Details for: ERCC4

Gene ID: 2072

Symbol: ERCC4

Ensembl ID: ENSG00000175595

Description: ERCC excision repair 4, endonuclease 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: 123.9511
    Cell Significance Index: -19.2800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 73.2919
    Cell Significance Index: -18.5900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 41.9070
    Cell Significance Index: -17.0300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 38.6675
    Cell Significance Index: -19.8900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 17.9211
    Cell Significance Index: -17.1100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.7159
    Cell Significance Index: -20.6100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.3091
    Cell Significance Index: -19.5800
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 5.6115
    Cell Significance Index: 92.4700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.2762
    Cell Significance Index: -20.8200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.2852
    Cell Significance Index: -7.1900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6307
    Cell Significance Index: 126.5200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6289
    Cell Significance Index: 68.4100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6090
    Cell Significance Index: 36.5600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5798
    Cell Significance Index: 94.3100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5184
    Cell Significance Index: 32.6700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5082
    Cell Significance Index: 50.2700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3541
    Cell Significance Index: 244.9100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3426
    Cell Significance Index: 67.9900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3351
    Cell Significance Index: 46.0200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3327
    Cell Significance Index: 8.9200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3113
    Cell Significance Index: 21.5300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2775
    Cell Significance Index: 99.5400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2526
    Cell Significance Index: 137.9300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2457
    Cell Significance Index: 5.3800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2287
    Cell Significance Index: 26.6500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2146
    Cell Significance Index: 94.8600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1971
    Cell Significance Index: 8.7200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1853
    Cell Significance Index: 13.1100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1691
    Cell Significance Index: 30.4800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1637
    Cell Significance Index: 6.2000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1612
    Cell Significance Index: 7.5200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1574
    Cell Significance Index: 3.4100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1505
    Cell Significance Index: 3.7600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1465
    Cell Significance Index: 11.2500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1243
    Cell Significance Index: 3.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1184
    Cell Significance Index: 15.1800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1047
    Cell Significance Index: 5.8800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0769
    Cell Significance Index: 2.1500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0612
    Cell Significance Index: 3.1800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0405
    Cell Significance Index: 4.9800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0121
    Cell Significance Index: 22.8300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0084
    Cell Significance Index: 0.5400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0080
    Cell Significance Index: 7.2200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0048
    Cell Significance Index: 8.9200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0041
    Cell Significance Index: 0.7000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0037
    Cell Significance Index: 5.7300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0006
    Cell Significance Index: -0.3600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0022
    Cell Significance Index: -0.0300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0041
    Cell Significance Index: -3.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0090
    Cell Significance Index: -4.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0093
    Cell Significance Index: -12.6900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0127
    Cell Significance Index: -1.5000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0132
    Cell Significance Index: -0.6000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0185
    Cell Significance Index: -3.5300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0208
    Cell Significance Index: -15.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0216
    Cell Significance Index: -16.0300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0242
    Cell Significance Index: -1.2700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0331
    Cell Significance Index: -0.8700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0340
    Cell Significance Index: -19.1800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0372
    Cell Significance Index: -5.4100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0376
    Cell Significance Index: -23.4500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0399
    Cell Significance Index: -2.4500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0432
    Cell Significance Index: -1.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0465
    Cell Significance Index: -4.7500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0549
    Cell Significance Index: -15.7900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0676
    Cell Significance Index: -1.4400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0780
    Cell Significance Index: -0.9300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0819
    Cell Significance Index: -3.8500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0837
    Cell Significance Index: -4.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0903
    Cell Significance Index: -6.0800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1042
    Cell Significance Index: -3.6600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1063
    Cell Significance Index: -13.7300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1086
    Cell Significance Index: -22.8700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1111
    Cell Significance Index: -12.7300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1198
    Cell Significance Index: -2.0100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1358
    Cell Significance Index: -10.1200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1398
    Cell Significance Index: -2.9000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1639
    Cell Significance Index: -4.4600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1672
    Cell Significance Index: -3.5000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1853
    Cell Significance Index: -5.9400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1897
    Cell Significance Index: -19.7500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1996
    Cell Significance Index: -3.4200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2004
    Cell Significance Index: -5.1200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2083
    Cell Significance Index: -16.5000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2682
    Cell Significance Index: -3.9600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2904
    Cell Significance Index: -6.7100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2919
    Cell Significance Index: -8.3300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2978
    Cell Significance Index: -8.7500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3156
    Cell Significance Index: -6.7500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3182
    Cell Significance Index: -8.1800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3381
    Cell Significance Index: -20.7300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3389
    Cell Significance Index: -9.0700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3501
    Cell Significance Index: -7.4300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3784
    Cell Significance Index: -12.3900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3809
    Cell Significance Index: -12.1300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3914
    Cell Significance Index: -4.8600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3936
    Cell Significance Index: -9.4400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4198
    Cell Significance Index: -12.3700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4242
    Cell Significance Index: -14.8600

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:** 1. **Function:** ERCC4 is a catalytic subunit of the ERCC1-XPF endonuclease complex, which excises DNA damage and repairs DSBs through homologous recombination or non-homologous end joining. 2. **Expression:** ERCC4 is widely expressed in various cell types, including germ cells, cardiac muscle myoblasts, and intestinal crypt stem cells. 3. **Protein Structure:** ERCC4 is a 48-kDa protein that belongs to the XPF family of endonucleases. 4. **Regulation:** ERCC4 is regulated by various factors, including UV radiation, which can induce its expression and activation. **Pathways and Functions:** 1. **Nucleotide-Excision Repair (NER):** ERCC4 plays a central role in the NER pathway, which is responsible for removing damaged DNA segments and restoring genomic integrity. 2. **Double-Strand Break Repair:** ERCC4 is involved in the repair of DSBs through homologous recombination or non-homologous end joining. 3. **DNA Damage Response:** ERCC4 is activated in response to DNA damage, including UV radiation, and plays a critical role in the cellular response to DNA damage. 4. **Telomere Maintenance:** ERCC4 is involved in the regulation of telomerase activity and telomere lengthening, which is essential for maintaining genome stability. **Clinical Significance:** 1. **Cancer:** Mutations in ERCC4 have been associated with various types of cancer, including breast, lung, and colon cancer. 2. **Genomic Instability:** Dysfunction in ERCC4 can lead to genomic instability, which can result in cancer and other diseases. 3. **Aging and Age-Related Diseases:** ERCC4 is involved in the regulation of telomere lengthening, which is essential for maintaining genome stability and preventing aging-related diseases. 4. **Radiation Therapy:** ERCC4 is activated in response to radiation, which can lead to DNA damage and genomic instability. Understanding the role of ERCC4 in radiation therapy can help develop more effective treatment strategies. In conclusion, ERCC4 is a critical gene involved in DNA repair and genome stability. Its dysfunction can lead to genomic instability, cancer, and other diseases. Further research is needed to understand the mechanisms of ERCC4 and its role in various diseases, which can lead to the development of new therapeutic strategies.

Genular Protein ID: 2802708318

Symbol: XPF_HUMAN

Name: DNA repair endonuclease XPF

UniProtKB Accession Codes:

Q92889 A5PKV6 A8K111 O00140 Q8TD83

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 1 ChEMBL 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 2 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 29 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 1 SIGNOR 1 SMART 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: 8887684

Title: ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs.

PubMed ID: 8887684

DOI: 10.1128/mcb.16.11.6553

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

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: 8797827

Title: Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.

PubMed ID: 8797827

DOI: 10.1016/s0092-8674(00)80155-5

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: 10413517

Title: Domain mapping of the DNA binding, endonuclease, and ERCC1 binding properties of the human DNA repair protein XPF.

PubMed ID: 10413517

DOI: 10.1021/bi990591+

PubMed ID: 11790111

Title: Contribution of XPF functional domains to the 5' and 3' incisions produced at the site of a psoralen interstrand cross-link.

PubMed ID: 11790111

DOI: 10.1021/bi011614z

PubMed ID: 19596235

Title: Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair.

PubMed ID: 19596235

DOI: 10.1016/j.cell.2009.06.030

PubMed ID: 19596236

Title: Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases.

PubMed ID: 19596236

DOI: 10.1016/j.cell.2009.06.029

PubMed ID: 19595721

Title: Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair.

PubMed ID: 19595721

DOI: 10.1016/j.molcel.2009.06.020

PubMed ID: 19595722

Title: Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination.

PubMed ID: 19595722

DOI: 10.1016/j.molcel.2009.06.019

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: 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: 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: 9485007

Title: Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans.

PubMed ID: 9485007

PubMed ID: 9580660

Title: Characterization of molecular defects in Xeroderma pigmentosum group F in relation to its clinically mild symptoms.

PubMed ID: 9580660

DOI: 10.1093/hmg/7.6.969

PubMed ID: 9579555

Title: Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.

PubMed ID: 9579555

DOI: 10.1046/j.1523-1747.1998.00171.x

PubMed ID: 10479728

Title: Polymorphisms in the human DNA repair gene XPF.

PubMed ID: 10479728

DOI: 10.1016/s1383-5726(99)00008-4

PubMed ID: 17183314

Title: A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.

PubMed ID: 17183314

DOI: 10.1038/nature05456

PubMed ID: 23623386

Title: Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

PubMed ID: 23623386

DOI: 10.1016/j.ajhg.2013.04.002

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

PubMed ID: 24027083

Title: Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

PubMed ID: 24027083

DOI: 10.1002/humu.22438

Sequence Information:

  • Length: 916
  • Mass: 104486
  • Checksum: C58CDE900378CCA8
  • Sequence:
    • MESGQPARRI AMAPLLEYER QLVLELLDTD GLVVCARGLG ADRLLYHFLQ LHCHPACLVL 
VLNTQPAEEE YFINQLKIEG VEHLPRRVTN EITSNSRYEV YTQGGVIFAT SRILVVDFLT 
DRIPSDLITG ILVYRAHRII ESCQEAFILR LFRQKNKRGF IKAFTDNAVA FDTGFCHVER 
VMRNLFVRKL YLWPRFHVAV NSFLEQHKPE VVEIHVSMTP TMLAIQTAIL DILNACLKEL 
KCHNPSLEVE DLSLENAIGK PFDKTIRHYL DPLWHQLGAK TKSLVQDLKI LRTLLQYLSQ 
YDCVTFLNLL ESLRATEKAF GQNSGWLFLD SSTSMFINAR ARVYHLPDAK MSKKEKISEK 
MEIKEGEETK KELVLESNPK WEALTEVLKE IEAENKESEA LGGPGQVLIC ASDDRTCSQL 
RDYITLGAEA FLLRLYRKTF EKDSKAEEVW MKFRKEDSSK RIRKSHKRPK DPQNKERAST 
KERTLKKKKR KLTLTQMVGK PEELEEEGDV EEGYRREISS SPESCPEEIK HEEFDVNLSS 
DAAFGILKEP LTIIHPLLGC SDPYALTRVL HEVEPRYVVL YDAELTFVRQ LEIYRASRPG 
KPLRVYFLIY GGSTEEQRYL TALRKEKEAF EKLIREKASM VVPEEREGRD ETNLDLVRGT 
ASADVSTDTR KAGGQEQNGT QQSIVVDMRE FRSELPSLIH RRGIDIEPVT LEVGDYILTP 
EMCVERKSIS DLIGSLNNGR LYSQCISMSR YYKRPVLLIE FDPSKPFSLT SRGALFQEIS 
SNDISSKLTL LTLHFPRLRI LWCPSPHATA ELFEELKQSK PQPDAATALA ITADSETLPE 
SEKYNPGPQD FLLKMPGVNA KNCRSLMHHV KNIAELAALS QDELTSILGN AANAKQLYDF 
IHTSFAEVVS KGKGKK

Genular Protein ID: 1868716255

Symbol: B4DXD8_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DXD8

Database IDs:

ARBA 1 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 2 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 RefSeq 1 SAM 1 SMART 2 SUPFAM 2

Sequence Information:

  • Length: 466
  • Mass: 52842
  • Checksum: 70DB1C4D44A280F9
  • Sequence:
    • MKFRKEDSSK RIRKSHKRPK DPQNKERAST KERTLKKKKR KLTLTQMVGK PEELEEEGDV 
EEGYRREISS SPESCPEEIK HEEFDVNLSS DAAFGILKEP LTIIHPLLGC SDPYALTRVL 
HEVEPRYVVL YDAELTFVRQ LEIYRASRPG KPLRVYFLIY GGSTEEQRYL TALRKEKEAF 
EKLIREKASM VVPEEREGRD ETNLDLVRGT ASADVSTDTR KAGGQEQNGT QQSIVVDMRE 
FRSELPSLIH RRGIDIEPVT LEVGDYILTP EMCVERKSIS DLIGSLNNGR LYSQCISMSR 
YYKRPVLLIE FDPSKPFSLT SRGALFQEIS SNDISSKLTL LTLHFPRLRI LWCPSPHATA 
ELFEELKQSK PQPDAATALA ITADSETLPE SEKYNPGPQD FLLKMPGVNA KNCRSLMHHV 
KNIAELAALS QDELTSILGN AANAKQLYDF IHTSFAEVVS KGKGKK

Genular Protein ID: 3234413639

Symbol: A0A804HKF9_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A804HKF9

Database IDs:

ARBA 3 AlphaFoldDB 1 Bgee 1 CDD 1 CTD 1 DisGeNET 1 EMBL 1 Ensembl 2 GO 4 Gene3D 2 GeneTree 1 HGNC 1 InterPro 5 NCBI Taxonomy 1 NCBIfam 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMART 2 SMR 1 SUPFAM 2

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

Sequence Information:

  • Length: 962
  • Mass: 109645
  • Checksum: B18BEFEA803BC624
  • Sequence:
    • MESGQPARRI AMAPLLEYER QLVLELLDTD GLVVCARGLG ADRLLYHFLQ LHCHPACLVL 
VLNTQPAEEE YFINQLKIEG VEHLPRRVTN EITSNSRYEV YTQGGVIFAT SRILVVDFLT 
DRIPSDLITE ILPLTCQKHP TPGPVPSLSP QPGSLELSWP RWSQGSIQPL FRYHLGILVY 
RAHRIIESCQ EAFILRLFRQ KNKRGFIKAF TDNAVAFDTG FCHVERVMRN LFVRKLYLWP 
RFHVAVNSFL EQHKPEVVEI HVSMTPTMLA IQTAILDILN ACLKELKCHN PSLEVEDLSL 
ENAIGKPFDK TIRHYLDPLW HQLGAKTKSL VQDLKILRTL LQYLSQYDCV TFLNLLESLR 
ATEKAFGQNS GWLFLDSSTS MFINARARVY HLPDAKMSKK EKISEKMEIK EGEETKKELV 
LESNPKWEAL TEVLKEIEAE NKESEALGGP GQVLICASDD RTCSQLRDYI TLGAEAFLLR 
LYRKTFEKDS KAEEVWMKFR KEDSSKRIRK SHKRPKDPQN KERASTKERT LKKKKRKLTL 
TQMVGKPEEL EEEGDVEEGY RREISSSPES CPEEIKHEEF DVNLSSDAAF GILKEPLTII 
HPLLGCSDPY ALTRVLHEVE PRYVVLYDAE LTFVRQLEIY RASRPGKPLR VYFLIYGGST 
EEQRYLTALR KEKEAFEKLI REKASMVVPE EREGRDETNL DLVRGTASAD VSTDTRKAGG 
QEQNGTQQSI VVDMREFRSE LPSLIHRRGI DIEPVTLEVG DYILTPEMCV ERKSISDLIG 
SLNNGRLYSQ CISMSRYYKR PVLLIEFDPS KPFSLTSRGA LFQEISSNDI SSKLTLLTLH 
FPRLRILWCP SPHATAELFE ELKQSKPQPD AATALAITAD SETLPESEKY NPGPQDFLLK 
MPGVNAKNCR SLMHHVKNIA ELAALSQDEL TSILGNAANA KQLYDFIHTS FAEVVSKGKG 
KK

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.