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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NTHL1 Gene

protein-coding GIFtS: 68
GCID: GC16M002089

Nth Endonuclease III-Like 1 (E. Coli)

(Previous name: nth (E.coli endonuclease III)-like 1)

Microbiology & Infectious Diseases Congress

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Nth Endonuclease III-Like 1 (E. Coli)¹ ²
OCTS3² ³ ⁵
NTH1² ³
Nth (E.Coli Endonuclease III)-Like 1¹
Endonuclease III-Like Protein 1²
EC 4.2.99.18³

External Ids:	HGNC: 8028¹	Entrez Gene: 4913²	Ensembl: ENSG00000065057⁷	OMIM: 602656⁵	UniProtKB: P78549³

Export aliases for NTHL1 gene to outside databases

Previous GC identifers: GC16M002107 GC16M002030 GC16M002031 GC16M002032 GC16M002014

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NTHL1 Gene:

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 and has apurinic/apyrimidinic lyase activity. (provided by RefSeq, Oct 2008)

GeneCards Summary for NTHL1 Gene:

NTHL1 (nth endonuclease III-like 1 (E. coli)) is a protein-coding gene. Diseases associated with NTHL1 include primary sclerosing cholangitis, and sclerosing cholangitis, and among its related super-pathways are Removal of DNA patch containing abasic residue and Base-free sugar-phosphate removal via the single-nucleotide replacement pathway. GO annotations related to this gene include double-stranded DNA binding and endonuclease activity.

UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549

Function: Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incises

damaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for

the repair of both oxidative DNA damage and spontaneous mutagenic lesions

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NT_010393.16 NC_018927.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NTHL1 gene promoter:
NF-1 p53 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NTHL1 promoter sequence

Search SABiosciences Chromatin IP Primers for NTHL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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: 16p13.3

NTHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NTHL1 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M002089: view genomic region (about GC identifiers)

Start:	2,089,816 bp from pter	End:	2,097,867 bp from pter
Size:	8,052 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 does not appear to play a role in catalysis, but is probably

involved 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

mid S-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 Q9BPX2

Explore the universe of human proteins at neXtProt for NTHL1: NX_P78549

Explore proteomics data for NTHL1 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P78549

NTHL1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_002519.1

ENSEMBL proteins:

ENSP00000219066 ENSP00000455267 ENSP00000457818 ENSP00000456301

Reactome Protein details: P78549
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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	12531031
GO:0005654	nucleoplasm	TAS	--
GO:0005739	mitochondrion	IEA	--

NTHL1 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/6 InterPro protein domains (see all 6):

IPR000445 HhH_motif

IPR023170 HTH_base_excis_C

IPR011257 DNA_glycosylase

IPR003651 Endouclease3_FeS-loop_motif

IPR004036 Endonuclease-III_CS2

Graphical View of Domain Structure for InterPro Entry P78549

ProtoNet protein and cluster: P78549

2 Blocks protein domains:

IPB004036 Endonuclease III

IPB011257 DNA glycosylase

UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549

Similarity: Belongs to the Nth/MutY family

NTHL1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NTHL1_HUMAN, P78549

Function: Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incises

damaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for

the repair of both oxidative DNA damage and spontaneous mutagenic lesions

Catalytic activity: The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination

reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate

Genatlas biochemistry entry for NTHL1:

nth (E coli endonuclease III)-like 1,34.3 kDa,with lyase activity,involved in the excision of damaged pyrimidines

Enzyme Number (IUBMB): EC 4.2.99.18¹

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	--	--
GO:0003690	double-stranded DNA binding	IDA	15358233
GO:0003824	catalytic activity	--	--
GO:0003906	DNA-(apurinic or apyrimidinic site) lyase activity	IDA	8990169
GO:0004519	endonuclease activity	IEA	--

NTHL1 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for NTHL1:

Decreased homologous recombina

Decreased influenza A H1N1 (A/

Decreased influenza A/WSN/33 r

5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Nthl1):

behavior/neurological

cellular

homeostasis/metabolism

other

tumorigenesis

NTHL1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for NTHL1: Nthl1^tm1Tbor Nthl1^tm1Yas

inGenious Targeting Laboratory - Custom generated mouse model solutions for NTHL1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NTHL1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for NTHL1 About

See pathways by source

SuperPath

Contained pathways About

Resolution of Abasic Sites (AP sites)

Resolution of Abasic Sites (AP sites)	0.89	Removal of DNA patch containing abasic residue	0.89
Resolution of AP sites via the multiple-nucleotide patch replacement pathway	0.89	Base excision repair	0.53
Base Excision Repair	0.89

Base-Excision Repair, AP Site Formation

Base-free sugar-phosphate removal via the single-nucleotide replacement pathway	0.90	Recognition and association of DNA glycosylase with site containing an affected pyrimidine	0.62
Displacement of DNA glycosylase by APE1	0.90	Cleavage of the damaged pyrimidine	0.62
Base-Excision Repair, AP Site Formation	0.89	Depyrimidination	0.62
Resolution of AP sites via the single-nucleotide replacement pathway	0.83

DNA damage Role of Brca1 and Brca2 in DNA repair

DNA damage Role of Brca1 and Brca2 in DNA repair

1.00

Nucleotide Excision Repair

DNA Repair

0.46

Chks in Checkpoint Regulation

DNA Repair Mechanisms

0.32

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for NTHL1

DNA damage Role of Brca1 and Brca2 in DNA repair

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for NTHL1

DNA Repair Mechanisms

1 GeneGo (Thomson Reuters) Pathway for NTHL1

DNA damage Role of Brca1 and Brca2 in DNA repair

5/12 Reactome Pathways for NTHL1 (see all 12)

	Recognition and association of DNA glycosylase with site containing an affected pyrimidine
	Removal of DNA patch containing abasic residue
	DNA Repair
	Resolution of AP sites via the multiple-nucleotide patch replacement pathway
	Base-Excision Repair, AP Site Formation

1 Kegg Pathway (Kegg details for NTHL1):

Base excision repair

NTHL1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NTHL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/54 Interacting proteins for NTHL1 (P78549³ ENSP00000219066⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 54)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ERCC5	P28715³, ENSP00000347978⁴	I2D: score=3 STRING: ENSP00000347978
GAPDHS	O14556³, ENSP00000222286⁴	I2D: score=2 STRING: ENSP00000222286
OGG1	O15527³, ENSP00000306561⁴	I2D: score=1 STRING: ENSP00000306561
NUDT1	P36639³, ENSP00000339503⁴	I2D: score=2 STRING: ENSP00000339503
RNMTL1	Q9HC36³, ENSP00000306080⁴	I2D: score=2 STRING: ENSP00000306080

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006281	DNA repair	TAS	--
GO:0006284	base-excision repair	TAS	--
GO:0006285	base-excision repair, AP site formation	TAS	--
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	IDA	8990169
GO:0045008	depyrimidination	TAS	--

NTHL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NTHL1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NTHL1

2 Novoseek inferred chemical compound relationships for NTHL1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
thymine glycol	88.6	3	19414504 (2)
oxygen	4.87	1	17389588 (1)

Search CenterWatch for drugs/clinical trials and news about NTHL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NTHL1 gene:

NM_002528.5

Unigene Cluster for NTHL1:

Nth endonuclease III-like 1 (E. coli)

Hs.66196 [show with all ESTs]

Unigene Representative Sequence: BQ067653

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000219066(uc002col.1) ENST00000561862 ENST00000565406 ENST00000566380

ENST00000562951 ENST00000568513 ENST00000567727 ENST00000561841 ENST00000562120

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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Additional mRNA sequence:

AB001575.1 AK298247.1 BC000391.2 BC003014.1 U79718.1 U81285.1 Y09687.1

4 DOTS entries:

DT.111381 DT.120674915 DT.95275667 DT.91766138

12 AceView cDNA sequences:

BC003014 BC000391 U81285 CR597616 NM_002528 AB001575 CR625882 Y09687

U79718 BX444894 BX379864 BE693591

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for NTHL1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	·	6c	·	6d
SP1:											-		-						-
SP2:													-						-
SP3:													-		-				-
SP4:													-		-				-
SP5:																			-

ECgene alternative splicing isoforms for NTHL1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NTHL1 expression in normal human tissues (normalized intensities) NTHL1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCTCTGGCCG

About this image

NTHL1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/34 selected tissues (see all 34) fully expand


Epithelium
vagina ; squamous epithelial cells

Uterus
uterus, post-menopause ; glandular cells

Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Colon (Gastrointestinal Tract) fully expand to see all 4 entries
colon ; peripheral nerve/ganglion

Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

See NTHL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NTHL1

SOURCE GeneReport for Unigene cluster: Hs.66196

UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549

Tissue specificity: Widely expressed with highest levels in heart and lowest levels in lung and liver

SABiosciences Expression via Pathway-Focused PCR Arrays including NTHL1:

DNA Damage Signaling Pathway in human mouse rat

DNA Repair in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NTHL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for NTHL1 gene from 9/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nthl1^{1 , 5}	nth (endonuclease III)-like 1 (E.coli)^{1, 5}	81.02(n)¹ 82.03(a)¹		17 (12.42 cM)⁵ 18207¹ NM_008743.2¹ NP_032769.2¹ 24632682⁵
chicken (Gallus gallus)	Aves	NTHL1¹	nth endonuclease III-like 1 (E. coli)	69.6(n) 70.7(a)		416551 NM_001079575.1 NP_001073043.1
lizard (Anolis carolinensis)	Reptilia	NTHL1⁶	Uncharacterized protein	75(a)	1 ↔ 1	GL344117.1(13876-16144)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.11448²	Transcribed sequence with moderate similarity to protein more	73.96(n)		137694998
zebrafish (Danio rerio)	Actinopterygii	nthl1¹	nth endonuclease III-like 1 (E. coli)	67.91(n) 71.49(a)		100008368 XM_001346607.3 XP_001346643.3
fruit fly (Drosophila melanogaster)	Insecta	CG9272^{1 , 3}	DNA repair pyrimidine-specific oxidized base lesion more³ CG9272¹	50(a)³ 54.77(n)¹ 50.59(a)¹		38F6³ 35365¹ NM_136234.2¹ NP_610078.2¹
worm (Caenorhabditis elegans)	Secernentea	R10E4.5³ nth-1¹	endonuclease³ Protein NTH-1¹	51(a)³ 54.53(n)¹ 52.43(a)¹		III(4363463-4365134)³ 187770¹ NM_065458.1¹ NP_497859.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	NTG1(YAL015C)⁴ NTG2¹	DNA N-glycosylase and apurinic/apyrimidinic (AP) lyase more⁴ Ntg2p¹	47.62(n)¹ 41.9(a)¹		1(128102-126903)⁴ 854114¹ NP_014599.1¹ 851218⁴ NP_009387.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	ATNTH1¹	endonuclease III	54.48(n) 53.3(a)		817703 NM_001084519.1 NP_001077988.1

ENSEMBL Gene Tree for NTHL1 (if available)
TreeFam Gene Tree for NTHL1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_016125⁴		--	--	see VAR_016125	2	R W	mis⁴		0	--	--	--	--
VAR_016126⁴		--	--	see VAR_016126	2	R K	mis⁴		0	--	--	--	--
rs148945428^1,2	C	--	2024289(+)	`CCCTGC/TGACCT`	1	--	ds500¹		0	--	--	--	--
rs193182972^1,2	C	--	2024395(+)	`ACCCTC/GGCAGA`	1	--	ds500¹		0	--	--	--	--
rs143141537^1,2		--	2024465(+)	`GGGGCC/TGGCGG`	1	--	ds500¹		0	--	--	--	--
rs3211992^1,2	H	--	2024632(-)	`GGGACG/ATGACA`	1	--	ds500¹		5		NS EA	594
rs3211991^1,2	H	--	2024672(-)	`GCTCGC/AGTGTC`	1	--	ds500¹		5		NS EA	596
rs112291182^1,2	C	--	2024784(+)	`ATTCAG/ACAGGC`	1	--	ut3¹		1		CSA	2
rs12596194^1,2	C,H	--	2024798(+)	`GCTTCC/TTGAAG`	1	--	ut3¹ ese³		4		NS EA	418
rs200420874^1,2		--	2024901(+)	`GTTGAA/GGCAGG`	2	L F	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NTHL1 (2089816 - 2097867 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/19 variations for NTHL1 (see all 19): About this table

Variant ID	Type	Subtype	PubMed ID
esv2422427	CNV	Duplication	17116639
dgv2545n71	CNV	Loss	21882294
dgv2546n71	CNV	Loss	21882294
nsv905048	CNV	Loss	21882294
nsv905101	CNV	Loss	21882294
dgv2540n71	CNV	Loss	21882294
nsv905102	CNV	Loss	21882294
nsv523037	CNV	Loss	19592680
nsv471072	CNV	Loss	18288195
dgv2547n71	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): NTHL1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602656 OMIM disorders: --

14 diseases for NTHL1: About MalaCards

primary sclerosing cholangitis sclerosing cholangitis tuberous sclerosis cholangitis

mitochondrial disorders graft versus host disease chronic lymphocytic leukemia pneumonia

tuberculosis multiple sclerosis gastric cancer adenoma

colorectal cancer leukemia

NTHL1 for disorders About GeneDecksing

2 Novoseek inferred disease relationships for NTHL1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tuberous sclerosis	45.3	2	9831664 (1), 8990169 (1)
cancer	6.1	1	19443904 (1)

Genetic Association Database (GAD): NTHL1
Human Genome Epidemiology (HuGE) Navigator: NTHL1 (8 documents)

Export disorders for NTHL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for NTHL1 gene, integrated from 9 sources (see all 66):
(articles sorted by number of sources associating them with NTHL1)

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Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III. (PubMed id 8990169)^{1, 2, 3, 9} 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)
Altered expression of the human base excision repair gene NTH1 in gastric cancer. (PubMed id 19414504)^{1, 4, 9} Goto M....Sugimura H. (2009)
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, 9} Imai K.... Seki S. (1998)
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, 4, 9} Dallosso A.R....Sampson J.R. (2008)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (2010)
Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)^{1, 4} Briggs F.B....Barcellos L.F. (2010)
Association between genetic variants in the base exci sion repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)^{1, 4} Thyagarajan B....Arora M. (2010)
Joint influence of small-effect genetic variants on h uman longevity. (PubMed id 20834067)^{1, 4} Yashin A.I....Ukraintseva S.V. (2010)
Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)^{1, 4} Arora M....Thyagarajan B. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4913	HGNC: 8028	AceView: NTHL1	Ensembl:ENSG00000065057	euGenes: HUgn4913
ECgene: NTHL1	Kegg: 4913	H-InvDB: NTHL1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NTHL1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for NTHL1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/nthl1/

Intellectual Property for NTHL1 gene
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Patent Information for NTHL1 gene:
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GeneCards and IP:
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Nth Endonuclease III-Like 1 (E. Coli)

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