SART3

Chr 12q23.3

spliceosome associated factor 3, U4/U6 recycling protein

Aliases:: KIAA0156, RP11-13G14, TIP110, p110
MANE:: ENST00000546815.6

OMIM: 611684 ↗NCBI: 9733 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SART3 · Q15020

v62025-08-01

Predicted Aligned Error matrix for SART3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.4/ 100

Confident

963 residues

Confidence breakdown

Very high(≥ 90)52%
Confident(70–90)19%
Low(50–70)5%
Very low(< 50)24%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Familial disseminated superficial actinic porokeratosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COVID-19 research
Unknown
Primary immunodeficiency or monogenic inflammatory bowel disease
Unknown

Disease associations (Open Targets)

neurodegenerative disease
0.53
open-angle glaucoma
0.30
porokeratosis 3, disseminated superficial actinic type
0.21
disseminated superficial actinic porokeratosis
0.18
complex neurodevelopmental disorder
0.18
hepatocellular carcinoma
0.09
hyperpituitarism
0.06
neoplasm
0.06
cancer
0.05
self-injurious ideation
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Spliceosome associated factor 3, U4/U6 recycling protein

U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation (PubMed:12032085). Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non-canonical splice sites (PubMed:14749385). May also function as a substrate-targeting factor for deubiquitinases like USP4 and USP15. Recruits USP4 to ubiquitinated PRPF3 within the U4/U5/U6 tri-snRNP complex, promoting PRPF3 deubiquitination and thereby regulating the spliceosome U4/U5/U6 tri-snRNP spliceosomal complex disassembly (PubMed:20595234). May also recruit the deubiquitinase USP15 to histone H2B and mediate histone deubiquitination, thereby regulating gene expression and/or DNA repair (PubMed:24526689). May play a role in hematopoiesis probably through transcription regulation of specific genes including MYC (By similarity)