SPTA1

Chr 1q23.1

spectrin alpha, erythrocytic 1

Aliases:: EL2
MANE:: ENST00000643759.2

OMIM: 182860 ↗NCBI: 6708 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SPTA1 · P02549

v62025-08-01

Predicted Aligned Error matrix for SPTA1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.4/ 100

Confident

2,419 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)82%
Low(50–70)15%
Very low(< 50)2%

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

elliptocytosis 2
0.81
Pyropoikilocytosis
0.74
hereditary spherocytosis type 3
0.73
pyropoikilocytosis, hereditary
0.68
hereditary elliptocytosis
0.61
hereditary spherocytosis
0.54
Congenital hemolytic anemia
0.48
familial hemolytic anemia
0.42
Spherocytosis
0.41
hydrops fetalis
0.37

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

Protein function (UniProt)

Spectrin alpha chain, erythrocytic 1

Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane