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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ERCC5 Gene

protein-coding GIFtS: 67
GCID: GC13P103497

Excision Repair Cross-Complementing Rodent Repair Deficiency,...

(Previous names: xeroderma pigmentosum, complementation group G)
(Previous symbols: ERCM2, XPGC)

55 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
Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 5¹ ²		Cockayne Syndrome¹
ERCM2¹ ² ³		UVDR²
XPGC¹ ² ³		DNA Repair Protein Complementing XP-G Cells²
XPG² ³ ⁵		XPG-Complementing Protein²
Xeroderma Pigmentosum, Complementation Group G¹ ²		EC 3.1.-.-³
DNA Excision Repair Protein ERCC-5² ³		Xeroderma Pigmentosum Group G-Complementing Protein³
COFS3² ⁵

External Ids:	HGNC: 3437¹	Entrez Gene: 2073²	Ensembl: ENSG00000134899⁷	OMIM: 133530⁵	UniProtKB: P28715³

Export aliases for ERCC5 gene to outside databases

Previous GC identifers: GC13P101858 GC13P097885 GC13P102334 GC13P101196 GC13P102296 GC13P084090 GC13P103459

(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 ERCC5 Gene:

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair

following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase

II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum

complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder

characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following

UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects,

mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring

upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for ERCC5 Gene:

ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) is a protein-coding gene. Diseases associated with ERCC5 include xeroderma pigmentosum, group g, and xanthogranulomatous pyelonephritis, and among its related super-pathways are Global Genomic NER (GG-NER) and Nucleotide Excision Repair. GO annotations related to this gene include protein homodimerization activity and protein N-terminus binding. An important paralog of this gene is BIVM-ERCC5.

UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715

Function: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the

3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes

oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in

transcription by RNA polymerase II, and perhaps in other processes too

Gene Wiki entry for ERCC5 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_000013.10 NT_009952.14 NC_018924.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ERCC5 gene promoter:
Nkx3-1 C/EBPbeta Nkx3-1 v4 p53 Nkx3-1 v1 HNF-1A AREB6 Nkx3-1 v2 HNF-1 Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ERCC5 promoter sequence

Search SABiosciences Chromatin IP Primers for ERCC5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERCC5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q33 Ensembl cytogenetic band: 13q33.1 HGNC cytogenetic band: 13q22-q34

ERCC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC5 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13P103497: view genomic region (about GC identifiers)

Start:	103,497,194 bp from pter	End:	103,528,351 bp from pter
Size:	31,158 bases	Orientation:	plus 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: ERCC5_HUMAN, P28715 (See protein sequence)

Recommended Name: DNA repair protein complementing XP-G cells

Size: 1186 amino acids; 133108 Da

Cofactor: Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme.

May bind an additional third magnesium ion after substrate binding (By similarity)

Subunit: Interacts with PCNA

Subcellular location: Nucleus

Secondary accessions: A6NGT4 Q5JUS4 Q5JUS5 Q7Z2V3 Q8IZL6 Q8N1B7 Q9HD59

Alternative splicing: 2 isoforms: P28715-1 P28715-2

Explore the universe of human proteins at neXtProt for ERCC5: NX_P28715

Explore proteomics data for ERCC5 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P28715

ERCC5 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_000114.2

ENSEMBL proteins:

ENSP00000347978 ENSP00000436083 ENSP00000365121 ENSP00000442117

Reactome Protein details: P28715
Human Recombinant Protein Products for ERCC5:

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	Novus Biologicals ERCC5 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	8710877
GO:0005654	nucleoplasm	TAS	--
GO:0005675	colocalizes with holo TFIIH complex	IDA	11259578
GO:0016591	colocalizes with DNA-directed RNA polymerase II, holoenzyme	IDA	16246722

ERCC5 for ontologies About GeneDecksing

ERCC5 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ERCC5
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	Novus Biologicals ERCC5 Antibodies
	Abcam antibodies for ERCC5
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Assay Products for ERCC5:

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	GenScript Custom Assay Services for ERCC5
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

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

5/7 InterPro protein domains (see all 7):

IPR006084 XPG/Rad2

IPR006086 XPG-I_dom

IPR006085 XPG_DNA_repair_N

IPR001044 XPG/Rad2_eukaryotes

IPR019974 XPG_CS

Graphical View of Domain Structure for InterPro Entry P28715

ProtoNet protein and cluster: P28715

3 Blocks protein domains:

IPB001044 Xeroderma pigmentosum group G protein signature

IPB006084 Xeroderma pigmentosum group G/yeast RAD superfamily signature

IPB008918 Helix-hairpin-helix motif

UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715

Similarity: Belongs to the XPG/RAD2 endonuclease family. XPG subfamily

ERCC5 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: ERCC5_HUMAN, P28715

Function: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the

3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes

oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in

transcription by RNA polymerase II, and perhaps in other processes too

Genatlas biochemistry entry for ERCC5:

excision repair cross-complementing rodent repair defect in CHO cells,complementation group 5,yeast RAD2 homolog

(see XPG),deleted in metastatic prostate carcinomas

Enzyme Number (IUBMB): EC 3.1.-.-¹

Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000405	bubble DNA binding	IDA	16246722
GO:0003677	DNA binding	--	--
GO:0003690	double-stranded DNA binding	IDA	12644470
GO:0003697	single-stranded DNA binding	IDA	12644470
GO:0003824	catalytic activity	--	--

ERCC5 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ERCC5:

Increased cell death HMECs cel

8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Ercc5):

digestive/alimentary	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	liver/biliary system	mortality/aging

ERCC5 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for ERCC5: Ercc5^tm3Shm Ercc5^tm1Shm Ercc5^tm2Shm

inGenious Targeting Laboratory - Custom generated mouse model solutions for ERCC5

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ERCC5

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERCC5

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERCC5

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERCC5
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate ERCC5:
		hsa-miR-590-3p hsa-miR-664
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for ERCC5
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ERCC5
			Sirion Biotech Customized adenovirus for overexpression of ERCC5

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for ERCC5 (see all 8) OriGene ORF clones in mouse, rat for ERCC5 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ERCC5 (NM_000123)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC5
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC5
		Sirion Biotech Customized lentivirus for stable overexpression of ERCC5 Customized lentivirus expression plasmids for stable overexpression of ERCC5

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ERCC5
		Search LifeMap BioReagents cell lines for ERCC5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC5

(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 ERCC5 About

See pathways by source

SuperPath

Contained pathways About

Global Genomic NER (GG-NER)

Global Genomic NER (GG-NER)	0.70	Formation of incision complex in GG-NER	0.61
Nucleotide excision repair	0.70	Nucleotide Excision Repair Pathway	0.49
Dual incision reaction in GG-NER	0.61

Nucleotide Excision Repair

	Nucleotide Excision Repair	0.90			DNA Repair	0.46
	Transcription-coupled NER (TC-NER)	0.90

Formation of RNA Pol II elongation complex

Dual incision reaction in TC-NER

0.64

Formation of transcription-coupled NER (TC-NER) repair complex

0.64

Chks in Checkpoint Regulation

DNA Repair Mechanisms

0.32

Pathways by source See SuperPaths
Show all pathways

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ERCC5

	DNA Repair Mechanisms
	Nucleotide Excision Repair Pathway

5/8 Reactome Pathways for ERCC5 (see all 8)

	DNA Repair
	Transcription-coupled NER (TC-NER)
	Formation of transcription-coupled NER (TC-NER) repair complex
	Dual incision reaction in TC-NER
	Global Genomic NER (GG-NER)

1 Kegg Pathway (Kegg details for ERCC5):

Nucleotide excision repair

ERCC5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ERCC5

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

59/64 Interacting proteins for ERCC5 (P28715^{2, 3} ENSP00000347978⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 64) (see top 5)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GTF2H4	Q92759³, ENSP00000259895⁴	I2D: score=2 STRING: ENSP00000259895
ENSG00000221974	Q92759³	I2D: score=2
ENSG00000226384	Q92759³	I2D: score=2
ENSG00000233149	Q92759³	I2D: score=2
ENSG00000234370	Q92759³	I2D: score=2
ENSG00000236895	Q92759³	I2D: score=2
EWSR1	Q01844²^,³, ENSP00000381031⁴	MINT-2858666 I2D: score=2 STRING: ENSP00000381031
ERCC2	P18074³, ENSP00000375809⁴	I2D: score=4 STRING: ENSP00000375809
ERCC3	P19447³, ENSP00000285398⁴	I2D: score=3 STRING: ENSP00000285398
NTHL1	P78549³, ENSP00000219066⁴	I2D: score=3 STRING: ENSP00000219066
PCNA	P12004³, ENSP00000368438⁴	I2D: score=3 STRING: ENSP00000368438
GTF2H1	P32780³, ENSP00000265963⁴	I2D: score=2 STRING: ENSP00000265963
CDK7	P50613³, ENSP00000256443⁴	I2D: score=1 STRING: ENSP00000256443
ERCC6	Q03468³, ENSP00000348089⁴	I2D: score=1 STRING: ENSP00000348089
FEN1	P39748³, ENSP00000305480⁴	I2D: score=1 STRING: ENSP00000305480
GTF2H2C	Q6P1K8³	I2D: score=1
GTF2H2D	Q6P1K8³	I2D: score=1
MSH2	P43246³, ENSP00000233146⁴	I2D: score=1 STRING: ENSP00000233146
POLR2A	P24928³, ENSP00000314949⁴	I2D: score=2 STRING: ENSP00000314949
BCL6	P41182³, ENSP00000232014⁴	I2D: score=3 STRING: ENSP00000232014
TAF10	Q12962³, ENSP00000299424⁴	I2D: score=1 STRING: ENSP00000299424
ERCC4	Q92889³, ENSP00000310520⁴	I2D: score=1 STRING: ENSP00000310520
MAPK6	Q16659³	I2D: score=2
EIF3A	Q14152³	I2D: score=1
HSP90AA1	P07900³	I2D: score=1
OSBP2	Q969R2³	I2D: score=1
PDIA4	P13667³	I2D: score=1
SLC10A7	Q0GE19³	I2D: score=1
SQSTM1	Q13501³	I2D: score=1
TCEA1	P23193³	I2D: score=1
UBE2A	P49459³	I2D: score=1
CCNH	ENSP00000256897⁴	STRING: ENSP00000256897
DDB1	ENSP00000301764⁴	STRING: ENSP00000301764
DDB2	ENSP00000256996⁴	STRING: ENSP00000256996
ERCC8	ENSP00000265038⁴	STRING: ENSP00000265038
GTF2H3	ENSP00000228955⁴	STRING: ENSP00000228955
MNAT1	ENSP00000261245⁴	STRING: ENSP00000261245
POLR2B	ENSP00000312735⁴	STRING: ENSP00000312735
POLR2G	ENSP00000301788⁴	STRING: ENSP00000301788
POLR2I	ENSP00000221859⁴	STRING: ENSP00000221859
POLR2L	ENSP00000324124⁴	STRING: ENSP00000324124
RAD23B	ENSP00000350708⁴	STRING: ENSP00000350708
RPA3	ENSP00000223129⁴	STRING: ENSP00000223129
XAB2	ENSP00000351137⁴	STRING: ENSP00000351137
XPA	ENSP00000364270⁴	STRING: ENSP00000364270
XPC	ENSP00000285021⁴	STRING: ENSP00000285021
POLR2C	ENSP00000219252⁴	STRING: ENSP00000219252
POLR2D	ENSP00000272645⁴	STRING: ENSP00000272645
POLR2E	ENSP00000215587⁴	STRING: ENSP00000215587
POLR2F	ENSP00000403852⁴	STRING: ENSP00000403852
POLR2H	ENSP00000296223⁴	STRING: ENSP00000296223
GTF2H2	ENSP00000274400⁴	STRING: ENSP00000274400
PIDD	ENSP00000337797⁴	STRING: ENSP00000337797
SUMO2	ENSP00000405965⁴	STRING: ENSP00000405965
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
MRE11A	ENSP00000325863⁴	STRING: ENSP00000325863
ERCC1	ENSP00000013807⁴	STRING: ENSP00000013807
SMC2	ENSP00000286398⁴	STRING: ENSP00000286398
PMS2	ENSP00000265849⁴	STRING: ENSP00000265849

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000718	nucleotide-excision repair, DNA damage removal	TAS	--
GO:0006281	DNA repair	TAS	--
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	--
GO:0006289	nucleotide-excision repair	TAS	--
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	IMP	7657672

ERCC5 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

ERCC5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ERCC5

8 Novoseek inferred chemical compound relationships for ERCC5 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
thymine glycol	77.2	11	10766805 (2), 9927729 (2), 11554293 (1)
irofulven	67.3	3	15328203 (3)
ecteinascidin 743	57.1	4	11479630 (2), 15328203 (1)
cisplatin	29.7	2	15328203 (1), 16849332 (1)
phosphodiester	25.2	2	9188507 (1)
oligonucleotide	0	1	8090225 (1)
atp	0	3	9618470 (1), 11141066 (1), 16246722 (1)
histidine	0	2	10517877 (1), 11228268 (1)

Search CenterWatch for drugs/clinical trials and news about ERCC5

(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 ERCC5 gene:

NM_000123.3

Unigene Cluster for ERCC5:

Excision repair cross-complementing rodent repair deficiency, complementation group 5

Hs.258429 [show with all ESTs]

Unigene Representative Sequence: NM_001204425

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

ENST00000355739(uc001vpu.2 uc010tjb.2 uc001vpw.3 uc010tjc.1 uc010tjd.1)

ENST00000472151 ENST00000375958 ENST00000375954 ENST00000481099 ENST00000472247

ENST00000535557

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		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for ERCC5
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERCC5

Clone Products:		OriGene clones in human, mouse for ERCC5 (see all 8) OriGene ORF clones in mouse, rat for ERCC5 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ERCC5 (NM_000123)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC5
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC5
		Sirion Biotech Customized lentivirus for stable overexpression of ERCC5 Customized lentivirus expression plasmids for stable overexpression of ERCC5

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERCC5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERCC5

Additional mRNA sequence:

AF462447.1 AK294708.1 AK299758.1 BC031522.2 BX647399.1 D16305.1 L20046.1 X69978.1

11 DOTS entries:

DT.117699 DT.100684017 DT.40284853 DT.92431332 DT.117701 DT.86843311 DT.120788615 DT.95335234

DT.95374634 DT.100711460 DT.91698693

9 AceView cDNA sequences:

AW574626 BQ707436 BQ067419 AW404132 AA708523 AA708780 BF908784 AA161242

AA521132

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ERCC5 (see all 7) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	·	3c	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17
SP1:									-		-								-								-										-
SP2:							-				-
SP3:																			-
SP4:
SP5:									-		-

ECgene alternative splicing isoforms for ERCC5

(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

ERCC5 expression in normal human tissues (normalized intensities) ERCC5 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CGGTGGATTT

About this image

ERCC5 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/3 selected tissues (see all 3) fully expand


Blood (Hematopoietic System) fully expand to see all 3 entries
b cells

Heart (Cardiovascular System)
Atrioventricular Node Cells Atrioventricular Node

Umbilical Cord (Extraembryonic Tissues)
stem cells (umbilical cord cd34+)

See ERCC5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ERCC5

SOURCE GeneReport for Unigene cluster: Hs.258429

SABiosciences Expression via Pathway-Focused PCR Arrays including ERCC5:

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(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 animals and fungi.

Orthologs for ERCC5 gene from 8/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ercc5^{1 , 5}	excision repair cross-complementing rodent repair deficiency, more^{1, 5}	75.75(n)¹ 69.72(a)¹		1 (23.55 cM)⁵ 22592¹ NM_011729.2¹ NP_035859.2¹ 44147847⁵
chicken (Gallus gallus)	Aves	ERCC5¹	excision repair cross-complementing rodent repair deficiency, more	63.64(n) 59.43(a)		428019 NM_001034823.1 NP_001029995.1
lizard (Anolis carolinensis)	Reptilia	--	--	55(a)	1 → many	3(101065875-101099416)
African clawed frog (Xenopus laevis)	Amphibia	XPGC²	XP-G related factor	75.14(n)		X69977.1
zebrafish (Danio rerio)	Actinopterygii	ercc5¹	excision repair cross-complementing rodent repair deficiency, more	53.92(n) 51.63(a)		541502 XM_003197605.1 XP_003197653.1
fruit fly (Drosophila melanogaster)	Insecta	mus201³ Chrac-14¹	base-excision repair single-stranded DNA specific more³ CG13399-PA¹	41(a)³ 46.08(n)¹ 33.62(a)¹		3772329¹ NM_001032059.1¹ NP_001027230.1¹
worm (Caenorhabditis elegans)	Secernentea	gen-1⁶ xpg-1⁶	Protein XPG-1	29(a) 22(a)	many → 1 possible ortholog	III(6245924-6248234) I(6558700-6562392)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RAD2¹	Rad2p	46.28(n) 33.09(a)		853174 NP_011774.1

ENSEMBL Gene Tree for ERCC5 (if available)
TreeFam Gene Tree for ERCC5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ERCC5 gene

BIVM-ERCC5²

1 SIMAP similar gene for ERCC5 using alignment to 4 protein entries: ERCC5_HUMAN (see all proteins):

BIVM-ERCC5

ERCC5 for paralogs About GeneDecksing

(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)
About This Section

SNP ID	Valid	Clinical significance	Chr 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_017097⁴		Xeroderma pigmentosum complementation group G (XP-G)⁴	--	see VAR_017097	2	L P	mis⁴		0	--	--	--	--
VAR_007733⁴		Xeroderma pigmentosum complementation group G (XP-G)⁴	--	see VAR_007733	2	A V	mis⁴		0	--	--	--	--
VAR_015280⁴		Xeroderma pigmentosum complementation group G (XP-G)⁴	--	see VAR_015280	2	P H	mis⁴		0	--	--	--	--
VAR_017096⁴		Xeroderma pigmentosum complementation group G (XP-G)⁴	--	see VAR_017096	2	A T	mis⁴		0	--	--	--	--
rs121434572^1,2	C	pathogenic¹	84441661(+)	`ACATCC/TGAAGG`	2	R *	stg¹		0	--	--	--	--
rs121434576^1,2	C	pathogenic¹	84448237(+)	`TAACCA/GCCATG`	2	T A	mis¹		0	--	--	--	--
VAR_046374⁴		--	--	see VAR_046374	2	G R	mis⁴		0	--	--	--	--
VAR_023125⁴		--	--	see VAR_023125	2	G Q	mis⁴		0	--	--	--	--
VAR_046375⁴		--	--	see VAR_046375	2	G R	mis⁴		0	--	--	--	--
rs35900194^1,2	C	--	84102210(+)	`GTGAA-/TT /TTTCTTTCT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ERCC5 (103497194 - 103528351 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for ERCC5: About this table

Variant ID	Type	Subtype	PubMed ID
esv2661939	CNV	Deletion	23128226
nsv900972	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): ERCC5

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.)
About This Section

OMIM gene information: 133530
OMIM disorders: 278780
UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715

Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]: An autosomal recessive pigmentary skin

disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas

exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other

pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism,

pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma

pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. Note=The disease is caused by mutations

affecting the gene represented in this entry

20/55 diseases for ERCC5 (see all 55): About MalaCards

xeroderma pigmentosum, group g xanthogranulomatous pyelonephritis ercc5-related xeroderma pigmentosum cerebro-oculo-facio-skeletal syndrome

xeroderma pigmentosum xeroderma pigmentosum, group c skin cancer mutagen sensitivity

acoustic neuroma neuroma pigmentary retinopathy breast disease

stomach cancer soft tissue sarcoma werner syndrome follicular lymphoma

dwarfism pyelonephritis diffuse large b-cell lymphoma conjunctivitis

4 diseases from the University of Copenhagen DISEASES database for ERCC5:

Xeroderma pigmentosum Cockayne syndrome Photosensitive trichothiodystrophy Xanthogranulomatous pyelonephritis

ERCC5 for disorders About GeneDecksing

10/12 Novoseek inferred disease relationships for ERCC5 gene (see all 12) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
xeroderma pigmentosum, complementation group g	95.3	7	7951246 (1), 10395909 (1), 17208056 (1), 10766805 (1) (see all 5)
xeroderma pigmentosum	93.9	32	11479630 (2), 11841555 (2), 7510366 (2), 7951246 (1) (see all 24)
cockayne syndrome	93.6	20	9864391 (2), 16246722 (2), 8855246 (1), 16167068 (1) (see all 12)
trichothiodystrophy	82.6	1	11104904 (1)
cofs syndrome	80.3	2	11443545 (1)
genetic disorder	14.6	1	11479630 (1)
cancer lung	13.3	9	12869423 (3), 16550608 (2), 14694596 (1), 19289372 (1)
cancer	11.3	2	12869423 (1), 11479630 (1)
growth retardation	8.47	1	15082767 (1)
tumors	0	4	8703115 (1), 10517877 (1), 15328203 (1), 19157633 (1)

GeneTests: ERCC5
GeneReviews: ERCC5
Genetic Association Database (GAD): ERCC5
Human Genome Epidemiology (HuGE) Navigator: ERCC5 (112 documents)

Export disorders for ERCC5 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)
About This Section

PubMed articles for ERCC5 gene, integrated from 9 sources (see all 271):
(articles sorted by number of sources associating them with ERCC5)

Utopia: connect your pdf to the dynamic
world of online information

The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization. (PubMed id 8088806)^{1, 2, 3} Samec S....Clarkson S.G. (1994)
An ERCC5 gene with homology to yeast RAD2 is involved in group G Xeroderma pigmentosum. (PubMed id 7510366)^{1, 2, 9} Shiomi T.... Yamaizumi M. (1994)
Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe. (PubMed id 8413238)^{1, 2, 9} Macinnes M.A....Yu J.Y. (1993)
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. (PubMed id 11841555)^{1, 2, 9} Lalle P.... Clarkson S.G. (2002)
XPG protein has a structure-specific endonuclease activity. (PubMed id 7651464)^{1, 2, 9} Cloud K.G.... Park M.S. (1995)
Relationship between XPG codon 1104 polymorphism and risk of primary lung cancer. (PubMed id 12869423)^{1, 4, 9} Jeon H.S....Park J.Y. (2003)
Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. (PubMed id 7951246)^{1, 2, 9} Nouspikel T. and Clarkson S.G. (1994)
Single nucleotide polymorphism analysis of the nucleotide excision repair genes XPC, XPA, and XPG in the Indian population. (PubMed id 18478970)^{1, 4, 9} Gowda S....Rao M.R. (2007)
Polymorphisms in the DNA repair genes XPC, XPD, and XPG and risk of cutaneous melanoma: a case-control analysis. (PubMed id 17164380)^{1, 4, 9} Li C....Wei Q. (2006)
The XPG story. (PubMed id 14726017)^{1, 2, 9} Clarkson S.G. (2003)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2073	HGNC: 3437	AceView: ERCC5.1	Ensembl:ENSG00000134899	euGenes: HUgn2073
ECgene: ERCC5	Kegg: 2073	H-InvDB: ERCC5

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ERCC5	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ERCC5	Genetics and Cytogenetics in Oncology and Haematology
Allelic variations of the XP genes	http://www.xpmutations.org/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ERCC5
NIEHS-SNPs	http://egp.gs.washington.edu/data/ercc5/

Intellectual Property for ERCC5 gene
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Patent Information for ERCC5 gene:
Search GeneIP for patents involving ERCC5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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