EPB41L3

Chr 18p11.31

erythrocyte membrane protein band 4.1 like 3

Aliases:: DAL1, KIAA0987, 4.1B
MANE:: ENST00000341928.7

OMIM: 605331 ↗NCBI: 23136 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

EPB41L3 · Q9Y2J2

v62025-08-01

Predicted Aligned Error matrix for EPB41L3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.6/ 100

Low

1,087 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)13%
Low(50–70)11%
Very low(< 50)53%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Proptosis
0.32
placental abruption
0.31
benign soft tissue neoplasm
0.29
protozoa infectious disease
0.27
septic shock
0.26
ovarian neoplasm
0.25
adrenal gland disorder
0.25
retinal degeneration
0.24
alcohol dependence
0.20
cerebellar degeneration
0.20

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

Protein function (UniProt)

Band 4.1-like protein 3

Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5