5 10014 Q9UQL6 Affinity Capture-MS; IP/WB
Greco TM , et al. 2010
HDAC9 histone deacetylase 9 9734 Q9UKV0 LC-MS/MS
Joshi P , et al. 2013
HDGF hepatoma-derived growth factor 3068 P51858 Affinity Capture-MS
Zhao J , et al. 2011
Hdgfrp2 hepatoma-derived growth factor, related protein 2 15193 Q3UMU9 IP; LC-MS/MS
Husain A , et al. 2016
HIST1H1C histone cluster 1, H1c 3006 P16403 Affinity Capture-MS
Czubaty A , et al. 2005
HIST1H3E histone cluster 1, H3e 8353 P68431 Affinity Capture-MS; IP/WB
Dran P , et al. 2010
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 3178 P09651 Affinity Capture-MS
Czubaty A , et al. 2005
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 3181 P22626 Affinity Capture-MS
Czubaty A , et al. 2005
HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 220988 P51991 Affinity Capture-MS
Czubaty A , et al. 2005
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) 3183 P07910 Affinity Capture-MS
Czubaty A , et al. 2005
HNRNPK heterogeneous nuclear ribonucleoprotein K 3190 P61978 Affinity Capture-MS
Czubaty A , et al. 2005
HNRNPL heterogeneous nuclear ribonucleoprotein L 3191 P14866 Affinity Capture-MS
Czubaty A , et al. 2005
HNRNPM heterogeneous nuclear ribonucleoprotein M 4670 P52272 LC-MS/MS
Havugimana PC , et al. 2012
HNRNPR heterogeneous nuclear ribonucleoprotein R 10236 O43390 Affinity Capture-MS
Czubaty A , et al. 2005
ICT1 immature colon carcinoma transcript 1 3396 Q14197 LC-MS/MS
Richter R , et al. 2010
IK IK cytokine, down-regulator of HLA II 3550 Q13123 LC-MS/MS
Havugimana PC , et al. 2012
IL7R interleukin 7 receptor 3575 P16871 RNA immunoprecipitation (RIP); MS; IP/WB
Evsyukova I , et al. 2012
IRF4 interferon regulatory factor 4 3662 Q15306 Phage display
Trzciska AM , et al. 2003
IRF8 interferon regulatory factor 8 3394 Q02556 Phage display
Trzciska AM , et al. 2003
IRF9 interferon regulatory factor 9 10379 Q00978 Phage display
Trzciska AM , et al. 2003
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 3676 P13612 Affinity Capture-MS
Byron A , et al. 2012
JAK1 Janus kinase 1 3716 P23458 Phage display
Trzciska AM , et al. 2003
LIG4 ligase IV, DNA, ATP-dependent 3981 P49917 Phage display
Trzciska AM , et al. 2003
LSM4 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) 25804 Q9Y4Z0 Phage display
Trzciska AM , et al. 2003
MGMT O-6-methylguanine-DNA methyltransferase 4255 P16455 Affinity Capture-MS; IP/WB
Niture SK , et al. 2005
MKI67 antigen identified by monoclonal antibody Ki-67 4288 P46013 Affinity Capture-MS
Czubaty A , et al. 2005
MLL lysine (K)-specific methyltransferase 2A 4297 Q03164 Phage display
Trzciska AM , et al. 2003
MYC v-myc myelocytomatosis viral oncogene homolog (avian) 4609 P01106 Affinity Capture-MS; IP/WB
Koch HB , et al. 2007
NAT10 N-acetyltransferase 10 (GCN5-related) 55226 B4DFD5 Affinity Capture-MS
Czubaty A , et al. 2005
NCL nucleolin 4691 B3KM80 Y2H; IP/WB
Haluska P Jr , et al. 1998
NCSTN nicastrin 23385 Q92542 LC-MS/MS
Havugimana PC , et al. 2012
NKX3-1 NK3 homeobox 1 4824 Q99801 IP/WB
Bowen C , et al. 2007
NONO non-POU domain containing, octamer-binding 4841 Q15233 Affinity Capture-MS
Czubaty A , et al. 2005
NOP2 NOP2 nucleolar protein 4839 P46087 Affinity Capture-MS
Czubaty A , et al. 2005
NOP56 NOP56 ribonucleoprotein 10528 O00567 MALDI-TOF; IP/WB
Hayano T , et al. 2003
Nop58 NOP58 ribonucleoprotein 55989 Q6DFW4 IP; LC-MS/MS
Husain A , et al. 2016
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 4869 P06748 Affinity Capture-MS
Czubaty A , et al. 2005
OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa 4940 Q9Y6K5 Affinity Capture-MS
Li S , et al. 2011
PA2G4 proliferation-associated 2G4, 38kDa 5036 Q9UQ80 IP/WB
Squatrito M , et al. 2004
PARP1 poly (ADP-ribose) polymerase 1 142 P09874 Bioluminescence resonance energy transfer assay
Yung TM , et al. 2004
Parp1 poly (ADP-ribose) polymerase family, member 1 11545 Q921K2 IP; LC-MS/MS
Husain A , et al. 2016
PCNA proliferating cell nuclear antigen 5111 P12004 IP/WB
Takasaki Y , et al. 2001
PDE10A phosphodiesterase 10A 10846 Q9Y233 Phage display
Trzciska AM , et al. 2003
Plrg1 pleiotropic regulator 1 53317 Q922V4 IP; LC-MS/MS
Husain A , et al. 2016
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 5378 P54277 IP; MS
Cannavo E , et al. 2006
POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 5430 P24928 in vitro binding assay; IP/WB; Co-localization; in vitro relaxation assay
Baranello L , et al. 2016
PPP2R2B protein phosphatase 2, regulatory subunit B, beta 5521 Q00005 Phage display
Trzciska AM , et al. 2003
PRB1 proline-rich protein BstNI subfamily 1 5542 P04280 Phage display
Trzciska AM , et al. 2003
PRICKLE3 prickle homolog 3 (Drosophila) 4007 O43900 IP; LC-MS/MS
Huttlin EL , et al. 2015
Prpf19 pre-mRNA processing factor 19 28000 Q99KP6 IP; LC-MS/MS
Husain A , et al. 2016
PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) 10594 Q6P2Q9 Affinity Capture-MS
Czubaty A , et al. 2005
Prpf8 pre-mRNA processing factor 8 192159 Q99PV0 IP; LC-MS/MS
Husain A , et al. 2016
PYGM phosphorylase, glycogen, muscle 5837 P11217 Phage display
Trzciska AM , et al. 2003
Rbbp7 retinoblastoma binding protein 7 245688 Q60973 IP; LC-MS/MS
Husain A , et al. 2016
RBL1 retinoblastoma-like 1 (p107) 5933 P28749 Phage display
Trzciska AM , et al. 2003
RBL2 retinoblastoma-like 2 (p130) 5934 Q08999 Phage display
Trzciska AM , et al. 2003
RBM14 RNA binding motif protein 14 10432 Q96PK6 LC-MS/MS
Havugimana PC , et al. 2012
Rbm14 RNA binding motif protein 14 56275 Q8C2Q3 IP; LC-MS/MS
Husain A , et al. 2016
RBM39 RNA binding motif protein 39 9584 Q14498 LC-MS/MS
Havugimana PC , et al. 2012
RCVRN recoverin 5957 P35243 Phage display
Trzciska AM , et al. 2003
RIOK2 RIO kinase 2 55781 D6RDI3 LC-MS/MS
Varjosalo M , et al. 2013
RPS14 ribosomal protein S14 6208 P62263 LC-MS/MS
Havugimana PC , et al. 2012
RRP1B ribosomal RNA processing 1 homolog B (S. cerevisiae) 23076 Q14684 TAP; MS; IP/WB
Crawford NP , et al. 2009
S100A9 S100 calcium binding protein A9 6280 P06702 LC-MS/MS
Havugimana PC , et al. 2012
Safb2 scaffold attachment factor B2 224902 Q80YR5 IP; LC-MS/MS
Husain A , et al. 2016
SF3B1 splicing factor 3b, subunit 1, 155kDa 23451 A0JLT9 Phage display
Trzciska AM , et al. 2003
SF3B14 Splicing factor 3B subunit 6 51639 Q9Y3B4 LC-MS/MS
Havugimana PC , et al. 2012
SF3B3 splicing factor 3b, subunit 3, 130kDa 23450 A8K6V3 Affinity Capture-MS
Czubaty A , et al. 2005
SFPQ splicing factor proline/glutamine-rich 6421 P23246 IP/WB
Straub T , et al. 1998
SIRT7 sirtuin 7 51547 Q9NRC8 LC-MS/MS
Tsai YC , et al. 2012
Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 20586 Q3TKT4 IP; LC-MS/MS; IP/WB
Husain A , et al. 2016
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) 23020 O75643 Affinity Capture-MS
Czubaty A , et al. 2005
Snrnp40 small nuclear ribonucleoprotein 40 (U5) 66585 Q6PE01 IP; LC-MS/MS
Husain A , et al. 2016
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) 6625 P08621 Phage display
Trzciska AM , et al. 2003
SNRPA1 small nuclear ribonucleoprotein polypeptide A' 6627 P09661 Affinity Capture-MS
Czubaty A , et al. 2005
SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa 6632 P62314 LC-MS/MS
Havugimana PC , et al. 2012
SNRPG small nuclear ribonucleoprotein polypeptide G 6637 P62308 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNW1 SNW domain containing 1 22938 Q13573 Phage display
Trzciska AM , et al. 2003
SRSF1 serine/arginine-rich splicing factor 1 6426 Q07955 GST; IP/WB
Kowalska-Loth B , et al. 2005
Srsf10 serine/arginine-rich splicing factor 10 14105 Q9R0U0 IP; LC-MS/MS
Husain A , et al. 2016
SRSF11 serine/arginine-rich splicing factor 11 9295 Q05519 IP/WB
Straub T , et al. 1998
Ssrp1 structure specific recognition protein 1 20833 Q08943 IP; LC-MS/MS; IP/WB
Husain A , et al. 2016
Sub1 SUB1 homolog (S. cerevisiae) 20024 P11031 IP; LC-MS/MS
Husain A , et al. 2016
SUMO1 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) 7341 P63165 IP/WB
Mo YY , et al. 2001
SUMO2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) 6613 P61956 Affinity Capture-MS
Tatham MH , et al. 2011
SUMO3 SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae) 6612 P55854 LC-MALDI-MS/MS; IP/WB
Rosas-Acosta G , et al. 2004
Supt16 suppressor of Ty 16 114741 Q920B9 IP; LC-MS/MS; IP/WB
Husain A , et al. 2016
SUPT16H suppressor of Ty 16 homolog (S. cerevisiae) 11198 Q9Y5B9 LC-MS/MS
Havugimana PC , et al. 2012
Supt6 suppressor of Ty 6 20926 Q62383 IP; LC-MS/MS
Husain A , et al. 2016
SYMPK symplekin 8189 Q92797 Phage display
Trzciska AM , et al. 2003
TARBP2 TAR (HIV-1) RNA binding protein 2 6895 Q15633 Phage display
Trzciska AM , et al. 2003
TCOF1 Treacher Collins-Franceschetti syndrome 1 6949 Q13428 Affinity Capture-MS
Czubaty A , et al. 2005
Thrap3 thyroid hormone receptor associated protein 3 230753 Q569Z6 IP; LC-MS/MS
Husain A , et al. 2016
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 10210 Q9NS56 Y2H; IP/WB
Haluska P Jr , et al. 1999
TP53 tumor protein p53 7157 P02340 CAT reporter assay; Beta-galactosidase filter assay
Mao Y , et al. 2002
TPR translocated promoter region (to activated MET oncogene) 7175 P12270 LC-MS/MS
Havugimana PC , et al. 2012
TRIM32 tripartite motif containing 32 22954 Q13049 Phage display
Trzciska AM , et al. 2003
TUBD1 tubulin, delta 1 51174 Q9UJT1 Phage display
Trzciska AM , et al. 2003
U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 108121 Q9D883 IP; LC-MS/MS
Husain A , et al. 2016
U2AF2 U2 small nuclear RNA auxiliary factor 2 11338 P26368 Phage display
Trzciska AM , et al. 2003
UBC ubiquitin C 7316 P63279 MS; IP/WB
Matsumoto M , et al. 2005
UBE2I ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast) 7329 P63279 IP/WB
Mao Y , et al. 2000
UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) 27340 O75691 LC-MS/MS
Havugimana PC , et al. 2012
VCAM1 vascular cell adhesion molecule 1 7412 P19320 MS
Humphries JD , et al. 2009
VCP valosin containing protein 7415 P55072 MS/MS
Yu CC , et al. 2013
Wdr43 WD repeat domain 43 72515 Q6ZQL4 IP; LC-MS/MS
Husain A , et al. 2016
WHSC1 Wolf-Hirschhorn syndrome candidate 1 7468 O96028 Affinity Capture-RNA
Chu L , et al. 2012
Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 22594 Q60596 IP; LC-MS/MS; IP/WB
Husain A , et al. 2016
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 7520 P13010 Affinity Capture-MS
Sand-Dejmek J , et al. 2011
ZRANB2 zinc finger, RAN-binding domain containing 2 9406 O95218 IP; LC-MS/MS
Huttlin EL , et al. 2015
TAL1 6886 21349 P22091 LC-MS/MS
Goardon N , et al. 2006
CSNK2A1 casein kinase 2, alpha 1 polypeptide 116549 P19139 in vitro kinase assay
Durban E , et al. 1985
CSNK2A2 casein kinase 2, alpha 1 polypeptide 116549 P19139 in vitro kinase assay
Durban E , et al. 1985

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