ANK1

Chr 8p11.21

ankyrin 1

Aliases:: SPH1
MANE:: ENST00000289734.13

OMIM: 612641 ↗NCBI: 286 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ANK1 · P16157

v62025-08-01

Predicted Aligned Error matrix for ANK1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.8/ 100

Low

1,881 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)29%
Low(50–70)5%
Very low(< 50)30%

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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rare anaemia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary spherocytosis
0.79
Spherocytosis
0.49
hereditary disease
0.47
diabetes mellitus
0.45
type 2 diabetes mellitus
0.42
Congenital hemolytic anemia
0.35
non-autoimmune hemolytic anemia
0.34
iris disorder
0.31
conduction system disorder
0.31
ciliopathy
0.31

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

Protein function (UniProt)

Ankyrin-1

Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions