Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006405 | RNA export from nucleus |
| Biological Process | GO:0051028 | mRNA transport |
| Biological Process | GO:0006913 | nucleocytoplasmic transport |
| 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:0016020 | membrane |
| Cellular Component | GO:0005635 | nuclear envelope |
| Cellular Component | GO:0005643 | nuclear pore |
| Cellular Component | GO:0044611 | nuclear pore inner 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-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-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-6784531 | tRNA processing in the nucleus | Leaf | R-HSA-8953854 | Metabolism of RNA |
| 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-9705671 | SARS-CoV-2 activates/modulates innate and adaptive immune responses | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Nucleus, nuclear pore complex | ECO:0000305 | PubMed:32275884 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000202 | Orofacial cleft |
| HP:0000218 | High palate |
| HP:0000243 | Trigonocephaly |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
| HP:0000341 | Narrow forehead |
| HP:0000369 | Low-set ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000444 | Convex nasal ridge |
| HP:0000470 | Short neck |
| HP:0000519 | Developmental cataract |
| HP:0000568 | Microphthalmia |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001518 | Small for gestational age |
| HP:0001558 | Decreased fetal movement |
| HP:0001838 | Rocker bottom foot |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002188 | Delayed CNS myelination |
| HP:0002353 | EEG abnormality |
| HP:0002553 | Highly arched eyebrow |
| HP:0002878 | Respiratory failure |
| HP:0005487 | Prominent metopic ridge |
| HP:0006610 | Wide intermamillary distance |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0011230 | Laterally extended eyebrow |
| HP:0011236 | Angulated antihelix |
| HP:0011272 | Underdeveloped tragus |
| HP:0011451 | Primary microcephaly |
| HP:0011623 | Muscular ventricular septal defect |
| HP:0011682 | Perimembranous ventricular septal defect |
| HP:0012385 | Camptodactyly |
| HP:0025325 | Sparse medial eyebrow |
| HP:0030084 | Clinodactyly |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Low | Approved |
| appendix | lymphoid tissue | Low | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | glandular cells | Low | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebellum | cells in molecular layer | Medium | Approved |
| cerebral cortex | glial cells | Low | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Low | Approved |
| cervix | glandular cells | Medium | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | Low | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | cells in endometrial stroma | Low | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Low | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | Low | Approved |
| lung | macrophages | Low | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Low | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | Low | Approved |
| placenta | decidual cells | Low | Approved |
| placenta | trophoblastic cells | Low | Approved |
| rectum | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skin 1 | keratinocytes | Low | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| stomach 1 | glandular cells | Low | Approved |
| stomach 2 | glandular cells | Low | Approved |
| testis | spermatogonia cells | Low | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | Low | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| sandestig-stefanova syndrome | MONDO:0032926 | - | - | OMIM:618804 |