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Aliases for ERCC4 Gene

Aliases for ERCC4 Gene

  • Excision Repair Cross-Complementation Group 4 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 4 2 3
  • Xeroderma Pigmentosum Group F-Complementing Protein 3 4
  • DNA Repair Protein Complementing XP-F Cells 3 4
  • DNA Excision Repair Protein ERCC-4 3 4
  • ERCC11 3 4
  • XPF 3 4
  • Excision-Repair, Complementing Defective, In Chinese Hamster 3
  • Xeroderma Pigmentosum, Complementation Group F 3
  • Complementation Group F 2
  • Xeroderma Pigmentosum 2
  • EC 3.1.-.- 4
  • FANCQ 3
  • XFEPS 3
  • RAD1 3

External Ids for ERCC4 Gene

Previous HGNC Symbols for ERCC4 Gene

  • XPF

Previous GeneCards Identifiers for ERCC4 Gene

  • GC16P013959
  • GC16P014166
  • GC16P013980
  • GC16P013922

Summaries for ERCC4 Gene

Entrez Gene Summary for ERCC4 Gene

  • The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

GeneCards Summary for ERCC4 Gene

ERCC4 (Excision Repair Cross-Complementation Group 4) is a Protein Coding gene. Diseases associated with ERCC4 include xeroderma pigmentosum, group f and xfe progeroid syndrome. Among its related pathways are Fanconi anemia pathway and Nucleotide excision repair. GO annotations related to this gene include nucleic acid binding and protein N-terminus binding.

UniProtKB/Swiss-Prot for ERCC4 Gene

  • Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.

Gene Wiki entry for ERCC4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC4 Gene

Genomics for ERCC4 Gene

Regulatory Elements for ERCC4 Gene

Enhancers for ERCC4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ERCC4 on UCSC Golden Path with GeneCards custom track

Promoters for ERCC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERCC4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ERCC4 Gene

Chromosome:
16
Start:
13,920,145 bp from pter
End:
13,952,348 bp from pter
Size:
32,204 bases
Orientation:
Plus strand

Genomic View for ERCC4 Gene

Genes around ERCC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC4 Gene

Proteins for ERCC4 Gene

  • Protein details for ERCC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92889-XPF_HUMAN
    Recommended name:
    DNA repair endonuclease XPF
    Protein Accession:
    Q92889
    Secondary Accessions:
    • A5PKV6
    • A8K111
    • O00140
    • Q8TD83

    Protein attributes for ERCC4 Gene

    Size:
    916 amino acids
    Molecular mass:
    104486 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterodimer composed of ERCC1 and XPF/ERCC4. Interacts with SLX4/BTBD12; this interaction is direct and links the ERCC1-XPF/ERCC1 complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair.
    SequenceCaution:
    • Sequence=AAB07689.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ERCC4 Gene

    Alternative splice isoforms for ERCC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC4 Gene

Proteomics data for ERCC4 Gene at MOPED

Post-translational modifications for ERCC4 Gene

  • Ubiquitination at Lys 753
  • Modification sites at PhosphoSitePlus

Other Protein References for ERCC4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERCC4 (ERCC4)

No data available for DME Specific Peptides for ERCC4 Gene

Domains & Families for ERCC4 Gene

Protein Domains for ERCC4 Gene

Suggested Antigen Peptide Sequences for ERCC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q92889

UniProtKB/Swiss-Prot:

XPF_HUMAN :
  • Contains 1 ERCC4 domain.
  • Belongs to the XPF family.
Domain:
  • Contains 1 ERCC4 domain.
Family:
  • Belongs to the XPF family.
genes like me logo Genes that share domains with ERCC4: view

Function for ERCC4 Gene

Molecular function for ERCC4 Gene

GENATLAS Biochemistry:
excision repair 103 kDa,single strand DNA endonuclease,cross-complementing rodent repair defect in CHO cells,complementation group 4 and group 11,yeast RAD1 homolog,same as ERCC11,homologous with eukaryotic DNA repair and recombination proteins MEI-9 from Drosophila,RAD16 S pombe,RAD1 S cerevisiae
UniProtKB/Swiss-Prot Function:
Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.

Enzyme Numbers (IUBMB) for ERCC4 Gene

Gene Ontology (GO) - Molecular Function for ERCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IDA 10413517
GO:0004518 nuclease activity IEA --
GO:0008022 protein C-terminus binding IPI 9722633
genes like me logo Genes that share ontologies with ERCC4: view
genes like me logo Genes that share phenotypes with ERCC4: view

Human Phenotype Ontology for ERCC4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ERCC4 Gene

Localization for ERCC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC4 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERCC4 Gene COMPARTMENTS Subcellular localization image for ERCC4 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ERCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000110 nucleotide-excision repair factor 1 complex IDA 10413517
GO:0005669 transcription factor TFIID complex IEA --
genes like me logo Genes that share ontologies with ERCC4: view

Pathways & Interactions for ERCC4 Gene

genes like me logo Genes that share pathways with ERCC4: view

Pathways by source for ERCC4 Gene

SIGNOR curated interactions for ERCC4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ERCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA,IMP 19596235
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair IMP,TAS 8797827
GO:0006293 nucleotide-excision repair, preincision complex stabilization TAS --
GO:0006295 nucleotide-excision repair, DNA incision, 3-to lesion IMP,TAS --
genes like me logo Genes that share ontologies with ERCC4: view

Drugs & Compounds for ERCC4 Gene

(7) Drugs for ERCC4 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Platinum compounds Pharma 0
Magnesium Nutra 0

(3) Additional Compounds for ERCC4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ERCC4: view

Transcripts for ERCC4 Gene

Unigene Clusters for ERCC4 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - -
SP2: -
SP3:
SP4: - -
SP5:
SP6:

Relevant External Links for ERCC4 Gene

GeneLoc Exon Structure for
ERCC4
ECgene alternative splicing isoforms for
ERCC4

Expression for ERCC4 Gene

mRNA expression in normal human tissues for ERCC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ERCC4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.7) and Heart (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERCC4 Gene



SOURCE GeneReport for Unigene cluster for ERCC4 Gene Hs.567265

genes like me logo Genes that share expression patterns with ERCC4: view

Protein tissue co-expression partners for ERCC4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC4 Gene

Orthologs for ERCC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ERCC4 35
  • 85.44 (n)
  • 89.63 (a)
ERCC4 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC4 35
  • 86.1 (n)
  • 91.05 (a)
ERCC4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc4 35
  • 80.49 (n)
  • 86.14 (a)
Ercc4 16
Ercc4 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERCC4 35
  • 99.56 (n)
  • 99.56 (a)
ERCC4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ercc4l1 35
  • 79.77 (n)
  • 84.67 (a)
oppossum
(Monodelphis domestica)
Mammalia ERCC4 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC4 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERCC4 35
  • 74.52 (n)
  • 77.56 (a)
ERCC4 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERCC4 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc4 35
  • 70.42 (n)
  • 76.58 (a)
Str.15254 35
zebrafish
(Danio rerio)
Actinopterygii ercc4 35
  • 63.24 (n)
  • 65.43 (a)
wufi03a05 35
ercc4 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mei-9 37
  • 40 (a)
mei-9 35
  • 50.94 (n)
  • 44.87 (a)
mei-9 36
  • 38 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002805 35
  • 51.96 (n)
  • 47.16 (a)
worm
(Caenorhabditis elegans)
Secernentea C47D12.8 36
  • 29 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR456C 35
  • 49.19 (n)
  • 44.24 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12210g 35
  • 46.16 (n)
  • 38.77 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD1 35
  • 46.55 (n)
  • 37.12 (a)
RAD1 36
  • 27 (a)
OneToOne
RAD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons UVH1 35
  • 49.73 (n)
  • 44.04 (a)
rice
(Oryza sativa)
Liliopsida Os03g0100400 35
  • 48.83 (n)
  • 40.89 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07440 35
  • 50.89 (n)
  • 45.25 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad16 35
  • 46.96 (n)
  • 37.89 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToOne
Species with no ortholog for ERCC4:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERCC4 Gene

ENSEMBL:
Gene Tree for ERCC4 (if available)
TreeFam:
Gene Tree for ERCC4 (if available)

Paralogs for ERCC4 Gene

No data available for Paralogs for ERCC4 Gene

Variants for ERCC4 Gene

Sequence variations from dbSNP and Humsavar for ERCC4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_005849 -
VAR_005850 Xeroderma pigmentosum complementation group F (XP-F)
VAR_008200 Xeroderma pigmentosum complementation group F (XP-F)
VAR_008201 Xeroderma pigmentosum complementation group F (XP-F)
VAR_008202 Xeroderma pigmentosum complementation group F (XP-F)

Variation tolerance for ERCC4 Gene

Residual Variation Intolerance Score: 39.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERCC4 Gene

HapMap Linkage Disequilibrium report
ERCC4
Human Gene Mutation Database (HGMD)
ERCC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERCC4 Gene

Disorders for ERCC4 Gene

MalaCards: The human disease database

(16) MalaCards diseases for ERCC4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group f
  • xeroderma pigmentosum, type f/cockayne syndrome
xfe progeroid syndrome
  • xpf-ercc1 progeroid syndrome
fanconi anemia, complementation group q
  • fanconi anemia complementation group q
cockayne syndrome type i
  • cockayne syndrome classic form
ercc4-related fanconi anemia
  • fanconi anemia, complementation group q
- elite association - COSMIC cancer census association via MalaCards
Search ERCC4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XPF_HUMAN
  • Fanconi anemia complementation group Q (FANCQ) [MIM:615272]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:23623386, ECO:0000269 PubMed:24027083}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]: 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. XP-F patients show a mild phenotype. {ECO:0000269 PubMed:8797827, ECO:0000269 PubMed:9579555, ECO:0000269 PubMed:9580660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]: A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • XFE progeroid syndrome (XFEPS) [MIM:610965]: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. {ECO:0000269 PubMed:17183314}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ERCC4

Genetic Association Database (GAD)
ERCC4
Human Genome Epidemiology (HuGE) Navigator
ERCC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERCC4
genes like me logo Genes that share disorders with ERCC4: view

No data available for Genatlas for ERCC4 Gene

Publications for ERCC4 Gene

  1. ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. (PMID: 8887684) Brookman K.W. … Thompson L.H. (Mol. Cell. Biol. 1996) 2 3 4 23 67
  2. Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. (PMID: 9579555) Sijbers A.M. … Kleijer W.J. (J. Invest. Dermatol. 1998) 2 3 23
  3. Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study. (PMID: 19902366) Agalliu I. … Stanford J.L. (Cancer Causes Control 2010) 3 23
  4. ERCC1 and XPF expression in human testicular germ cell tumors. (PMID: 19956886) KAPberle B. … Kaina B. (Oncol. Rep. 2010) 3 23
  5. A novel XPF -357A>C polymorphism predicts risk and recurrence of bladder cancer. (PMID: 20062074) Wang M. … Zhang Z. (Oncogene 2010) 3 23

Products for ERCC4 Gene

Sources for ERCC4 Gene

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