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Aliases for ERCC3 Gene

Aliases for ERCC3 Gene

  • Excision Repair Cross-Complementation Group 3 2 3 5
  • 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 Gene Expression and HIV Life Cycle. 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

Promoters for ERCC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERCC3 on UCSC Golden Path with GeneCards custom track

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

Genes around ERCC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 IEA,TAS 8663148
GO:0003684 damaged DNA binding NAS 2167179
GO:0004386 helicase activity TAS --
GO:0008022 protein C-terminus binding IPI 10801852
GO:0008094 contributes_to DNA-dependent ATPase activity IMP 8663148
genes like me logo Genes that share ontologies with ERCC3: view
genes like me logo Genes that share phenotypes with ERCC3: view

Human Phenotype Ontology for ERCC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC3 Gene

MGI Knock Outs for ERCC3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ERCC3

miRNA for ERCC3 Gene

miRTarBase miRNAs that target ERCC3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for 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
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ERCC3 Gene

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 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
4 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
5 Infectious disease
.48
genes like me logo Genes that share pathways with ERCC3: view

Pathways by source for ERCC3 Gene

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,TAS --
GO:0006265 DNA topological change IMP 8663148
GO:0006281 DNA repair IMP,TAS 2167179
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006293 nucleotide-excision repair, preincision complex stabilization 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
Platinum compounds Pharma 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
Full agonist, Agonist 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
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:

Inhibitory RNA 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

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
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 36
  • 97 (a)
OneToOne
ERCC3 35
  • 90.49 (n)
  • 97.06 (a)
mouse
(Mus musculus)
Mammalia Ercc3 16
Ercc3 36
  • 96 (a)
OneToOne
Ercc3 35
  • 87.43 (n)
  • 95.91 (a)
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 36
  • 79 (a)
OneToOne
ercc3 35
  • 76.12 (n)
  • 88.7 (a)
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 37
  • 68 (a)
hay 36
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y66D12A.15 35
  • 63.1 (n)
  • 67.24 (a)
Y66D12A.15 37
  • 63 (a)
Y66D12A.15 36
  • 63 (a)
OneToOne
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
rs1143407 -- 127,266,308(-) gtcga(A/G)atcat intron-variant
rs2174271 -- 127,273,594(+) aaaat(A/G)caaaa intron-variant
rs2174272 -- 127,261,016(-) ATGGC(A/G)CTATG intron-variant
rs2271026 -- 127,292,907(+) TGGGC(C/T)CTTGC intron-variant
rs2404533 -- 127,268,739(-) CCcca(A/G)agcac 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

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

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group b
  • xeroderma pigmentosum complementation group b
trichothiodystrophy 2, photosensitive
  • ttd2
ercc3-related xeroderma pigmentosum
melanoma, cutaneous malignant, 9
  • cmm9
cockayne syndrome
  • cockayne's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ERCC3 in MalaCards View complete list of genes associated with diseases

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 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.

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. 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 67
  2. 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
  3. The TFIIH subunit p89 (XPB) localizes to the centrosome during mitosis. (PMID: 20208140) Weber A. … Warth R. (Cell. Oncol. 2010) 3 23
  4. Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair. (PMID: 17466626) Coin F. … Egly J.M. (Mol. Cell 2007) 3 23
  5. Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells. (PMID: 16669699) Giglia-Mari G. … Vermeulen W. (PLoS Biol. 2006) 3 23

Products for ERCC3 Gene

Sources for ERCC3 Gene

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