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APEX1 Gene

protein-coding GIFtS: 68

GC14P019993

APEX nuclease (multifunctional DNA repair enzyme) 1
(Previous name: APEX nuclease (multifunctional DNA repair enzyme) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: APEX)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
APE ^¹, ², ³
APE-1 ^¹
APE1 ^²
APEN ^¹, ², ³
APEX ^², ³
APX ^¹, ², ³
EC 4.2.99.18 ^³
HAP1 ^¹, ², ³
OTTHUMP00000163988 ^²
REF-1 ^¹
REF1 ^¹, ², ³

Descriptions
AP endonuclease 1 ^³
AP endonuclease class I ^²
AP lyase ^²
APEX nuclease ^³
APEX nuclease (multifunctional DNA repair enzyme) ^¹
APEX nuclease (multifunctional DNA repair enzyme) 1 ^²
APEX nuclease 1 ^²
Apurinic-apyrimidinic endonuclease 1 ^³
DNA-(apurinic or apyrimidinic site) lyase ^²
Protein REF-1 ^³
apurinic/apyrimidinic (abasic) endonuclease ^²
apurinic/apyrimidinic exonuclease ^²
deoxyribonuclease (apurinic or apyrimidinic) ^²
multifunctional DNA repair enzyme ^²
redox factor 1 ^²

External Ids
HGNC: 587¹
Entrez Gene: 328²
UniProtKB: P27695³
Ensembl: ENSG00000100823⁷

Search outside databases for aliases for APEX1 gene

Previous GC identifers: GC14P018294 GC14P014710 GC14P018913

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

EntrezGene summary for APEX1:

Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by

DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are

pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to

identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone

5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice

variants have been found for this gene; all encode the same protein. [provided by RefSeq]

UniProtKB/Swiss-Prot: APEX1_HUMAN, P27695

Function: Repairs oxidative DNA damages in vitro. May have a role in protection against cell

lethality and suppression of mutations. Removes the blocking groups from the 3'-termini of the DNA

strand breaks generated by ionizing radiations and bleomycin

Gene Wiki entry for APEX1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the APEX1 gene

Entrez Gene cytogenetic band: 14q11.2-q12 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2

APEX1 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 14 GeneLoc Exon Structure

GeneLoc location for GC14P019993: (about GC identifiers)

Start:	19,993,130 bp from pter
End:	19,995,766 bp from pter
Size:	2,637 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000014.7 NT_026437.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: APEX1_HUMAN, P27695 (See protein sequence)

Recommended Name: DNA-(apurinic or apyrimidinic site) lyase

Size: 318 amino acids; 35555 Da

Subunit: Monomer. Component of the SET complex, which also contains SET, ANP32A, HMGB2 and NME1

Subcellular location: Nucleus

PDB structures from and Proteopedia :

1BIX (3D)

1CQG (3D)

1CQH (3D)

1DE8 (3D)

1DE9 (3D)

1DEW (3D)

1E9N (3D)

1HD7 (3D)

2ISI (3D)

2O3H (3D)

Secondary accessions: Q969L5 Q99775

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001632.2 NP_542379.1 NP_542380.1

ENSEMBL proteins:

ENSP00000381111 ENSP00000216714

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (APE1)
	Human Recombinant Proteins from Abnova (APEX1)

OriGene Purified Recombinant Human Proteins (see all 2): APEX1

5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	IDA	9119221
GO:0005654	nucleoplasm	EXP	9207062 10559261 11250913
GO:0005737	cytoplasm	IEA	--
GO:0005783	endoplasmic reticulum	TAS	12524539

About this table

Antibodies for APEX1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibody Arrays and Antibodies for APEX1
	R&D Systems Antibodies for APEX1 (APE)
	Cell Signaling Technology (CST) Antibodies for APEX1 (Ape1)
	Antibodies from Abcam (APE1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (APEX1)
	Novus Biologicals Antibodies for APEX1

Assays for APEX1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	R&D Systems ELISAs for APEX1 (APE) (see all)
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry P27695

ProtoNet protein and cluster: P27695

1 Blocks protein family: IPB000097 AP endonuclease

UniProtKB/Swiss-Prot: APEX1_HUMAN, P27695

Similarity: Belongs to the DNA repair enzymes AP/exoA family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (APEX1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (APEX1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_080648

Applied Biosystems Silencer® siRNAs for APEX1

Sigma-Aldrich siRNA and siRNA Panels for APEX1

Sigma-Aldrich shRNA Panels and shRNA for APEX1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for APEX1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001641
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001641
untagged cDNA clones in CMV expression vector (see all 4): NM_001641

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_080648

UniProtKB/Swiss-Prot: APEX1_HUMAN, P27695

Function: Repairs oxidative DNA damages in vitro. May have a role in protection against cell

lethality and suppression of mutations. Removes the blocking groups from the 3'-termini of the DNA

strand breaks generated by ionizing radiations and bleomycin

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

Enzyme Number (IUBMB): EC 4.2.99.18

12 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Apex1):

	cellular	embryogenesis	endocrine/exocrine gland	growth/size
homeostasis/metabolism	immune system	lethality-prenatal/perinatal	liver/biliary system	normal
reproductive system	tumorigenesis

5/13 Gene Ontology (GO) molecular function terms (links to tree view) (see all 13 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IEA	--
GO:0003677	DNA binding	IDA	11286553
GO:0003713	transcription coactivator activity	IDA	9119221
GO:0003714	transcription corepressor activity	TAS	7961715
GO:0003906	DNA-(apurinic or apyrimidinic site) lyase activity	TAS	9119221

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Sigma-Aldrich "Your Favorite Gene" Pathways for APEX1 (Your Favorite Gene powered by Ingenuity)

Inositol Metabolism
HIF1&alpha

GeneDecks APEX1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for APEX1

5/65 Interacting proteins for APEX1 (ENSP00000216714³ P27695²) via UniProtKB, MINT, and/or STRING (see all 65 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENSG00000204388	P08107²	STRING (score=.873) MINT-16427 MINT-16428
ENSG00000212866	P08107²	MINT-16427 MINT-16428
ENSG00000215292	P08107²	MINT-16427 MINT-16428
HSPA1A	P08107²	MINT-16427 MINT-16428
HSPA1B	P08107²	MINT-16427 MINT-16428

About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006284	base-excision repair	TAS	11286553
GO:0006366	transcription from RNA polymerase II promoter	TAS	1380454
GO:0006974	response to DNA damage stimulus	IEA	--
GO:0045454	cell redox homeostasis	IEA	--
GO:0051101	regulation of DNA binding	IDA	9119221

About this table

(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

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for APEX1
10/53 Novoseek chemical compound relationships for APEX1 gene (see all 53 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
8-oxoguanine	76.86	9	11937636 (1), 16051529 (1), 15541770 (1), 18053222 (1) (see all 8)
deoxyribose-5-phosphate	69.85	1	9207062 (1)
3,n(4)-ethenocytosine	68.34	2	11506820 (1), 12161446 (1)
phosphoglycolate	67.79	2	7516064 (1), 9171104 (1)
2-deoxyribonolactone	63.82	3	16623699 (1), 16199212 (1)
phosphodiester	63.13	17	11356334 (1), 11554453 (1), 9870152 (1), 11452037 (1) (see all 12)
dihydrothymine	60.52	3	11781104 (2)
1,n6-ethenoadenine	56.21	3	17018265 (2)
thymine glycol	56.19	1	12519758 (1)
deoxyribose	50.94	6	12531388 (1), 9786884 (1), 9351835 (1), 9255583 (1)

About this table

2 PharmGKB drug compound relationships for APEX1 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
mercaptopurine	PD FA GN	12704389
methotrexate	PD FA GN	12704389

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (APEX1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (APEX1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_080648

Sigma-Aldrich siRNA and siRNA Panels for APEX1

Sigma-Aldrich shRNA Panels and shRNA for APEX1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001641 NM_080648 NM_080649

REFSEQ mRNAs for APEX1 gene (3 alternative transcripts):

NM_001641.2 NM_080648.1 NM_080649.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001641 NM_080648 NM_080649

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001641
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001641
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_001641

Additional cDNA sequence:

AK098588.1 AK291100.1 AK311548.1 BC002338.2 BC004979.1 BC008145.1 BC019291.1 BC095428.1

BT007236.1 BT020133.1 BX161454.1 CR593576.1 CR594100.1 CR594913.1 CR595578.1 CR597601.1

CR599111.1 CR603451.1 CR603476.1 CR603764.1 CR605079.1 CR605968.1 CR607088.1 CR608824.1

CR609502.1 CR610342.1 CR611116.1 CR611978.1 CR613058.1 CR617692.1 CR618727.1 CR620565.1

CR622630.1 CR623328.1 D90373.1 M80261.1 M81955.1 S43127.1 U79268.1 X59764.1

24/43 DOTS entries (see all 43 ):

DT.450716 DT.91865427 DT.97860983 DT.97860985 DT.95340211 DT.100045339 DT.100892368 DT.100840911

DT.100892357 DT.120732604 DT.117122 DT.100892372 DT.92466528 DT.102837774 DT.100892382 DT.100892402

DT.100892406 DT.120732702 DT.120733136 DT.100763085 DT.120733139 DT.95310093 DT.100807403 DT.100808976

24/942 AceView cDNA sequences (see all 942 ):

CA442481 CR603451 BX429855 CA412406 CR623328 BP870943 BI222572 CR599111

AA953594 CA411879 CB132219 BM473099 CR605968 BM826276 BF795532 BX457931

AU118092 CR594100 BM549495 AI350082 BM983568 BG742525 CR618727 AA358801

highest scoring ESTs for APEX1:

M80261 AA062585 AA093922 AA112289 AA127552 AA127553 AA171942 AA279390 AA283323 AA301314

Unigene Cluster for APEX1:

APEX nuclease (multifunctional DNA repair enzyme) 1

Hs.73722 [show with all ESTs]

Unigene Representative Sequence: CR611116

GeneLoc Exon Structure

5/19 Alternative Splicing Database (ASD) splice patterns (SP) for APEX1 (see all 19 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	·	2c	·	2d	·	2e	·	2f	·	2g	·	2h	^	3a	·	3b	·	3c	·	3d	^	4	^	5	^	6	^	7a	·	7b	·	7c	·	7d	^	8	^	9a	·	9b	·
SP1:																			-		-		-		-		-				-		-
SP2:									-		-		-		-		-		-		-		-		-		-				-		-
SP3:																					-		-		-		-				-		-
SP4:																					-		-		-		-				-		-														-
SP5:																	-		-		-		-		-		-				-		-

ExUns:	9c	·	9d	·	9e	·	9f	·	9g	·	9h
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for APEX1

2 Ensembl transcripts including schematic representations:

ENST00000398030 ENST00000216714

(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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

APEX1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for APEX1

¹ / ² / ³

3 probe-sets matching APEX1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
2025_s_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	M80261	1.00	1.00	1.00	1
210027_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M80261	1.00	1.00	1.00	1
210027_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AAAATAAAGA

SOURCE GeneReport for Unigene cluster: Hs.73722
Expression variation in blood from EXPOLDB for APEX1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for APEX1 gene from 5/14 species (see all 14 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	APEX1¹	--	APEX nuclease (multifunctional DNA repair enzyme) 1	86.48(n) 95.28(a)	482558 XM_539675.2 XP_539675.1
chimpanzee (Pan troglodytes)	APEX1¹	--	APEX nuclease (multifunctional DNA repair enzyme) 1	99.69(n) 99.69(a)	465200 XM_001139411.1 XP_001139411.1
cow (Bos taurus)	APEX1¹	--	APEX nuclease (multifunctional DNA repair enzyme) 1	89.1(n) 93.4(a)	281630 NM_176609.2 NP_788782.1
rat (Rattus norvegicus)	Apex1¹	--	APEX nuclease (multifunctional DNA repair enzyme) 1	86.44(n) 93.69(a)	79116 NM_024148.1 NP_077062.1
mouse (Mus musculus)	Apex1^{1, 5}	14 (18.50 cM)⁵	apurinic/apyrimidinic endonuclease 1^{1, 5}	86.54(n)¹ 94.64(a)¹	11792¹ NM_009687.1¹ NP_033817.1¹ AK013296⁵ AK180111⁵ (see all 10)

About this table Species with no ortholog for APEX1

ENSEMBL Gene Tree for APEX1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for APEX1 gene

APEX2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

2 NCBI SNPs in APEX1 are shown
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (only AB snps)

AB	SNP ID	Valid	Chr 14 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs33956927^1,2	C	19995271(-)	`TTCCCC/TGAAGC`	3	G/R	mis¹		1		NA	74
--	rs61757710^1,2	--	19995249(+)	`TTCACA/GCCACA`	3	T/T	syn¹		0	--	--	--	--

About this table
The following additional 53 SNP(s) have been found in Applied Biosystems data source:

(Click for Applied Biosystems TaqMan ® Genotyping Assay)

rs1878703	rs2307489	rs7141182	rs938881	rs2307490	rs1803120	rs41561214
rs34632023	rs2275006	rs4429194	rs2307488	rs1130409	rs17883126	rs11160711
rs17880503	rs35175606	rs3120063	rs1065749	rs3120073	rs883037	rs3136819
rs2307485	rs35567022	rs3120071	rs36219113	rs28391546	rs3136818	rs1048945
rs1713459	rs938883	rs2307486	rs3120064	rs1320150	rs7140314	rs2275007
rs1803118	rs12891271	rs4748	rs999692	rs7160712	rs2275008	rs938885
rs1760941	rs17111837	rs11626277	rs938882	rs1713460	rs1713461	rs4465523
rs1629478	rs1760942	rs1713462	rs1760943

HapMap Linkage Disequilibrium images for APEX1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 107748

10/53 Novoseek disease relationships for APEX1 gene (see all 53 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cystic fibrosis	64.63	48	10796748 (4), 7800431 (2), 12917899 (2), 10959912 (2) (see all 36)
lung diseases	35.32	8	12023366 (2), 12917899 (1), 8680379 (1), 16236891 (1) (see all 7)
atelectasis	29.90	1	11716180 (1)
cancer	27.59	34	18627350 (4), 19072053 (2), 11316543 (2), 19035302 (1) (see all 14)
xeroderma pigmentosum	15.10	2	7775413 (1), 18946634 (1)
diphtheria	11.53	4	2109323 (1), 9783263 (1), 15680246 (1), 2318891 (1)
tumors	8.97	47	18809583 (3), 18535621 (3), 16823850 (2), 11420300 (2) (see all 24)
amyotrophic lateral sclerosis	8.91	2	9507962 (1)
empyema	8.41	5	16778278 (2), 10858409 (2), 12668806 (1)
colon cancer	6.48	2	18535621 (1), 8065332 (1)

About this table

1 PharmGKB disease relationship for APEX1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	PD FA GN	12704389

About this table

Human Gene Mutation Database: APEX1
Genetic Association Database: APEX1
Human Genome Epidemiology Navigator: APEX1 (80 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/522 PubMed articles for APEX1 gene (see all 522 ):

cDNA cloning, sequencing, expression and possible domain structure of human APEX nuclease homologous to Escherichia coli exonuclease III. (PubMed id 1627644)^{1, 3, 4} Seki S.... Tsutsui K. (1992)
DNA-bound structures and mutants reveal abasic DNA binding by APE1 and DNA repair coordination. (PubMed id 10667800)^{1, 3, 4} Mol C.D.... Tainer J.A. (2000)
Asparagine 212 is essential for abasic site recognition by the human DNA repair endonuclease HAP1. (PubMed id 8932375)^{1, 3, 4} Rothwell D.G. and Hickson I.D. (1996)
Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 14q11.2-12). (PubMed id 1284593)^{1, 3, 4} Harrison L.... Demple B. (1992)
Isolation of cDNA clones encoding a human apurinic/apyrimidinic endonuclease that corrects DNA repair and mutagenesis defects in E. coli xth (exonuclease III) mutants. (PubMed id 1719477)^{1, 3, 4} Robson C.N. and Hickson I.D. (1991)
Genetic polymorphisms in XRCC1, APE1, ADPRT, XRCC2, and XRCC3 and risk of chronic benzene poisoning in a Chinese occupational population. (PubMed id 16284386)^{1, 3, 6} Zhang Z....Xia Z. (2005)
[Study on significance of single nucleotide polymorphisms in the redox domain of aprimidinic/apurinic endonuclease/redox factor-1 gene in Chinese sporadic colorectal cancer] (PubMed id 14767913)^{1, 3, 6} Tang X.B....Liu J. (2004)
Association between polymorphisms in the DNA repair genes, XRCC1, APE1, and XPD and acute side effects of radiotherapy in breast cancer patients. (PubMed id 16000577)^{1, 3, 6} Chang-Claude J....Ambrosone C.B. (2005)
Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer. (PubMed id 15333465)^{1, 3, 6} Popanda O....Schmezer P. (2004)
Cleaving the oxidative repair protein Ape1 enhances cell death mediated by granzyme A. (PubMed id 12524539)^{1, 3, 4} Fan Z.... Lieberman J. (2003)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 328	HGNC: 587	AceView: APEX1	Ensembl:ENSG00000100823	euGenes: HUgn328
ECgene: APEX1	H-InvDB: APEX1

(According to HUGE)
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(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

Name	Description
ATLAS Chromosomes in Cancer entry for APEX1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/apex/

Licensable Technologies for APEX1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for APEX1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for APEX1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for APEX1		Antibodies for APEX1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for APEX1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (APEX1)
	Antibodies (APEX1)
	Chimera RNAi (APEX1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for APEX1 (Ape1)

	Recombinant Proteins (APE1)
	Antibodies (APE1)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for APEX1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for APEX1

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Random Gene From GIFtS :

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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APEX1 Gene at Home site.
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APEX1 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for APEX1

Summaries
for APEX1

Genomic Location
for APEX1

Proteins
for APEX1

Protein Domains/
Families
for APEX1

Gene Function
for APEX1

Pathways & Interactions
for APEX1

Drugs & Compounds
for APEX1

Transcripts
for APEX1

Expression
for APEX1

Orthologs
for APEX1

Paralogs
for APEX1

SNPs/Variants
for APEX1

Disorders & Mutations
for APEX1

Medical News
for APEX1

Publications
for APEX1

Search for APEX1

Genome Databases showing APEX1

Other Databases showing APEX1

Specialized Databases showing APEX1

Licensable Technologies
for APEX1

Services
for APEX1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

APEX1 (Gene Symbol)
APE
APE-1
APE1
APEN
APEX
APX
EC 4.2.99.18
HAP1
OTTHUMP00000163988
REF-1
REF1
AP endonuclease 1
AP endonuclease class I
AP lyase
APEX nuclease
APEX nuclease (multifunctional DNA repair enzyme)
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease 1
Apurinic-apyrimidinic endonuclease 1
DNA-(apurinic or apyrimidinic site) lyase
Protein REF-1
apurinic/apyrimidinic (abasic) endonuclease
apurinic/apyrimidinic exonuclease
deoxyribonuclease (apurinic or apyrimidinic)
multifunctional DNA repair enzyme
redox factor 1

APEX1 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor APEX1

Summariesfor APEX1

Genomic Locationfor APEX1

Proteinsfor APEX1

Protein Domains/Familiesfor APEX1

Gene Functionfor APEX1

Pathways & Interactionsfor APEX1

Drugs & Compoundsfor APEX1

Transcriptsfor APEX1

Expression for APEX1

Orthologsfor APEX1

Paralogsfor APEX1

SNPs/Variantsfor APEX1

Disorders & Mutationsfor APEX1

Medical Newsfor APEX1

Publicationsfor APEX1

Search for APEX1

Genome Databases showing APEX1

Other Databases showing APEX1

Specialized Databases showing APEX1

Licensable Technologiesfor APEX1

Servicesfor APEX1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for APEX1

Summaries
for APEX1

Genomic Location
for APEX1

Proteins
for APEX1

Protein Domains/
Families
for APEX1

Gene Function
for APEX1

Pathways & Interactions
for APEX1

Drugs & Compounds
for APEX1

Transcripts
for APEX1

Expression
for APEX1

Orthologs
for APEX1

Paralogs
for APEX1

SNPs/Variants
for APEX1

Disorders & Mutations
for APEX1

Medical News
for APEX1

Publications
for APEX1

Licensable Technologies
for APEX1

Services
for APEX1