Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NTHL1 (nth like DNA glycosylase 1)

Identity

Alias (NCBI)FAP3
NTH1
OCTS3
hNTH1
HGNC (Hugo) NTHL1
HGNC Alias symbNTH1
OCTS3
HGNC Previous namenth (E.coli endonuclease III)-like 1
 nth endonuclease III-like 1 (E. coli)
LocusID (NCBI) 4913
Atlas_Id 41587
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 2039820 and ends at 2047834 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)

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)NTHL1   8028
Cards
Entrez_Gene (NCBI)NTHL1    nth like DNA glycosylase 1
AliasesFAP3; NTH1; OCTS3; hNTH1
GeneCards (Weizmann)NTHL1
Ensembl hg19 (Hinxton)ENSG00000065057 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065057 [Gene_View]  ENSG00000065057 [Sequence]  chr16:2039820-2047834 [Contig_View]  NTHL1 [Vega]
ICGC DataPortalENSG00000065057
TCGA cBioPortalNTHL1
AceView (NCBI)NTHL1
Genatlas (Paris)NTHL1
SOURCE (Princeton)NTHL1
Genetics Home Reference (NIH)NTHL1
Genomic and cartography
GoldenPath hg38 (UCSC)NTHL1  -     chr16:2039820-2047834 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NTHL1  -     16p13.3   [Description]    (hg19-Feb_2009)
GoldenPathNTHL1 - 16p13.3 [CytoView hg19]  NTHL1 - 16p13.3 [CytoView hg38]
ImmunoBaseENSG00000065057
Genome Data Viewer NCBINTHL1 [Mapview hg19]  
OMIM602656   616415   
Gene and transcription
Genbank (Entrez)AB001575 BC000391 BC003014 BE900738 BG468617
RefSeq transcript (Entrez)NM_001318193 NM_001318194 NM_002528
Consensus coding sequences : CCDS (NCBI)NTHL1
Gene ExpressionNTHL1 [ NCBI-GEO ]   NTHL1 [ EBI - ARRAY_EXPRESS ]   NTHL1 [ SEEK ]   NTHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)NTHL1 [ Firebrowse - Broad ]
GenevisibleExpression of NTHL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4913
GTEX Portal (Tissue expression)NTHL1
Human Protein AtlasENSG00000065057-NTHL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78549   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78549  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78549
PhosPhoSitePlusP78549
Domaine pattern : Prosite (Expaxy)ENDONUCLEASE_III_2 (PS01155)   
Domains : Interpro (EBI)DNA_glycosylase    Endonuclease-III-like_CS2    Endonuclease3_FeS-loop_motif    HhH-GPD_domain    HhH_motif    HTH_base_excis_C    NTH1   
Domain families : Pfam (Sanger)HHH (PF00633)    HhH-GPD (PF00730)   
Domain families : Pfam (NCBI)pfam00633    pfam00730   
Domain families : Smart (EMBL)ENDO3c (SM00478)  FES (SM00525)  
Conserved Domain (NCBI)NTHL1
SuperfamilyP78549
AlphaFold pdb e-kbP78549   
Human Protein Atlas [tissue]ENSG00000065057-NTHL1 [tissue]
HPRD04039
Protein Interaction databases
DIP (DOE-UCLA)P78549
IntAct (EBI)P78549
BioGRIDNTHL1
STRING (EMBL)NTHL1
ZODIACNTHL1
Ontologies - Pathways
QuickGOP78549
Ontology : AmiGOoxidized pyrimidine nucleobase lesion DNA N-glycosylase activity  damaged DNA binding  double-stranded DNA binding  DNA-(apurinic or apyrimidinic site) endonuclease activity  DNA-(apurinic or apyrimidinic site) endonuclease activity  endonuclease activity  protein binding  nucleus  nucleus  nucleoplasm  mitochondrion  base-excision repair, AP site formation  base-excision repair, AP site formation  base-excision repair, gap-filling  nucleotide-excision repair, DNA incision, 5'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  DNA N-glycosylase activity  depyrimidination  metal ion binding  4 iron, 4 sulfur cluster binding  class I DNA-(apurinic or apyrimidinic site) endonuclease activity  
Ontology : EGO-EBIoxidized pyrimidine nucleobase lesion DNA N-glycosylase activity  damaged DNA binding  double-stranded DNA binding  DNA-(apurinic or apyrimidinic site) endonuclease activity  DNA-(apurinic or apyrimidinic site) endonuclease activity  endonuclease activity  protein binding  nucleus  nucleus  nucleoplasm  mitochondrion  base-excision repair, AP site formation  base-excision repair, AP site formation  base-excision repair, gap-filling  nucleotide-excision repair, DNA incision, 5'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  DNA N-glycosylase activity  depyrimidination  metal ion binding  4 iron, 4 sulfur cluster binding  class I DNA-(apurinic or apyrimidinic site) endonuclease activity  
Pathways : KEGGBase excision repair   
NDEx NetworkNTHL1
Atlas of Cancer Signalling NetworkNTHL1
Wikipedia pathwaysNTHL1
Orthology - Evolution
OrthoDB4913
GeneTree (enSembl)ENSG00000065057
Phylogenetic Trees/Animal Genes : TreeFamNTHL1
Homologs : HomoloGeneNTHL1
Homology/Alignments : Family Browser (UCSC)NTHL1
Gene fusions - Rearrangements
Fusion : QuiverNTHL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNTHL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NTHL1
dbVarNTHL1
ClinVarNTHL1
MonarchNTHL1
1000_GenomesNTHL1 
Exome Variant ServerNTHL1
GNOMAD BrowserENSG00000065057
Varsome BrowserNTHL1
ACMGNTHL1 variants
VarityP78549
Genomic Variants (DGV)NTHL1 [DGVbeta]
DECIPHERNTHL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNTHL1 
Mutations
ICGC Data PortalNTHL1 
TCGA Data PortalNTHL1 
Broad Tumor PortalNTHL1
OASIS PortalNTHL1 [ Somatic mutations - Copy number]
Cancer Gene: CensusNTHL1 
Somatic Mutations in Cancer : COSMICNTHL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNTHL1
Mutations and Diseases : HGMDNTHL1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNTHL1
DgiDB (Drug Gene Interaction Database)NTHL1
DoCM (Curated mutations)NTHL1
CIViC (Clinical Interpretations of Variants in Cancer)NTHL1
Cancer3DNTHL1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602656    616415   
Orphanet23666   
DisGeNETNTHL1
MedgenNTHL1
Genetic Testing Registry NTHL1
NextProtP78549 [Medical]
GENETestsNTHL1
Target ValidationNTHL1
Huge Navigator NTHL1 [HugePedia]
ClinGenNTHL1
Clinical trials, drugs, therapy
MyCancerGenomeNTHL1
Protein Interactions : CTDNTHL1
Pharm GKB GenePA31811
PharosP78549
Clinical trialNTHL1
Miscellaneous
canSAR (ICR)NTHL1
HarmonizomeNTHL1
DataMed IndexNTHL1
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNTHL1
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 15:23:25 CEST 2021

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