Aliases &
Descriptions
for NTHL1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| nth endonuclease III-like 1 (E. coli)1 2 | | OCTS31 2 3 5 | | NTH11 2 3 | | nth (E.coli endonuclease III)-like 11 | | endonuclease III-like protein 12 | | EC 4.2.99.183 |
Export aliases for NTHL1 gene to outside databasesPrevious GC identifers: GC16M002107 GC16M002030 GC16M002031 GC16M002032 GC16M002089 |
Summaries
for NTHL1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NTHL1:
The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E.coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues andhas apurinic/apyrimidinic lyase activity. (provided by RefSeq)
UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549Function: Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incisesdamaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for therepair of both oxidative DNA damage and spontaneous mutagenic lesions
Gene Wiki entry for NTHL1 |
Genomic Views
for NTHL1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NTHL1 gene promoter:
NF-kappaB1 IRF-1 HNF-4alpha2 NF-kappaB COUP-TF1 GR-alpha GR-beta p53 NF-1 CREB
Other transcription factors
Search SABiosciences Chromatin IP Primers for NTHL1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for NTHL1  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3NTHL1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M002014: view genomic region
(about GC identifiers)
Start:
|
2,014,043 bp from pter |
End:
|
2,022,132 bp from pter |
Size:
|
8,090 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr16- 2,089,816-2,097,867 |
RefSeq DNA sequence:- NC_000016.9 NT_010393.16
|
Proteins
for NTHL1 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549 (See
protein sequence)Recommended Name: Endonuclease III-like protein 1 Size: 312 amino acids; 34390 Da
Cofactor: Binds 1 4Fe-4S cluster. The cluster is not important for the catalytic activity, but which is probablyinvolved in the proper positioning of the enzyme along the DNA strand
Subcellular location: Nucleus
Developmental stage: Expression levels are regulated during the cell cycle with increased levels during early and midS-phase
Caution: It is uncertain whether Met-1, Met-9 or Met-16 is the initiator
Sequence caution: Sequence=AAC51136.1; Type=Erroneous initiation; Sequence=AAH03014.1; Type=Erroneous initiation;Sequence=BAA19413.1; Type=Erroneous initiation; Sequence=BAA32695.1; Type=Erroneous initiation;
Secondary accessions: Q1MVR1 Q99566 Q99794 Q9BPX2Explore the universe of human proteins at neXtProt for NTHL1: NX_P78549
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_002519.1
ENSEMBL proteins: ENSP00000219066
Human Recombinant Proteins
3 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
NTHL1 for ontologies About GeneDecksing
Antibodies for NTHL1:
Assays for NTHL1: |
Protein
Domains/
Families
for NTHL1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NTHL1 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry P78549ProtoNet protein and cluster: P78549 2 Blocks protein families: IPB004036 Endonuclease III IPB011257 DNA glycosylase
UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549Similarity: Belongs to the nth/mutY family |
Gene Function
for NTHL1 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549Function: Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incisesdamaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for therepair of both oxidative DNA damage and spontaneous mutagenic lesionsCatalytic activity: The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-eliminationreaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphateEnzyme Number (IUBMB): EC 4.2.99.18
Genatlas biochemistry entry for NTHL1:nth (E coli endonuclease III)-like 1,34.3 kDa,with lyase activity,involved in the excision of damaged pyrimidines5/12 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 12): About this table
NTHL1 for ontologies About GeneDecksing
Animal Models: 5 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Nthl1):
NTHL1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for NTHL1 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
NTHL1 for pathways About GeneDecksing
1  Millipore Pathway for NTHL1
1  Kegg Pathway (Kegg details for NTHL1):
SABiosciences Pathway-Focused PCR Arrays including NTHL1: PAHS-029A PAHS-042A
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NTHL1
4 Interacting proteins for NTHL1 (P785491) via UniProtKB, MINT, and/or STRINGAbout this table
5 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
NTHL1 for ontologies About GeneDecksing
|
Drugs & Compounds
for NTHL1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
NTHL1 for compounds About GeneDecksing
 Browse Tocris compounds for NTHL1
2  Novoseek chemical compound relationships for NTHL1 gene
About this table
|
Transcripts
for NTHL1 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for NTHL1 gene: NM_002528.5 Additional cDNA sequence: AB001575.1 AK298247.1 BC000391.2 BC003014.1 CR597616.1 CR625882.1 U79718.1 U81285.1 Y09687.1 4 DOTS entries: DT.111381 DT.120674915 DT.95275667 DT.91766138 12 AceView cDNA sequences: BC003014 BC000391 NM_002528 U81285 CR625882 AB001575 CR597616 U79718 Y09687 BX444894 BX379864 BE693591
 highest scoring ESTs for NTHL1:AB001575 BC000391 BC003014 U79718 U81285 Y09687 AA311265 AL566343 BE250955 BE256091 Unigene Cluster for NTHL1: Nth endonuclease III-like 1 (E. coli) Hs.66196 [show with all ESTs]Unigene Representative Sequence: BQ067653
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for NTHL1 (see all 6)
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d |
|---|
|
| SP1: | | | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | - | | | | - | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | - | | - | | | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for NTHL1
1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000219066(uc002col.1 uc002com.1)
|
Expression
for NTHL1 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| NTHL1 expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching NTHL1 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 40325_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
1.00 |
1.00 |
AB014460 |
0.20 |
1.00 |
0.72 |
1 |
| 209731_at2, 3
|
U133-A |
1 |
0.82 |
1.00 |
-- |
-- |
U79718 |
0.80 |
1.00 |
0.91 |
1 |
| 209731_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
NTHL1 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GCTCTGGCCG
SOURCE GeneReport for Unigene cluster: Hs.66196
Expression variation in blood from EXPOLDB for NTHL1 UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549Tissue specificity: Widely expressed with highest levels in heart and lowest levels in lung and liver
SABiosciences Expression via Pathway-Focused PCR Arrays including NTHL1: PAHS-029A PAHS-042A
|
Orthologs
for NTHL1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for NTHL1 gene from 5/18 species (see all 18)
About this table Species with no ortholog for NTHL1
ENSEMBL Gene Tree for NTHL1 (if available) |
Paralogs
for NTHL1 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| -- |
Genomic Variants
for NTHL1 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 16 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for NTHL1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for NTHL1
2 CNVs: 30000 5329 | | QIAGEN SeqTarget long-range PCR primers for resequencing NTHL1 |
|
Disorders & Mutations
for NTHL1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NTHL1 for disorders About GeneDecksing
OMIM: 602656
2 Novoseek disease relationships for NTHL1 gene
About this table
Human Gene Mutation Database (HGMD): NTHL1
Human Genome Epidemiology (HuGE) Navigator: NTHL1 (7 documents)
Export disorders and mutations for NTHL1 gene to outside databases
|
Medical News
for NTHL1 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for NTHL1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/57 PubMed articles for NTHL1 gene, integrated from 7 sources (see all 57):
(articles sorted by number of sources associating them with NTHL1)- Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III. (PubMed id 8990169)1, 2, 3, 7 Aspinwall R....Hickson I.D. (1997)
- Cloning and expression of the cDNA encoding the human homologue of the DNA repair enzyme, Escherichia coli endonuclease III. (PubMed id 9045706)1, 2, 3 Hilbert T.P.... Teebor G.W. (1997)
- Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes. (PubMed id 9831664)1, 2, 7 Imai K.... Seki S. (1998)
- The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Differential intracellular localization of the human and mouse endonuclease III homologs and analysis of the sorting signals. (PubMed id 12531031)1, 2 Ikeda S.... Seki Y. (2002)
- Cell-cycle regulation, intracellular sorting and induced overexpression of the human NTH1 DNA glycosylase involved in removal of formamidopyrimidine residues from DNA. (PubMed id 10882850)1, 2 Luna L.... Seeberg E. (2000)
- Purification and characterization of human NTH1, a homolog of Escherichia coli endonuclease III. Direct identification of Lys-212 as the active nucleophilic residue. (PubMed id 9705289)1, 2 Ikeda S.... Mitra S. (1998)
- Altered expression of the human base excision repair gene NTH1 in gastric cancer. (PubMed id 19414504)1, 7 Goto M....Sugimura H. (2009)
- Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. (PubMed id 18515411)1, 7 Dallosso A.R....Sampson J.R. (2008)
|
External Searches for NTHL1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NTHL1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NTHL1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NTHL1 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for NTHL1 gene:
Search GeneIP for patents involving NTHL1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NTHL1 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
| |  | Search Tocris compounds for NTHL1 |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for NTHL1 |
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