Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006406 | mRNA export from nucleus |
| Biological Process | GO:0000278 | mitotic cell cycle |
| Biological Process | GO:0006913 | nucleocytoplasmic transport |
| Biological Process | GO:0006606 | protein import into nucleus |
| Biological Process | GO:0000055 | ribosomal large subunit export from nucleus |
| Biological Process | GO:0000056 | ribosomal small subunit export from nucleus |
| Molecular Function | GO:0017056 | structural constituent of nuclear pore |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005635 | nuclear envelope |
| Cellular Component | GO:0005643 | nuclear pore |
| Cellular Component | GO:0005654 | nucleoplasm |
| 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-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:0000269 | PubMed:30543681 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000278 | Retrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000470 | Short neck |
| HP:0000475 | Broad neck |
| HP:0000476 | Cystic hygroma |
| HP:0000878 | 11 pairs of ribs |
| HP:0001059 | Pterygium |
| HP:0001262 | Excessive daytime somnolence |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
| HP:0001838 | Rocker bottom foot |
| HP:0001989 | Fetal akinesia sequence |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0002093 | Respiratory insufficiency |
| HP:0002304 | Akinesia |
| HP:0002375 | Hypokinesia |
| HP:0002650 | Scoliosis |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0002808 | Kyphosis |
| HP:0002828 | Multiple joint contractures |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003577 | Congenital onset |
| HP:0003700 | Generalized amyotrophy |
| HP:0003811 | Neonatal death |
| HP:0005245 | Intestinal hypoplasia |
| HP:0005280 | Depressed nasal bridge |
| HP:0010489 | Absent palmar crease |
| HP:0010963 | Absence of stomach bubble on fetal sonography |
| HP:0012385 | Camptodactyly |
| HP:0025676 | Fetal pleural effusion |
| HP:0034198 | Second trimester onset |
| HP:0034241 | Prenatal death |
| HP:0100490 | Camptodactyly of finger |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Low | Approved |
| bone marrow | hematopoietic cells | High | Approved |
| breast | adipocytes | Medium | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Medium | Approved |
| caudate | neuronal cells | High | Approved |
| cerebellum | Purkinje cells | High | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebellum | cells in molecular layer | High | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | glial cells | High | Approved |
| cerebral cortex | neuronal cells | High | Approved |
| cervix | glandular cells | Medium | Approved |
| cervix | squamous epithelial cells | Low | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Medium | Approved |
| duodenum | glandular cells | Low | Approved |
| endometrium 1 | cells in endometrial stroma | Low | Approved |
| endometrium 1 | glandular cells | Low | Approved |
| endometrium 2 | cells in endometrial stroma | Low | Approved |
| endometrium 2 | glandular cells | Low | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Low | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | High | Approved |
| hippocampus | neuronal cells | High | Approved |
| kidney | cells in glomeruli | Medium | Approved |
| kidney | cells in tubules | High | Approved |
| liver | cholangiocytes | Low | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Medium | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| ovary | follicle cells | Low | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | decidual cells | High | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | Low | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Low | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | Medium | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | Low | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| soft tissue 1 | fibroblasts | Medium | Approved |
| soft tissue 1 | peripheral nerve | Medium | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| soft tissue 2 | peripheral nerve | Medium | Approved |
| stomach 1 | glandular cells | High | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Low | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| fetal akinesia deformation sequence 1 | MONDO:0100101 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:208150 | Orphanet:994 |
| fetal akinesia deformation sequence 4 | MONDO:0100104 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:618393 |