Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Catalytic activity
PDB | Resolution (Å) | PDB name |
---|---|---|
2OZB | 2.6 | Structure of a human Prp31-15.5K-U4 snRNA complex |
3JCR | 7.0 | 3D structure determination of the human*U4/U6.U5* tri-snRNP complex |
3SIU | 2.626 | Structure of a hPrp31-15.5K-U4atac 5' stem loop complex, monomeric form |
3SIV | 3.304 | Structure of a hPrp31-15.5K-U4atac 5' stem loop complex, dimeric form |
5O9Z | 4.5 | Cryo-EM structure of a pre-catalytic human spliceosome primed for activation (B complex) |
6AH0 | 5.7 | The Cryo-EM Structure of the Precusor of Human Pre-catalytic Spliceosome (pre-B complex) |
6AHD | 3.8 | The Cryo-EM Structure of Human Pre-catalytic Spliceosome (B complex) at 3.8 angstrom resolution |
6QW6 | 2.92 | Structure of the human U5.U4/U6 tri-snRNP at 2.9A resolution. |
6QX9 | 3.28 | Structure of a human fully-assembled precatalytic spliceosome (pre-B complex). |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0000398 | mRNA splicing, via spliceosome |
Biological Process | GO:0071166 | ribonucleoprotein complex localization |
Biological Process | GO:0000244 | spliceosomal tri-snRNP complex assembly |
Molecular Function | GO:0003723 | RNA binding |
Molecular Function | GO:0030621 | U4 snRNA binding |
Molecular Function | GO:0030622 | U4atac snRNA binding |
Molecular Function | GO:0042802 | identical protein binding |
Molecular Function | GO:0043021 | ribonucleoprotein complex binding |
Molecular Function | GO:0070990 | snRNP binding |
Cellular Component | GO:0015030 | Cajal body |
Cellular Component | GO:0071339 | MLL1 complex |
Cellular Component | GO:0071005 | U2-type precatalytic spliceosome |
Cellular Component | GO:0005684 | U2-type spliceosomal complex |
Cellular Component | GO:0005687 | U4 snRNP |
Cellular Component | GO:0046540 | U4/U6 x U5 tri-snRNP complex |
Cellular Component | GO:0005690 | U4atac snRNP |
Cellular Component | GO:0016607 | nuclear speck |
Cellular Component | GO:0005654 | nucleoplasm |
Cellular Component | GO:0005634 | nucleus |
Cellular Component | GO:0071011 | precatalytic spliceosome |
Cellular Component | GO:0097526 | spliceosomal tri-snRNP complex |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-72163 | mRNA Splicing - Major Pathway | Leaf | R-HSA-8953854 | Metabolism of RNA |
Location | ECO term | Pubmed |
---|---|---|
Nucleus | ECO:0000269 | PubMed:12444105 |
Nucleus | ECO:0000269 | PubMed:26912367 |
Nucleus | ECO:0000269 | PubMed:28781166 |
Nucleus | ECO:0000269 | PubMed:34023904 |
Nucleus speckle | ECO:0000269 | PubMed:11867543 |
Nucleus, Cajal body | ECO:0000269 | PubMed:11867543 |
HPO ID | HPO name |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000035 | Abnormal testis morphology |
HP:0000135 | Hypogonadism |
HP:0000405 | Conductive hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000431 | Wide nasal bridge |
HP:0000463 | Anteverted nares |
HP:0000501 | Glaucoma |
HP:0000505 | Visual impairment |
HP:0000510 | Rod-cone dystrophy |
HP:0000512 | Abnormal electroretinogram |
HP:0000518 | Cataract |
HP:0000543 | Optic disc pallor |
HP:0000563 | Keratoconus |
HP:0000602 | Ophthalmoplegia |
HP:0000608 | Macular degeneration |
HP:0000613 | Photophobia |
HP:0000618 | Blindness |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0000662 | Nyctalopia |
HP:0000842 | Hyperinsulinemia |
HP:0000987 | Atypical scarring of skin |
HP:0001133 | Constriction of peripheral visual field |
HP:0001249 | Intellectual disability |
HP:0001347 | Hyperreflexia |
HP:0001513 | Obesity |
HP:0003829 | Typified by incomplete penetrance |
HP:0005978 | Type II diabetes mellitus |
HP:0007401 | Macular atrophy |
HP:0007663 | Reduced visual acuity |
HP:0007675 | Progressive night blindness |
HP:0007703 | Abnormality of retinal pigmentation |
HP:0007737 | Bone spicule pigmentation of the retina |
HP:0008046 | Abnormal retinal vascular morphology |
HP:0008736 | Hypoplasia of penis |
HP:0030629 | Perifoveal ring of hyperautofluorescence |
HP:0040049 | Macular edema |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
retinitis pigmentosa 11 | MONDO:0010828 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:600138 |