ERCC6 cdna clone
ERCC6 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
Uniprot Description
ERCC6: Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II- blocking lesions. Defects in ERCC6 are the cause of Cockayne syndrome type B (CSB). Cockayne syndrome is a rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. Defects in ERCC6 are the cause of cerebro-oculo-facio- skeletal syndrome type 1 (COFS1); also known as COFS syndrome or Pena-Shokeir syndrome type 2. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads 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 the skull, eyes, limbs, heart and kidney also occur. Defects in ERCC6 are a cause of De Sanctis-Cacchione syndrome (DSC); also known as xerodermic idiocy. DSC is an autosomal recessive syndrome consisting of xeroderma pigmentosum associated with mental retardation, retarded growth, gonadal hypoplasia and sometimes neurologic complications. Defects in ERCC6 are the cause of susceptibility to age- related macular degeneration type 5 (ARMD5). A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Defects in ERCC6 are a cause of UV-sensitive syndrome type 1 (UVSS1). A rare autosomal recessive disorder characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors. Patient exhibit a number of freckles, hypopigmented spots, telangiectases, and slightly dried skin in sun-exposed areas. Belongs to the SNF2/RAD54 helicase family.
Protein type: DNA repair, damage; Helicase; EC 3.6.4.-; Transcription regulation; EC 3.6.1.-
Chromosomal Location of Human Ortholog: 10q11.23
Cellular Component: nucleolus; nucleoplasm; nucleus; transcription elongation factor complex
Molecular Function: ATP binding; chromatin binding; DNA binding; DNA helicase activity; DNA-dependent ATPase activity; protein binding; protein C-terminus binding; protein complex binding; protein N-terminus binding; protein tyrosine kinase activator activity
Biological Process: base-excision repair; positive regulation of gene expression, epigenetic; positive regulation of RNA elongation; regulation of RNA elongation; response to oxidative stress; response to UV; transcription-coupled nucleotide-excision repair
Disease: Cerebrooculofacioskeletal Syndrome 1; Cockayne Syndrome B; De Sanctis-cacchione Syndrome; Lung Cancer; Macular Degeneration, Age-related, 5; Premature Ovarian Failure 11; Uv-sensitive Syndrome 1
Research Articles on ERCC6
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Product Notes
The ERCC6 ercc6 (Catalog #AAA1268092) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGCCAAATG AGGGAATCCC CCACTCAAGT CAAACTCAGG AGCAAGACTG TTTACAGAGT CAACCTGTCA GTAATAATGA AGAAATGGCA ATCAAGCAAG AAAGTGGTGG TGATGGGGAG GTGGAGGAGT ACCTGTCCTT TCGTTCTGTG GGTGACGGGC TGTCCACCTC TGCTGTGGGG TGCGCATCAG CAGCTCCGAG GAGAGGGCCA GCCCTGCTGC ACATCGACCG ACATCAGATC CAGGCAGTAG AGCCTAGCGC CCAGGCCCTT GAGCTGCAGG GTTTGGGTGT GGACGTCTAT GACCAGGACG TGCTGGAACA GGGAGTGCTT CAGCAGGTGG ACAATGCCAT CCATGAGGCC AGCCGTGCCT CCCAGCTCGT TGACGTGGAG AAGGAGTATC GGTCGGTCCT GGATGACCTC ACGTCATGTA CGACATCCCT AAGGCAAATC AATAAAATTA TTGAACAGCT TAGCCCTCAA GCTGCCACCA GCAGAGACAT CAACAGGAAA CTAGATTCTG TAAAACGACA GAAGTATAAT AAGGAACAAC AGCTAAAAAA GATCACTGCA AAACAAAAGC ATCTCCAGGC CATCCTTGGA GGAGCAGAGG TGAAAATTGA ACTAGATCAC GCCAGTCTGG AGGAGGATGC AGAGCCGGGG CCATCCAGTC TTGGCAGCAT GCTCATGCCT GTCCAGGAGA CTGCCTGGGA AGAGCTCATC CGCACTGGCC AGATGACACC TTTTGGTACC CAGATCCCTC AGAAACAGGA GAAAAAGCCC AGAAAAATCA TGCTTAATGA AGCATCAGGC TTCGAAAAGT ATTTGGCAGA TCAAGCAAAA CTGTCTTTTG AAAGGAAGAA GCAAGGTTGT AATAAAAGAG CAGCTAGAAA AGCTCCAGCC CCAGTCACGC CTCCAGCCCC AGTGCAAAAT AAAAACAAAC CAAACAAGAA AGCCAGAGTT CTGTCCAAAA AAGAGGAGCG TTTGAAAAAG CACATCAAGA AACTCCAGAA GAGGGCTTTG CAGTTCCAGG GGAAAGTGGG ATTGCCAAAG GCAAGGAGAC CTTGGGAGTC AGACATGAGG CCAGAGGCAG AGGGAGACTC TGAGGGTGAA GAGTCTGAGT ATTTCCCCAC AGAGGAGGAG GAAGAGGAGG AAGATGACGA GGTGGAGGGG GCAGAGGCGG ACCTGTCTGG AGATGGTACT GACTATGAGC TGAAGCCTCT GCCCAAGGGC GGGAAACGGC AGAAGAAAGT GCCAGTGCAG GAGATTGATG ATGACTTTTT CCCAAGTTCT GGGGAAGAAG CTGAAGCTGC TTCTGTAGGA GAAGGAGGAG GAGGAGGTCG GAAAGTGGGA AGATACCGAG ATGATGGAGA TGAAGATTAT TATAAGCAGC GGTTAAGGAG ATGGAATAAA CTGAGACTGC AGGACAAAGA GAAACGTCTG AAGCTGGAGG ACGATTCTGA GGAAAGTGAT GCTGAATTTG ACGAAGGTTT TAAAGTGCCA GGTTTTCTGT TCAAAAAGCT TTTTAAGTAC CAGCAGACAG GTGTTAGGTG GCTGTGGGAA TTGCACTGCC AGCAGGCAGG AGGAATTCTG GGAGATGAAA TGGGATTGGG CAAGACCATC CAGATAATTG CCTTCTTGGC AGGTCTGAGC TACAGCAAGA TCAGGACTCG TGGTTCAAAT TACAGGTTTG AGGGGTTGGG TCCAACTGTA ATTGTCTGTC CAACAACAGT GATGCATCAG TGGGTGAAGG AATTTCACAC GTGGTGGCCT CCGTTCAGAG TGGCAATTCT ACATGAAACC GGTTCCTATA CCCACAAAAA GGAGAAACTA ATTCGAGATG TTGCTCATTG TCATGGAATT TTGATCACAT CTTACTCCTA CATTCGATTG ATGCAGGATG ACATTAGCAG GTATGACTGG CACTATGTGA TCTTGGACGA AGGACACAAA ATTCGAAATC CAAATGCTGC TGTCACCCTT GCTTGCAAAC AGTTTTGCAC CCCTCATCGG ATCATTCTGT CTGGCTCACC GATGCAAAAT AACCTCCGAG AGCTGTGGTC GCTCTTTGAC TTCATCTTCC CGGGAAAGTT AGGCACGTTG CCTGTGTTTA TGGAGCAGTT CTCCGTCCCC ATCACCATGG GGGGATATTC AAATGCTTCC CCAGTACAGG TCAAAACTGC TTACAAGTGT GCATGTGTCT TACGAGATAC CATAAATCCA TACCTACTGC GGAGAATGAA GTCAGATGTC AAGATGAGCC TTTCTTTGCC AGATAAAAAT GAACAGGTCT TATTTTGCCG TCTTACAGAT GAGCAGCATA AAGTCTACCA AAATTTCGTT GATTCCAAAG AAGTTTACAG GATTCTCAAT GGAGAGATGC AGATTTTCTC CGGACTTATA GCCCTAAGAA AAATTTGCAA CCACCCTGAT CTCTTTTCTG GAGGTCCCAA GAATCTCAAA GGTCTTCCTG ATGATGAACT AGAAGAAGAT CAGTTTGGGT ACTGGAAACG TTCTGGGAAA ATGATTGTTG TTGAGTCTTT GTTGAAAATA TGGCACAAGC AGGGTCAGCG AGTATTGCTG TTTTCTCAGT CAAGGCAGAT GCTGGACATA CTTGAAGTAT TCCTTAGAGC CCAAAAGTAT ACCTATCTCA AGATGGATGG TACCACTACA ATAGCTTCAA GACAGCCACT GATTACGAGA TACAATGAGG ACACATCCAT ATTTGTGTTT CTTCTGACCA CGCGGGTGGG TGGCTTAGGT GTCAACCTGA CGGGGGCAAA CAGAGTTGTC ATCTATGACC CAGACTGGAA CCCAAGCACG GACACGCAGG CCCGGGAGCG AGCATGGAGA ATAGGCCAGA AGAAGCAAGT GACTGTGTAC AGGCTCCTGA CTGCGGGCAC CATTGAAGAA AAGATCTACC ACCGACAAAT CTTCAAGCAG TTTTTGACAA ATAGAGTGCT AAAAGACCCA AAACAAAGGC GGTTTTTCAA ATCCAATGAT CTCTATGAGC TATTTACTCT GACTAGTCCT GATGCATCCC AGAGCACTGA AACAAGTGCA ATTTTTGCAG GAACTGGATC AGATGTTCAG ACACCCAAAT GCCATCTAAA AAGAAGGATT CCACCAGCCT TTGGAGCAGA CCATGATGTT CCAAAACGCA AGAAGTTCCC TGCTTCTAAC ATATCTGTAA ATGATGCCAC ATCATCTGAA GAGAAATCTG AGGCTAAAGG AGCTGAAGTA AATGCAGTAA CTTCTAATCG AAGTGATCCT TTGAAAGATG ACCCTCACAT GAGTAGTAAT GTAACTAGCA ATGATAGGCT TGGAGAAGAG ACAAATGCAG TATCTGGACC AGAAGAGTTG TCAGTGATTA GTGGAAATGG GGAATGTTCA AATTCTTCAG GAACAGGCAA AACTTCTATG CCATCTGGTG ATGAAAGCAT TGATGAAAAG TTAGGTCTTT CTTACAAAAG AGAAAGACCC AGCCAGGCTC AAACAGAAGC TTTTTGGGAG AATAAACAAA TGGAAAATAA TTTTTATAAG CACAAGTCAA AAACAAAACA TCATAGTGTG GCAGAAGAAG AGACCCTGGA GAAACATCTG AGACCAAAGC AAAAGCCTAA GAACTCTAAG CATTGCAGAG ACGCCAAGTT TGAAGGAACT CGAATTCCAC ACCTGGTGAA GAAAAGGCGT TACCAGAAGC AAGACAGTGA AAACAAGAGT GAGGCCAAGG AACAGAGCAA TGACGATTAT GTTTTGGAAA AGCTTTTCAA AAAATCAGTT GGCGTGCACA GTGTCATGAA GCACGATGCC ATCATGGATG GAGCCAGCCC AGATTATGTA CTGGTGGAGG CAGAAGCCAA CCGAGTGGCC CAGGATGCCC CGAAAGCACT GAGGCTCTCT CGTCAGCGGT GTCTGGGAGC AGTGTCTGGT GTTCCCACCT GGACTGGCCA CAGGGGGATT TCTGGTGCAC CAGCAGGAAA AAAGAGTAGA TTTGGTAAGA AAAGGAATTC TAACTTCTCT GTGCAGCATC CTTCATCAAC ATCTCCAACA GAGAAGTGCC AGGATGGCAT CATGAAAAAG GAGGGAAAAG ATAATGTCCC TGAGCATTTT AGTGGAAGAG CAGAAGATGC AGACTCTTCA TCCGGGCCCC TCGCTTCCTC CTCACTCTTG GCTAAAATGA GAGCTAGAAA CCACCTGATT CTGCCAGAGC GTTTAGAAAG TGAAAGCGGG CACCTGCAGG AAGCTTCTGC CCTGCTGCCC ACCACAGAAC ACGATGACCT TCTGGTGGAG ATGAGAAACT TCATCGCTTT CCAGGCCCAC ACTGATGGCC AGGCCAGCAC CAGGGAGATA CTGCAGGAGT TTGAATCCAA GTTATCTGCA TCACAGTCTT GTGTCTTCCG AGAACTATTG AGAAATCTGT GCACTTTCCA TAGAACTTCT GGTGGTGAAG GAATTTGGAA ACTCAAGCCA GAATACTGCT AA. It is sometimes possible for the material contained within the vial of "ERCC6, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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