Details for: ERCC5

Gene ID: 2073

Symbol: ERCC5

Ensembl ID: ENSG00000134899

Description: ERCC excision repair 5, endonuclease

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: 106.3999
    Cell Significance Index: -16.5500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 67.1021
    Cell Significance Index: -17.0200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 40.7377
    Cell Significance Index: -16.5500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 38.6764
    Cell Significance Index: -18.2600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 36.1013
    Cell Significance Index: -18.5700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 17.6173
    Cell Significance Index: -16.8200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.1205
    Cell Significance Index: -17.4100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.2446
    Cell Significance Index: -19.1800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.9802
    Cell Significance Index: -16.0200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.7114
    Cell Significance Index: -12.5000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.5083
    Cell Significance Index: -17.7900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3030
    Cell Significance Index: 261.3800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.8711
    Cell Significance Index: 38.5300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.8300
    Cell Significance Index: 31.4300
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.7813
    Cell Significance Index: 18.0500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7501
    Cell Significance Index: 269.0300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.6869
    Cell Significance Index: 6.3300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.6835
    Cell Significance Index: 35.6000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6801
    Cell Significance Index: 122.6100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6673
    Cell Significance Index: 72.5900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.6088
    Cell Significance Index: 14.6000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.5889
    Cell Significance Index: 169.4500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5810
    Cell Significance Index: 71.4400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5610
    Cell Significance Index: 34.4800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.5410
    Cell Significance Index: 6.7100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.5144
    Cell Significance Index: 11.0000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4143
    Cell Significance Index: 23.2500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3915
    Cell Significance Index: 353.5100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3674
    Cell Significance Index: 25.4100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.3430
    Cell Significance Index: 17.3300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2968
    Cell Significance Index: 8.5500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2875
    Cell Significance Index: 22.0700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2678
    Cell Significance Index: 36.7700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2595
    Cell Significance Index: 42.2100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.2197
    Cell Significance Index: 3.5300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1899
    Cell Significance Index: 18.7900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1588
    Cell Significance Index: 86.7100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1536
    Cell Significance Index: 4.1200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1117
    Cell Significance Index: 3.2800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1099
    Cell Significance Index: 2.3800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0831
    Cell Significance Index: 5.2400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0642
    Cell Significance Index: 2.9100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0600
    Cell Significance Index: 7.6900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0492
    Cell Significance Index: 1.7300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0436
    Cell Significance Index: 8.3000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0424
    Cell Significance Index: 5.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0093
    Cell Significance Index: 0.2600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0085
    Cell Significance Index: -15.9800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0086
    Cell Significance Index: -15.7900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0093
    Cell Significance Index: -7.0500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0103
    Cell Significance Index: -15.8600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0131
    Cell Significance Index: -17.7600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0142
    Cell Significance Index: -0.3800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0153
    Cell Significance Index: -6.7600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0177
    Cell Significance Index: -13.1100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0195
    Cell Significance Index: -1.9900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0221
    Cell Significance Index: -16.2200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0268
    Cell Significance Index: -15.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0272
    Cell Significance Index: -17.3000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0294
    Cell Significance Index: -18.3600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0379
    Cell Significance Index: -17.2200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0440
    Cell Significance Index: -1.4100
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.0496
    Cell Significance Index: -0.5000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0543
    Cell Significance Index: -2.5300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0630
    Cell Significance Index: -10.7500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0657
    Cell Significance Index: -3.0900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0660
    Cell Significance Index: -1.3700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0780
    Cell Significance Index: -9.0900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0789
    Cell Significance Index: -1.6800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0855
    Cell Significance Index: -18.0000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0915
    Cell Significance Index: -18.1500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0974
    Cell Significance Index: -2.4400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1022
    Cell Significance Index: -2.9300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1110
    Cell Significance Index: -16.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1299
    Cell Significance Index: -14.8800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1340
    Cell Significance Index: -17.3100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1498
    Cell Significance Index: -3.9400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1507
    Cell Significance Index: -7.8300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1531
    Cell Significance Index: -8.0400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1739
    Cell Significance Index: -18.1100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1843
    Cell Significance Index: -11.3000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1911
    Cell Significance Index: -4.1900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2046
    Cell Significance Index: -13.2000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2100
    Cell Significance Index: -14.8500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2231
    Cell Significance Index: -17.6700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2284
    Cell Significance Index: -1.3800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2301
    Cell Significance Index: -17.1500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2310
    Cell Significance Index: -2.8800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2381
    Cell Significance Index: -3.9900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2588
    Cell Significance Index: -4.4800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2687
    Cell Significance Index: -18.0700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2943
    Cell Significance Index: -2.4000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2960
    Cell Significance Index: -9.6900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3053
    Cell Significance Index: -7.8000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3066
    Cell Significance Index: -3.8700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3164
    Cell Significance Index: -11.0000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3394
    Cell Significance Index: -9.0800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3441
    Cell Significance Index: -9.3700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3462
    Cell Significance Index: -7.4800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3479
    Cell Significance Index: -7.2600

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** ERCC5 is a DNA repair protein that belongs to the excision repair family. It is a type II endonuclease that recognizes and cleaves DNA at specific sequences, allowing for the removal of damaged DNA segments. The ERCC5 protein is composed of two subunits, ERCC5A and ERCC5B, which are encoded by separate genes. ERCC5A is the catalytic subunit, while ERCC5B is involved in the regulation of the enzyme's activity. The ERCC5 protein exhibits a high degree of specificity for damaged DNA sequences, including those resulting from UV light exposure. **Pathways and Functions** ERCC5 is involved in several DNA repair pathways, including: 1. **Nucleotide-excision repair (NER)**: ERCC5 is a key component of the NER pathway, which is responsible for removing damaged DNA segments. The ERCC5 protein recognizes and cleaves DNA at specific sequences, allowing for the removal of damaged DNA segments. 2. **Base-excision repair**: ERCC5 is also involved in the base-excision repair pathway, which is responsible for repairing damaged bases in DNA. 3. **Double-strand break repair via homologous recombination**: ERCC5 has been shown to interact with other proteins involved in the homologous recombination pathway, which is responsible for repairing double-strand breaks in DNA. ERCC5 is also involved in the regulation of catalytic activity and the formation of incision complexes in the NER pathway. The ERCC5 protein exhibits a high degree of specificity for damaged DNA sequences, including those resulting from UV light exposure. **Clinical Significance** Dysregulation of the ERCC5 gene has been linked to various diseases, including: 1. **Xeroderma pigmentosum (XP)**: XP is a rare genetic disorder characterized by an inability to repair UV-induced DNA damage. Patients with XP are highly susceptible to skin cancers and other UV-related disorders. 2. **Cockayne syndrome**: Cockayne syndrome is a rare genetic disorder characterized by an inability to repair UV-induced DNA damage. Patients with Cockayne syndrome exhibit a range of symptoms, including growth retardation, neurological impairment, and an increased risk of skin cancers. 3. **Basal cell carcinoma**: Basal cell carcinoma is a type of skin cancer that is highly prevalent in individuals with XP or Cockayne syndrome. In addition to its role in disease, ERCC5 is also an important target for cancer therapy. Inhibitors of ERCC5 have been shown to be effective in treating certain types of cancer, including basal cell carcinoma and other skin cancers. In conclusion, the ERCC5 gene plays a crucial role in the repair of DNA damage caused by various forms of mutagenesis. Its dysregulation has been linked to various diseases, including XP, Cockayne syndrome, and basal cell carcinoma. Further research is needed to fully understand the role of ERCC5 in human disease and to develop effective therapeutic strategies for targeting this gene.

Genular Protein ID: 3555625771

Symbol: ERCC5_HUMAN

Name: DNA repair protein complementing XP-G cells

UniProtKB Accession Codes:

P28715 A6NGT4 Q5JUS4 Q5JUS5 Q7Z2V3 Q8IZL6 Q8N1B7 Q9HD59 Q9HD60

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 8 ChEMBL 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 25 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 23 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PIR 2 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8483504

Title: Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2.

PubMed ID: 8483504

DOI: 10.1038/363182a0

PubMed ID: 7510366

Title: An ERCC5 gene with homology to yeast RAD2 is involved in group G Xeroderma pigmentosum.

PubMed ID: 7510366

DOI: 10.1016/0921-8777(94)90080-9

PubMed ID: 8413238

Title: Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe.

PubMed ID: 8413238

DOI: 10.1128/mcb.13.10.6393-6402.1993

PubMed ID: 11266544

Title: The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.

PubMed ID: 11266544

DOI: 10.1093/nar/29.7.1443

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 8088806

Title: The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization.

PubMed ID: 8088806

DOI: 10.1006/geno.1994.1261

PubMed ID: 8206890

Title: Isolation of active recombinant XPG protein, a human DNA repair endonuclease.

PubMed ID: 8206890

DOI: 10.1016/s0021-9258(17)33956-x

PubMed ID: 8090225

Title: XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair.

PubMed ID: 8090225

DOI: 10.1038/371432a0

PubMed ID: 8078765

Title: Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease.

PubMed ID: 8078765

DOI: 10.1093/nar/22.16.3312

PubMed ID: 7651464

Title: XPG protein has a structure-specific endonuclease activity.

PubMed ID: 7651464

DOI: 10.1016/0165-7992(95)90070-5

PubMed ID: 9305916

Title: The DNA repair endonuclease XPG binds to proliferating cell nuclear antigen (PCNA) and shares sequence elements with the PCNA-binding regions of FEN-1 and cyclin-dependent kinase inhibitor p21.

PubMed ID: 9305916

DOI: 10.1074/jbc.272.39.24522

PubMed ID: 9927729

Title: Nucleotide excision repair 3' endonuclease XPG stimulates the activity of base excision repair enzyme thymine glycol DNA glycosylase.

PubMed ID: 9927729

DOI: 10.1093/nar/27.4.979

PubMed ID: 14726017

Title: The XPG story.

PubMed ID: 14726017

DOI: 10.1016/j.biochi.2003.10.014

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: 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: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 26833090

Title: Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability.

PubMed ID: 26833090

DOI: 10.1016/j.molcel.2015.12.026

PubMed ID: 31253769

Title: Structural basis of TFIIH activation for nucleotide excision repair.

PubMed ID: 31253769

DOI: 10.1038/s41467-019-10745-5

PubMed ID: 26812207

Title: Structural and Calorimetric Studies Demonstrate that Xeroderma Pigmentosum Type G (XPG) Can Be Imported to the Nucleus by a Classical Nuclear Import Pathway via a Monopartite NLS Sequence.

PubMed ID: 26812207

DOI: 10.1016/j.jmb.2016.01.019

PubMed ID: 32821917

Title: The crystal structure of human XPG, the xeroderma pigmentosum group G endonuclease, provides insight into nucleotide excision DNA repair.

PubMed ID: 32821917

DOI: 10.1093/nar/gkaa688

PubMed ID: 32522879

Title: Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations.

PubMed ID: 32522879

DOI: 10.1073/pnas.1921311117

PubMed ID: 24700531

Title: A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

PubMed ID: 24700531

DOI: 10.1002/ajmg.a.36506

PubMed ID: 7951246

Title: Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient.

PubMed ID: 7951246

DOI: 10.1093/hmg/3.6.963

PubMed ID: 9096355

Title: A common mutational pattern in Cockayne syndrome patients from Xeroderma pigmentosum group G: implications for a second XPG function.

PubMed ID: 9096355

DOI: 10.1073/pnas.94.7.3116

PubMed ID: 17179216

Title:

PubMed ID: 17179216

DOI: 10.1073/pnas.0609759103

PubMed ID: 11228268

Title: Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

PubMed ID: 11228268

DOI: 10.1203/00006450-200103000-00016

PubMed ID: 11841555

Title: The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.

PubMed ID: 11841555

DOI: 10.1046/j.0022-202x.2001.01673.x

PubMed ID: 12060391

Title: Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

PubMed ID: 12060391

DOI: 10.1046/j.1523-1747.2002.01782.x

PubMed ID: 23255472

Title: Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

PubMed ID: 23255472

DOI: 10.1002/humu.22259

PubMed ID: 30533531

Title: TPP2 mutation associated with sterile brain inflammation mimicking MS.

PubMed ID: 30533531

DOI: 10.1212/nxg.0000000000000285

Sequence Information:

  • Length: 1186
  • Mass: 133108
  • Checksum: B0A844D617C53F2E
  • Sequence:
    • MGVQGLWKLL ECSGRQVSPE ALEGKILAVD ISIWLNQALK GVRDRHGNSI ENPHLLTLFH 
RLCKLLFFRI RPIFVFDGDA PLLKKQTLVK RRQRKDLASS DSRKTTEKLL KTFLKRQAIK 
TAFRSKRDEA LPSLTQVRRE NDLYVLPPLQ EEEKHSSEEE DEKEWQERMN QKQALQEEFF 
HNPQAIDIES EDFSSLPPEV KHEILTDMKE FTKRRRTLFE AMPEESDDFS QYQLKGLLKK 
NYLNQHIEHV QKEMNQQHSG HIRRQYEDEG GFLKEVESRR VVSEDTSHYI LIKGIQAKTV 
AEVDSESLPS SSKMHGMSFD VKSSPCEKLK TEKEPDATPP SPRTLLAMQA ALLGSSSEEE 
LESENRRQAR GRNAPAAVDE GSISPRTLSA IKRALDDDED VKVCAGDDVQ TGGPGAEEMR 
INSSTENSDE GLKVRDGKGI PFTATLASSS VNSAEEHVAS TNEGREPTDS VPKEQMSLVH 
VGTEAFPISD ESMIKDRKDR LPLESAVVRH SDAPGLPNGR ELTPASPTCT NSVSKNETHA 
EVLEQQNELC PYESKFDSSL LSSDDETKCK PNSASEVIGP VSLQETSSIV SVPSEAVDNV 
ENVVSFNAKE HENFLETIQE QQTTESAGQD LISIPKAVEP MEIDSEESES DGSFIEVQSV 
ISDEELQAEF PETSKPPSEQ GEEELVGTRE GEAPAESESL LRDNSERDDV DGEPQEAEKD 
AEDSLHEWQD INLEELETLE SNLLAQQNSL KAQKQQQERI AATVTGQMFL ESQELLRLFG 
IPYIQAPMEA EAQCAILDLT DQTSGTITDD SDIWLFGARH VYRNFFNKNK FVEYYQYVDF 
HNQLGLDRNK LINLAYLLGS DYTEGIPTVG CVTAMEILNE FPGHGLEPLL KFSEWWHEAQ 
KNPKIRPNPH DTKVKKKLRT LQLTPGFPNP AVAEAYLKPV VDDSKGSFLW GKPDLDKIRE 
FCQRYFGWNR TKTDESLFPV LKQLDAQQTQ LRIDSFFRLA QQEKEDAKRI KSQRLNRAVT 
CMLRKEKEAA ASEIEAVSVA MEKEFELLDK AKGKTQKRGI TNTLEESSSL KRKRLSDSKG 
KNTCGGFLGE TCLSESSDGS SSEDAESSSL MNVQRRTAAK EPKTSASDSQ NSVKEAPVKN 
GGATTSSSSD SDDDGGKEKM VLVTARSVFG KKRRKLRRAR GRKRKT

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.