RSRC1

Chr 3q25.32

arginine and serine rich coiled-coil 1

Aliases:: MGC12197, BM-011, SRrp53, SFRS21
MANE:: ENST00000611884.5

OMIM: 613352 ↗NCBI: 51319 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RSRC1 · Q96IZ7

v62025-08-01

Predicted Aligned Error matrix for RSRC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.4/ 100

Low

334 residues

Confidence breakdown

Very high(≥ 90)10%
Confident(70–90)21%
Low(50–70)20%
Very low(< 50)49%

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder, autosomal recessive 70
0.67
autosomal recessive non-syndromic intellectual disability
0.60
hereditary disease
0.47
major depressive disorder
0.41
smoking initiation
0.38
substance-related disorder
0.38
complex neurodevelopmental disorder
0.37
attention deficit-hyperactivity disorder
0.36
obesity disorder
0.33
autism
0.33

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

Protein function (UniProt)

Serine/Arginine-related protein 53

Has a role in alternative splicing and transcription regulation (PubMed:29522154). Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing