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Set Analyses:

VarElect

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ERCC5 Gene

protein-coding GIFtS: 68
GCID: GC13P103497

Excision Repair Cross-Complementation Group 5

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

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Excision Repair Cross-Complementation Group 5¹ ²		COFS3² ⁵
ERCM2¹ ² ³		Cockayne Syndrome¹
XPGC¹ ² ³		UVDR²
XPG² ³ ⁵		DNA Repair Protein Complementing XP-G Cells²
Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 5¹ ²		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

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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-complementation group 5) is a protein-coding gene. Diseases associated with ERCC5 include ercc5-related xeroderma pigmentosum, and xanthogranulomatous pyelonephritis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000013.11 NC_018924.2 NT_009952.15

Regulatory elements:

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 Chromatin IP Primers for ERCC5

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

Secondary accessions: A6NGT4 Q5JUS4 Q5JUS5 Q7Z2V3 Q8IZL6 Q8N1B7 Q9HD59 Q9HD60

Alternative splicing: 3 isoforms: P28715-1 P28715-2 P28715-3 (No experimental confirmation available. Includes a cryptic exon found in intron 6)

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

Explore proteomics data for ERCC5 at MOPED

Post-translational modifications:

Ubiquitination² at Lys172, Lys293, Lys298, Lys313, Lys433

Modification sites at PhosphoSitePlus

See ERCC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000114.2

ENSEMBL proteins:

ENSP00000347978 ENSP00000436083 ENSP00000365121 ENSP00000442117

Reactome Protein details: P28715

ERCC5 Human Recombinant Protein Products:

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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for ERCC5 OriGene Protein Over-expression Lysate for ERCC5 OriGene MassSpec for ERCC5 OriGene Custom Protein Services for ERCC5
	GenScript Custom Purified and Recombinant Proteins Services for ERCC5
	Novus Biologicals ERCC5 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

ERCC5 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ERCC5
	Browse R&D Systems for Antibodies
	OriGene Antibodies for ERCC5 OriGene Custom Antibody Services for ERCC5
	Novus Biologicals ERCC5 Antibodies
	Abcam antibodies for ERCC5
	Browse Antibodies at Cloud-Clone Corp.
	ThermoFisher Antibodies for ERCC5
	LSBio Antibodies in human, mouse, rat for ERCC5

ERCC5 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for ERCC5
	Browse R&D Systems for biochemical assays
	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)
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Selected 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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): Selected molecular function terms (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/body	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: Let us create your new Knockout/Knockin mouse model for ERCC5

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:		miRTarBase miRNAs that target ERCC5: hsa-mir-124-3p (MIRT022203)

		Block miRNA regulation of human, mouse, rat ERCC5 using miScript Target Protectors
		2 qRT-PCR Assays for microRNAs that regulate ERCC5:
		hsa-miR-590-3p hsa-miR-664
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ERCC5
		Predesigned siRNA for gene silencing in human, mouse, rat ERCC5

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ERCC5

Clone Products:		OriGene clones in human, mouse for ERCC5 (see all 7) 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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ERCC5
		Browse ESI BIO Cell Lines and PureStem Progenitors for ERCC5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC5

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ERCC5_HUMAN, P28715: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5

About this image

Gene Ontology (GO): Selected cellular component terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005675	colocalizes with holo TFIIH complex	IDA	11259578
GO:0005730	NOT nucleolus	IDA	--
GO:0016591	colocalizes with DNA-directed RNA polymerase II, holoenzyme	IDA	16246722

ERCC5 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for ERCC5 About

See pathways by source

SuperPath

Contained pathways About

Global Genomic NER (GG-NER)

Global Genomic NER (GG-NER)	0.69	Formation of incision complex in GG-NER	0.62
Nucleotide excision repair	0.69	Nucleotide Excision Repair Pathway	0.48
Dual incision reaction in GG-NER	0.62

DNA Repair

Transcription-coupled NER (TC-NER)	0.90	Dual incision reaction in TC-NER	0.65
Nucleotide Excision Repair	0.90	DNA Repair	0.45
Formation of transcription-coupled NER (TC-NER) repair complex	0.65

Chks in Checkpoint Regulation

DNA Repair Mechanisms

0.32

Pathways by source See SuperPaths
Show all pathways

2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ERCC5

	DNA Repair Mechanisms
	Nucleotide Excision Repair Pathway

4 Reactome Pathways for ERCC5

	Formation of transcription-coupled NER (TC-NER) repair complex
	Dual incision reaction in TC-NER
	Formation of incision complex in GG-NER
	Dual incision reaction in GG-NER

1 Kegg Pathway (Kegg details for ERCC5):

Nucleotide excision repair

ERCC5 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including ERCC5:

Cancer PathwayFinder in human mouse rat

DNA Repair in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Interactions:

GeneGlobe Interaction Network for ERCC5

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

Selected Interacting proteins for ERCC5 (P28715^{2, 3} ENSP00000347978⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 213) (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
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
TAF10	Q12962³, ENSP00000299424⁴	I2D: score=1 STRING: ENSP00000299424
UBE2A	P49459³, ENSP00000360613⁴	I2D: score=1 STRING: ENSP00000360613
ERCC3	P19447³, ENSP00000285398⁴	I2D: score=3 STRING: ENSP00000285398
ERCC6	Q03468³, ENSP00000348089⁴	I2D: score=1 STRING: ENSP00000348089
POLR2A	P24928³, ENSP00000314949⁴	I2D: score=2 STRING: ENSP00000314949
FEN1	P39748³, ENSP00000305480⁴	I2D: score=1 STRING: ENSP00000305480
ERCC2	P18074³, ENSP00000375809⁴	I2D: score=4 STRING: ENSP00000375809
MSH2	P43246³, ENSP00000233146⁴	I2D: score=1 STRING: ENSP00000233146
BCL6	P41182³, ENSP00000232014⁴	I2D: score=3 STRING: ENSP00000232014
ERCC4	Q92889³, ENSP00000310520⁴	I2D: score=1 STRING: ENSP00000310520
MAPK6	Q16659³	I2D: score=2
EIF3A	Q14152³	I2D: score=1
GTF2H2C	Q6P1K8³	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
CCNH	ENSP00000256897⁴	STRING: ENSP00000256897
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
XPC	ENSP00000285021⁴	STRING: ENSP00000285021
POLR2D	ENSP00000272645⁴	STRING: ENSP00000272645
POLR2E	ENSP00000215587⁴	STRING: ENSP00000215587
POLR2F	ENSP00000403852⁴	STRING: ENSP00000403852
POLR2H	ENSP00000296223⁴	STRING: ENSP00000296223
MUS81	ENSP00000307853⁴	STRING: ENSP00000307853
GTF2H2	ENSP00000274400⁴	STRING: ENSP00000274400
RAD18	ENSP00000264926⁴	STRING: ENSP00000264926
PIDD	ENSP00000337797⁴	STRING: ENSP00000337797
SETX	ENSP00000224140⁴	STRING: ENSP00000224140
TDP1	ENSP00000337353⁴	STRING: ENSP00000337353
RAD52	ENSP00000351284⁴	STRING: ENSP00000351284
FBXO18	ENSP00000369335⁴	STRING: ENSP00000369335
TP53BP1	ENSP00000371475⁴	STRING: ENSP00000371475
GEN1	ENSP00000318977⁴	STRING: ENSP00000318977
RAD51	ENSP00000267868⁴	STRING: ENSP00000267868
RAD51D	ENSP00000378090⁴	STRING: ENSP00000378090

About this table

Gene Ontology (GO): Selected biological process terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000718	nucleotide-excision repair, DNA damage removal	TAS	--
GO:0000737	DNA catabolic process, endonucleolytic	IDA	12644470
GO:0006281	DNA repair	TAS	--
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	--
GO:0006289	nucleotide-excision repair	TAS	--

ERCC5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

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)

ERCC5 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

miRNA Products:		Block miRNA regulation of human, mouse, rat ERCC5 using miScript Target Protectors
		2 qRT-PCR Assays for microRNAs that regulate ERCC5:
		hsa-miR-590-3p hsa-miR-664
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ERCC5
		Predesigned siRNA for gene silencing in human, mouse, rat ERCC5

Clone Products:		OriGene clones in human, mouse for ERCC5 (see all 7) 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

Primer Products:		OriGene qPCR primer pairs and template standards for ERCC5 OriGene qSTAR qPCR primer pairs in human, mouse for ERCC5
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat ERCC5
		QuantiTect SYBR Green Assays in human, mouse, rat ERCC5
		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:

BQ067419 AW404132 AA708780 BQ707436 AA708523 AW574626 BF908784 AA161242

AA521132

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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
selected tissues (see all 5) fully expand


Heart (Cardiovascular System)
Atrioventricular Node Cells Atrioventricular Node

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Ovary (Reproductive System)
Oviduct

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Brain (Nervous System)
Cerebral Cortex

ERCC5 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ERCC5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.258429

Pathway & Disease-focused RT² Profiler PCR Arrays including ERCC5:

Cancer PathwayFinder in human mouse rat

DNA Repair in human mouse rat

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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)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for ERCC5 gene from Selected species (see all 14) 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}	75.71(n)¹ 70.06(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	64.14(n) 60.62(a)		428019 NM_001034823.1 NP_001029995.1
lizard (Anolis carolinensis)	Reptilia	--	--	56(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	ercc5⁶	excision repair cross-complementing rodent repair ...	47(a)	1 → many	1(348782-368977) ENSDARG00000023678
fruit fly (Drosophila melanogaster)	Insecta	mus201³	base-excision repair single-stranded DNA specific more	41(a)		--
worm (Caenorhabditis elegans)	Secernentea	gen-1⁶ xpg-1⁶	Protein XPG-1 (xpg-1) mRNA, complete cds	27(a) 24(a)	many ↔ many many ↔ many	III(6245924-6248234) WBGene00020442 I(6558700-6562392) WBGene00019004
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RAD2⁶	Single-stranded DNA endonuclease, cleaves single-s...	23(a)	1 → many	VII(1007671-1010766) YGR258C

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)
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Paralogs for ERCC5 gene

BIVM-ERCC5²

1 SIMAP similar gene for ERCC5 using alignment to 3 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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	--	--	--	--
rs28929496^1,2,4		Xeroderma pigmentosum complementation group G (XP-G)⁴	--	see VAR_017096	2		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	--	--	--	--
rs35900194^1,2	C	--	84102210(+)	`GTGAA-/TT /TTTCTTTCT`	1	--	int¹		0	--	--	--	--
rs35055250^1,2	C	--	84102213(+)	`AATTT-/A/AC TT/CTTACTTTT`	1	--	int¹		1		CSA	2
rs67810082^1,2	C	--	84102215(+)	`ATTTC-/CTTA TTTTA`	1	--	int¹		0	--	--	--	--
rs200865372^1,2		--	84102215(+)	`TTTCT-/TACTTTAA`	1	--	cds¹		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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing ERCC5

DNA2.0 Custom Variant and Variant Library Synthesis for ERCC5

(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: 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

Selected diseases for ERCC5 (see all 66): About MalaCards

cockayne syndrome cockayne syndrome type ii cerebro-oculo-facio-skeletal syndrome xeroderma pigmentosum

xeroderma pigmentosum, group c mutagen sensitivity acoustic neuroma neuroma

pyelonephritis richter's syndrome breast disease pigmentary retinopathy

werner syndrome soft tissue sarcoma stomach cancer dwarfism

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

Xeroderma pigmentosum Cockayne syndrome Photosensitive trichothiodystrophy Xanthogranulomatous pyelonephritis

ERCC5 for disorders About GeneDecksing

Selected 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)
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PubMed articles for ERCC5 gene, integrated from 10 sources (see all 279):
(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. (Genomics 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. (Mutat. Res. 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. (Mol. Cell. Biol. 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. (J. Invest. Dermatol. 2002)
XPG protein has a structure-specific endonuclease activity. (PubMed id 7651464)^{1, 2, 9} Cloud K.G.... Park M.S. (Mutat. Res. 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. (Carcinogenesis 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. (Hum. Mol. Genet. 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. (Hum. Biol. 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. (amp 2006)
The XPG story. (PubMed id 14726017)^{1, 2, 9} Clarkson S.G. (Biochimie 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)
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Entrez Gene: 2073	HGNC: 3437	AceView: ERCC5.1	Ensembl:ENSG00000134899	euGenes: HUgn2073
ECgene: ERCC5	Kegg: 2073	H-InvDB: ERCC5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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/books/NBK1116/?term=ERCC5[genesymbol]
NIEHS-SNPs	http://egp.gs.washington.edu/data/ercc5/

Intellectual Property for ERCC5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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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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ERCC5 Gene

Excision Repair Cross-Complementation Group 5

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ERCC5 Gene

Excision Repair Cross-Complementation Group 5

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