ERCC1 Gene
protein-coding GIFtS: 66
GCID: GC19M045912
|
|
excision repair cross-complementing rodent repair deficiency,...
| |
Aliases
for ERCC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Excision Repair Cross-Complementing Rodent Repair Deficiency,Complementation Group 1 (Includes Overlapping Antisense Sequence)1 2 | | RAD101 2 | | COFS42 5 | | UV202 5 | | DNA Excision Repair Protein ERCC-12 |
Export aliases for ERCC1 gene to outside databasesPrevious GC identifers: GC19M046556 GC19M046303 GC19M050586 GC19M050604 GC19M050602 GC19M042340 |
Summaries
for ERCC1 gene(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 ERCC1:
The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNAlesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encodedprotein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonucleasecatalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involvedin recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result incerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role incarcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exonof this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. (provided byRefSeq, Oct 2009)
UniProtKB/Swiss-Prot: ERCC1_HUMAN, P07992Function: Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair
Gene Wiki entry for ERCC1
|
Genomic Views
for ERCC1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ERCC1 gene promoter:
AP-1 ATF-2 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for ERCC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERCC1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.32 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.32ERCC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M045912: view genomic region
(about GC identifiers)
Start:
|
45,910,591 bp from pter |
End:
|
45,982,086 bp from pter |
Size:
|
71,496 bases |
Orientation:
|
minus strand |
|
Proteins
for ERCC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ERCC1_HUMAN, P07992 (See
protein sequence)Recommended Name: DNA excision repair protein ERCC-1 Size: 297 amino acids; 32562 Da
Subunit: Heterodimer composed of ERCC1 and XPF/ERRC4
Subcellular location: Nucleus
5 PDB 3D structures from  and Proteopedia  for ERCC1:1Z00 (3D)
2A1I (3D)
2A1J (3D)
2JNW (3D)
2JPD (3D)
Secondary accessions: Q7Z7F5 Q96S40Alternative splicing: 3 isoforms: P07992-1 P07992-2 P07992-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ERCC1: NX_P07992
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P07992
ERCC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001159521.1 NP_001974.1 NP_973730.1
ENSEMBL proteins: ENSP00000300853 ENSP00000394875 ENSP00000345203 ENSP00000466644 ENSP00000468119 ENSP00000468035 ENSP00000013807 ENSP00000465354 ENSP00000465225 ENSP00000468548 ENSP00000467183 ENSP00000468158 ENSP00000465524 Reactome Protein details: P07992
Human Recombinant Protein Products for ERCC1:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
ERCC1 for ontologies About GeneDecksing
ERCC1 Antibody Products:
Assay Products for ERCC1: |
Protein
Domains /
Families
for ERCC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ERCC1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P07992ProtoNet protein and cluster: P07992 2 Blocks protein families: IPB003583 Helix-hairpin-helix DNA-binding IPB004579 DNA repair protein rad10
UniProtKB/Swiss-Prot: ERCC1_HUMAN, P07992Similarity: Belongs to the ERCC1/RAD10/SWI10 family |
Function
for ERCC1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: ERCC1_HUMAN, P07992Function: Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair Genatlas biochemistry entry for ERCC1:excision repair cross-complementing rodent repair defect in CHO cells (includes overlapping antisensesequence),complementation group 1,yeast RAD10 homolog,specific for leukemic blasts
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
ERCC1 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for ERCC1:
15/17 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Ercc1) (see all 17):
ERCC1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for ERCC1: Ercc1tm1Dwm Ercc1tm1Jhjh
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC1 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC1 (see all 4)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): ERCC1 (NM_001983) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ERCC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC1 |
|
Pathways & Interactions
for ERCC1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Global Genomic NER (GG-NER) | | | 2 | Nucleotide Excision Repair | | | 3 | Formation of RNA Pol II elongation complex | | | 4 | DNA Damage | | | 5 | Cell Cycle / Checkpoint Control | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ERCC1
2 
Cell Signaling Technology (CST) Pathways for ERCC1
5/8 
Reactome Pathways for ERCC1 (see all 8)
1  PharmGKB Pathway for ERCC1
1 
Kegg Pathway (Kegg details for ERCC1):
ERCC1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERCC1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/580 Interacting proteins for ERCC1 (P079921, 2, 3 ENSP000000138074) via UniProtKB, MINT, STRING, and/or I2D (see all 580)About this table
Gene Ontology (GO): 5/33 biological process terms (GO ID links to tree view) (see all 33): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000718 | nucleotide-excision repair, DNA damage removal |
TAS | -- | | GO:0000720 | pyrimidine dimer repair by nucleotide-excision repair |
IEA | -- | | GO:0001302 | replicative cell aging |
IEA | -- | | GO:0006281 | DNA repair |
TAS | -- | | GO:0006283 | transcription-coupled nucleotide-excision repair |
TAS | -- |
ERCC1 for ontologies About GeneDecksing
|
Drugs & Compounds
for ERCC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ERCC1 for compounds About GeneDecksing
 Browse Tocris compounds for ERCC1
10/42 Novoseek chemical compound relationships for ERCC1 gene (see all 42) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cisplatin |
82.4 |
254 |
10810335 (7), 18756932 (6), 19626585 (6), 11163512 (6) (see all 97) |
| oxaliplatin |
77.4 |
30 |
19194123 (3), 18204222 (2), 19105824 (2), 15629453 (1) (see all 15) |
| gemcitabine |
75.3 |
52 |
18494946 (4), 20211060 (3), 19884554 (3), 19667277 (3) (see all 27) |
| thymidylate |
74.8 |
29 |
19051292 (2), 19194123 (2), 18565686 (2), 18507058 (1) (see all 22) |
| irinotecan |
67.6 |
5 |
12749725 (1), 17417781 (1), 18231104 (1), 19457654 (1) (see all 5) |
| n-acetoxy-2-acetylaminofluorene |
67.1 |
1 |
16882524 (1) |
| 5fluorouracil |
62.3 |
27 |
9268987 (4), 18497992 (3), 15655543 (1), 9440758 (1) (see all 17) |
| carboplatin |
59.8 |
18 |
18977553 (3), 19667277 (3), 19884554 (2), 18494946 (2) (see all 11) |
| vinorelbine |
57.2 |
3 |
17417781 (1), 17166391 (1), 20082278 (1) |
| platinum |
57.1 |
41 |
19240185 (6), 18024864 (4), 18575867 (3), 19035454 (2) (see all 9) |
6 PharmGKB related drug/compound annotations for ERCC1 gene About this tableSearch CenterWatch for drugs/clinical trials and news about ERCC1
|
Transcripts
for ERCC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ERCC1 gene (3 alternative transcripts): NM_001166049.1 NM_001983.3 NM_202001.2 Unigene Cluster for ERCC1: Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) Hs.435981 [show with all ESTs]Unigene Representative Sequence: NM_00198317 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000300853(uc002pbs.2) ENST00000423698(uc002pbu.2) ENST00000588738
ENST00000340192(uc002pbt.2) ENST00000590701 ENST00000591636 ENST00000589165
ENST00000013807(uc002pbv.3) ENST00000592410 ENST00000592444 ENST00000587888
ENST00000589381 ENST00000592083 ENST00000592905 ENST00000592023 ENST00000588300
ENST00000589214
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC1 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC1 (see all 4)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): ERCC1 (NM_001983) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ERCC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC1 |
Additional cDNA sequence: AB069681.1 AF001925.1 AF433652.1 AK092039.1 AK314884.1 BC008930.2 BC052813.1 BT019806.1 M13194.1 M28650.1 S94539.1 20 DOTS entries: DT.100792041 DT.99949247 DT.215064 DT.80101937 DT.91686496 DT.121483494 DT.101960319 DT.40114141 DT.95256351 DT.97847780 DT.453132 DT.92444217 DT.100792038 DT.100721167 DT.80101939 DT.100792039 DT.100792040 DT.100792042 DT.121483560 DT.95099220 24/318 AceView cDNA sequences (see all 318): BE831508 AF433652 BU856922 BE831492 BE772447 AI086816 BU944747 F07293 BE831530 BG461234 CR590512 BE831520 BM988517 BM699327 H42886 BU625078 CD370198 BQ227841 BE772439 BM556010 BC008930 CA390318 BQ010328 BE772375
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ERCC1 (see all 10) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b |
|---|
|
| SP1: | | | | | | | | | - | | - | | | | | | | | | | | | | | - | | | | - | | | | | | | | - | | - | | | | | | |
| SP2: | | | | | | | | | - | | - | | | | | | | | | | | | | | - | | | | - | | - | | - | | | | - | | - | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | - | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | - | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for ERCC1
|
Expression
for ERCC1 gene
(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
| ERCC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCGGCTGCA
About this image
See ERCC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ERCC1
SOURCE GeneReport for Unigene cluster: Hs.435981
SABiosciences Expression via Pathway-Focused PCR Arrays including ERCC1 (see all 7):
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ERCC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ERCC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERCC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERCC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC1 |
Orthologs
for ERCC1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ERCC1 gene from 8/30 species (see all 30) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Ercc11 , 5 |
excision repair cross-complementing rodent repair deficiency, complementation group 1 less1, 5 |
82.6(n)1
86.2(a)1 |
|
7 (9.60 cM)5
138701 NM_007948.21 NP_031974.21
193447785 |
lizard
(Anolis carolinensis) |
Reptilia |
---- |
-- |
68(a)57(a) |
many → 1many → 1 |
GL343290.1(1358386-1358952) GL343868.1(159479-169285) |
African clawed frog
(Xenopus laevis) |
Amphibia |
ercc1-prov2 |
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) less |
75.59(n) |
|
BC043824.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
ercc11 |
excision repair cross-complementing rodent repair deficiency, complementation group 1 less |
60.05(n)
64.59(a) |
|
100001425 NM_001103138.1 NP_001096608.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Ercc11 , 3 |
nucleotide-excision repair single-stranded
DNA specific endodeoxyribonuclease less3
CG10215-PA1 |
46(a)3
51.65(n)1
46.69(a)1 |
|
51C53
366541 NM_058120.21 NP_477468.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
ercc-16 |
Protein ERCC-1 |
26(a) |
1 ↔ 1 |
I(10030162-10046749) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
ERCC11 |
DNA excision repair protein ERCC-1 |
50.36(n)
46.74(a) |
|
819685 NM_111394.4 NP_187172.1 |
rice
(Oryza sativa) |
Liliopsida |
Os10g05189001 |
hypothetical protein |
50.12(n)
44.33(a) |
|
4349131 NM_001071612.1 NP_001065077.1 |
ENSEMBL Gene Tree for ERCC1 (if available)
TreeFam Gene Tree for ERCC1 (if available) |
Paralogs
for ERCC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ERCC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ERCC1 (45910591 - 45982086 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ERCC1: --
Human Gene Mutation Database (HGMD): ERCC1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERCC1 |
|
Disorders
/ Diseases
for ERCC1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ERCC1 for disorders About GeneDecksing
OMIM gene information: 126380
OMIM disorders: 610758
UniProtKB/Swiss-Prot: ERCC1_HUMAN, P07992
Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758]. COFS is adegenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, itleads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy,progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of theskull, eyes, limbs, heart and kidney also occur
20/91  diseases for ERCC1 (see all 91): About MalaCardscerebrooculofacioskeletal syndrome xeroderma pigmentosum, group f xeroderma pigmentosum diffuse large b-cell lymphoma
cerebrooculofacioskeletal syndrome 4 non-small cell lung carcinoma actinic cheilitis b-cell lymphomas
soft tissue sarcoma thymic epithelial tumor corpus callosum cheilitis
squamous cell carcinoma cockayne syndrome malignant glioma squamous cell carcinoma of the head and neck
esophageal squamous cell carcinoma optic atrophy breast cancer susceptibility male infertility
6 diseases from the University of Copenhagen DISEASES database for ERCC1:Xeroderma pigmentosum Lung cancer Cockayne syndrome Ovarian cancer
Colorectal cancer Carcinoma 10/43 Novoseek disease relationships for ERCC1 gene (see all 43) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| xeroderma pigmentosum |
84.4 |
20 |
8972858 (1), 15358100 (1), 18635523 (1), 15709194 (1) (see all 18) |
| nsclc |
75.7 |
119 |
19538866 (5), 15764785 (4), 19799875 (4), 18804893 (4) (see all 52) |
| cockayne syndrome |
74.2 |
2 |
10910954 (1), 7596355 (1) |
| cancer lung |
67.7 |
61 |
17502833 (4), 12880561 (3), 18623378 (3), 16054657 (3) (see all 34) |
| ovarian cancer |
60.9 |
63 |
18756932 (6), 8040325 (4), 19832035 (3), 15375562 (3) (see all 28) |
| nsclc metastatic |
59.2 |
5 |
19733931 (2), 15277258 (1), 18823676 (1) |
| trichothiodystrophy |
57.9 |
1 |
7596355 (1) |
| tumors |
54.2 |
136 |
19488864 (5), 17606717 (5), 15095299 (4), 14614013 (3) (see all 80) |
| cancer |
51.1 |
58 |
15629453 (2), 17707593 (2), 19832035 (2), 17976974 (2) (see all 29) |
| colorectal cancer |
48.7 |
17 |
16224397 (3), 19020759 (3), 19194123 (3), 16144923 (2) (see all 7) |
GeneTests: ERCC1
Xeroderma Pigmentosum
Genetic Association Database (GAD): ERCC1
Human Genome Epidemiology (HuGE) Navigator: ERCC1 (195 documents)
Export disorders for ERCC1 gene to outside databases
|
Publications
for ERCC1 gene (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 ERCC1 gene, integrated from 9 sources (see all 636):
(articles sorted by number of sources associating them with ERCC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- ERCC1 gene polymorphism as a predictor for clinical outcome in advanced colorectal cancer patients treated with platinum-based chemotherapy. (PubMed id 16224397)1, 4, 9 Park D.J....Lenz H.J. (2003)
- Association between polymorphisms of ERCC1 and XPD and survival in non-small-cell lung cancer patients treated with cisplatin combination chemotherapy. (PubMed id 15140544)1, 4, 9 Ryu J.S....Hwang T.S. (2004)
- A nucleotide polymorphism in ERCC1 in human ovarian cancer cell lines and tumor tissues. (PubMed id 9360634)1, 2, 9 Yu J.J.... Reed E. (1997)
- Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. (PubMed id 16195237)1, 4, 9 Zienolddiny S....Haugen A. (2006)
- ERCC1 and ERCC2 polymorphisms and adult glioma. (PubMed id 16212814)1, 4, 9 Wrensch M....Wiencke J.K. (2005)
- Polymorphisms in ERCC1 and grade 3 or 4 toxicity in non-small cell lung cancer patients. (PubMed id 15746057)1, 4, 9 Suk R....Christiani D.C. (2005)
- Single nucleotide polymorphisms and outcome in docetaxel-cisplatin-treated advanced non-small-cell lung cancer. (PubMed id 15277258)1, 4, 9 Isla D....Lianes P. (2004)
- Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study for metabolic and DNA repair gene polymorphisms. (PubMed id 16393248)1, 4, 9 Sugimura T....Ishizaki K. (2006)
- Impact of gene polymorphisms on clinical outcome for stage IV melanoma patients treated with biochemotherapy: an exploratory study. (PubMed id 15709194)1, 4, 9 Liu D....Weber J. (2005)
- ERCC1 codon 118 polymorphism is a predictive factor for the tumor response to oxaliplatin/5-fluorouracil combination chemotherapy in patients with advanced colorectal cancer. (PubMed id 16144923)1, 4, 9 Viguier J....Praz F. (2005)
|
External Searches for ERCC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing ERCC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing ERCC1 gene
(According to HUGE)
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| -- |
Specialized Databases showing ERCC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
|
About This Section
| Patent Information for ERCC1 gene:
Search GeneIP for patents involving ERCC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ERCC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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|
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