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Aliases for ERCC3 Gene

Aliases for ERCC3 Gene

  • Excision Repair Cross-Complementation Group 3 2 3
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 3 2 3
  • TFIIH Basal Transcription Factor Complex 89 KDa Subunit 3 4
  • Xeroderma Pigmentosum Group B-Complementing Protein 3 4
  • Basic Transcription Factor 2 89 KDa Subunit 3 4
  • DNA Repair Protein Complementing XP-B Cells 3 4
  • DNA Excision Repair Protein ERCC-3 3 4
  • TFIIH 89 KDa Subunit 3 4
  • TFIIH P89 3 4
  • BTF2 P89 3 4
  • XPB 3 4
  • Xeroderma Pigmentosum, Complementation Group B 3
  • Xeroderma Pigmentosum Group B Complementing 2
  • DNA Repair Helicase 3
  • EC 3.6.4.12 4
  • EC 3.6.1 63
  • TFIIH 3
  • GTF2H 3
  • RAD25 3
  • BTF2 3
  • TTD2 3
  • XPBC 4

External Ids for ERCC3 Gene

Previous GeneCards Identifiers for ERCC3 Gene

  • GC02M125313
  • GC02M125941
  • GC02M127919
  • GC02M128108
  • GC02M127731
  • GC02M128014
  • GC02M120322

Summaries for ERCC3 Gene

Entrez Gene Summary for ERCC3 Gene

  • This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for ERCC3 Gene

ERCC3 (Excision Repair Cross-Complementation Group 3) is a Protein Coding gene. Diseases associated with ERCC3 include xeroderma pigmentosum, group b and trichothiodystrophy 2, photosensitive. Among its related pathways are Infectious disease and DNA Damage. GO annotations related to this gene include protein kinase activity and hydrolase activity.

UniProtKB/Swiss-Prot for ERCC3 Gene

  • ATP-dependent 3-5 DNA helicase, component of the core-TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage.

Gene Wiki entry for ERCC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC3 Gene

Genomics for ERCC3 Gene

Regulatory Elements for ERCC3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ERCC3 Gene

Chromosome:
2
Start:
127,257,290 bp from pter
End:
127,294,176 bp from pter
Size:
36,887 bases
Orientation:
Minus strand

Genomic View for ERCC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERCC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC3 Gene

Proteins for ERCC3 Gene

  • Protein details for ERCC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19447-ERCC3_HUMAN
    Recommended name:
    TFIIH basal transcription factor complex helicase XPB subunit
    Protein Accession:
    P19447
    Secondary Accessions:
    • Q53QM0

    Protein attributes for ERCC3 Gene

    Size:
    782 amino acids
    Molecular mass:
    89278 Da
    Quaternary structure:
    • One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. Interacts with PUF60. Interacts with ATF7IP. Interacts with Epstein-Barr virus EBNA2.

    Three dimensional structures from OCA and Proteopedia for ERCC3 Gene

neXtProt entry for ERCC3 Gene

Proteomics data for ERCC3 Gene at MOPED

Post-translational modifications for ERCC3 Gene

  • Ubiquitination at Lys 222 and Lys 601
  • Modification sites at PhosphoSitePlus

Other Protein References for ERCC3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERCC3 (XPB)

Domains & Families for ERCC3 Gene

Suggested Antigen Peptide Sequences for ERCC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19447

UniProtKB/Swiss-Prot:

ERCC3_HUMAN :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the helicase family. RAD25/XPB subfamily.
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the helicase family. RAD25/XPB subfamily.
genes like me logo Genes that share domains with ERCC3: view

Function for ERCC3 Gene

Molecular function for ERCC3 Gene

GENATLAS Biochemistry:
excision repair cross-complementing rodent repair defect in CHO cells (DNA repair helicase),complementation group 3,yeast RAD25 homolog,D discoidum REPB homolog,with mutations decreasing GTF2H activity in XPB patients
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function:
ATP-dependent 3-5 DNA helicase, component of the core-TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage.

Enzyme Numbers (IUBMB) for ERCC3 Gene

Gene Ontology (GO) - Molecular Function for ERCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 8663148
GO:0003684 damaged DNA binding NAS 2167179
GO:0004003 ATP-dependent DNA helicase activity IEA --
GO:0004672 contributes_to protein kinase activity IDA 9852112
GO:0005515 protein binding IPI 7663514
genes like me logo Genes that share ontologies with ERCC3: view
genes like me logo Genes that share phenotypes with ERCC3: view

miRNA for ERCC3 Gene

miRTarBase miRNAs that target ERCC3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERCC3

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ERCC3 Gene

Localization for ERCC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERCC3 Gene COMPARTMENTS Subcellular localization image for ERCC3 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ERCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA --
GO:0005634 nucleus TAS 8663148
GO:0005654 nucleoplasm TAS --
GO:0005675 holo TFIIH complex TAS 7663514
genes like me logo Genes that share ontologies with ERCC3: view

Pathways & Interactions for ERCC3 Gene

SuperPathways for ERCC3 Gene

Superpath Contained pathways
1 RNA Polymerase II Transcription Initiation And Promoter Clearance
2 Formation of the HIV-1 Early Elongation Complex
3 RNA Polymerase I Transcription
4 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
5 Infectious disease
.53
genes like me logo Genes that share pathways with ERCC3: view

Pathways by source for ERCC3 Gene

PCR Array Products

SIGNOR curated interactions for ERCC3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ERCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000717 nucleotide-excision repair, DNA duplex unwinding IMP 17466626
GO:0000718 nucleotide-excision repair, DNA damage removal --
GO:0001666 response to hypoxia IEA --
GO:0006265 DNA topological change IMP 8663148
GO:0006281 DNA repair TAS --
genes like me logo Genes that share ontologies with ERCC3: view

Drugs & Compounds for ERCC3 Gene

(6) Drugs for ERCC3 Gene - From: NovoSeek, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Melphalan Approved Pharma 664
Platinum compounds Pharma 0
ATP Pharma Activator 0

(5) Additional Compounds for ERCC3 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
CPDS
Phosphodiester
genes like me logo Genes that share compounds with ERCC3: view

Transcripts for ERCC3 Gene

Unigene Clusters for ERCC3 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERCC3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ·
SP1: - - - - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4:
SP5: - - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - - - - - -
SP13:
SP14:
SP15: - - - - - - - - -
SP16: - - - - - - - - - - - - -
SP17: - - - - - -
SP18: - - - - - -
SP19:
SP20: - - - - - -
SP21: - - -
SP22: - -
SP23:
SP24: - -
SP25:

ExUns: 9c · 9d · 9e · 9f ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - - -
SP12:
SP13: - -
SP14: - -
SP15:
SP16: - - - - - - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22: - -
SP23:
SP24:
SP25: - - -

Relevant External Links for ERCC3 Gene

GeneLoc Exon Structure for
ERCC3
ECgene alternative splicing isoforms for
ERCC3

Expression for ERCC3 Gene

mRNA expression in normal human tissues for ERCC3 Gene

Protein differential expression in normal tissues from HIPED for ERCC3 Gene

This gene is overexpressed in Plasma (21.5), Breast (14.1), Spleen (6.2), and Prostate (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERCC3 Gene



SOURCE GeneReport for Unigene cluster for ERCC3 Gene Hs.469872

genes like me logo Genes that share expression patterns with ERCC3: view

Protein tissue co-expression partners for ERCC3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC3 Gene

Orthologs for ERCC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ERCC3 35
  • 90.75 (n)
  • 97.31 (a)
ERCC3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC3 35
  • 90.49 (n)
  • 97.06 (a)
ERCC3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc3 35
  • 87.43 (n)
  • 95.91 (a)
Ercc3 16
Ercc3 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERCC3 35
  • 97.83 (n)
  • 97.56 (a)
rat
(Rattus norvegicus)
Mammalia Ercc3 35
  • 87.3 (n)
  • 95.91 (a)
oppossum
(Monodelphis domestica)
Mammalia ERCC3 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC3 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERCC3 35
  • 78.67 (n)
  • 91.58 (a)
ERCC3 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERCC3 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc3 35
  • 77.32 (n)
  • 90.54 (a)
zebrafish
(Danio rerio)
Actinopterygii ercc3 35
  • 76.12 (n)
  • 88.7 (a)
ercc3 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta hay 37
  • 68 (a)
hay 35
  • 65.41 (n)
  • 72.57 (a)
hay 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012169 35
  • 64.63 (n)
  • 72.36 (a)
worm
(Caenorhabditis elegans)
Secernentea Y66D12A.15 37
  • 63 (a)
Y66D12A.15 35
  • 63.1 (n)
  • 67.24 (a)
Y66D12A.15 36
  • 63 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR280W 35
  • 57.89 (n)
  • 58.23 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13025g 35
  • 57.8 (n)
  • 57.65 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSL2 35
  • 57.89 (n)
  • 58.37 (a)
SSL2 36
  • 49 (a)
OneToOne
SSL2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons XPB2 35
  • 58.14 (n)
  • 59.8 (a)
soybean
(Glycine max)
eudicotyledons Gma.7265 35
barley
(Hordeum vulgare)
Liliopsida Hv.2761 35
rice
(Oryza sativa)
Liliopsida Os.32672 35
Os01g0691600 35
  • 59.3 (n)
  • 57.37 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.8806 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06438 35
  • 57.43 (n)
  • 53.59 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ptr8 35
  • 56.83 (n)
  • 57.38 (a)
Species with no ortholog for ERCC3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ERCC3 Gene

ENSEMBL:
Gene Tree for ERCC3 (if available)
TreeFam:
Gene Tree for ERCC3 (if available)

Paralogs for ERCC3 Gene

Pseudogenes.org Pseudogenes for ERCC3 Gene

genes like me logo Genes that share paralogs with ERCC3: view

No data available for Paralogs for ERCC3 Gene

Variants for ERCC3 Gene

Sequence variations from dbSNP and Humsavar for ERCC3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1011019 -- 127,279,984(-) GTGGC(C/T)TAAAT intron-variant
rs1143407 -- 127,266,308(-) gtcga(A/G)atcat intron-variant
rs1566823 -- 127,260,616(-) AAGAC(C/T)GCAAT intron-variant
rs1803541 -- 127,257,337(-) AAGGT(A/G)TATTT utr-variant-3-prime
rs1805161 untested, - 127,292,731(-) GTACA(A/G)ACTAA reference, missense, intron-variant

Variation tolerance for ERCC3 Gene

Residual Variation Intolerance Score: 2.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERCC3 Gene

HapMap Linkage Disequilibrium report
ERCC3
Human Gene Mutation Database (HGMD)
ERCC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERCC3 Gene

Disorders for ERCC3 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ERCC3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

- elite association
Search ERCC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERCC3_HUMAN
  • Trichothiodystrophy 2, photosensitive (TTD2) [MIM:616390]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. {ECO:0000269 PubMed:9012405}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]: 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-B patients present features of Cockayne syndrome, including 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. {ECO:0000269 PubMed:16947863, ECO:0000269 PubMed:8304337}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ERCC3

Genetic Association Database (GAD)
ERCC3
Human Genome Epidemiology (HuGE) Navigator
ERCC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERCC3
genes like me logo Genes that share disorders with ERCC3: view

No data available for Genatlas for ERCC3 Gene

Publications for ERCC3 Gene

  1. RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription. (PMID: 8202161) Guzder S.N. … Prakash S. (Nature 1994) 2 23 67
  2. The XBP-Bax1 helicase-nuclease complex unwinds and cleaves DNA: implications for eukaryal and archaeal nucleotide excision repair. (PMID: 20139443) Rouillon C. … White M.F. (J. Biol. Chem. 2010) 23 67
  3. The long unwinding road: XPB and XPD helicases in damaged DNA opening. (PMID: 20016270) Oksenych V. … Coin F. (Cell Cycle 2010) 23 67
  4. The TFIIH subunit p89 (XPB) localizes to the centrosome during mitosis. (PMID: 20208140) Weber A. … Warth R. (Cell. Oncol. 2010) 23 67
  5. Transcription factor IIH - the protein complex with multiple functions. (PMID: 20429618) Mydlikova Z. … Pirsel M. (Neoplasma 2010) 23 67

Products for ERCC3 Gene

Sources for ERCC3 Gene

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