EPB41

Chr 1p35.3

erythrocyte membrane protein band 4.1

Aliases:: 4.1R
MANE:: ENST00000343067.9

OMIM: 130500 ↗NCBI: 2035 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

EPB41 · P11171

v62025-08-01

Predicted Aligned Error matrix for EPB41 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.0/ 100

Low

864 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)13%
Low(50–70)12%
Very low(< 50)45%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

hereditary elliptocytosis
0.75
neurodegenerative disease
0.51
gout
0.31
Abnormality of the skeletal system
0.29
schizophrenia
0.26
central nervous system infectious disorder
0.24
hereditary disease
0.19
alcohol drinking
0.18
urolithiasis
0.18
response to xenobiotic stimulus
0.12

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

Protein function (UniProt)

Protein 4.1

Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127)