NSRP1

Chr 17q11.2

nuclear speckle splicing regulatory protein 1

Aliases:: DKFZP434K1421, NSrp70
MANE:: ENST00000247026.10

OMIM: 616173 ↗NCBI: 84081 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NSRP1 · Q9H0G5

v62025-08-01

Predicted Aligned Error matrix for NSRP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.8/ 100

Low

558 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)31%
Low(50–70)23%
Very low(< 50)38%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
0.64
microcephaly
0.45
Seizure
0.45
Spasticity
0.45
Severe global developmental delay
0.45
systemic lupus erythematosus
0.28
spontaneous coronary artery dissection
0.24
chronic obstructive pulmonary disease
0.22
diabetes mellitus
0.15
information processing speed
0.14

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

Protein function (UniProt)

Nuclear speckle splicing regulatory protein 1

RNA-binding protein that mediates pre-mRNA alternative splicing regulation (PubMed:21296756). Through CCDC118 regulation, may promote pre-adipocyte differentiation (By similarity)