Description: Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA. RefSeq Summary (NM_015629): This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]. Transcript (Including UTRs) Position: hg19 chr19:54,618,790-54,635,150 Size: 16,361 Total Exon Count: 14 Strand: + Coding Region Position: hg19 chr19:54,621,659-54,634,863 Size: 13,205 Coding Exon Count: 13
ID:PRP31_HUMAN DESCRIPTION: RecName: Full=U4/U6 small nuclear ribonucleoprotein Prp31; AltName: Full=Pre-mRNA-processing factor 31; AltName: Full=Serologically defined breast cancer antigen NY-BR-99; AltName: Full=U4/U6 snRNP 61 kDa protein; Short=Protein 61K; Short=hPrp31; FUNCTION: Involved in pre-mRNA splicing. Required for U4/U6.U5 tri-snRNP formation. SUBUNIT: Part of a tri-snRNP complex. Interacts with a complex formed by NHP2L1 and U4 snRNA, but not with NHP2L1 or U4 snRNA alone. Interacts with PRPF6/U5 snRNP-associated 102 kDa protein. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, 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. Interacts (via its NLS) with CTNNBL1. SUBCELLULAR LOCATION: Nucleus speckle. Nucleus, Cajal body. Note=Predominantly found in speckles and in Cajal bodies. TISSUE SPECIFICITY: Ubiquitously expressed. DOMAIN: Interacts with the snRNP via the Nop domain. DOMAIN: The coiled coil domain is formed by two non-contiguous helices. DISEASE: Defects in PRPF31 are the cause of retinitis pigmentosa type 11 (RP11) [MIM:600138]. RP leads to degeneration of retinal photoreceptor cells. 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. RP11 inheritance is autosomal dominant. SIMILARITY: Belongs to the PRP31 family. SIMILARITY: Contains 1 Nop domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WWY3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KJ893522 - Synthetic construct Homo sapiens clone ccsbBroadEn_02916 PRPF31 gene, encodes complete protein. KR711620 - Synthetic construct Homo sapiens clone CCSBHm_00027858 PRPF31 (PRPF31) mRNA, encodes complete protein. KR711621 - Synthetic construct Homo sapiens clone CCSBHm_00027862 PRPF31 (PRPF31) mRNA, encodes complete protein. DQ426885 - Homo sapiens pre-mRNA processing factor 31-like protein (PRPF31) mRNA, 5' UTR. AY040822 - Homo sapiens U4/U6 snRNP-associated 61 kDa protein mRNA, complete cds. BC117389 - Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), mRNA (cDNA clone MGC:150998 IMAGE:40125940), complete cds. AK301709 - Homo sapiens cDNA FLJ59251 complete cds, highly similar to U4/U6 small nuclear ribonucleoprotein Prp31. AB593025 - Homo sapiens PRPF31 mRNA for U4/U6 small nuclear ribonucleoprotein Prp31, complete cds, clone: HP04496-ARe67A12. AK098547 - Homo sapiens cDNA FLJ25681 fis, clone TST04131. AL050369 - Homo sapiens mRNA; cDNA DKFZp566J153 (from clone DKFZp566J153). AB593024 - Homo sapiens PRPF31 mRNA for U4/U6 small nuclear ribonucleoprotein Prp31, complete cds, clone: HP04496-ARa33B12. JD205080 - Sequence 186104 from Patent EP1572962. AB463201 - Synthetic construct DNA, clone: pF1KB8665, Homo sapiens PRPF31 gene for PRP31 pre-mRNA processing factor 31 homolog, without stop codon, in Flexi system. AM392866 - Synthetic construct Homo sapiens clone IMAGE:100001709 for hypothetical protein (PRPF31 gene). HQ258269 - Synthetic construct Homo sapiens clone IMAGE:100072578 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31) gene, encodes complete protein. AF308303 - Homo sapiens serologically defined breast cancer antigen NY-BR-99 mRNA, complete cds. LP986363 - Sequence 1 from Patent EP3201339. MA014023 - JP 2017536338-A/1: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986365 - Sequence 3 from Patent EP3201339. MA014025 - JP 2017536338-A/3: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986366 - Sequence 4 from Patent EP3201339. MA014026 - JP 2017536338-A/4: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986368 - Sequence 6 from Patent EP3201339. MA014028 - JP 2017536338-A/6: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. AK091105 - Homo sapiens cDNA FLJ33786 fis, clone BRSSN2008419. JD493190 - Sequence 474214 from Patent EP1572962. JD122913 - Sequence 103937 from Patent EP1572962. JD277051 - Sequence 258075 from Patent EP1572962. JD174513 - Sequence 155537 from Patent EP1572962. JD471468 - Sequence 452492 from Patent EP1572962. JD217883 - Sequence 198907 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03040 - Spliceosome
Reactome (by CSHL, EBI, and GO)
Protein Q8WWY3 (Reactome details) participates in the following event(s):
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-72127 Formation of the Spliceosomal B Complex R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-72172 mRNA Splicing R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-8953854 Metabolism of RNA
US Server
