Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
3.1.21.-
Hydrolases;
Acting on ester bonds;
Endodeoxyribonucleases producing 5'-phosphomonoesters;
3.1.4.1
Hydrolases;
Acting on ester bonds;
Phosphoric-diester hydrolases;
phosphodiesterase I
PDB | Resolution (Å) | PDB name |
---|---|---|
4REA | 3.81 | A Nuclease DNA complex |
4REB | 4.2 | Structural Insights into 5' Flap DNA Unwinding and Incision by the Human FAN1 Dimer |
4REC | 2.2 | A nuclease-DNA complex form 3 |
4RI8 | 2.9 | FAN1 Nuclease bound to 5' phosphorylated p(dG)/3'(dT-dT-dT-dT) double flap DNA |
4RI9 | 2.9 | FAN1 Nuclease bound to 5' phosphorylated p(dT)/3'(dT-dT-dT-dT-dT-dT-dT-dT) double flap DNA |
4RIA | 3.0 | FAN1 Nuclease bound to 5' phosphorylated nicked DNA |
4RIB | 3.25 | FAN1 Nuclease bound to 5' phosphorylated p(dT) single flap DNA |
4RIC | 2.8 | FAN1 Nuclease bound to 5' hydroxyl (dT-dT) single flap DNA |
4RID | 3.3 | Human FAN1 nuclease |
4RY3 | 2.802 | Crystal structure of human Fanconi-associated nuclease 1 |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0006281 | DNA repair |
Biological Process | GO:0000724 | double-strand break repair via homologous recombination |
Biological Process | GO:0036297 | interstrand cross-link repair |
Biological Process | GO:0006289 | nucleotide-excision repair |
Molecular Function | GO:0008409 | 5'-3' exonuclease activity |
Molecular Function | GO:0017108 | 5'-flap endonuclease activity |
Molecular Function | GO:0070336 | flap-structured DNA binding |
Molecular Function | GO:0000287 | magnesium ion binding |
Molecular Function | GO:0004528 | phosphodiesterase I activity |
Molecular Function | GO:0140036 | ubiquitin-dependent protein binding |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0045171 | intercellular bridge |
Cellular Component | GO:0005654 | nucleoplasm |
Cellular Component | GO:0005634 | nucleus |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-6783310 | Fanconi Anemia Pathway | Internal node | R-HSA-73894 | DNA Repair |
Location | ECO term | Pubmed |
---|---|---|
Nucleus | ECO:0000269 | PubMed:20603015 |
Nucleus | ECO:0000269 | PubMed:20603016 |
Nucleus | ECO:0000269 | PubMed:20603073 |
Nucleus | ECO:0000269 | PubMed:20671156 |
Nucleus | ECO:0000269 | PubMed:20935496 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000090 | Nephronophthisis |
HP:0000093 | Proteinuria |
HP:0000505 | Visual impairment |
HP:0000708 | Atypical behavior |
HP:0000716 | Depression |
HP:0000737 | Irritability |
HP:0000738 | Hallucinations |
HP:0000739 | Anxiety |
HP:0000790 | Hematuria |
HP:0001123 | Visual field defect |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001260 | Dysarthria |
HP:0001276 | Hypertonia |
HP:0001288 | Gait disturbance |
HP:0001371 | Flexion contracture |
HP:0001402 | Hepatocellular carcinoma |
HP:0001522 | Death in infancy |
HP:0001824 | Weight loss |
HP:0001970 | Tubulointerstitial nephritis |
HP:0002017 | Nausea and vomiting |
HP:0002019 | Constipation |
HP:0002024 | Malabsorption |
HP:0002027 | Abdominal pain |
HP:0002076 | Migraine |
HP:0002167 | Abnormality of speech or vocalization |
HP:0002239 | Gastrointestinal hemorrhage |
HP:0002354 | Memory impairment |
HP:0002376 | Developmental regression |
HP:0002516 | Increased intracranial pressure |
HP:0002671 | Basal cell carcinoma |
HP:0002893 | Pituitary adenoma |
HP:0002894 | Neoplasm of the pancreas |
HP:0002910 | Elevated hepatic transaminase |
HP:0003003 | Colon cancer |
HP:0003006 | Neuroblastoma |
HP:0003076 | Glycosuria |
HP:0003138 | Increased blood urea nitrogen |
HP:0003259 | Elevated circulating creatinine concentration |
HP:0003401 | Paresthesia |
HP:0003676 | Progressive |
HP:0003774 | Stage 5 chronic kidney disease |
HP:0004374 | Hemiplegia/hemiparesis |
HP:0006725 | Pancreatic adenocarcinoma |
HP:0007018 | Attention deficit hyperactivity disorder |
HP:0007256 | Abnormal pyramidal sign |
HP:0010524 | Agnosia |
HP:0010526 | Dysgraphia |
HP:0010622 | Neoplasm of the skeletal system |
HP:0010786 | Urinary tract neoplasm |
HP:0012174 | Glioblastoma multiforme |
HP:0012378 | Fatigue |
HP:0032948 | Renal interstitial fibrosis |
HP:0041050 | Renal tubular cyst |
HP:0100031 | Neoplasm of the thyroid gland |
HP:0100571 | Cardiac diverticulum |
HP:0100576 | Amaurosis fugax |
HP:0100613 | Death in early adulthood |
HP:0100615 | Ovarian neoplasm |
HP:0100660 | Dyskinesia |
HP:0100743 | Neoplasm of the rectum |
HP:0100835 | Benign neoplasm of the central nervous system |
HP:0200008 | Intestinal polyposis |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
lynch syndrome | MONDO:0005835 | D48 | chapter2, Neoplasms | Orphanet:144 | |
karyomegalic interstitial nephritis | MONDO:0013898 | N11 | chapter14, Diseases of the genitourinary system | OMIM:614817 | Orphanet:401996 |