Details for: ERCC5

Gene ID: 2073

Symbol: ERCC5

Ensembl ID: ENSG00000134899

Description: ERCC excision repair 5, endonuclease

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.49
    Marker Score: 1193
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.4
    Marker Score: 13295
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.39
    Marker Score: 85312
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.38
    Marker Score: 13014
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.37
    Marker Score: 11781
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.37
    Marker Score: 50580
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.3
    Marker Score: 2012
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.29
    Marker Score: 4979
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.28
    Marker Score: 48657
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.23
    Marker Score: 24454
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.23
    Marker Score: 18375
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.23
    Marker Score: 9407
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 1.18
    Marker Score: 719
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.15
    Marker Score: 18005
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.05
    Marker Score: 4357
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 1.02
    Marker Score: 2873
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71752
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47976
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.99
    Marker Score: 699
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.97
    Marker Score: 1840.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 488
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2406
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 442
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2721
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4992
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5262
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 311
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.84
    Marker Score: 971
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.83
    Marker Score: 9620
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.8
    Marker Score: 676
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.8
    Marker Score: 1097
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.79
    Marker Score: 1540
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 0.78
    Marker Score: 1901
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.78
    Marker Score: 249
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.77
    Marker Score: 1823
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.77
    Marker Score: 324
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1254
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.77
    Marker Score: 520
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.76
    Marker Score: 1336
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 306
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 583
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.76
    Marker Score: 456
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 0.76
    Marker Score: 230
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.76
    Marker Score: 548
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.75
    Marker Score: 3164.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.74
    Marker Score: 15868
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 379
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.72
    Marker Score: 960
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.72
    Marker Score: 6313
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.69
    Marker Score: 1412
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.69
    Marker Score: 342
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 0.69
    Marker Score: 669
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.69
    Marker Score: 1009
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 620
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.66
    Marker Score: 191
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 0.66
    Marker Score: 582
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.66
    Marker Score: 34870
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.66
    Marker Score: 645.5
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 0.66
    Marker Score: 2827
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.65
    Marker Score: 808
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.62
    Marker Score: 630
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.61
    Marker Score: 302
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 0.6
    Marker Score: 1903
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.59
    Marker Score: 329
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.59
    Marker Score: 430
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 0.59
    Marker Score: 1232
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.59
    Marker Score: 507
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.58
    Marker Score: 349
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.58
    Marker Score: 359
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.58
    Marker Score: 159
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.58
    Marker Score: 423
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.57
    Marker Score: 4991
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.57
    Marker Score: 5643
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.56
    Marker Score: 279
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 0.56
    Marker Score: 377
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.56
    Marker Score: 421
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 0.55
    Marker Score: 488
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.55
    Marker Score: 350
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.54
    Marker Score: 590
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 0.54
    Marker Score: 965
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 0.54
    Marker Score: 421
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 0.54
    Marker Score: 439
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.53
    Marker Score: 469
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.53
    Marker Score: 185
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.52
    Marker Score: 5417
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.52
    Marker Score: 355
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.52
    Marker Score: 3348
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.52
    Marker Score: 274.5
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.52
    Marker Score: 401
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 0.52
    Marker Score: 258
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 0.51
    Marker Score: 483
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.51
    Marker Score: 135
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.51
    Marker Score: 220
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 0.5
    Marker Score: 217
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.5
    Marker Score: 364
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.5
    Marker Score: 264
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.5
    Marker Score: 3718

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Other Information

**Key characteristics:** * ERCC5 is a highly conserved protein with a predicted protein length of 1,061 amino acids. * It is a member of the ERCC family of endonuclease proteins, which are involved in repairing DNA damage. * ERCC5 is a multi-functional protein that can be recruited to different repair pathways depending on the DNA damage type. **Pathways and functions:** * ERCC5 is involved in both double-strand break repair (DSB repair) and nucleotide excision repair (NER). * In DSB repair, ERCC5 forms a complex with DNA ends and facilitates the repair of DSBs by removing damaged nucleotides and reconnecting the broken ends. * In NER, ERCC5 is recruited to sites of DNA damage and forms a complex with DNA repair proteins. This complex then catalyzes the excision of damaged nucleotides and the repair of the DNA damage. **Clinical significance:** * Mutations in ERCC5 have been linked to several human diseases, including neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). * Studies on ERCC5 mutations have led to the development of new therapeutic strategies for these diseases, including the use of small molecule inhibitors to block ERCC5 activity. **Additional notes:** * ERCC5 is a highly conserved protein with significant expression in the central nervous system. * It is a key regulator of DNA repair and is involved in maintaining genomic integrity. * Mutations in ERCC5 have been shown to have a significant impact on human health, highlighting its importance in maintaining genome stability and preventing the development of various diseases.

Genular Protein ID: 3555625771

Symbol: ERCC5_HUMAN

Name: DNA repair protein complementing XP-G cells

UniProtKB Accession Codes:

Database IDs:

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: 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. For the full schema, download it here.