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Aliases for ERCC3 Gene

Aliases for ERCC3 Gene

  • Excision Repair Cross-Complementation Group 3 2 3
  • XPB 3 4 6
  • 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
  • TFIIH Basal Transcription Factor Complex Helicase XPB Subunit 3
  • 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
  • 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 ercc3-related xeroderma pigmentosum. Among its related pathways are Disease and Cell Cycle / Checkpoint Control. GO annotations related to this gene include GTP binding and protein kinase 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

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 Lys222 and Lys601
  • Modification sites at PhosphoSitePlus

Other Protein References for ERCC3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

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

Domains for ERCC3 Gene

Gene Families for ERCC3 Gene

HGNC:
  • GTF :General transcription factors
  • TFIIH :General transcription factor IIH complex subunits

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 :
  • P19447
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 10734143
genes like me logo Genes that share ontologies with ERCC3: view
genes like me logo Genes that share phenotypes with ERCC3: view

Animal Model Products

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 Targeting 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
cytosol 2

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 for ERCC3 Gene

SuperPathways for ERCC3 Gene

Superpath Contained pathways
1 Formation of RNA Pol II elongation complex
2 DNA Repair
3 Global Genomic NER (GG-NER)
4 RNA Polymerase I Promoter Opening
5 HIV Life Cycle
genes like me logo Genes that share pathways with ERCC3: view

Pathways by source for ERCC3 Gene

1 Qiagen pathway for ERCC3 Gene
3 Cell Signaling Technology pathways for ERCC3 Gene
1 BioSystems pathway for ERCC3 Gene

PCR Array Products

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 TAS --
GO:0001666 response to hypoxia IEA --
GO:0006200 obsolete ATP catabolic process --
GO:0006265 DNA topological change IMP 8663148
genes like me logo Genes that share ontologies with ERCC3: view

Compounds for ERCC3 Gene

(6) Novoseek inferred chemical compound relationships for ERCC3 Gene

Compound -log(P) Hits PubMed IDs
cpds 61.1 3
phosphodiester 53.1 7
cisplatin 28.5 5
melphalan 11.3 1
atp 0 10
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

Primer Products

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

Integrated Proteomics: protein expression 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 expressions with ERCC3: view

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
chimpanzee
(Pan troglodytes)
Mammalia ERCC3 35
  • 97.83 (n)
  • 97.56 (a)
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
oppossum
(Monodelphis domestica)
Mammalia ERCC3 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC3 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ercc3 35
  • 87.3 (n)
  • 95.91 (a)
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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012169 35
  • 64.63 (n)
  • 72.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta hay 35
  • 65.41 (n)
  • 72.57 (a)
hay 36
  • 67 (a)
OneToOne
hay 37
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea Y66D12A.15 35
  • 63.1 (n)
  • 67.24 (a)
Y66D12A.15 36
  • 63 (a)
OneToOne
Y66D12A.15 37
  • 63 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR280W 35
  • 57.89 (n)
  • 58.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSL2 35
  • 57.89 (n)
  • 58.37 (a)
SSL2 36
  • 49 (a)
OneToOne
SSL2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13025g 35
  • 57.8 (n)
  • 57.65 (a)
soybean
(Glycine max)
eudicotyledons Gma.7265 35
thale cress
(Arabidopsis thaliana)
eudicotyledons XPB2 35
  • 58.14 (n)
  • 59.8 (a)
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

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

(2) OMIM Diseases for ERCC3 Gene (133510)

UniProtKB/Swiss-Prot

ERCC3_HUMAN
  • 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.
  • Trichothiodystrophy photosensitive (TTDP) [MIM:601675]: TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. {ECO:0000269 PubMed:9012405}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ERCC3 Gene

(19) Novoseek inferred disease relationships for ERCC3 Gene

Disease -log(P) Hits PubMed IDs
trichothiodystrophy 96.6 17
cockayne syndrome 95.3 23
xeroderma pigmentosum 94.5 53
group b cockayne syndrome 80.6 1
group a cockayne syndrome 75.5 1

Relevant External Links for ERCC3

GeneTests
ERCC3
GeneReviews
ERCC3
Genetic Association Database (GAD)
ERCC3
Human Genome Epidemiology (HuGE) Navigator
ERCC3
genes like me logo Genes that share disorders with ERCC3: view

Publications for ERCC3 Gene

  1. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. (PMID: 8304337) Vermeulen W. … Weeda G. (Am. J. Hum. Genet. 1994) 3 4 23 48
  2. Molecular cloning and biological characterization of the human excision repair gene ERCC-3. (PMID: 2111438) Weeda G. … Hoeijmakers J.H.J. (Mol. Cell. Biol. 1990) 3 4 23
  3. Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH). (PMID: 8157004) van Vuuren A.J. … Egly J.-M. (EMBO J. 1994) 3 4 23
  4. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. (PMID: 9012405) Weeda G. … Sarasin A. (Am. J. Hum. Genet. 1997) 3 4 23
  5. RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription. (PMID: 8202161) Guzder S.N. … Prakash S. (Nature 1994) 2 3 23

Products for ERCC3 Gene

  • Addgene plasmids for ERCC3

Sources for ERCC3 Gene

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