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NTHL1 (nth like DNA glycosylase 1)

Identity

Alias_namesnth (E.coli endonuclease III)-like 1
nth endonuclease III-like 1 (E. coli)
Alias_symbol (synonym)NTH1
OCTS3
Other aliasFAP3
hNTH1
HGNC (Hugo) NTHL1
LocusID (NCBI) 4913
Atlas_Id 41587
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 2039815 and ends at 2047869 bp from pter ( according to hg38-Dec_2013)

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  4913  nth like DNA glycosylase 1
AliasesFAP3; NTH1; OCTS3; hNTH1
GeneCards (Weizmann)NTHL1
Ensembl hg19 (Hinxton)ENSG00000065057 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065057 [Gene_View]  chr16:2039815-2047869 [Contig_View]  NTHL1 [Vega]
ICGC DataPortalENSG00000065057
TCGA cBioPortalNTHL1
AceView (NCBI)NTHL1
Genatlas (Paris)NTHL1
WikiGenes4913
SOURCE (Princeton)NTHL1
Genetics Home Reference (NIH)NTHL1
Genomic and cartography
GoldenPath hg38 (UCSC)NTHL1  -     chr16:2039815-2047869 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NTHL1  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblNTHL1 - 16p13.3 [CytoView hg19]  NTHL1 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBINTHL1 [Mapview hg19]  NTHL1 [Mapview hg38]
OMIM602656   616415   
Gene and transcription
Genbank (Entrez)AB001575 BC000391 BC003014 BE900738 BG468617
RefSeq transcript (Entrez)NM_001318193 NM_001318194 NM_002528
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NTHL1
Cluster EST : UnigeneHs.66196 [ NCBI ]
CGAP (NCI)Hs.66196
Alternative Splicing GalleryENSG00000065057
Gene ExpressionNTHL1 [ NCBI-GEO ]   NTHL1 [ EBI - ARRAY_EXPRESS ]   NTHL1 [ SEEK ]   NTHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)NTHL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4913
GTEX Portal (Tissue expression)NTHL1
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
Splice isoforms : SwissVarP78549
PhosPhoSitePlusP78549
Domaine pattern : Prosite (Expaxy)ENDONUCLEASE_III_2 (PS01155)   
Domains : Interpro (EBI)DNA_glycosylase    Endonuclease-III-like_CS2    Endouclease3_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
DMDM Disease mutations4913
Blocks (Seattle)NTHL1
SuperfamilyP78549
Human Protein AtlasENSG00000065057
Peptide AtlasP78549
HPRD04039
IPIIPI00001722   
Protein Interaction databases
DIP (DOE-UCLA)P78549
IntAct (EBI)P78549
FunCoupENSG00000065057
BioGRIDNTHL1
STRING (EMBL)NTHL1
ZODIACNTHL1
Ontologies - Pathways
QuickGOP78549
Ontology : AmiGOoxidized pyrimidine nucleobase lesion DNA N-glycosylase activity  oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity  double-stranded DNA binding  DNA-(apurinic or apyrimidinic site) lyase activity  endonuclease activity  protein binding  nucleus  nucleoplasm  mitochondrion  base-excision repair, AP site formation  nucleotide-excision repair, DNA incision, 5'-to lesion  oxidized purine nucleobase lesion DNA N-glycosylase activity  DNA N-glycosylase activity  depyrimidination  metal ion binding  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBIoxidized pyrimidine nucleobase lesion DNA N-glycosylase activity  oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity  double-stranded DNA binding  DNA-(apurinic or apyrimidinic site) lyase activity  endonuclease activity  protein binding  nucleus  nucleoplasm  mitochondrion  base-excision repair, AP site formation  nucleotide-excision repair, DNA incision, 5'-to lesion  oxidized purine nucleobase lesion DNA N-glycosylase activity  DNA N-glycosylase activity  depyrimidination  metal ion binding  4 iron, 4 sulfur cluster binding  
Pathways : KEGGBase excision repair   
NDEx NetworkNTHL1
Atlas of Cancer Signalling NetworkNTHL1
Wikipedia pathwaysNTHL1
Orthology - Evolution
OrthoDB4913
GeneTree (enSembl)ENSG00000065057
Phylogenetic Trees/Animal Genes : TreeFamNTHL1
HOVERGENP78549
HOGENOMP78549
Homologs : HomoloGeneNTHL1
Homology/Alignments : Family Browser (UCSC)NTHL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNTHL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NTHL1
dbVarNTHL1
ClinVarNTHL1
1000_GenomesNTHL1 
Exome Variant ServerNTHL1
ExAC (Exome Aggregation Consortium)NTHL1 (select the gene name)
Genetic variants : HAPMAP4913
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]
Mutations and Diseases : HGMDNTHL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NTHL1
DgiDB (Drug Gene Interaction Database)NTHL1
DoCM (Curated mutations)NTHL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NTHL1 (select a term)
intoGenNTHL1
Cancer3DNTHL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602656    616415   
Orphanet23666   
MedgenNTHL1
Genetic Testing Registry NTHL1
NextProtP78549 [Medical]
TSGene4913
GENETestsNTHL1
Target ValidationNTHL1
Huge Navigator NTHL1 [HugePedia]
snp3D : Map Gene to Disease4913
BioCentury BCIQNTHL1
ClinGenNTHL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4913
Chemical/Pharm GKB GenePA31811
Clinical trialNTHL1
Miscellaneous
canSAR (ICR)NTHL1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNTHL1
EVEXNTHL1
GoPubMedNTHL1
iHOPNTHL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:09:30 CEST 2017

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