Details for: ERCC6

Gene ID: 2074

Symbol: ERCC6

Ensembl ID: ENSG00000225830

Description: ERCC excision repair 6, chromatin remodeling factor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 125.4298
    Cell Significance Index: -19.5100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 75.6968
    Cell Significance Index: -19.2000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 37.7593
    Cell Significance Index: -15.3400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.0829
    Cell Significance Index: -15.3600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.9373
    Cell Significance Index: -19.6500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.4664
    Cell Significance Index: -17.3200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.4172
    Cell Significance Index: -19.7100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.0025
    Cell Significance Index: -19.7400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.1305
    Cell Significance Index: -9.0400
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 4.0820
    Cell Significance Index: 67.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2182
    Cell Significance Index: 120.5100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0914
    Cell Significance Index: 218.9400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0695
    Cell Significance Index: 965.7000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.9898
    Cell Significance Index: 37.4800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.9687
    Cell Significance Index: 42.8500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9421
    Cell Significance Index: 337.9200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.8581
    Cell Significance Index: 18.7900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7269
    Cell Significance Index: 79.0600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6835
    Cell Significance Index: 135.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6832
    Cell Significance Index: 52.4300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6440
    Cell Significance Index: 38.6600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5997
    Cell Significance Index: 97.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5842
    Cell Significance Index: 26.4800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.5400
    Cell Significance Index: 10.5400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4450
    Cell Significance Index: 28.0500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4187
    Cell Significance Index: 9.0700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4016
    Cell Significance Index: 27.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4008
    Cell Significance Index: 72.2600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3776
    Cell Significance Index: 9.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3689
    Cell Significance Index: 24.8100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3535
    Cell Significance Index: 21.7300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3370
    Cell Significance Index: 9.7100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3072
    Cell Significance Index: 37.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2999
    Cell Significance Index: 15.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2819
    Cell Significance Index: 15.8200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2581
    Cell Significance Index: 6.1900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2542
    Cell Significance Index: 48.3700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2075
    Cell Significance Index: 5.9200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.1485
    Cell Significance Index: 7.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1325
    Cell Significance Index: 2.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0869
    Cell Significance Index: 38.4400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0830
    Cell Significance Index: 2.9200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0800
    Cell Significance Index: 1.7100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0598
    Cell Significance Index: 38.0000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0592
    Cell Significance Index: 1.5900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0562
    Cell Significance Index: 0.6700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0487
    Cell Significance Index: 26.5800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0408
    Cell Significance Index: 75.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0350
    Cell Significance Index: 1.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0233
    Cell Significance Index: 43.7800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0186
    Cell Significance Index: 28.6800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0048
    Cell Significance Index: 6.5600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0047
    Cell Significance Index: 0.1000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0019
    Cell Significance Index: 1.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0003
    Cell Significance Index: -0.1500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0033
    Cell Significance Index: -0.3900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0144
    Cell Significance Index: -2.1000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0165
    Cell Significance Index: -12.2600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0221
    Cell Significance Index: -16.7400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0244
    Cell Significance Index: -1.2700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0246
    Cell Significance Index: -0.3500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0286
    Cell Significance Index: -3.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0304
    Cell Significance Index: -17.1600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0315
    Cell Significance Index: -19.6600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0378
    Cell Significance Index: -6.4600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0498
    Cell Significance Index: -6.3900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0528
    Cell Significance Index: -0.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0559
    Cell Significance Index: -16.0900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0658
    Cell Significance Index: -7.5400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0675
    Cell Significance Index: -7.8700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0908
    Cell Significance Index: -5.8600
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0929
    Cell Significance Index: -1.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0932
    Cell Significance Index: -19.6200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0965
    Cell Significance Index: -2.2300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0977
    Cell Significance Index: -6.9100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1008
    Cell Significance Index: -13.0200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1016
    Cell Significance Index: -1.2600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1022
    Cell Significance Index: -2.7300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1043
    Cell Significance Index: -4.9000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1066
    Cell Significance Index: -2.9800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1113
    Cell Significance Index: -11.3700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1410
    Cell Significance Index: -14.6800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1413
    Cell Significance Index: -10.5300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1531
    Cell Significance Index: -3.2500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1568
    Cell Significance Index: -4.0300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1863
    Cell Significance Index: -11.4200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1922
    Cell Significance Index: -15.2200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2063
    Cell Significance Index: -1.9000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2113
    Cell Significance Index: -3.1200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2142
    Cell Significance Index: -6.8600
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.2205
    Cell Significance Index: -3.3600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2326
    Cell Significance Index: -6.3300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2663
    Cell Significance Index: -8.4800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2729
    Cell Significance Index: -14.3300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2743
    Cell Significance Index: -8.9800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.2841
    Cell Significance Index: -4.0800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2950
    Cell Significance Index: -4.4500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2983
    Cell Significance Index: -8.5500
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.3206
    Cell Significance Index: -4.5000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3219
    Cell Significance Index: -4.6100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** ERCC6 is a 236-kDa protein that belongs to the ATM/ATR family of kinase-associated proteins. It is a chromatin remodeling factor that interacts with other proteins to facilitate DNA repair and transcription regulation. ERCC6 has been shown to bind to DNA, specifically at sites of double-strand breaks, and recruits other repair proteins to initiate the repair process. The gene is expressed in various cell types, including corneal epithelial cells, neurons, and cancer cells. ERCC6 has been implicated in several signaling pathways, including the intrinsic apoptotic signaling pathway, JNK cascade, and PI3K/AKT pathway. **Pathways and Functions** ERCC6 is involved in various DNA repair pathways, including: 1. **Double-strand break repair via classical non-homologous end joining (NHEJ)**: ERCC6 interacts with other proteins to form the TC-NER complex, which is essential for the efficient repair of DNA damage in actively transcribing regions of the genome. 2. **Double-strand break repair via homologous recombination (HR)**: ERCC6 has been shown to interact with components of the HR pathway, including BRCA1 and BRCA2. 3. **Base-excision repair**: ERCC6 has been implicated in the repair of oxidative damage to DNA. 4. **Transcription-coupled nucleotide excision repair (TC-NER)**: ERCC6 is a key component of the TC-NER complex, which is responsible for the repair of DNA damage in actively transcribing regions of the genome. 5. **Chromatin remodeling**: ERCC6 interacts with other proteins to facilitate chromatin remodeling, which is essential for the regulation of gene expression. ERCC6 also regulates various signaling pathways, including: 1. **Intrinsic apoptotic signaling pathway**: ERCC6 has been implicated in the regulation of the intrinsic apoptotic signaling pathway, which is activated in response to DNA damage. 2. **JNK cascade**: ERCC6 interacts with components of the JNK cascade, which is involved in the regulation of cell survival and apoptosis. 3. **PI3K/AKT pathway**: ERCC6 has been implicated in the regulation of the PI3K/AKT pathway, which is involved in cell survival and proliferation. **Clinical Significance** Dysregulation of ERCC6 has been implicated in various diseases, including: 1. **Cancer**: ERCC6 mutations have been detected in several types of cancer, including breast, lung, and colon cancer. 2. **Neurodegenerative disorders**: ERCC6 has been implicated in the regulation of neuronal survival and apoptosis, and mutations in ERCC6 have been detected in patients with neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease. 3. **Genetic instability**: ERCC6 is essential for maintaining genome stability, and mutations in ERCC6 can lead to genetic instability and an increased risk of cancer. In conclusion, ERCC6 is a critical gene involved in maintaining genome stability through DNA repair mechanisms. Dysregulation of ERCC6 has been implicated in various diseases, including cancer and neurodegenerative disorders, highlighting the importance of this gene in maintaining genome stability and preventing disease.

Genular Protein ID: 75698908

Symbol: ERCC6_HUMAN

Name: DNA excision repair protein ERCC-6

UniProtKB Accession Codes:

Q03468 D3DX94 E7EV46 Q5W0L9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 4 CORUM 1 CTD 1 ChEBI 6 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 7 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 49 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 8 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 7 RefSeq 2 Rhea 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 2 UCSC 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1339317

Title: ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes.

PubMed ID: 1339317

DOI: 10.1016/0092-8674(92)90390-x

PubMed ID: 8382798

Title: Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B.

PubMed ID: 8382798

DOI: 10.1093/nar/21.3.419

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 10447254

Title: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PubMed ID: 10447254

DOI: 10.1002/(sici)1098-1004(1999)14:1<9::aid-humu2>3.0.co;2-6

PubMed ID: 10739753

Title: Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

PubMed ID: 10739753

DOI: 10.1086/302867

PubMed ID: 10767341

Title: Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum.

PubMed ID: 10767341

DOI: 10.1093/hmg/9.8.1171

PubMed ID: 15486090

Title: Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.

PubMed ID: 15486090

DOI: 10.1073/pnas.0404587101

PubMed ID: 16128801

Title: The Cockayne syndrome group B protein is a functional dimer.

PubMed ID: 16128801

DOI: 10.1111/j.1742-4658.2005.04844.x

PubMed ID: 15548521

Title: The CSB protein actively wraps DNA.

PubMed ID: 15548521

DOI: 10.1074/jbc.m409147200

PubMed ID: 16246722

Title: Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome.

PubMed ID: 16246722

DOI: 10.1016/j.molcel.2005.09.022

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16751180

Title: CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome.

PubMed ID: 16751180

DOI: 10.1101/gad.378206

PubMed ID: 16603771

Title: The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription.

PubMed ID: 16603771

DOI: 10.1074/jbc.m600233200

PubMed ID: 16916636

Title: Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo.

PubMed ID: 16916636

DOI: 10.1016/j.molcel.2006.06.029

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 16754848

Title: Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.

PubMed ID: 16754848

DOI: 10.1073/pnas.0603485103

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18438403

Title: Protein lysine methyltransferase G9a acts on non-histone targets.

PubMed ID: 18438403

DOI: 10.1038/nchembio.88

PubMed ID: 18369450

Title: An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.

PubMed ID: 18369450

DOI: 10.1371/journal.pgen.1000031

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20541997

Title: A ubiquitin-binding domain in cockayne syndrome B required for transcription-coupled nucleotide excision repair.

PubMed ID: 20541997

DOI: 10.1016/j.molcel.2010.04.017

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22483866

Title: The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells.

PubMed ID: 22483866

DOI: 10.1016/j.dnarep.2012.02.004

PubMed ID: 22466610

Title: Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

PubMed ID: 22466610

DOI: 10.1038/ng.2229

PubMed ID: 22466611

Title: UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.

PubMed ID: 22466611

DOI: 10.1038/ng.2230

PubMed ID: 22466612

Title: Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

PubMed ID: 22466612

DOI: 10.1038/ng.2228

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24874740

Title: The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis.

PubMed ID: 24874740

DOI: 10.1038/cddis.2014.228

PubMed ID: 25820262

Title: Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

PubMed ID: 25820262

DOI: 10.15252/embj.201490041

PubMed ID: 26030138

Title: Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics.

PubMed ID: 26030138

DOI: 10.1371/journal.pone.0128558

PubMed ID: 26620705

Title: The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.

PubMed ID: 26620705

DOI: 10.1074/jbc.m115.683235

PubMed ID: 28292928

Title: Cockayne syndrome B protein regulates recruitment of the Elongin A ubiquitin ligase to sites of DNA damage.

PubMed ID: 28292928

DOI: 10.1074/jbc.c117.777946

PubMed ID: 29203878

Title: ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

PubMed ID: 29203878

DOI: 10.1038/s41467-017-02114-x

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 29545921

Title: CSA and CSB play a role in the response to DNA breaks.

PubMed ID: 29545921

DOI: 10.18632/oncotarget.24342

PubMed ID: 32142649

Title: Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.

PubMed ID: 32142649

DOI: 10.1016/j.cell.2020.02.010

PubMed ID: 9443879

Title: Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

PubMed ID: 9443879

DOI: 10.1086/301686

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 18987736

Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PubMed ID: 18987736

DOI: 10.1038/nature07485

PubMed ID: 19894250

Title: Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PubMed ID: 19894250

DOI: 10.1002/humu.21154

Sequence Information:

  • Length: 1493
  • Mass: 168416
  • Checksum: 285257E2AEC071AC
  • Sequence:
    • MPNEGIPHSS QTQEQDCLQS QPVSNNEEMA IKQESGGDGE VEEYLSFRSV GDGLSTSAVG 
CASAAPRRGP ALLHIDRHQI QAVEPSAQAL ELQGLGVDVY DQDVLEQGVL QQVDNAIHEA 
SRASQLVDVE KEYRSVLDDL TSCTTSLRQI NKIIEQLSPQ AATSRDINRK LDSVKRQKYN 
KEQQLKKITA KQKHLQAILG GAEVKIELDH ASLEEDAEPG PSSLGSMLMP VQETAWEELI 
RTGQMTPFGT QIPQKQEKKP RKIMLNEASG FEKYLADQAK LSFERKKQGC NKRAARKAPA 
PVTPPAPVQN KNKPNKKARV LSKKEERLKK HIKKLQKRAL QFQGKVGLPK ARRPWESDMR 
PEAEGDSEGE ESEYFPTEEE EEEEDDEVEG AEADLSGDGT DYELKPLPKG GKRQKKVPVQ 
EIDDDFFPSS GEEAEAASVG EGGGGGRKVG RYRDDGDEDY YKQRLRRWNK LRLQDKEKRL 
KLEDDSEESD AEFDEGFKVP GFLFKKLFKY QQTGVRWLWE LHCQQAGGIL GDEMGLGKTI 
QIIAFLAGLS YSKIRTRGSN YRFEGLGPTV IVCPTTVMHQ WVKEFHTWWP PFRVAILHET 
GSYTHKKEKL IRDVAHCHGI LITSYSYIRL MQDDISRYDW HYVILDEGHK IRNPNAAVTL 
ACKQFRTPHR IILSGSPMQN NLRELWSLFD FIFPGKLGTL PVFMEQFSVP ITMGGYSNAS 
PVQVKTAYKC ACVLRDTINP YLLRRMKSDV KMSLSLPDKN EQVLFCRLTD EQHKVYQNFV 
DSKEVYRILN GEMQIFSGLI ALRKICNHPD LFSGGPKNLK GLPDDELEED QFGYWKRSGK 
MIVVESLLKI WHKQGQRVLL FSQSRQMLDI LEVFLRAQKY TYLKMDGTTT IASRQPLITR 
YNEDTSIFVF LLTTRVGGLG VNLTGANRVV IYDPDWNPST DTQARERAWR IGQKKQVTVY 
RLLTAGTIEE KIYHRQIFKQ FLTNRVLKDP KQRRFFKSND LYELFTLTSP DASQSTETSA 
IFAGTGSDVQ TPKCHLKRRI QPAFGADHDV PKRKKFPASN ISVNDATSSE EKSEAKGAEV 
NAVTSNRSDP LKDDPHMSSN VTSNDRLGEE TNAVSGPEEL SVISGNGECS NSSGTGKTSM 
PSGDESIDEK LGLSYKRERP SQAQTEAFWE NKQMENNFYK HKSKTKHHSV AEEETLEKHL 
RPKQKPKNSK HCRDAKFEGT RIPHLVKKRR YQKQDSENKS EAKEQSNDDY VLEKLFKKSV 
GVHSVMKHDA IMDGASPDYV LVEAEANRVA QDALKALRLS RQRCLGAVSG VPTWTGHRGI 
SGAPAGKKSR FGKKRNSNFS VQHPSSTSPT EKCQDGIMKK EGKDNVPEHF SGRAEDADSS 
SGPLASSSLL AKMRARNHLI LPERLESESG HLQEASALLP TTEHDDLLVE MRNFIAFQAH 
TDGQASTREI LQEFESKLSA SQSCVFRELL RNLCTFHRTS GGEGIWKLKP EYC

Genular Protein ID: 1938475289

Symbol: ERPG3_HUMAN

Name: Chimeric ERCC6-PGBD3 protein

UniProtKB Accession Codes:

P0DP91

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 7 GeneCards 1 GeneReviews 1 GeneTree 1 HGNC 1 HPA 1 IntAct 1 InterPro 2 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 Pumba 1 RNAct 1 RefSeq 2 SMR 1 SignaLink 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18369450

Title: An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.

PubMed ID: 18369450

DOI: 10.1371/journal.pgen.1000031

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22483866

Title: The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells.

PubMed ID: 22483866

DOI: 10.1016/j.dnarep.2012.02.004

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 26218421

Title: CSB-PGBD3 mutations cause premature ovarian failure.

PubMed ID: 26218421

DOI: 10.1371/journal.pgen.1005419

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

Sequence Information:

  • Length: 1061
  • Mass: 119487
  • Checksum: 542A37356E38C376
  • Sequence:
    • MPNEGIPHSS QTQEQDCLQS QPVSNNEEMA IKQESGGDGE VEEYLSFRSV GDGLSTSAVG 
CASAAPRRGP ALLHIDRHQI QAVEPSAQAL ELQGLGVDVY DQDVLEQGVL QQVDNAIHEA 
SRASQLVDVE KEYRSVLDDL TSCTTSLRQI NKIIEQLSPQ AATSRDINRK LDSVKRQKYN 
KEQQLKKITA KQKHLQAILG GAEVKIELDH ASLEEDAEPG PSSLGSMLMP VQETAWEELI 
RTGQMTPFGT QIPQKQEKKP RKIMLNEASG FEKYLADQAK LSFERKKQGC NKRAARKAPA 
PVTPPAPVQN KNKPNKKARV LSKKEERLKK HIKKLQKRAL QFQGKVGLPK ARRPWESDMR 
PEAEGDSEGE ESEYFPTEEE EEEEDDEVEG AEADLSGDGT DYELKPLPKG GKRQKKVPVQ 
EIDDDFFPSS GEEAEAASVG EGGGGGRKVG RYRDDGDEDY YKQRLSPKMP RTLSLHEITD 
LLETDDSIEA SAIVIQPPEN ATAPVSDEES GDEEGGTINN LPGSLLHTAA YLIQDGSDAE 
SDSDDPSYAP KDDSPDEVPS TFTVQQPPPS RRRKMTKILC KWKKADLTVQ PVAGRVTAPP 
NDFFTVMRTP TEILELFLDD EVIELIVKYS NLYACSKGVH LGLTSSEFKC FLGIIFLSGY 
VSVPRRRMFW EQRTDVHNVL VSAAMRRDRF ETIFSNLHVA DNANLDPVDK FSKLRPLISK 
LNERCMKFVP NETYFSFDEF MVPYFGRHGC KQFIRGKPIR FGYKFWCGAT CLGYICWFQP 
YQGKNPNTKH EEYGVGASLV LQFSEALTEA HPGQYHFVFN NFFTSIALLD KLSSMGHQAT 
GTVRKDHIDR VPLESDVALK KKERGTFDYR IDGKGNIVCR WNDNSVVTVA SSGAGIHPLC 
LVSRYSQKLK KKIQVQQPNM IKVYNQFMGG VDRADENIDK YRASIRGKKW YSSPLLFCFE 
LVLQNAWQLH KTYDEKPVDF LEFRRRVVCH YLETHGHPPE PGQKGRPQKR NIDSRYDGIN 
HVIVKQGKQT RCAECHKNTT FRCEKCDVAL HVKCSVEYHT E

Genular Protein ID: 2740753513

Symbol: Q59FF6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59FF6

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 2 InterPro 7 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PROSITE 4 PeptideAtlas 1 Pfam 2 RefSeq 1 SAM 1 SMART 1 SMR 1 SUPFAM 1

Citations:

PubMed ID: 30753618

Title: Structural basis of ubiquitin recognition by the winged-helix domain of Cockayne syndrome group B protein.

PubMed ID: 30753618

DOI: 10.1093/nar/gkz081

Sequence Information:

  • Length: 870
  • Mass: 98105
  • Checksum: 83542715C9C37ABA
  • Sequence:
    • QQPFHRHLLM TTALHSEKLI RDVAHCHGIL ITSYSYIRLM QDDISRYDWH YVILDEGHKI 
RNPNAAVTLA CKQFRTPHRI ILSGSPMQNN LRELWSLFDF IFPGKLGTLP VFMEQFSVPI 
TMGGYSNASP VQVKTAYKCA CVLRDTINPY LLRRMKSDVK MSLSLPDKNE QIFSGLIALR 
KICNHPDLFS GGPKNLKGLP DDELEEDQFG YWKRSGKMIV VESLLKIWHK QGQRVLLFSQ 
SRQMLDILEV FLRAQKYTYL KMDGTTTIAS RQPLITRYNE DTSIFVFLLT TRVGGLGVNL 
TGANRVVIYD PDWNPSTDTQ ARERAWRIGQ KKQVTVYRLL TAGTIEEKIY HRQIFKQFLT 
NRVLKDPKQR RFFKSNDLYE LFTLTSPDAS QSTETSAIFA GTGSDVQTPK CHLKRRIQPA 
FGADHDVPKR KKFPASNISV NDATSSEEKS EAKGAEVNAV TSNRSDPLKD DPHVSSNVTS 
NDRLGEETNA VSGPEELSVI SGNGECSNSS GTGKTSMPSG DESIDEKLGL SYKRERPSQA 
QTEAFWENKQ MENNFYKHKS KTKHHSVAEE ETLEKHLRPK QKPKNSKHCG DAKFEGTRIP 
HLVKKRRYQK QDSENKSEAK EQSNDDYVLE KLFKKSVGVH SVMKHDAIMD GASPDYVLVE 
AEANRVAQDA LKALRLSRQR CLGAVSGVPT WTGHRGISGA PAGKKSRFGK KRNSNFSVQH 
PSSTSPTEKC QDGIMKKEGK DNVPEHFSGR AEDADSSSGP LASSSLLAKM RARNHLILPE 
RLESESGHLR EASALLPTTE HDDLLVEMRN FIAFQAHTDG QASTREILQE FESKLSASQS 
CVFRELLRNL CTFHRTSGGE GIWKLKPEYC

Genular Protein ID: 1905480800

Symbol: A8K4Q3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8K4Q3

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 4 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 RefSeq 2 SAM 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 1061
  • Mass: 119459
  • Checksum: AB6696AED3FC0D94
  • Sequence:
    • MPNEGIPHSS QTQEQDCLQS QPVSNNEEMA IKQESGGDGE VEEYLSFRSV GDGLSTSAVG 
CASAAPRRGP ALLHIDRHQI QAVEPSAQAL ELQGLGVDVY DQDVLEQGVL QQVDNAIHEA 
SRASQLVDVE KEYRSVLDDL TSCTTSLRQI NKIIEQLSPQ AATSRDINRK LDSVKRQKYN 
KEQQLKKITA KQKHLQAILG GAEVKIELDH ASLEEDAEPG PSSLGSMLMP VQETAWEELI 
RTGQMTPFGT QIPQKQEKKP RKIMLNEASG FEKYLADQAK LSFERKKQGC NKRAARKAPA 
PVTPPAPVQN KNKPNKKARV LSKKEERLKK HIKKLQKRAL QFQGKVGLPK ARRPWESDMR 
PEAEGDSEGE ESEYFPTEEE EEEEDDEVEG AEADLSGDGT DYELKPLPKG GKRQKKVPVQ 
EIDDDFFPSS GEEAEAASVG EGGGGGRKVG RYRDDGDEDY YKQRLSPKMP RTLSLHEITD 
LLETDDSIEA SAIVIQPPEN ATAPVSDEES GDEEGGTINN LPGSLLHTAA YLIQDGSDAE 
SDSDDPSYAP KDDSPDEVPS TFTVQQPPPS RRRKMTKILC KWKKADLTVQ PVAGRVTAPP 
NDFFTVMRTP TEILELFLDD EVIELIVKYS NLYACSKGVH LGLTSSEFKC FLGIIFLSGY 
VSVPRRRMFW EQRTDVHNVL VSAAMRRDRF ETIFSNLHVA DNANLDPVDK FSKLRPLISK 
LNERCMKFVP NETYFSFDEF MVPYFGRHGC KQFIRGKPIR FGYKFWCGAT CLGYICWFQP 
YQGKNPNTKH EEYGVGASLV LQFSEALTEA HPGQYHFVFN NFFTSIALLD KLSSMGHQAT 
GTVRKDHIDK VPLESDVALK KKERGTFDYR IDGKGNIVCR WNDNSVVTVA SSGAGIHPLC 
LVSRYSQKLK KKIQVQQPNM IKVYNQFMGG VDRADENIDK YRASIRGKKW YSSPLLFCFE 
LVLQNAWQLH KTYDEKPVDF LEFRRRVVCH YLETHGHPPE PGQKGRPQKR NIDSRYDGIN 
HVIVKQGKQT RCAECHKNTT FRCEKCDVAL HVKCSVEYHT E

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.