Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 3CQC | 2.53 | Nucleoporin Nup107/Nup133 interaction complex |
| 3CQG | 3.0 | Nucleoporin Nup107/Nup133 interaction complex, delta finger mutant |
| 3I4R | 3.53 | Nup107(aa658-925)/Nup133(aa517-1156) complex, H.sapiens |
| 5A9Q | 23.0 | Human nuclear pore complex |
| 7PEQ | 35.0 | Model of the outer rings of the human nuclear pore complex |
| 7R5J | 50.0 | Human nuclear pore complex (dilated) |
| 7R5K | 12.0 | Human nuclear pore complex (constricted) |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0008585 | female gonad development |
| Biological Process | GO:0006406 | mRNA export from nucleus |
| Biological Process | GO:0072006 | nephron development |
| Biological Process | GO:0051292 | nuclear pore complex assembly |
| Biological Process | GO:0006913 | nucleocytoplasmic transport |
| Biological Process | GO:0000973 | post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery |
| Biological Process | GO:0006606 | protein import into nucleus |
| Molecular Function | GO:0017056 | structural constituent of nuclear pore |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0000776 | kinetochore |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005635 | nuclear envelope |
| Cellular Component | GO:0031965 | nuclear membrane |
| Cellular Component | GO:0034399 | nuclear periphery |
| Cellular Component | GO:0005643 | nuclear pore |
| Cellular Component | GO:0031080 | nuclear pore outer ring |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1169408 | ISG15 antiviral mechanism | Leaf | R-HSA-168256 | Immune System |
| R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-159227 | Transport of the SLBP independent Mature mRNA | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-159230 | Transport of the SLBP Dependant Mature mRNA | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-159231 | Transport of Mature mRNA Derived from an Intronless Transcript | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-165054 | Rev-mediated nuclear export of HIV RNA | Leaf | R-HSA-1643685 | Disease |
| R-HSA-168271 | Transport of Ribonucleoproteins into the Host Nucleus | Leaf | R-HSA-1643685 | Disease |
| R-HSA-168276 | NS1 Mediated Effects on Host Pathways | Internal node | R-HSA-1643685 | Disease |
| R-HSA-168325 | Viral Messenger RNA Synthesis | Leaf | R-HSA-1643685 | Disease |
| R-HSA-168333 | NEP/NS2 Interacts with the Cellular Export Machinery | Leaf | R-HSA-1643685 | Disease |
| R-HSA-170822 | Regulation of Glucokinase by Glucokinase Regulatory Protein | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-180746 | Nuclear import of Rev protein | Leaf | R-HSA-1643685 | Disease |
| R-HSA-180910 | Vpr-mediated nuclear import of PICs | Leaf | R-HSA-1643685 | Disease |
| R-HSA-191859 | snRNP Assembly | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-2467813 | Separation of Sister Chromatids | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-3232142 | SUMOylation of ubiquitinylation proteins | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-3301854 | Nuclear Pore Complex (NPC) Disassembly | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-3371453 | Regulation of HSF1-mediated heat shock response | Leaf | R-HSA-8953897 | Cellular responses to stimuli |
| R-HSA-4085377 | SUMOylation of SUMOylation proteins | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-4551638 | SUMOylation of chromatin organization proteins | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-4570464 | SUMOylation of RNA binding proteins | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-4615885 | SUMOylation of DNA replication proteins | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-5578749 | Transcriptional regulation by small RNAs | Leaf | R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-5619107 | Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) | Leaf | R-HSA-1643685 | Disease |
| R-HSA-5663220 | RHO GTPases Activate Formins | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-6784531 | tRNA processing in the nucleus | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-68877 | Mitotic Prometaphase | Internal node | R-HSA-1640170 | Cell Cycle |
| R-HSA-9609690 | HCMV Early Events | Leaf | R-HSA-1643685 | Disease |
| R-HSA-9610379 | HCMV Late Events | Leaf | R-HSA-1643685 | Disease |
| R-HSA-9615933 | Postmitotic nuclear pore complex (NPC) reformation | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-9648025 | EML4 and NUDC in mitotic spindle formation | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-9705671 | SARS-CoV-2 activates/modulates innate and adaptive immune responses | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Chromosome, centromere, kinetochore | ECO:0000269 | PubMed:11564755 |
| Nucleus membrane | ECO:0000269 | PubMed:11564755 |
| Nucleus membrane | ECO:0000269 | PubMed:12802065 |
| Nucleus membrane | ECO:0000269 | PubMed:15229283 |
| Nucleus membrane | ECO:0000269 | PubMed:26411495 |
| Nucleus, nuclear pore complex | ECO:0000269 | PubMed:11564755 |
| Nucleus, nuclear pore complex | ECO:0000269 | PubMed:12802065 |
| Nucleus, nuclear pore complex | ECO:0000269 | PubMed:15229283 |
| Nucleus, nuclear pore complex | ECO:0000269 | PubMed:26411495 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000013 | Hypoplasia of the uterus |
| HP:0000062 | Ambiguous genitalia |
| HP:0000092 | Renal tubular atrophy |
| HP:0000093 | Proteinuria |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000100 | Nephrotic syndrome |
| HP:0000112 | Nephropathy |
| HP:0000133 | Gonadal dysgenesis |
| HP:0000144 | Decreased fertility |
| HP:0000164 | Abnormality of the dentition |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000340 | Sloping forehead |
| HP:0000341 | Narrow forehead |
| HP:0000347 | Micrognathia |
| HP:0000365 | Hearing impairment |
| HP:0000400 | Macrotia |
| HP:0000601 | Hypotelorism |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000737 | Irritability |
| HP:0000750 | Delayed speech and language development |
| HP:0000767 | Pectus excavatum |
| HP:0000786 | Primary amenorrhea |
| HP:0000794 | IgA deposition in the glomerulus |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0000823 | Delayed puberty |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0000869 | Secondary amenorrhea |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000938 | Osteopenia |
| HP:0000954 | Single transverse palmar crease |
| HP:0000964 | Eczema |
| HP:0000969 | Edema |
| HP:0001166 | Arachnodactyly |
| HP:0001181 | Adducted thumb |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| HP:0001302 | Pachygyria |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001622 | Premature birth |
| HP:0001629 | Ventricular septal defect |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001822 | Hallux valgus |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0001945 | Fever |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0001999 | Abnormal facial shape |
| HP:0002027 | Abdominal pain |
| HP:0002036 | Hiatus hernia |
| HP:0002206 | Pulmonary fibrosis |
| HP:0002225 | Sparse pubic hair |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0002315 | Headache |
| HP:0002353 | EEG abnormality |
| HP:0002410 | Aqueductal stenosis |
| HP:0002586 | Peritonitis |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002751 | Kyphoscoliosis |
| HP:0002967 | Cubitus valgus |
| HP:0003073 | Hypoalbuminemia |
| HP:0003124 | Hypercholesterolemia |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0003828 | Variable expressivity |
| HP:0004322 | Short stature |
| HP:0004349 | Reduced bone mineral density |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0005108 | Abnormal intervertebral disk morphology |
| HP:0005625 | Osteoporosis of vertebrae |
| HP:0008197 | Absence of pubertal development |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0008214 | Decreased serum estradiol |
| HP:0008684 | Aplasia/hypoplasia of the uterus |
| HP:0009888 | Abnormality of secondary sexual hair |
| HP:0009944 | Partial duplication of thumb phalanx |
| HP:0010311 | Aplasia/Hypoplasia of the breasts |
| HP:0010464 | Streak ovary |
| HP:0010978 | Abnormality of immune system physiology |
| HP:0011947 | Respiratory tract infection |
| HP:0012579 | Minimal change glomerulonephritis |
| HP:0012622 | Chronic kidney disease |
| HP:0030084 | Clinodactyly |
| HP:0031504 | Foamy urine |
| HP:0100490 | Camptodactyly of finger |
| HP:0100539 | Periorbital edema |
| HP:0100543 | Cognitive impairment |
| HP:0100720 | Hypoplasia of the ear cartilage |
| HP:0410030 | Cleft lip |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| nephrotic syndrome, type 11 | MONDO:0014752 | N04 | chapter14, Diseases of the genitourinary system | OMIM:616730 | |
| galloway-mowat syndrome 7 | MONDO:0032692 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:618348 | |
| ovarian dysgenesis 6 | MONDO:0054850 | Q99 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:618078 |