CSDE1

Chr 1p13.2

cold shock domain containing E1

Aliases:: D1S155E, UNR
MANE:: ENST00000358528.9

OMIM: 191510 ↗NCBI: 7812 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CSDE1 · O75534

v62025-08-01

Predicted Aligned Error matrix for CSDE1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.6/ 100

Confident

798 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)48%
Low(50–70)14%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodegenerative disease
0.55
hereditary disease
0.49
complex neurodevelopmental disorder
0.40
autism
0.37
Intellectual disability
0.37
neurodevelopmental disorder
0.37
Global developmental delay
0.37
melanoma
0.09
neoplasm
0.08
hepatocellular carcinoma
0.08

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

Protein function (UniProt)

Cold shock domain-containing protein E1

RNA-binding protein involved in translationally coupled mRNA turnover (PubMed:11051545, PubMed:15314026). Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain (PubMed:11051545, PubMed:15314026). Required for efficient formation of stress granules (PubMed:29395067)