SPTA1

This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]

Description

Spectrin alpha, erythrocytic 1

Tissue specificity

Tissue enriched (bone marrow)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (158610704 - 158686715)

Ensembl ID

ENSG00000163554  (ver. 103.38)

Orthologs

Mouse Spta1: ENSMUSG00000026532

UniProt

P02549

neXtProt

NX_P02549

Human splice variants
Mouse splice variants

Protein structure