SNIP1

Chr 1p34.3

Smad nuclear interacting protein 1

Aliases:: PML1
MANE:: ENST00000296215.8

OMIM: 608241 ↗NCBI: 79753 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SNIP1 · Q8TAD8

v62025-08-01

Predicted Aligned Error matrix for SNIP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.1/ 100

Low

396 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)15%
Low(50–70)15%
Very low(< 50)40%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

psychomotor retardation, epilepsy, and craniofacial dysmorphism
0.64
neurodegenerative disease
0.52
Rolandic epilepsy
0.33
self-limited epilepsy with centrotemporal spikes
0.33
asthma
0.31
open-angle glaucoma
0.15
cardiac hypertrophy
0.08
colorectal carcinoma
0.07
posterior polymorphous corneal dystrophy
0.06
Familial ocular anterior segment mesenchymal dysgenesis
0.06

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

Protein function (UniProt)

Smad nuclear-interacting protein 1

Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA