Functions in the second step of pre-mRNA splicing. Involved in splicing intron which are longer than 200 nucleotides.

Probable ubiquitin-protein ligase involved in pre-mRNA splicing. Acts as a central component of the NTC complex (or PRP19-associated complex) that associates to the spliceosome to mediate conformational rearrangement or to stabilize the structure of the spliceosome after U4 snRNA dissociation, which leads to spliceosome maturation. It is also probably involved in DNA repair.

Also known as Pre-mRNA-processing factor 19 homolog 1 (MOS4-associated complex protein 3A) (MAC protein 3A) (Plant U-box protein 59) (U-box domain-containing protein 59).
Encodes MAC3A, a U-box proteins with homology to the yeast and human E3 ubiquitin ligase Prp19. Associated with the MOS4-Associated Complex (MAC). Involved in plant innate immunity.

Also known as Pre-mRNA-processing factor 19 homolog 2 (MOS4-associated complex protein 3B) (MAC protein 3B) (Plant U-box protein 60) (U-box domain-containing protein 60).
Encodes MAC3B, a U-box proteins with homology to the yeast and human E3 ubiquitin ligase Prp19. Associated with the MOS4-Associated Complex (MAC). Involved in plant innate immunity.

Promotes the association of the U4/U6.U5 tri-snRNP particle with pre-spliceosomes to form the mature spliceosomal complex.

Function prior to stable branch point recognition by the U1 snRNP particle to facilitate or stabilize the U1 snRNP/5'-splice site interaction. Has a direct role in the assembly or function of a catalytically active spliceosome.

Also known as Pre-mRNA-processing factor 40 homolog A (Fas ligand-associated factor 1) (Formin-binding protein 11) (Formin-binding protein 3) (Huntingtin yeast partner A) (Huntingtin-interacting protein 10) (HIP-10) (Huntingtin-interacting protein A) (Renal carcinoma antigen NY-REN-6).
FNBP3: Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing. Belongs to the PRPF40 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA processing; Spliceosome

Chromosomal Location of Human Ortholog: 2q23.3

Cellular Component: cytoplasm; membrane; nuclear matrix; nucleoplasm; snRNP U1

Molecular Function: protein binding; RNA binding

Biological Process: cell migration; cytoskeleton organization and biogenesis; nuclear mRNA splicing, via spliceosome; regulation of cell shape; regulation of cytokinesis

Also known as Pre-mRNA-processing factor 40 homolog B (Huntingtin yeast partner C) (Huntingtin-interacting protein C).
HYPC: May be involved in pre-mRNA splicing. Belongs to the PRPF40 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA processing

Cellular Component: snRNP U1

Molecular Function: RNA binding

Biological Process: nuclear mRNA splicing, via spliceosome

Also known as Pre-mRNA-processing factor 6 (Androgen receptor N-terminal domain-transactivating protein 1) (ANT-1) (PRP6 homolog) (U5 snRNP-associated 102 kDa protein) (U5-102 kDa protein).
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.

Protein type: Motility/polarity/chemotaxis; Nuclear receptor co-regulator; RNA splicing; RNA-binding; Spliceosome

Chromosomal Location of Human Ortholog: 20q13.33

Cellular Component: membrane; nucleoplasm; nucleus; snRNP U5; U4/U6 x U5 tri-snRNP complex

Molecular Function: androgen receptor binding; protein binding; ribonucleoprotein binding; RNA binding; transcription coactivator activity

Biological Process: assembly of spliceosomal tri-snRNP; nuclear mRNA splicing, via spliceosome; positive regulation of transcription from RNA polymerase II promoter; RNA localization

Disease: Retinitis Pigmentosa 60