SPTB

Function

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.

Involvement in disease

Elliptocytosis 3

EL3

A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Spherocytosis 2

SPH2

An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

The first phosphorylation event occurs on Ser-2114, followed by Ser-2125, Ser-2123, Ser-2128, Ser-2117, and Thr-2110.

(Microbial infection) Probably cleaved by P.falciparum SERA6; the cleavage results in SPTB solubilisation causing the disruption of the actin cytoskeleton and the rupture of the erythrocyte cell membrane releasing the merozoites.

Sequence similarities

Belongs to the spectrin family.

Cellular localization

• Cytoplasm
• Cytoskeleton
• Cytoplasm
• Cell cortex

Alternative names

• Beta-I spectrin
• SPTB1
• SPTB

Database links

• entrezGene:6710
• omim:182870
• swissprot:P11277

Target type

Proteins

Molecular weight

246468Da