spectrin alpha chain, erythrocyte; erythroid alpha-spectrin (SPTA1, SPTA)

Function

• spectrin alpha subunit

Structure

• belongs to the spectrin family
• contains 3 EF-hand domains
• contains 1 SH3 domain
• contains 22 spectrin repeats

Compartment

• cytoplasm, cytoskeleton. cytoplasm, cell cortex

Pathology

• defects in SPTA1 are the cause of:
  • elliptocytosis type 2
  • hereditary pyropoikilocytosis
  • hereditary spherocytosis type 3

More general terms

• protein subunit

Component of

• spectrin

Database

• UniProt: http://www.uniprot.org/uniprot/P02549.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6708
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6708
• OMIM: https://mirror.omim.org/entry/130600
• OMIM: https://mirror.omim.org/entry/182860
• OMIM: https://mirror.omim.org/entry/266140
• OMIM: https://mirror.omim.org/entry/270970