Details for: ERCC1

Gene ID: 2067

Symbol: ERCC1

Ensembl ID: ENSG00000012061

Description: ERCC excision repair 1, endonuclease non-catalytic subunit

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: 248.5451
    Cell Significance Index: -38.6600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 120.1884
    Cell Significance Index: -30.4900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 104.6250
    Cell Significance Index: -43.1000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 92.8360
    Cell Significance Index: -43.8300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 90.4476
    Cell Significance Index: -36.7500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 82.6229
    Cell Significance Index: -42.5000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 65.4226
    Cell Significance Index: -43.9000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 39.0891
    Cell Significance Index: -37.3200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.0483
    Cell Significance Index: -41.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.4083
    Cell Significance Index: -33.2400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.8944
    Cell Significance Index: -42.9900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.5167
    Cell Significance Index: -29.2300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.2963
    Cell Significance Index: -13.7800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.3541
    Cell Significance Index: 274.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.9897
    Cell Significance Index: 92.7700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.8235
    Cell Significance Index: 1646.5100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.7649
    Cell Significance Index: 24.0800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.5073
    Cell Significance Index: 163.9500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.3121
    Cell Significance Index: 169.5100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.2331
    Cell Significance Index: 25.8100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.1549
    Cell Significance Index: 81.6800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.1158
    Cell Significance Index: 29.3400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.0931
    Cell Significance Index: 81.4700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.0768
    Cell Significance Index: 50.6100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0542
    Cell Significance Index: 171.4500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0405
    Cell Significance Index: 208.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9949
    Cell Significance Index: 27.0800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9214
    Cell Significance Index: 113.3000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9196
    Cell Significance Index: 126.2900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8272
    Cell Significance Index: 53.3700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7919
    Cell Significance Index: 142.7500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7717
    Cell Significance Index: 421.4500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7558
    Cell Significance Index: 52.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6853
    Cell Significance Index: 302.9900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.6825
    Cell Significance Index: 7.4200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5742
    Cell Significance Index: 29.8300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.5304
    Cell Significance Index: 4.2400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.5226
    Cell Significance Index: 14.9800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4967
    Cell Significance Index: 13.8800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4558
    Cell Significance Index: 15.8400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4261
    Cell Significance Index: 81.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3997
    Cell Significance Index: 8.6600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3924
    Cell Significance Index: 46.2800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3913
    Cell Significance Index: 11.2800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3543
    Cell Significance Index: 19.8800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2930
    Cell Significance Index: 105.1000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2571
    Cell Significance Index: 51.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2569
    Cell Significance Index: 6.8600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2454
    Cell Significance Index: 31.4600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2339
    Cell Significance Index: 14.7400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1451
    Cell Significance Index: 4.2600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1368
    Cell Significance Index: 2.6700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1312
    Cell Significance Index: 3.5100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1046
    Cell Significance Index: 10.3500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.1035
    Cell Significance Index: 1.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0971
    Cell Significance Index: 67.1500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0583
    Cell Significance Index: 4.4800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0577
    Cell Significance Index: 3.0300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0571
    Cell Significance Index: 0.9600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0379
    Cell Significance Index: 1.3300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0134
    Cell Significance Index: 25.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0119
    Cell Significance Index: 18.3000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0108
    Cell Significance Index: 19.9000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0004
    Cell Significance Index: -0.2600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0056
    Cell Significance Index: -0.9500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0097
    Cell Significance Index: -7.3400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0190
    Cell Significance Index: -12.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0191
    Cell Significance Index: -26.0100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0195
    Cell Significance Index: -1.9900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0410
    Cell Significance Index: -18.6100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0494
    Cell Significance Index: -36.5900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0631
    Cell Significance Index: -35.5900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0724
    Cell Significance Index: -1.8500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0736
    Cell Significance Index: -45.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1049
    Cell Significance Index: -4.6400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1168
    Cell Significance Index: -33.6000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1285
    Cell Significance Index: -7.9000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1400
    Cell Significance Index: -7.2900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1535
    Cell Significance Index: -1.8300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1683
    Cell Significance Index: -3.1100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1777
    Cell Significance Index: -25.8300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1815
    Cell Significance Index: -3.1100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1826
    Cell Significance Index: -12.2800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2078
    Cell Significance Index: -4.8000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2304
    Cell Significance Index: -48.5200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2543
    Cell Significance Index: -9.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2630
    Cell Significance Index: -30.1300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2860
    Cell Significance Index: -6.0900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3719
    Cell Significance Index: -3.8500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3880
    Cell Significance Index: -40.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3943
    Cell Significance Index: -31.2300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.4750
    Cell Significance Index: -21.5300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5006
    Cell Significance Index: -13.4200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5033
    Cell Significance Index: -16.1200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.5091
    Cell Significance Index: -10.5600
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.5229
    Cell Significance Index: -6.5900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.5565
    Cell Significance Index: -5.1300
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.5801
    Cell Significance Index: -3.5700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.6220
    Cell Significance Index: -9.3200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6227
    Cell Significance Index: -38.1800

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:** ERCC1 is a protein that belongs to the nucleotide excision repair (NER) pathway, which is responsible for repairing DNA damage caused by ultraviolet (UV) light, chemical mutagens, and other environmental stressors. The ERCC1/ERCC4 complex is a heterodimer that assembles with other NER proteins to form a complex that excises damaged DNA and repairs the resulting gaps. ERCC1 is a non-catalytic subunit, meaning it does not possess enzymatic activity, but rather interacts with the catalytic subunit ERCC4 to facilitate DNA repair. **Pathways and Functions:** ERCC1 is involved in several cellular pathways, including: 1. **DNA double-strand break repair**: ERCC1 plays a crucial role in the repair of DNA double-strand breaks, which can occur due to ionizing radiation, chemical mutagens, or viral infections. 2. **Interstrand cross-link repair**: ERCC1 is also involved in the repair of interstrand cross-links, which are complex DNA lesions that can occur due to environmental mutagens. 3. **Cell cycle regulation**: ERCC1 regulates cell cycle progression by interacting with other proteins to control the activity of cyclin-dependent kinases. 4. **Apoptosis**: ERCC1 has been implicated in the regulation of apoptosis, or programmed cell death, in response to DNA damage. 5. **Immune responses**: ERCC1 is expressed in immune cells, such as myeloid leukocytes, and has been shown to play a role in the regulation of immune responses, including the activation of natural killer cells. **Clinical Significance:** ERCC1 has significant clinical implications in cancer therapy and immunology. For example: 1. **Cancer treatment**: ERCC1 is a biomarker for resistance to platinum-based chemotherapies, which are commonly used to treat solid tumors. 2. **Immunotherapy**: ERCC1 is involved in the regulation of immune responses, and its expression can be used as a biomarker for the efficacy of immunotherapies. 3. **Genetic disorders**: Mutations in the ERCC1 gene have been associated with genetic disorders, such as Fanconi anemia, which is a rare genetic disorder characterized by bone marrow failure and increased risk of cancer. In conclusion, ERCC1 is a critical gene that plays a central role in DNA repair, cell cycle regulation, apoptosis, and immune responses. Its dysregulation has significant clinical implications in cancer therapy and immunology, highlighting the importance of understanding the molecular mechanisms underlying ERCC1 function.

Genular Protein ID: 3682969689

Symbol: ERCC1_HUMAN

Name: DNA excision repair protein ERCC-1

UniProtKB Accession Codes:

P07992 B2RC01 B3KRR0 Q7Z7F5 Q96S40

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 16 EMDB 2 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 42 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 8 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 5 RefSeq 15 SIGNOR 1 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: 2420469

Title: Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10.

PubMed ID: 2420469

DOI: 10.1016/0092-8674(86)90014-0

PubMed ID: 3034490

Title: Identification of DNA repair genes in the human genome.

PubMed ID: 3034490

DOI: 10.1101/sqb.1986.051.01.012

PubMed ID: 9360634

Title: A nucleotide polymorphism in ERCC1 in human ovarian cancer cell lines and tumor tissues.

PubMed ID: 9360634

DOI: 10.1016/s1383-5726(97)00004-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24036546

Title: ERCC1 function in nuclear excision and interstrand crosslink repair pathways is mediated exclusively by the ERCC1-202 isoform.

PubMed ID: 24036546

DOI: 10.4161/cc.26309

PubMed ID: 23514287

Title: ERCC1 isoform expression and DNA repair in non-small-cell lung cancer.

PubMed ID: 23514287

DOI: 10.1056/nejmoa1214271

PubMed ID: 25538220

Title: USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA damage responses.

PubMed ID: 25538220

DOI: 10.15252/embj.201489184

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: 32034146

Title: Acetylation of XPF by TIP60 facilitates XPF-ERCC1 complex assembly and activation.

PubMed ID: 32034146

DOI: 10.1038/s41467-020-14564-x

PubMed ID: 16076955

Title: Crystal structure and DNA binding functions of ERCC1, a subunit of the DNA structure-specific endonuclease XPF-ERCC1.

PubMed ID: 16076955

DOI: 10.1073/pnas.0504341102

PubMed ID: 16338413

Title: The structure of the human ERCC1/XPF interaction domains reveals a complementary role for the two proteins in nucleotide excision repair.

PubMed ID: 16338413

DOI: 10.1016/j.str.2005.08.014

PubMed ID: 17273966

Title: First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

PubMed ID: 17273966

DOI: 10.1086/512486

PubMed ID: 23623389

Title: Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

PubMed ID: 23623389

DOI: 10.1016/j.ajhg.2013.04.007

Sequence Information:

  • Length: 297
  • Mass: 32562
  • Checksum: 6FCE3615732349E5
  • Sequence:
    • MDPGKDKEGV PQPSGPPARK KFVIPLDEDE VPPGVAKPLF RSTQSLPTVD TSAQAAPQTY 
AEYAISQPLE GAGATCPTGS EPLAGETPNQ ALKPGAKSNS IIVSPRQRGN PVLKFVRNVP 
WEFGDVIPDY VLGQSTCALF LSLRYHNLHP DYIHGRLQSL GKNFALRVLL VQVDVKDPQQ 
ALKELAKMCI LADCTLILAW SPEEAGRYLE TYKAYEQKPA DLLMEKLEQD FVSRVTECLT 
TVKSVNKTDS QTLLTTFGSL EQLIAASRED LALCPGLGPQ KARRLFDVLH EPFLKVP

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.