Human Gene PRPF6 (ENST00000266079.5) from GENCODE V44
Description: Homo sapiens pre-mRNA processing factor 6 (PRPF6), mRNA. (from RefSeq NM_012469) RefSeq Summary (NM_012469): The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000266079.5 Gencode Gene: ENSG00000101161.8 Transcript (Including UTRs) Position: hg38 chr20:63,981,132-64,033,100 Size: 51,969 Total Exon Count: 21 Strand: + Coding Region Position: hg38 chr20:63,981,246-64,032,993 Size: 51,748 Coding Exon Count: 21
ID:PRP6_HUMAN DESCRIPTION: RecName: Full=Pre-mRNA-processing factor 6; AltName: Full=Androgen receptor N-terminal domain-transactivating protein 1; Short=ANT-1; AltName: Full=PRP6 homolog; AltName: Full=U5 snRNP-associated 102 kDa protein; Short=U5-102 kDa protein; FUNCTION: Involved in pre-mRNA splicing. May act in the tri-snRNP complex as a bridging factor between U5 and U4/U6 snRNPs in the late step of spliceosome assembly. May be necessary for tri-snRNP formation. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation. SUBUNIT: Associates with the U5 snRNP particle (containing the 40 kDa, 52 kDa, 116 kDa, 200 kDa and 220 kDa proteins) probably via interaction(s) with the 220 kDa and/or other proteins. Associates with U4/U6 snRNP particle (containing the 15.5 kDa, 20 kDa/60kDa/90kDa heteromer, LSm proteins LSm2-8, 61 kDa and Sm proteins). Interacts with ARAF1. Identified in the spliceosome C complex. Interacts with AR and NR3C1, but not ESR1, independently of the presence of hormones. INTERACTION: P10398:ARAF; NbExp=4; IntAct=EBI-536755, EBI-365961; SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Nucleus speckle. Note=Localized in splicing speckles. TISSUE SPECIFICITY: Widely expressed. DISEASE: Defects in PRPF6 may be the cause of retinitis pigmentosa type 60 (RP60) [MIM:613983]. 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. Note=Cells from RP60 patients show intron retention for pre-mRNA bearing specific splicing signals. SIMILARITY: Contains 9 HAT repeats.
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 O94906
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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.
AK225993 - Homo sapiens mRNA for U5 snRNP-associated 102 kDa protein variant, clone: FCC110G06. AK001554 - Homo sapiens cDNA FLJ10692 fis, clone NT2RP3000361, highly similar to Pre-mRNA-processing factor 6 homolog. AF221842 - Homo sapiens U5 snRNP-associated 102 kDa protein mRNA, complete cds. AF026031 - Homo sapiens putative mitochondrial outer membrane protein import receptor (hTOM) mRNA, nuclear gene encoding mitochondrial protein, complete cds. AK314310 - Homo sapiens cDNA, FLJ95067. AB019219 - Homo sapiens mRNA, complete cds, similar to yeast pre-mRNA splicing factors, Prp1/Zer1 and Prp6. JD419571 - Sequence 400595 from Patent EP1572962. JD538444 - Sequence 519468 from Patent EP1572962. JD297710 - Sequence 278734 from Patent EP1572962. JD555264 - Sequence 536288 from Patent EP1572962. JD140811 - Sequence 121835 from Patent EP1572962. BC001666 - Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae), mRNA (cDNA clone MGC:1852 IMAGE:2988165), complete cds. AB527848 - Synthetic construct DNA, clone: pF1KB8511, Homo sapiens PRPF6 gene for PRP6 pre-mRNA processing factor 6 homolog, without stop codon, in Flexi system. KJ893451 - Synthetic construct Homo sapiens clone ccsbBroadEn_02845 PRPF6 gene, encodes complete protein. AL137320 - Homo sapiens mRNA; cDNA DKFZp434P011 (from clone DKFZp434P011); partial cds. JD170578 - Sequence 151602 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03040 - Spliceosome
Reactome (by CSHL, EBI, and GO)
Protein O94906 (Reactome details) participates in the following event(s):
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-75081 Formation of AT-AC B Complex R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage R-HSA-75079 Formation of AT-AC C complex R-HSA-156661 Formation of Exon Junction Complex R-HSA-72127 Formation of the Spliceosomal B Complex R-HSA-72165 mRNA Splicing - Minor Pathway 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
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