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TOP1MT (DNA topoisomerase I mitochondrial)

Identity

Alias (NCBI)-
HGNC (Hugo) TOP1MT
HGNC Previous nametopoisomerase (DNA) I, mitochondrial
LocusID (NCBI) 116447
Atlas_Id 53578
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 143309326 and ends at 143334880 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TOP1MT (8q24.3) / SND1 (7q32.1)VARS (6p21.33) / TOP1MT (8q24.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)TOP1MT   29787
Cards
Entrez_Gene (NCBI)TOP1MT    DNA topoisomerase I mitochondrial
Aliases
GeneCards (Weizmann)TOP1MT
Ensembl hg19 (Hinxton)ENSG00000184428 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184428 [Gene_View]  ENSG00000184428 [Sequence]  chr8:143309326-143334880 [Contig_View]  TOP1MT [Vega]
ICGC DataPortalENSG00000184428
TCGA cBioPortalTOP1MT
AceView (NCBI)TOP1MT
Genatlas (Paris)TOP1MT
SOURCE (Princeton)TOP1MT
Genetics Home Reference (NIH)TOP1MT
Genomic and cartography
GoldenPath hg38 (UCSC)TOP1MT  -     chr8:143309326-143334880 -  8q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TOP1MT  -     8q24.3   [Description]    (hg19-Feb_2009)
GoldenPathTOP1MT - 8q24.3 [CytoView hg19]  TOP1MT - 8q24.3 [CytoView hg38]
ImmunoBaseENSG00000184428
Genome Data Viewer NCBITOP1MT [Mapview hg19]  
OMIM606387   
Gene and transcription
Genbank (Entrez)AF349017 AK302372 AK303237 AK308475 AK309005
RefSeq transcript (Entrez)NM_001258446 NM_001258447 NM_052963
Consensus coding sequences : CCDS (NCBI)TOP1MT
Gene ExpressionTOP1MT [ NCBI-GEO ]   TOP1MT [ EBI - ARRAY_EXPRESS ]   TOP1MT [ SEEK ]   TOP1MT [ MEM ]
Gene Expression Viewer (FireBrowse)TOP1MT [ Firebrowse - Broad ]
GenevisibleExpression of TOP1MT in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)116447
GTEX Portal (Tissue expression)TOP1MT
Human Protein AtlasENSG00000184428-TOP1MT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969P6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969P6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969P6
PhosPhoSitePlusQ969P6
Domaine pattern : Prosite (Expaxy)TOPOISOMERASE_I_EUK (PS00176)   
Domains : Interpro (EBI)DNA_brk_join_enz    DNA_topo_DNA_db_N_dom1    DNA_topo_DNA_db_N_dom2    TopoI    TopoI_AS    TopoI_C_dom    TopoI_cat_a-hlx-sub_euk    TopoI_cat_a/b-sub_euk    TopoI_cat_euk    TopoI_DNA-bd_euk    TopoI_DNA-bd_euk_N_sf    TopoI_euk   
Domain families : Pfam (Sanger)Topo_C_assoc (PF14370)    Topoisom_I (PF01028)    Topoisom_I_N (PF02919)   
Domain families : Pfam (NCBI)pfam14370    pfam01028    pfam02919   
Domain families : Smart (EMBL)TOPEUc (SM00435)  
Conserved Domain (NCBI)TOP1MT
SuperfamilyQ969P6
AlphaFold pdb e-kbQ969P6   
Human Protein Atlas [tissue]ENSG00000184428-TOP1MT [tissue]
HPRD16214
Protein Interaction databases
DIP (DOE-UCLA)Q969P6
IntAct (EBI)Q969P6
BioGRIDTOP1MT
STRING (EMBL)TOP1MT
ZODIACTOP1MT
Ontologies - Pathways
QuickGOQ969P6
Ontology : AmiGODNA binding  DNA topoisomerase type I (single strand cut, ATP-independent) activity  nucleoplasm  chromosome  mitochondrion  DNA replication  DNA topological change  mitochondrial nucleoid  mitochondrial nucleoid  
Ontology : EGO-EBIDNA binding  DNA topoisomerase type I (single strand cut, ATP-independent) activity  nucleoplasm  chromosome  mitochondrion  DNA replication  DNA topological change  mitochondrial nucleoid  mitochondrial nucleoid  
NDEx NetworkTOP1MT
Atlas of Cancer Signalling NetworkTOP1MT
Wikipedia pathwaysTOP1MT
Orthology - Evolution
OrthoDB116447
GeneTree (enSembl)ENSG00000184428
Phylogenetic Trees/Animal Genes : TreeFamTOP1MT
Homologs : HomoloGeneTOP1MT
Homology/Alignments : Family Browser (UCSC)TOP1MT
Gene fusions - Rearrangements
Fusion : QuiverTOP1MT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOP1MT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOP1MT
dbVarTOP1MT
ClinVarTOP1MT
MonarchTOP1MT
1000_GenomesTOP1MT 
Exome Variant ServerTOP1MT
GNOMAD BrowserENSG00000184428
Varsome BrowserTOP1MT
ACMGTOP1MT variants
VarityQ969P6
Genomic Variants (DGV)TOP1MT [DGVbeta]
DECIPHERTOP1MT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTOP1MT 
Mutations
ICGC Data PortalTOP1MT 
TCGA Data PortalTOP1MT 
Broad Tumor PortalTOP1MT
OASIS PortalTOP1MT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOP1MT  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTOP1MT
Mutations and Diseases : HGMDTOP1MT
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTOP1MT
DgiDB (Drug Gene Interaction Database)TOP1MT
DoCM (Curated mutations)TOP1MT
CIViC (Clinical Interpretations of Variants in Cancer)TOP1MT
Cancer3DTOP1MT
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606387   
Orphanet
DisGeNETTOP1MT
MedgenTOP1MT
Genetic Testing Registry TOP1MT
NextProtQ969P6 [Medical]
GENETestsTOP1MT
Target ValidationTOP1MT
Huge Navigator TOP1MT [HugePedia]
ClinGenTOP1MT
Clinical trials, drugs, therapy
MyCancerGenomeTOP1MT
Protein Interactions : CTDTOP1MT
Pharm GKB GenePA134922772
PharosQ969P6
Clinical trialTOP1MT
Miscellaneous
canSAR (ICR)TOP1MT
HarmonizomeTOP1MT
DataMed IndexTOP1MT
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTOP1MT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:35:54 CEST 2021

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