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UniProt functional annotation for Q8WWY3 | ||
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| UniProt code: Q8WWY3. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543). {ECO:0000269|PubMed:11867543, ECO:0000269|PubMed:28781166}. |
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| Subunit: | |
Identified in the spliceosome B complex (PubMed:28781166). Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39 (PubMed:11867543, PubMed:16723661, PubMed:26912367). Interacts with a complex formed by SNU13 and U4 snRNA, but not with SNU13 or U4 snRNA alone (PubMed:17412961, PubMed:21784869). The complex formed by SNU13 and PRPF31 binds also U4atac snRNA, a characteristic component of specific, less abundant spliceosomal complexes (PubMed:21784869). Interacts with PRPF6/U5 snRNP-associated 102 kDa protein (PubMed:11867543, PubMed:17412961, PubMed:26912367). Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10 (PubMed:15960975). Interacts (via its NLS) with CTNNBL1 (PubMed:21385873). {ECO:0000269|PubMed:11867543, ECO:0000269|PubMed:15960975, ECO:0000269|PubMed:16723661, ECO:0000269|PubMed:17412961, ECO:0000269|PubMed:21385873, ECO:0000269|PubMed:21784869, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}. |
| Subcellular location: | |
Nucleus {ECO:0000269|PubMed:12444105, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}. Nucleus speckle {ECO:0000269|PubMed:11867543}. Nucleus, Cajal body {ECO:0000269|PubMed:11867543}. Note=Predominantly found in speckles and in Cajal bodies. {ECO:0000269|PubMed:11867543}. |
| Tissue specificity: | |
Ubiquitously expressed. {ECO:0000269|PubMed:11545739}. |
| Domain: | |
Interacts with the snRNP via the Nop domain. {ECO:0000269|PubMed:17412961, ECO:0000269|PubMed:21784869}. |
| Domain: | |
The coiled coil domain is formed by two non-contiguous helices. {ECO:0000269|PubMed:17412961, ECO:0000269|PubMed:21784869}. |
| Disease: | |
Retinitis pigmentosa 11 (RP11) [MIM:600138]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11545739, ECO:0000269|PubMed:12444105, ECO:0000269|PubMed:12923864, ECO:0000269|PubMed:17412961, ECO:0000269|PubMed:8808602}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the PRP31 family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.