PRPF6 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. Defects in PRPF6 may be the cause of retinitis pigmentosa type 60 (RP60). 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. Cells from RP60 patients show intron retention for pre-mRNA bearing specific splicing signals. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis; Nuclear receptor co-regulator; RNA splicing; RNA-binding; Spliceosome
Chromosomal Location of Human Ortholog: 20q13.33
Cellular Component:  catalytic step 2 spliceosome; nuclear speck; nucleoplasm; nucleus; spliceosomal complex; U2-type precatalytic spliceosome; U4/U6 x U5 tri-snRNP complex; U5 snRNP
Molecular Function:  androgen receptor binding; protein binding; ribonucleoprotein complex binding; RNA binding; transcription coactivator activity
Biological Process:  mRNA splicing, via spliceosome; positive regulation of transcription by RNA polymerase II; RNA localization; RNA splicing; RNA splicing, via transesterification reactions; spliceosomal complex assembly; spliceosomal tri-snRNP complex assembly
Disease: Retinitis Pigmentosa 60
Reference #:  O94906 (UniProtKB)
Alt. Names/Synonyms: androgen receptor N-terminal domain transactivating protein-1; ANT-1; C20orf14; hPrp6; p102 U5 small nuclear ribonucleoprotein particle-binding protein; Pre-mRNA-processing factor 6; Prp6; PRP6 homolog; PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae); PRPF6; putative mitochondrial outer membrane protein import receptor; TOM; U5 snRNP-associated 102 kDa protein; U5-102 kDa protein; U5-102K
Gene Symbols: PRPF6
Molecular weight: 106,925 Da
Basal Isoelectric point: 8.49  Predict pI for various phosphorylation states
Select Structure to View Below

PRPF6

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  NURSA